geneId geneSymbol geneName diseaseId diseaseName score NumberOfPubmeds associationType source 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0019202 Hepatolenticular Degeneration 0.972606830040202 200 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, RGD, UNIPROT 4160 MC4R melanocortin 4 receptor umls:C0028754 Obesity 0.94 264 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, RGD, UNIPROT 3667 IRS1 insulin receptor substrate 1 umls:C0011860 Diabetes Mellitus, Type 2 0.907216438728992 112 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, RGD, UNIPROT 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0010674 Cystic Fibrosis 0.9 1074 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 4204 MECP2 methyl CpG binding protein 2 umls:C0035372 Rett Syndrome 0.9 498 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 5621 PRNP prion protein umls:C0022336 Creutzfeldt-Jakob Syndrome 0.884360622875725 272 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2332 FMR1 fragile X mental retardation 1 umls:C0016667 Fragile X Syndrome 0.880361233035669 523 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0238198 Gastrointestinal Stromal Tumors 0.879390147828908 621 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 4210 MEFV Mediterranean fever umls:C0031069 Familial Mediterranean Fever 0.870270924776752 323 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1142166 Brugada Syndrome 0.869105313991926 183 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 1756 DMD dystrophin umls:C0013264 Muscular Dystrophy, Duchenne 0.865413063630181 510 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2200 FBN1 fibrillin 1 umls:C0024796 Marfan Syndrome 0.858256351526757 289 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 551 AVP arginine vasopressin umls:C0687720 Diabetes Insipidus, Neurogenic 0.855107808278243 76 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, RGD, UNIPROT 351 APP amyloid beta (A4) precursor protein umls:C0002395 Alzheimer Disease 0.852707275405662 215 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 5314 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) umls:C0085548 Polycystic Kidney, Autosomal Recessive 0.850728213743528 60 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, RGD, UNIPROT 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0028326 Noonan Syndrome 0.849717283052145 161 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 472 ATM ATM serine/threonine kinase umls:C0004135 Ataxia Telangiectasia 0.844353946410672 371 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 4221 MEN1 multiple endocrine neoplasia I umls:C0025267 Multiple Endocrine Neoplasia Type 1 0.843737417774526 225 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 443 ASPA aspartoacylase umls:C0206307 Canavan Disease 0.839552918162834 50 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, RGD, UNIPROT 5009 OTC ornithine carbamoyltransferase umls:C0268542 Ornithine Carbamoyltransferase Deficiency Disease 0.838731368518667 71 Biomarker, GeneticVariation, Therapeutic BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, RGD, UNIPROT 411 ARSB arylsulfatase B umls:C0026709 Mucopolysaccharidosis VI 0.837235850643486 43 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, RGD, UNIPROT 3848 KRT1 keratin 1, type II umls:C0079153 Hyperkeratosis, Epidermolytic 0.833012246158195 38 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, RGD, UNIPROT 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C0024591 Malignant Hyperthermia 0.831580103731914 197 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 1130 LYST lysosomal trafficking regulator umls:C0007965 Chediak-Higashi Syndrome 0.827342154756322 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, RGD, UNIPROT 4763 NF1 neurofibromin 1 umls:C0027831 Neurofibromatosis 1 0.826153871652525 225 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 6794 STK11 serine/threonine kinase 11 umls:C0031269 Peutz-Jeghers Syndrome 0.821637865423511 181 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2717 GLA galactosidase, alpha umls:C0002986 Fabry Disease 0.819539194854142 237 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 367 AR androgen receptor umls:C0039585 Androgen-Insensitivity Syndrome 0.817503914219146 148 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C0019562 von Hippel-Lindau Disease 0.816103697178577 188 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 368 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 umls:C0033847 Pseudoxanthoma Elasticum 0.812244353370677 117 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 7454 WAS Wiskott-Aldrich syndrome umls:C0043194 Wiskott-Aldrich Syndrome 0.805889612556295 139 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 2158 F9 coagulation factor IX umls:C0008533 Hemophilia B 0.804609242011148 291 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2670 GFAP glial fibrillary acidic protein umls:C0270726 Alexander Disease 0.802117160946736 92 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 4137 MAPT microtubule-associated protein tau umls:C0338451 Frontotemporal Dementia 0.800853607674127 343 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 4976 OPA1 optic atrophy 1 (autosomal dominant) umls:C0338508 Optic Atrophy, Autosomal Dominant 0.800375511203846 115 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 5728 PTEN phosphatase and tensin homolog umls:C0018553 Hamartoma Syndrome, Multiple 0.799169633989802 195 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 410 ARSA arylsulfatase A umls:C0023522 Leukodystrophy, Metachromatic 0.79323610491032 162 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 3145 HMBS hydroxymethylbilane synthase umls:C0162565 Porphyria, Acute Intermittent 0.790294100118557 143 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 4000 LMNA lamin A/C umls:C0033300 Progeria 0.783157454907618 122 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 7466 WFS1 Wolfram syndrome 1 (wolframin) umls:C0043207 Wolfram Syndrome 0.781907580362788 79 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 6647 SOD1 superoxide dismutase 1, soluble umls:C1862939 Amyotrophic lateral sclerosis 1 0.78 426 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0001080 Achondroplasia 0.779578366049865 110 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2548 GAA glucosidase, alpha; acid umls:C0017921 Glycogen Storage Disease Type II 0.775649924390883 98 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2131 EXT1 exostosin glycosyltransferase 1 umls:C0015306 Exostoses, Multiple Hereditary 0.774681281870921 100 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 5354 PLP1 proteolipid protein 1 umls:C0205711 Pelizaeus-Merzbacher Disease 0.773917660358981 121 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 7486 WRN Werner syndrome, RecQ helicase-like umls:C0043119 Werner Syndrome 0.773136244499783 100 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 215 ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 umls:C0162309 Adrenoleukodystrophy 0.772500137508513 131 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 3064 HTT huntingtin umls:C0020179 Huntington Disease 0.772303913555614 228 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, RGD 3251 HPRT1 hypoxanthine phosphoribosyltransferase 1 umls:C0023374 Lesch-Nyhan Syndrome 0.770848141046549 103 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 5727 PTCH1 patched 1 umls:C0004779 Basal Cell Nevus Syndrome 0.77020313688165 104 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 1717 DHCR7 7-dehydrocholesterol reductase umls:C0175694 Smith-Lemli-Opitz Syndrome 0.768883187411018 82 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2235 FECH ferrochelatase umls:C0162568 Protoporphyria, Erythropoietic 0.768863609055893 101 Biomarker, GeneticVariation, Therapeutic BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 6519 SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 umls:C0010691 Cystinuria 0.76759269054386 63 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 11136 SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 umls:C0010691 Cystinuria 0.767534762411632 44 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 641 BLM Bloom syndrome, RecQ helicase-like umls:C0005859 Bloom Syndrome 0.764885647900953 64 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 5080 PAX6 paired box 6 umls:C0003076 Aniridia 0.764735793942572 140 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C0751951 Myopathy, Central Core 0.764072995430415 88 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 538 ATP7A ATPase, Cu++ transporting, alpha polypeptide umls:C0022716 Menkes Kinky Hair Syndrome 0.763937072273475 83 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 860 RUNX2 runt-related transcription factor 2 umls:C0008928 Cleidocranial Dysplasia 0.763477022224114 77 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 5621 PRNP prion protein umls:C0017495 Gerstmann-Straussler-Scheinker Disease 0.76055232324225 105 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0039292 Tangier Disease 0.758773300796976 95 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 6559 SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 umls:C0268450 Gitelman Syndrome 0.757954023698035 47 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0175704 LEOPARD Syndrome 0.756721943500464 45 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 3423 IDS iduronate 2-sulfatase umls:C0026705 Mucopolysaccharidosis II 0.755634683633461 113 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 5376 PMP22 peripheral myelin protein 22 umls:C0393814 Tomaculous neuropathy 0.755154566691615 124 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5172 SLC26A4 solute carrier family 26 (anion exchanger), member 4 umls:C0271829 Pendred syndrome 0.754734650427222 100 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 8878 SQSTM1 sequestosome 1 umls:C0029401 Osteitis Deformans 0.753906476154651 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 5979 RET ret proto-oncogene umls:C0025269 Multiple Endocrine Neoplasia Type 2b 0.752594128387143 90 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2690 GHR growth hormone receptor umls:C0271568 Laron Syndrome 0.751353151015943 75 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0022398 Job Syndrome 0.750962198817663 59 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 3073 HEXA hexosaminidase A (alpha polypeptide) umls:C0039373 Tay-Sachs Disease 0.750756689272281 75 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 6197 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 umls:C0265252 Coffin-Lowry Syndrome 0.750748280636012 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0022595 Darier Disease 0.750406847933691 30 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 4010 LMX1B LIM homeobox transcription factor 1, beta umls:C0027341 Nail-Patella Syndrome 0.750103276471113 42 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 695 BTK Bruton agammaglobulinemia tyrosine kinase umls:C0221026 Bruton type agammaglobulinemia 0.750051484429929 119 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7450 VWF von Willebrand factor umls:C1264039 von Willebrand Disease, Type 1 0.74953350624834 96 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 25836 NIPBL Nipped-B homolog (Drosophila) umls:C0270972 De Lange Syndrome 0.749076217281564 47 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 8518 IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein umls:C0013364 Dysautonomia, Familial 0.748225703571283 41 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 846 CASR calcium-sensing receptor umls:C0342637 Hypocalciuric hypercalcemia, familial, type 1 0.748115983397871 93 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 4023 LPL lipoprotein lipase umls:C0023817 Hyperlipoproteinemia Type I 0.747754483803066 112 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 7957 EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) umls:C0751783 Lafora Disease 0.747149613423136 56 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 4089 SMAD4 SMAD family member 4 umls:C0345893 Juvenile polyposis syndrome 0.747129057993291 66 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 1387 CREBBP CREB binding protein umls:C0035934 Rubinstein-Taybi Syndrome 0.746553640216835 42 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 1121 CHM choroideremia (Rab escort protein 1) umls:C0008525 Choroideremia 0.745937600118049 51 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 55636 CHD7 chromodomain helicase DNA binding protein 7 umls:C0265354 CHARGE Syndrome 0.745847946837122 84 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0752347 Lewy Body Disease 0.744227675523858 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C0022387 Jervell-Lange Nielsen Syndrome 0.743718594515898 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2138 EYA1 EYA transcriptional coactivator and phosphatase 1 umls:C0265234 Branchio-Oto-Renal Syndrome 0.7436695635573 42 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 2581 GALC galactosylceramidase umls:C0023521 Leukodystrophy, Globoid Cell 0.742700432499978 67 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 3920 LAMP2 lysosomal-associated membrane protein 2 umls:C0878677 Glycogen Storage Disease Type IIb 0.741968536136738 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C1631597 Polymorphic catecholergic ventricular tachycardia 0.741546347327119 77 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C1275126 Periodic fever, familial, autosomal dominant 0.741360904674222 62 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 1311 COMP cartilage oligomeric matrix protein umls:C0410538 Pseudoachondroplasia 0.741360904674222 60 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0349639 Leukemia, Myelomonocytic, Juvenile 0.740657972377095 38 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 6949 TCOF1 Treacher Collins-Franceschetti syndrome 1 umls:C0242387 Mandibulofacial Dysostosis 0.740041932278309 47 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0022350 Jaundice, Chronic Idiopathic 0.739984004146082 29 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, RGD, UNIPROT 3074 HEXB hexosaminidase B (beta polypeptide) umls:C0036161 Sandhoff Disease 0.7397784946007 35 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 3640 INSL3 insulin-like 3 (Leydig cell) umls:C0010417 Cryptorchidism 0.73952346555936 31 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 34 ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain umls:C0220710 Medium chain acyl CoA dehydrogenase deficiency 0.739288991947865 33 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 8910 SGCE sarcoglycan, epsilon umls:C1834570 Myoclonic dystonia 0.738711301626182 67 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 189 AGXT alanine-glyoxylate aminotransferase umls:C0268164 Primary hyperoxaluria type 1 0.738144292485995 69 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8291 DYSF dysferlin umls:C1850808 Miyoshi myopathy 0.737860787915901 64 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6899 TBX1 T-box 1 umls:C0012236 DiGeorge Syndrome 0.737802859783674 48 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C1861922 Campomelic Dysplasia 0.737548319279694 58 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 5172 SLC26A4 solute carrier family 26 (anion exchanger), member 4 umls:C1863752 Enlarged Vestibular Aqueduct 0.737342809734312 53 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C1868678 Thanatophoric Dysplasia, Type I 0.73701027420562 60 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1861 TOR1A torsin family 1, member A (torsin A) umls:C1851945 Dystonia musculorum deformans type 1 0.736443265065433 58 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1287 COL4A5 collagen, type IV, alpha 5 umls:C1567742 ALPORT SYNDROME, X-LINKED 0.736159760495339 71 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase umls:C1853926 Distal myopathy, Nonaka type 0.736159760495339 57 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6910 TBX5 T-box 5 umls:C0265264 Holt-Oram syndrome 0.735407308702254 39 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 3664 IRF6 interferon regulatory factor 6 umls:C0175697 Van der Woude syndrome 0.735358277743656 46 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C0238198 Gastrointestinal Stromal Tumors 0.735347648398811 275 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 2538 G6PC glucose-6-phosphatase, catalytic subunit umls:C0017920 Glycogen Storage Disease Type I 0.734762304537355 47 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2990 GUSB glucuronidase, beta umls:C0085132 Mucopolysaccharidosis VII 0.734742237644871 56 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7390 UROS uroporphyrinogen III synthase umls:C0162530 Porphyria, Erythropoietic 0.734713273578757 47 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0587248 Costello Syndrome 0.734175228504683 53 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C1854520 MYH9-Related Disorders 0.73389172393459 49 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 445 ASS1 argininosuccinate synthase 1 umls:C0175683 Citrullinemia 0.733862759868476 44 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0010273 Craniofacial Dysostosis 0.733862759868476 41 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 686 BTD biotinidase umls:C0220754 Biotinidase Deficiency 0.733853862694847 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 3081 HGD homogentisate 1,2-dioxygenase umls:C0002066 Alkaptonuria 0.733833795802362 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0812437 Oculodentodigital Dysplasia 0.733608219364496 48 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 825 CAPN3 calpain 3, (p94) umls:C1869123 Limb-girdle muscular dystrophy type 2A 0.733608219364496 54 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7299 TYR tyrosinase umls:C0268494 Oculocutaneous albinism type 1 0.733324714794402 48 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 657 BMPR1A bone morphogenetic protein receptor, type IA umls:C0345893 Juvenile polyposis syndrome 0.733139272141505 32 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0393808 Charcot-Marie-Tooth disease, X-linked, 1 0.733041210224309 46 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3931 LCAT lecithin-cholesterol acyltransferase umls:C0023195 Lecithin Acyltransferase Deficiency 0.7327777725467 30 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 64840 PORCN porcupine homolog (Drosophila) umls:C0016395 Focal Dermal Hypoplasia 0.732670813455874 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 7490 WT1 Wilms tumor 1 umls:C0950121 Denys-Drash Syndrome 0.732494267976606 29 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD, UNIPROT 2632 GBE1 glucan (1,4-alpha-), branching enzyme 1 umls:C0017923 Glycogen Storage Disease Type IV 0.732416272951894 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C0035828 Romano-Ward Syndrome 0.7321327683818 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 8291 DYSF dysferlin umls:C1850889 Limb-girdle muscular dystrophy, type 2B 0.73162368737384 42 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5979 RET ret proto-oncogene umls:C0025268 Multiple Endocrine Neoplasia Type 2a 0.731124532450879 396 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 4693 NDP Norrie disease (pseudoglioma) umls:C0266526 Norrie disease 0.730587731010662 23 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 2201 FBN2 fibrillin 2 umls:C0220668 Congenital contractural arachnodactyly 0.730538700052064 29 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 175 AGA aspartylglucosaminidase umls:C0268225 Aspartylglucosaminuria 0.730489669093466 38 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1476 CSTB cystatin B (stefin B) umls:C0751785 Unverricht-Lundborg Syndrome 0.730206164523372 37 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6452 SH3BP2 SH3-domain binding protein 2 umls:C0008029 Cherubism 0.729893695887165 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 2719 GPC3 glypican 3 umls:C0796154 Simpson-Golabi-Behmel syndrome 0.729639155383185 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8074 FGF23 fibroblast growth factor 23 umls:C0342642 Hypophosphatemic Rickets, Autosomal Dominant 0.729639155383185 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C1845055 ATR-X syndrome 0.729355650813091 33 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5076 PAX2 paired box 2 umls:C1852759 Papillorenal syndrome 0.729355650813091 33 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C0238357 Paralysis, Hyperkalemic Periodic 0.729326686746977 25 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 7508 XPC xeroderma pigmentosum, complementation group C umls:C2752147 Xeroderma Pigmentosum, Complementation Group C 0.729072146242997 33 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4534 MTM1 myotubularin 1 umls:C0410203 Myotubular myopathy, X-linked 0.729072146242997 37 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7369 UMOD uromodulin umls:C0268113 Juvenile gout 0.728788641672904 31 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7415 VCP valosin containing protein umls:C1833662 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 0.728788641672904 31 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 582 BBS1 Bardet-Biedl syndrome 1 umls:C0752166 Bardet-Biedl Syndrome 0.72875967760679 25 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 6926 TBX3 T-box 3 umls:C1866994 Ulnar-mammary syndrome 0.72850513710281 30 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3630 INS insulin umls:C1833104 Diabetes Mellitus, Permanent Neonatal 0.72850513710281 30 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C1833104 Diabetes Mellitus, Permanent Neonatal 0.72850513710281 30 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 201163 FLCN folliculin umls:C0346010 Birt-Hogg-Dube Syndrome 0.72850513710281 31 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0272375 Antithrombin III Deficiency 0.728319694449913 43 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 668 FOXL2 forkhead box L2 umls:C0220663 Blepharophimosis, Ptosis, and Epicanthus Inversus 0.728270663491315 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 4541 ND6 NADH dehydrogenase, subunit 6 (complex I) umls:C0917796 Optic Atrophy, Hereditary, Leber 0.728085220838417 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 1513 CTSK cathepsin K umls:C0238402 Pycnodysostosis 0.727938127962623 29 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5189 PEX1 peroxisomal biogenesis factor 1 umls:C0043459 Zellweger Syndrome 0.727880199830395 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 8398 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) umls:C0270724 Infantile Neuroaxonal Dystrophy 0.727654623392529 27 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 9839 ZEB2 zinc finger E-box binding homeobox 2 umls:C1856113 Mowat-Wilson syndrome 0.727371118822435 30 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 9211 LGI1 leucine-rich, glioma inactivated 1 umls:C1838062 Autosomal Dominant Lateral Temporal Lobe Epilepsy 0.727087614252342 31 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C0343068 Familial cold urticaria 0.727087614252342 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C0268390 Muckle-Wells syndrome 0.727087614252342 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 55612 FERMT1 fermitin family member 1 umls:C0406557 Poikiloderma of Kindler 0.727087614252342 25 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8626 TP63 tumor protein p63 umls:C0406709 Hay-Wells syndrome 0.727087614252342 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2737 GLI3 GLI family zinc finger 3 umls:C0265306 Greig cephalopolysyndactyly syndrome 0.726804109682248 24 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C1275081 Cardiofaciocutaneous syndrome 0.726804109682248 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5476 CTSA cathepsin A umls:C0268233 Neuraminidase deficiency with beta-galactosidase deficiency 0.726520605112154 24 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 27019 DNAI1 dynein, axonemal, intermediate chain 1 umls:C0022521 Kartagener Syndrome 0.726286131500659 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0080024 Piebaldism 0.726237100542061 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 50485 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 umls:C0877024 Schimke immunoosseous dysplasia 0.726237100542061 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 10002 NR2E3 nuclear receptor subfamily 2, group E, member 3 umls:C1849394 Enhanced S-Cone Syndrome 0.726237100542061 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2625 GATA3 GATA binding protein 3 umls:C1840333 Barakat syndrome 0.725953595971967 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7274 TTPA tocopherol (alpha) transfer protein umls:C1848533 Ataxia with vitamin E deficiency 0.725953595971967 25 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 51099 ABHD5 abhydrolase domain containing 5 umls:C0268238 Triglyceride storage disease with impaired long-chain fatty acid oxidation 0.725953595971967 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 9451 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 umls:C0432217 Wolcott-Rallison syndrome 0.725953595971967 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3897 L1CAM L1 cell adhesion molecule umls:C0795953 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome 0.725670091401873 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 779 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit umls:C3714580 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 0.725670091401873 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 11277 TREX1 three prime repair exonuclease 1 umls:C0796126 Aicardi-Goutieres syndrome 0.725670091401873 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2068 ERCC2 excision repair cross-complementation group 2 umls:C0268138 Xeroderma Pigmentosum, Complementation Group D 0.72538658683178 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 10558 SPTLC1 serine palmitoyltransferase, long chain base subunit 1 umls:C0020071 Acrodystrophic neuropathy 0.725103082261686 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1594 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 umls:C0268689 Vitamin D Hydroxylation-Deficient Rickets, Type 1A 0.725103082261686 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 286 ANK1 ankyrin 1, erythrocytic umls:C2674218 Spherocytosis, Type 1 0.725103082261686 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4935 GPR143 G protein-coupled receptor 143 umls:C0342684 Ocular Albinism type 1 0.725103082261686 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 23230 VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) umls:C0393576 Neuroacanthocytosis 0.725103082261686 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3930 LBR lamin B receptor umls:C0030779 Pelger-Huet Anomaly 0.725074118195572 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 3172 HNF4A hepatocyte nuclear factor 4, alpha umls:C0011860 Diabetes Mellitus, Type 2 0.724961370380439 141 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 2512 FTL ferritin, light polypeptide umls:C1853578 Neuroferritinopathy 0.724819577691592 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6927 HNF1A HNF1 homeobox A umls:C1838100 Maturity-Onset Diabetes of the Young, Type 3 0.724819577691592 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6567 SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) umls:C0795889 Allan-Herndon-Dudley syndrome 0.724819577691592 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6609 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal umls:C0268243 Niemann-Pick Disease, Type B 0.724790613625479 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 4286 MITF microphthalmia-associated transcription factor umls:C1860339 Waardenburg syndrome type 2A 0.724536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C0432252 Osteoporosis-pseudoglioma syndrome 0.724536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C0265961 Erythrokeratodermia Variabilis 0.724536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1291 COL6A1 collagen, type VI, alpha 1 umls:C1834674 Bethlem myopathy 0.724536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3736 KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 umls:C1719788 Episodic Ataxia, Type 1 0.724536073121499 27 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 775 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit umls:C1832916 Timothy syndrome 0.724536073121499 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6523 SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 umls:C0268186 Glucose-Galactose Malabsorption 0.724252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1947 EFNB1 ephrin-B1 umls:C0220767 Craniofrontonasal dysplasia 0.724252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 55630 SLC39A4 solute carrier family 39 (zinc transporter), member 4 umls:C0221036 Acrodermatitis enteropathica 0.724252568551405 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2303 FOXC2 forkhead box C2 umls:C0265345 Lymphedema distichiasis syndrome 0.724252568551405 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8139 GAN gigaxonin umls:C1850386 Giant Axonal Neuropathy 0.724252568551405 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4221 MEN1 multiple endocrine neoplasia I umls:C1840402 Hyperparathyroidism 1 0.723969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6584 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 umls:C0342788 Systemic carnitine deficiency 0.723969063981311 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3691 ITGB4 integrin, beta 4 umls:C1856934 Epidermolysis bullosa with pyloric atresia 0.723969063981311 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2121 EVC Ellis van Creveld syndrome umls:C0013903 Ellis-Van Creveld Syndrome 0.723940099915198 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD, UNIPROT 4125 MAN2B1 mannosidase, alpha, class 2B, member 1 umls:C0024748 alpha-Mannosidosis 0.723685559411218 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2542 SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 umls:C0268146 Glycogen Storage Disease IB 0.723685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 778 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit umls:C1848172 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 0.723685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7439 BEST1 bestrophin 1 umls:C2678493 Bestrophinopathy 0.723685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 948 CD36 CD36 molecule (thrombospondin receptor) umls:C1842090 Platelet Glycoprotein IV Deficiency 0.723685559411218 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1674 DES desmin umls:C1832370 Myopathy, Myofibrillar, Desmin-Related 0.723685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6535 SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 umls:C1845862 Creatine deficiency, X-linked 0.723685559411218 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6770 STAR steroidogenic acute regulatory protein umls:C0342474 Lipoid congenital adrenal hyperplasia 0.723685559411218 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 57190 SEPN1 selenoprotein N, 1 umls:C0410180 Rigid spine syndrome 0.723685559411218 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 383 ARG1 arginase 1 umls:C0268548 Hyperargininemia 0.723402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1293 COL6A3 collagen, type VI, alpha 3 umls:C0410179 Scleroatonic muscular dystrophy 0.723402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3908 LAMA2 laminin, alpha 2 umls:C1263858 Muscular dystrophy congenital, merosin negative 0.723402054841124 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7172 TPMT thiopurine S-methyltransferase umls:C0342801 Thiopurine S methyltranferase deficiency 0.723402054841124 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7401 CLRN1 clarin 1 umls:C1568248 USHER SYNDROME, TYPE IIIA 0.723402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 341640 FREM2 FRAS1 related extracellular matrix protein 2 umls:C0265233 Fraser Syndrome 0.723402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5213 PFKM phosphofructokinase, muscle umls:C0017926 Glycogen Storage Disease Type VII 0.723167581229628 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, UNIPROT 3664 IRF6 interferon regulatory factor 6 umls:C0265259 Popliteal Pterygium Syndrome 0.72311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5625 PRODH proline dehydrogenase (oxidase) 1 umls:C0268529 Hyperprolinemia 0.72311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3786 KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 umls:C1852581 Convulsions benign familial neonatal dominant form 0.72311855027103 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 23474 ETHE1 ethylmalonic encephalopathy 1 umls:C1865349 Ethylmalonic encephalopathy 0.72311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2316 FLNA filamin A, alpha umls:C1848213 X-linked periventricular heterotopia 0.72311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3209 HOXA13 homeobox A13 umls:C1841679 Hand foot uterus syndrome 0.72311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3052 HCCS holocytochrome c synthase umls:C0796070 Microphthalmia, syndromic 7 0.72311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3913 LAMB2 laminin, beta 2 (laminin S) umls:C1836876 Pierson syndrome 0.72311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4948 OCA2 oculocutaneous albinism II umls:C0268495 Oculocutaneous albinism type 2 0.72311855027103 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6445 SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) umls:C0410173 Limb-girdle muscular dystrophy, type 2C 0.72311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 26119 LDLRAP1 low density lipoprotein receptor adaptor protein 1 umls:C1863512 Hypercholesterolemia, Autosomal Recessive 0.72311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 9051 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 umls:C1858361 Pyogenic arthritis, pyoderma gangrenosum, and acne 0.722835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 435 ASL argininosuccinate lyase umls:C0268547 Argininosuccinic Aciduria 0.722835045700937 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C1300257 Thanatophoric dysplasia, type 2 0.722835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5080 PAX6 paired box 6 umls:C0344559 Peters anomaly 0.722835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4488 MSX2 msh homeobox 2 umls:C1858160 Craniosynostosis, Type 2 0.722835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2202 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 umls:C1832174 Doyne honeycomb retinal dystrophy 0.722835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 340024 SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 umls:C0018609 Hartnup Disease 0.722835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 50945 TBX22 T-box 22 umls:C1844830 Cleft palate X-linked 0.722835045700937 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1959 EGR2 early growth response 2 umls:C0393818 Charcot-Marie-Tooth disease, Type 4E 0.722551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 35 ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain umls:C0342783 Short chain Acyl CoA dehydrogenase deficiency 0.722551541130843 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2316 FLNA filamin A, alpha umls:C1844696 Oto-palato-digital syndrome, type 2 0.722551541130843 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8200 GDF5 growth differentiation factor 5 umls:C1862103 Brachydactyly type C 0.722551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 22954 TRIM32 tripartite motif containing 32 umls:C0270968 Limb-girdle muscular dystrophy type 2H 0.722551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 161742 SPRED1 sprouty-related, EVH1 domain containing 1 umls:C1969623 Legius syndrome 0.722551541130843 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 285362 SUMF1 sulfatase modifying factor 1 umls:C0268263 Multiple Sulfatase Deficiency Disease 0.722551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7036 TFR2 transferrin receptor 2 umls:C1858664 Hemochromatosis, type 3 0.722551541130843 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 57216 VANGL2 VANGL planar cell polarity protein 2 umls:C0027794 Neural Tube Defects 0.722317067519347 2 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, MGD, UNIPROT 10560 SLC19A2 solute carrier family 19 (thiamine transporter), member 2 umls:C0342287 Thiamine responsive megaloblastic anemia syndrome 0.722268036560749 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5340 PLG plasminogen umls:C1968804 Plasminogen Deficiency, Type I 0.722268036560749 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1277 COL1A1 collagen, type I, alpha 1 umls:C0268362 Osteogenesis imperfecta, type 3 0.722268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6609 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal umls:C0268242 Niemann-Pick Disease, Type A 0.722268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5307 PITX1 paired-like homeodomain 1 umls:C0009081 Clubfoot 0.722268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 197131 UBR1 ubiquitin protein ligase E3 component n-recognin 1 umls:C0175692 Johanson Blizzard syndrome 0.722268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 79813 EHMT1 euchromatic histone-lysine N-methyltransferase 1 umls:C0795833 Kleefstra Syndrome 0.722268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 701 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B umls:C1850343 Mosaic variegated aneuploidy syndrome 0.721984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 760 CA2 carbonic anhydrase II umls:C0345407 Osteopetrosis with renal tubular acidosis 0.721984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C1850155 Osteolysis hereditary multicentric 0.721984531990656 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 umls:C1859727 Arterial calcification of infancy 0.721984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2073 ERCC5 excision repair cross-complementation group 5 umls:C0268141 Xeroderma Pigmentosum, Complementation Group G 0.721984531990656 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3981 LIG4 ligase IV, DNA, ATP-dependent umls:C1847827 LIG4 Syndrome 0.721984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7915 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 umls:C0268631 succinic semialdehyde dehydrogenase deficiency 0.721984531990656 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4158 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) umls:C1859974 Familial Glucocorticoid Deficiency 1 0.721984531990656 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5351 PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 umls:C0268342 Ehlers-Danlos syndrome type 6 0.721984531990656 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3549 IHH indian hedgehog umls:C1862151 Brachydactyly type A1 0.721984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 10683 DLL3 delta-like 3 (Drosophila) umls:C0265343 Jarcho-Levin syndrome 0.721984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 10913 EDAR ectodysplasin A receptor umls:C0406702 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 0.721984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5191 PEX7 peroxisomal biogenesis factor 7 umls:C1859133 Rhizomelic chondrodysplasia punctata, type 1 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C0220685 Achondrogenesis type 2 0.721701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7369 UMOD uromodulin umls:C1859040 Medullary Cystic Kidney Disease 2 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4072 EPCAM epithelial cell adhesion molecule umls:C2750737 Diarrhea 5, With Tufting Enteropathy, Congenital 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2263 FGFR2 fibroblast growth factor receptor 2 umls:C1852406 Cutis Gyrata Syndrome of Beare And Stevenson 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3172 HNF4A hepatocyte nuclear factor 4, alpha umls:C1852093 Maturity-Onset Diabetes of the Young, Type 1 0.721701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8200 GDF5 growth differentiation factor 5 umls:C0265260 Chondrodysplasia, Grebe type 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4920 ROR2 receptor tyrosine kinase-like orphan receptor 2 umls:C1849334 Robinow syndrome, autosomal recessive 0.721701027420562 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8898 MTMR2 myotubularin related protein 2 umls:C1832399 Charcot-Marie-Tooth disease, Type 4B1 0.721701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1879286 Hereditary bundle branch system defect 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 54808 DYM dymeclin umls:C0265286 Dyggve-Melchior-Clausen syndrome 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 79628 SH3TC2 SH3 domain and tetratricopeptide repeats 2 umls:C1866636 Charcot-Marie-Tooth disease, Type 4C 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 23414 ZFPM2 zinc finger protein, FOG family member 2 umls:C0039685 Tetralogy of Fallot 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7021 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) umls:C1868570 Char syndrome 0.721701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 9896 FIG4 FIG4 phosphoinositide 5-phosphatase umls:C1970011 Charcot-Marie-Tooth Disease, Type 4j 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 50617 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 umls:C1864498 Renal tubular acidosis, distal, autosomal recessive 0.721701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 56172 ANKH ANKH inorganic pyrophosphate transport regulator umls:C1852502 Craniometaphyseal Dysplasia, Autosomal Dominant 0.721701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 30061 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 umls:C1853733 Hemochromatosis, type 4 0.721701027420562 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4286 MITF microphthalmia-associated transcription factor umls:C0391816 Tietz syndrome 0.721417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7399 USH2A Usher syndrome 2A (autosomal recessive, mild) umls:C1848634 Usher syndrome, type 2A 0.721417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1203 CLN5 ceroid-lipofuscinosis, neuronal 5 umls:C1850442 Ceroid lipofuscinosis, neuronal 5 0.721417522850468 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4353 MPO myeloperoxidase umls:C0398595 Myeloperoxidase Deficiency 0.721417522850468 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3851 KRT4 keratin 4, type II umls:C1721005 Leukokeratosis, Hereditary Mucosal 0.721417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1289 COL5A1 collagen, type V, alpha 1 umls:C0268335 Ehlers-Danlos syndrome type 1 0.721417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8200 GDF5 growth differentiation factor 5 umls:C1832702 Brachydactyly type A2 0.721417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 37 ACADVL acyl-CoA dehydrogenase, very long chain umls:C0342784 VLCAD deficiency 0.721417522850468 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6338 SCNN1B sodium channel, non voltage gated 1 beta subunit umls:C0221043 Liddle Syndrome 0.721417522850468 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 10999 SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 umls:C1837610 Ichthyosis prematurity syndrome 0.721417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 23218 NBEAL2 neurobeachin-like 2 umls:C0272302 Gray Platelet Syndrome 0.721417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 10516 FBLN5 fibulin 5 umls:C0268351 Cutis Laxa, Autosomal Recessive, Type I 0.721417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 617 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like umls:C1864002 Finnish lethal neonatal metabolic syndrome 0.721417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 285590 SH3PXD2B SH3 and PX domains 2B umls:C1855305 Ter Haar syndrome 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4860 PNP purine nucleoside phosphorylase umls:C0268125 Purine Nucleoside Phosphorylase Deficiency 0.721134018280375 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3315 HSPB1 heat shock 27kDa protein 1 umls:C1847823 Charcot-Marie-Tooth disease, Type 2F 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1278 COL1A2 collagen, type I, alpha 2 umls:C0268362 Osteogenesis imperfecta, type 3 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 866 SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 umls:C1852529 Corticosteroid-Binding Globulin Deficiency 0.721134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1301 COL11A1 collagen, type XI, alpha 1 umls:C1858084 Stickler syndrome, type 2 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4882 NPR2 natriuretic peptide receptor 2 umls:C1864356 Acromesomelic dysplasia, Maroteaux type 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1289 COL5A1 collagen, type V, alpha 1 umls:C0268336 Ehlers-Danlos syndrome type 2 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2617 GARS glycyl-tRNA synthetase umls:C1832274 Charcot-Marie-Tooth disease, Type 2D 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7249 TSC2 tuberous sclerosis 2 umls:C1860707 Tuberous Sclerosis 2 0.721134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 10577 NPC2 Niemann-Pick disease, type C2 umls:C1843366 Niemann-Pick disease, type C2 0.721134018280375 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 374654 KIF7 kinesin family member 7 umls:C0796147 Acrocallosal Syndrome 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 162417 NAGS N-acetylglutamate synthase umls:C0268543 N-acetyl glutamate synthetase deficiency 0.721134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 79648 MCPH1 microcephalin 1 umls:C1855081 Microcephaly, Primary Autosomal Recessive, 1 0.721134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5274 SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 umls:C1858680 Familial encephalopathy with neuroserpin inclusion bodies 0.721134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 9499 MYOT myotilin umls:C1836607 Myotilinopathy 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7227 TRPS1 trichorhinophalangeal syndrome I umls:C0432233 Giedion syndrome 0.721134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 845 CASQ2 calsequestrin 2 (cardiac muscle) umls:C2677794 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 0.720850513710281 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1373 CPS1 carbamoyl-phosphate synthase 1, mitochondrial umls:C0751753 Carbamoyl-Phosphate Synthase I Deficiency Disease 0.720850513710281 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 208 AKT2 v-akt murine thymoma viral oncogene homolog 2 umls:C0011860 Diabetes Mellitus, Type 2 0.720850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3000 GUCY2D guanylate cyclase 2D, membrane (retina-specific) umls:C1866293 Retinal cone dystrophy 2 0.720850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2395 FXN frataxin umls:C1856689 Friedreich Ataxia 1 0.720850513710281 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 54808 DYM dymeclin umls:C1846431 Smith-McCort Dysplasia 0.720850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6444 SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) umls:C1832525 Limb-girdle muscular dystrophy type 2F 0.720850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8322 FZD4 frizzled class receptor 4 umls:C1851402 Exudative vitreoretinopathy 1 0.720850513710281 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 27130 INVS inversin umls:C1865872 Nephronophthisis 2 0.720850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8546 AP3B1 adaptor-related protein complex 3, beta 1 subunit umls:C1842362 Hermansky Pudlak syndrome 2 0.720567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2304 FOXE1 forkhead box E1 umls:C1855794 Bamforth syndrome 0.720567009140187 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7476 WNT7A wingless-type MMTV integration site family, member 7A umls:C1856728 Fuhrmann syndrome 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6309 SC5D sterol-C5-desaturase umls:C1846421 Lathosterolosis 0.720567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6496 SIX3 SIX homeobox 3 umls:C1834877 Holoprosencephaly 2 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C1835437 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1282 COL4A1 collagen, type IV, alpha 1 umls:C1843512 Brain Small Vessel Disease with Hemorrhage 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4747 NEFL neurofilament, light polypeptide umls:C1843225 Charcot-Marie-Tooth disease, Type 2E 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7068 THRB thyroid hormone receptor, beta umls:C2937288 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2316 FLNA filamin A, alpha umls:C0265251 Oto-Palato-digital syndrome type 1 0.720567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3239 HOXD13 homeobox D13 umls:C1861367 Synpolydactyly 1 0.720567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C2750061 Hypokalemic Periodic Paralysis, Type 2 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 54345 SOX18 SRY (sex determining region Y)-box 18 umls:C1843004 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 0.720567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8200 GDF5 growth differentiation factor 5 umls:C1856738 Fibular hypoplasia and complex brachydactyly 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2703 GJA8 gap junction protein, alpha 8, 50kDa umls:C1861828 Cataract, Zonular Pulverulent 1 0.720567009140187 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1184 CLCN5 chloride channel, voltage-sensitive 5 umls:C1848336 Dent disease 1 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3651 PDX1 pancreatic and duodenal homeobox 1 umls:C1833382 Maturity-Onset Diabetes of the Young, Type 4 0.720567009140187 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 23418 CRB1 crumbs family member 1, photoreceptor morphogenesis associated umls:C1838647 Retinitis Pigmentosa 12 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C1857277 Donnai-Barrow syndrome 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1300 COL10A1 collagen, type X, alpha 1 umls:C0265289 Metaphyseal chondrodysplasia Schmid type 0.720567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3373 HYAL1 hyaluronoglucosaminidase 1 umls:C1291490 Hyaluronidase Deficiency 0.720567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2593 GAMT guanidinoacetate N-methyltransferase umls:C0574080 Guanidinoacetate methyltransferase deficiency 0.720567009140187 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 51 ACOX1 acyl-CoA oxidase 1, palmitoyl umls:C1849678 Peroxisomal ACYL-COA oxidase deficiency 0.720567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6443 SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) umls:C1858593 Limb-girdle muscular dystrophy, type 2E 0.720567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 79158 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits umls:C2673377 Mucolipidosis II Alpha Beta 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 91147 TMEM67 transmembrane protein 67 umls:C1846357 Meckel syndrome type 3 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 57165 GJC2 gap junction protein, gamma 2, 47kDa umls:C1837355 Leukodystrophy, Hypomyelinating, 2 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1643 DDB2 damage-specific DNA binding protein 2, 48kDa umls:C1848411 Xeroderma Pigmentosum, Complementation Group E 0.720567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 121512 FGD4 FYVE, RhoGEF and PH domain containing 4 umls:C1836336 Charcot-Marie-Tooth Disease, Type 4H 0.720567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1441 CSF3R colony stimulating factor 3 receptor (granulocyte) umls:C0543669 Neutrophilia, Hereditary 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2177 FANCD2 Fanconi anemia, complementation group D2 umls:C3160738 FANCONI ANEMIA, COMPLEMENTATION GROUP D2 0.720567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 50943 FOXP3 forkhead box P3 umls:C0342288 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 0.720567009140187 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 9499 MYOT myotilin umls:C1866785 MYOPATHY, SPHEROID BODY 0.720567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5429 POLH polymerase (DNA directed), eta umls:C1848410 Xeroderma pigmentosum, variant type 0.720567009140187 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7287 TULP1 tubby like protein 1 umls:C1838603 Retinitis Pigmentosa 14 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8443 GNPAT glyceronephosphate O-acyltransferase umls:C1857242 Rhizomelic chondrodysplasia punctata, type 2 0.720283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4038 LRP4 low density lipoprotein receptor-related protein 4 umls:C1859309 Syndactyly Cenani Lenz type 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5626 PROP1 PROP paired-like homeobox 1 umls:C0878683 Pituitary Hormone Deficiency, Combined, 2 0.720283504570094 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6792 CDKL5 cyclin-dependent kinase-like 5 umls:C1839333 Epileptic Encephalopathy, Early Infantile, 2 0.720283504570094 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4000 LMNA lamin A/C umls:C2750785 Muscular Dystrophy, Congenital, Lmna-Related 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7157 TP53 tumor protein p53 umls:C1835398 Sarcoma family syndrome of Li and Fraumeni 0.720283504570094 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 5660 PSAP prosaposin umls:C0268262 Metachromatic Leukodystrophy due to Saposin B Deficiency 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 7299 TYR tyrosinase umls:C1847024 Oculocutaneous albinism type 1B 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2760 GM2A GM2 ganglioside activator umls:C0268275 Tay-Sachs Disease, AB Variant 0.720283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2741 GLRA1 glycine receptor, alpha 1 umls:C1835614 Hyperexplexia hereditary 0.720283504570094 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 1296 COL8A2 collagen, type VIII, alpha 2 umls:C1850959 Corneal dystrophy, Fuchs' endothelial, 1 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6697 SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) umls:C0268468 Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 0.720283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4292 MLH1 mutL homolog 1 umls:C1333991 Lynch Syndrome II 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8200 GDF5 growth differentiation factor 5 umls:C1832708 Multiple synostoses syndrome 2 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2978 GUCA1A guanylate cyclase activator 1A (retina) umls:C1865869 Cone Dystrophy 3 0.720283504570094 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 3758 KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 umls:C1855849 Bartter syndrome, antenatal , type 2 0.720283504570094 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 675 BRCA2 breast cancer 2, early onset umls:C1838457 Fanconi Anemia, Complementation Group D1 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2998 GYS2 glycogen synthase 2 (liver) umls:C1855861 Glycogen Storage Disease 0, Liver 0.720283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6101 RP1 retinitis pigmentosa 1 (autosomal dominant) umls:C0220701 Retinitis pigmentosa 1 0.720283504570094 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 4693 NDP Norrie disease (pseudoglioma) umls:C1844579 Exudative Vitreoretinopathy, Familial, X-Linked Recessive 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6557 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 umls:C1866495 Bartter syndrome, antenatal type 1 0.720283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1859062 Long Qt Syndrome 3 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6121 RPE65 retinal pigment epithelium-specific protein 65kDa umls:C1859844 Amaurosis congenita of Leber, type 2 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 158326 FREM1 FRAS1 related extracellular matrix 1 umls:C1855425 Marles Greenberg Persaud syndrome 0.720283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 26121 PRPF31 pre-mRNA processing factor 31 umls:C1838601 Retinitis Pigmentosa 11 0.720283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 2132 EXT2 exostosin glycosyltransferase 2 umls:C1851413 EXOSTOSES, MULTIPLE, TYPE II 0.720283504570094 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 60386 SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 umls:C1846648 Amish lethal microcephaly 0.720283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 23746 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 umls:C1858386 Leber Congenital Amaurosis 4 0.720283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 6683 SPAST spastin umls:C1866855 Spastic paraplegia 4, autosomal dominant 0.720283504570094 27 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 51151 SLC45A2 solute carrier family 45, member 2 umls:C1847836 Oculocutaneous Albinism, Type IV 0.720283504570094 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD, UNIPROT 8540 AGPS alkylglycerone phosphate synthase umls:C1838612 Rhizomelic chondrodysplasia punctata, type 3 0.72 3 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7084 TK2 thymidine kinase 2, mitochondrial umls:C3149750 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 0.72 4 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1200 TPP1 tripeptidyl peptidase I umls:C1876161 Ceroid Lipofuscinosis, Neuronal, 2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 80184 CEP290 centrosomal protein 290kDa umls:C1857780 Joubert syndrome 5 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4593 MUSK muscle, skeletal, receptor tyrosine kinase umls:C1837091 Myasthenic syndrome, congenital, type Id 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4148 MATN3 matrilin 3 umls:C1846843 Epiphyseal dysplasia, multiple, 5 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 9129 PRPF3 pre-mRNA processing factor 3 umls:C1832378 Retinitis Pigmentosa 18 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3060 HCRT hypocretin (orexin) neuropeptide precursor umls:C1834372 Narcolepsy 1 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 23095 KIF1B kinesin family member 1B umls:C1861678 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7547 ZIC3 Zic family member 3 umls:C1844020 Heterotaxy, visceral, X-linked 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 11081 KERA keratocan umls:C1857574 Cornea Plana 2 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 11155 LDB3 LIM domain binding 3 umls:C1832244 Cardiomyopathy, Dilated, 1C 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7007 TECTA tectorin alpha umls:C1832187 Deafness, Autosomal Dominant 12 0.72 8 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4094 MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog umls:C1857768 Cataract, Pulverulent, Juvenile-Onset 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 9927 MFN2 mitofusin 2 umls:C1836485 Charcot-Marie-Tooth Disease, Axonal, Type 2A2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 9227 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) umls:C2750063 Leber Congenital Amaurosis 14 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 9217 VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C umls:C1837728 Amyotrophic Lateral Sclerosis 8 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7546 ZIC2 Zic family member 2 umls:C1864827 Holoprosencephaly 5 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 9215 LARGE like-glycosyltransferase umls:C1837229 Muscular Dystrophy, Congenital, Type 1D 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 9215 LARGE like-glycosyltransferase umls:C3150414 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 23554 TSPAN12 tetraspanin 12 umls:C2750079 Exudative Vitreoretinopathy 5 0.72 3 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 2162 F13A1 coagulation factor XIII, A1 polypeptide umls:C2750514 Factor Xiii, A Subunit, Deficiency Of 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7038 TG thyroglobulin umls:C0342194 Thyroid Dyshormonogenesis 3 0.72 5 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C1836080 Stickler Syndrome, Type I, Nonsyndromic Ocular 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1410 CRYAB crystallin, alpha B umls:C1837317 Alpha-B Crystallinopathy 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4000 LMNA lamin A/C umls:C1854154 Charcot-Marie-Tooth disease, Type 2B1 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C2675212 Spherocytosis, Type 4 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C1969057 Noonan Syndrome 5 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3315 HSPB1 heat shock 27kDa protein 1 umls:C2608087 Neuronopathy, Distal Hereditary Motor, Type IIB 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1536 CYBB cytochrome b-245, beta polypeptide umls:C1844376 Granulomatous Disease, Chronic, X-Linked 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 351 APP amyloid beta (A4) precursor protein umls:C2751536 Cerebral Amyloid Angiopathy, App-Related 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 2934 GSN gelsolin umls:C1622345 Meretoja syndrome 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 2821 GPI glucose-6-phosphate isomerase umls:C3150730 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 0.72 6 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7170 TPM3 tropomyosin 3 umls:C1836448 Nemaline myopathy 1 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1420 CRYGC crystallin, gamma C umls:C1852438 Cataract, Coppock-Like 0.72 3 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1509 CTSD cathepsin D umls:C1864669 Ceroid Lipofuscinosis, Neuronal, 10 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6010 RHO rhodopsin umls:C1864869 Night Blindness, Congenital Stationary, Autosomal Dominant 1 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6010 RHO rhodopsin umls:C3151001 Retinitis Pigmentosa 4 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3075 CFH complement factor H umls:C1853147 Macular Degeneration, Age-Related, 4 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7345 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) umls:C3150899 PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C1854467 Spastic paraplegia 13, autosomal dominant 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4633 MYL2 myosin, light chain 2, regulatory, cardiac, slow umls:C1834460 Cardiomyopathy, Familial Hypertrophic, 10 0.72 5 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C2750467 Cardiomyopathy, Familial Hypertrophic, 14 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1302 COL11A2 collagen, type XI, alpha 2 umls:C1866095 Deafness, Autosomal Dominant 13 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1908 EDN3 endothelin 3 umls:C2750457 Waardenburg Syndrome, Type 4b 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5551 PRF1 perforin 1 (pore forming protein) umls:C1863727 Hemophagocytic lymphohistiocytosis, familial, 2 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 653361 NCF1 neutrophil cytosolic factor 1 umls:C1856251 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3728 JUP junction plakoglobin umls:C1969081 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3691 ITGB4 integrin, beta 4 umls:C0268374 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1674 DES desmin umls:C1858154 Cardiomyopathy, Dilated, 1i 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5961 PRPH2 peripherin 2 (retinal degeneration, slow) umls:C1842475 Retinitis Pigmentosa 7 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4487 MSX1 msh homeobox 1 umls:C1837210 Orofacial Cleft 5 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C2673759 Deafness, Autosomal Recessive 1A 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5158 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta umls:C1876182 Night Blindness, Congenital Stationary, Autosomal Dominant 2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 94 ACVRL1 activin A receptor type II-like 1 umls:C1838163 Osler-rendu-weber syndrome 2 0.72 10 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C1868595 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C1837915 Erythrocytosis, Familial, 2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 2626 GATA4 GATA binding protein 4 umls:C1842778 Atrial septal defect 2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7139 TNNT2 troponin T type 2 (cardiac) umls:C1861864 Cardiomyopathy, Familial Hypertrophic, 2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7139 TNNT2 troponin T type 2 (cardiac) umls:C1832243 Cardiomyopathy, Dilated, 1D 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5255 PHKA1 phosphorylase kinase, alpha 1 (muscle) umls:C1845151 Glycogen Storage Disease, Type IXD 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5456 POU3F4 POU class 3 homeobox 4 umls:C1844678 Progressive hearing loss stapes fixation 0.72 3 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1311 COMP cartilage oligomeric matrix protein umls:C1838280 Epiphyseal dysplasia, multiple, 1 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 8048 CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) umls:C1843808 Cardiomyopathy, Dilated, 1M 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 8048 CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) umls:C2677491 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5538 PPT1 palmitoyl-protein thioesterase 1 umls:C1850451 Ceroid Lipofuscinosis, Neuronal, 1 0.72 4 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3295 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 umls:C0342870 Bifunctional peroxisomal enzyme deficiency 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1186 CLCN7 chloride channel, voltage-sensitive 7 umls:C1969106 Osteopetrosis, Autosomal Recessive 4 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5083 PAX9 paired box 9 umls:C1970291 Tooth Agenesis, Selective, 3 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 859 CAV3 caveolin 3 umls:C1832567 Muscular Dystrophy, Limb-Girdle, Type 1C 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5354 PLP1 proteolipid protein 1 umls:C1839264 Spastic paraplegia 2, X-linked 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 58 ACTA1 actin, alpha 1, skeletal muscle umls:C1834336 Nemaline myopathy 3 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5805 PTS 6-pyruvoyltetrahydropterin synthase umls:C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency 0.72 9 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1145 CHRNE cholinergic receptor, nicotinic, epsilon (muscle) umls:C1837091 Myasthenic syndrome, congenital, type Id 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6324 SCN1B sodium channel, voltage gated, type I beta subunit umls:C1858672 Generalized Epilepsy With Febrile Seizures Plus, Type 1 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6654 SOS1 son of sevenless homolog 1 (Drosophila) umls:C1853120 Noonan Syndrome 4 0.72 6 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 494513 DFNB59 deafness, autosomal recessive 59 umls:C1857744 Deafness, Autosomal Recessive 59 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C1865020 Short QT Syndrome 1 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4647 MYO7A myosin VIIA umls:C1838701 Deafness, Autosomal Recessive 2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 10312 TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 umls:C1850127 Osteopetrosis, Autosomal Recessive 1 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 10381 TUBB3 tubulin, beta 3 class III umls:C2748801 Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3914 LAMB3 laminin, beta 3 umls:C0268374 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 27232 GNMT glycine N-methyltransferase umls:C1847720 Glycine N-Methyltransferase Deficiency 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4607 MYBPC3 myosin binding protein C, cardiac umls:C1861862 Cardiomyopathy, Familial Hypertrophic, 4 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5339 PLEC plectin umls:C0432317 Epidermolysis bullosa simplex, Ogna type 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6469 SHH sonic hedgehog umls:C1840529 Holoprosencephaly 3 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 124590 USH1G Usher syndrome 1G (autosomal recessive) umls:C1847089 Usher Syndrome, Type IG 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 91147 TMEM67 transmembrane protein 67 umls:C1853153 Joubert syndrome 6 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 120892 LRRK2 leucine-rich repeat kinase 2 umls:C1846862 PARKINSON DISEASE 8, AUTOSOMAL DOMINANT 0.72 10 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 10594 PRPF8 pre-mRNA processing factor 8 umls:C1838702 Retinitis Pigmentosa 13 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 148738 HFE2 hemochromatosis type 2 (juvenile) umls:C1865614 Hemochromatosis, Type 2A 0.72 3 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 253827 MSRB3 methionine sulfoxide reductase B3 umls:C2239351 DEAFNESS, AUTOSOMAL RECESSIVE 74 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 259266 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) umls:C1837501 Microcephaly, Primary Autosomal Recessive, 5 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 54806 AHI1 Abelson helper integration site 1 umls:C1837713 Joubert syndrome 3 0.72 4 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 246213 SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8 umls:C1854158 Deafness, Autosomal Dominant 25 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 256471 MFSD8 major facilitator superfamily domain containing 8 umls:C1838571 Ceroid Lipofuscinosis, Neuronal, 7 0.72 5 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 117531 TMC1 transmembrane channel-like 1 umls:C1832978 Deafness, Autosomal Recessive 7 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 117531 TMC1 transmembrane channel-like 1 umls:C1847626 Deafness, Autosomal Dominant 36 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1767 DNAH5 dynein, axonemal, heavy chain 5 umls:C1837618 Primary ciliary dyskinesia, 3 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 220074 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing umls:C1969621 Deafness, Autosomal Recessive 63 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7273 TTN titin umls:C1858763 Cardiomyopathy, Dilated, 1g 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7809 BSND barttin CLCNK-type chloride channel accessory beta subunit umls:C1865270 Bartter Syndrome, Type 4A 0.72 3 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6444 SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) umls:C1847667 Cardiomyopathy, Dilated, 1l 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C1832931 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 8701 DNAH11 dynein, axonemal, heavy chain 11 umls:C2678473 Ciliary Dyskinesia, Primary, 7 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 170302 ARX aristaless related homeobox umls:C1846171 Lissencephaly, X-Linked, 2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 170302 ARX aristaless related homeobox umls:C3463992 Epileptic Encephalopathy, Early Infantile, 1 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 56652 C10orf2 chromosome 10 open reading frame 2 umls:C1836439 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 2672 GFI1 growth factor independent 1 transcription repressor umls:C2751288 Neutropenia, Severe Congenital, Autosomal Dominant 2 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 5308 PITX2 paired-like homeodomain 2 umls:C3714873 AXENFELD-RIEGER SYNDROME, TYPE 1 0.72 5 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 21 ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 umls:C1970456 Surfactant Metabolism Dysfunction, Pulmonary, 3 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 83605 CCM2 cerebral cavernous malformation 2 umls:C1864041 Cerebral Cavernous Malformations 2 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 83700 JAM3 junctional adhesion molecule 3 umls:C3151000 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 65018 PINK1 PTEN induced putative kinase 1 umls:C1853833 Parkinson Disease 6, Autosomal Recessive Early-Onset 0.72 17 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 64241 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 umls:C0342907 Sitosterolemia 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 64240 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 umls:C0342907 Sitosterolemia 0.72 4 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 64072 CDH23 cadherin-related 23 umls:C1832394 Deafness, Autosomal Recessive 12 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 8626 TP63 tumor protein p63 umls:C1858562 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 79147 FKRP fukutin related protein umls:C1846672 Muscular Dystrophy, Limb-Girdle, Type 2I 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 79147 FKRP fukutin related protein umls:C3150413 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 9381 OTOF otoferlin umls:C1832828 Deafness, Autosomal Recessive 9 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7827 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) umls:C1868672 Nephrotic syndrome, idiopathic, steroid-resistant 0.72 11 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 50506 DUOX2 dual oxidase 2 umls:C1846632 Thyroid Dyshormonogenesis 6 0.72 3 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 55775 TDP1 tyrosyl-DNA phosphodiesterase 1 umls:C1846574 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 54982 CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant umls:C1866282 Ceroid Lipofuscinosis, Neuronal, 6 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 55800 SCN3B sodium channel, voltage gated, type III beta subunit umls:C2751088 Brugada Syndrome 7 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 54413 NLGN3 neuroligin 3 umls:C1845540 AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 57560 IFT80 intraflagellar transport 80 umls:C1970005 Asphyxiating Thoracic Dystrophy 2 0.72 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 8803 SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit umls:C2749864 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 1789 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta umls:C0398788 Immunodeficiency syndrome, variable 0.72 5 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 9499 MYOT myotilin umls:C1834659 Muscular dystrophy, limb-girdle, type 1A 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 51422 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit umls:C1833236 Cardiomyopathy, Familial Hypertrophic, 6 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 51168 MYO15A myosin XVA umls:C1838263 Deafness, Autosomal Recessive 3 0.72 3 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 4646 MYO6 myosin VI umls:C1843028 Deafness, Autosomal Recessive 37 0.72 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 6687 SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) umls:C1846564 Spastic Paraplegia 7, Autosomal Recessive 0.72 2 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 7225 TRPC6 transient receptor potential cation channel, subfamily C, member 6 umls:C1858915 Focal Segmental Glomerulosclerosis 2 0.72 3 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD, UNIPROT 3953 LEPR leptin receptor umls:C0028754 Obesity 0.713376199224331 173 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD, RGD 5979 RET ret proto-oncogene umls:C0031511 Pheochromocytoma 0.703862992631231 141 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, RGD, UNIPROT 7490 WT1 Wilms tumor 1 umls:C0027708 Wilms Tumor 0.701437182013192 204 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 3717 JAK2 Janus kinase 2 umls:C0032463 Polycythemia Vera 0.7 341 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 4137 MAPT microtubule-associated protein tau umls:C0038868 Supranuclear Palsy, Progressive 0.696619388329465 108 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 6928 HNF1B HNF1 homeobox B umls:C0011860 Diabetes Mellitus, Type 2 0.691781039215895 40 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 2322 FLT3 fms-related tyrosine kinase 3 umls:C0023467 Leukemia, Myeloid, Acute 0.69 653 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 6390 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) umls:C0031511 Pheochromocytoma 0.688241277209965 81 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 4137 MAPT microtubule-associated protein tau umls:C0236642 Pick Disease of the Brain 0.682522577064729 246 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C0031511 Pheochromocytoma 0.679568491801516 83 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C0031511 Pheochromocytoma 0.674650852192728 81 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 27032 ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 umls:C0085106 Pemphigus, Benign Familial 0.668073784560426 53 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0040015 Thrombasthenia 0.665131291231303 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 5979 RET ret proto-oncogene umls:C1833921 Familial medullary thyroid carcinoma 0.662809190084144 151 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3717 JAK2 Janus kinase 2 umls:C0023467 Leukemia, Myeloid, Acute 0.66246064421606 41 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 4771 NF2 neurofibromin 2 (merlin) umls:C0027832 Neurofibromatosis 2 0.657092340268899 81 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 1593 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 umls:C0238052 Xanthomatosis, Cerebrotendinous 0.656085836509194 71 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 3674 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) umls:C0040015 Thrombasthenia 0.654971885121304 51 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 5837 PYGM phosphorylase, glycogen, muscle umls:C0017924 Glycogen Storage Disease Type V 0.654424942873601 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 224 ALDH3A2 aldehyde dehydrogenase 3 family, member A2 umls:C0037231 Sjogren-Larsson Syndrome 0.652752879519152 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 1075 CTSC cathepsin C umls:C0030360 Papillon-Lefevre Disease 0.652654817601956 47 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0403814 Congenital bilateral aplasia of vas deferens 0.649299032636844 89 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 5644 PRSS1 protease, serine, 1 (trypsin 1) umls:C0238339 Hereditary pancreatitis 0.649200970719648 106 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2643 GCH1 GTP cyclohydrolase 1 umls:C1851920 Dystonia, Dopa-responsive 0.648066952439273 100 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6934 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) umls:C0011860 Diabetes Mellitus, Type 2 0.647658039453105 305 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C1563715 Andersen Syndrome 0.64704265433231 44 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C1861171 Thrombophilia due to Activated Protein C Resistance 0.646649429588805 94 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7291 TWIST1 twist family bHLH transcription factor 1 umls:C0010278 Craniosynostoses 0.645575611985884 41 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 4952 OCRL oculocerebrorenal syndrome of Lowe umls:C0028860 Oculocerebrorenal Syndrome 0.645428519110089 65 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 2492 FSHR follicle stimulating hormone receptor umls:C0085083 Ovarian Hyperstimulation Syndrome 0.645234179283563 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 2160 F11 coagulation factor XI umls:C0015523 Factor XI Deficiency 0.645127220192737 35 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 959 CD40LG CD40 ligand umls:C0398689 Hyper-IgM Immunodeficiency Syndrome, Type 1 0.644948402168243 90 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0038644 Sudden Infant Death 0.644823160192799 23 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 64324 NSD1 nuclear receptor binding SET domain protein 1 umls:C0175695 Sotos Syndrome 0.644244981333756 62 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 412 STS steroid sulfatase (microsomal), isozyme S umls:C0079588 Ichthyosis, X-Linked 0.642162387425904 71 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0015499 Factor V Deficiency 0.6402870870713 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0015503 Factor VII Deficiency 0.639934484650124 44 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase umls:C0017922 Glycogen Storage Disease Type III 0.63952395409672 36 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 3561 IL2RG interleukin 2 receptor, gamma umls:C1279481 X-Linked Combined Immunodeficiency Diseases 0.63901487308876 51 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 6473 SHOX short stature homeobox umls:C0265309 Leri-Weil syndrome 0.638144292485995 64 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 80025 PANK2 pantothenate kinase 2 umls:C0018523 Pantothenate Kinase-Associated Neurodegeneration 0.637235850643486 44 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 3858 KRT10 keratin 10, type I umls:C0079153 Hyperkeratosis, Epidermolytic 0.636952346073393 42 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 773 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit umls:C1720416 Episodic ataxia with nystagmus 0.635358277743656 47 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 122042 RXFP2 relaxin/insulin-like family peptide receptor 2 umls:C0010417 Cryptorchidism 0.635143871024645 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0410529 Hypochondroplasia 0.635025742214965 53 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1180 CLCN1 chloride channel, voltage-sensitive 1 umls:C2936781 Myotonia congenita 0.634742237644871 52 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 79577 CDC73 cell division cycle 73 umls:C1704981 Hyperparathyroidism 2 0.634458733074777 51 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2271 FH fumarate hydratase umls:C1708350 Reed's syndrome 0.634175228504683 51 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 348 APOE apolipoprotein E umls:C2673196 Lipoprotein Glomerulopathy 0.633989785851786 33 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 3643 INSR insulin receptor umls:C0265344 Donohue Syndrome 0.633940754893188 41 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 1636 ACE angiotensin I converting enzyme umls:C0027051 Myocardial Infarction 0.633927212510601 217 Biomarker, GeneticVariation, Therapeutic BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 2731 GLDC glycine dehydrogenase (decarboxylating) umls:C0751748 Hyperglycinemia, Nonketotic 0.63388282676096 27 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 229 ALDOB aldolase B, fructose-bisphosphate umls:C0016751 Fructose Intolerance 0.633824898628733 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 2147 F2 coagulation factor II (thrombin) umls:C0020640 Hypoprothrombinemias 0.633570358124753 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 4591 TRIM37 tripartite motif containing 37 umls:C0524582 Mulibrey Nanism 0.633492363100041 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 6901 TAZ tafazzin umls:C0574083 Barth Syndrome 0.633324714794402 49 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3897 L1CAM L1 cell adhesion molecule umls:C0265216 Hydrocephalus, X-linked 0.633041210224309 46 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1896 EDA ectodysplasin A umls:C0162359 Ectodermal Dysplasia 1, Anhidrotic 0.632757705654215 45 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 51119 SBDS Shwachman-Bodian-Diamond syndrome umls:C0272170 Shwachman syndrome 0.632757705654215 45 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4538 ND4 NADH dehydrogenase, subunit 4 (complex I) umls:C0917796 Optic Atrophy, Hereditary, Leber 0.63238682034842 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 7450 VWF von Willebrand factor umls:C1264041 von Willebrand Disease, Type 3 0.632190696514028 43 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4292 MLH1 mutL homolog 1 umls:C0265325 Turcot syndrome 0.632190696514028 43 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C1690006 Lattice corneal dystrophy type 1 0.631956222902532 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 594 BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide umls:C0024776 Maple Syrup Urine Disease 0.631869330704191 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 7454 WAS Wiskott-Aldrich syndrome umls:C1839163 Thrombocytopenia 1 0.631389213762345 32 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 8086 AAAS achalasia, adrenocortical insufficiency, alacrimia umls:C0271742 Achalasia Addisonianism Alacrimia syndrome 0.630489669093466 40 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4547 MTTP microsomal triglyceride transfer protein umls:C0000744 Abetalipoproteinemia 0.630460705027352 29 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 1482 NKX2-5 NK2 homeobox 5 umls:C0039685 Tetralogy of Fallot 0.630353257399166 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 112476 PRRT2 proline-rich transmembrane protein 2 umls:C1868682 Familial paroxysmal dystonia 0.630206164523372 36 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 593 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide umls:C0024776 Maple Syrup Urine Disease 0.630197267349743 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 103 ADAR adenosine deaminase, RNA-specific umls:C0406775 Dyschromatosis symmetrica hereditaria 1 0.629922659953278 35 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7040 TGFB1 transforming growth factor, beta 1 umls:C0011989 Camurati-Engelmann Syndrome 0.629659222275669 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 3859 KRT12 keratin 12, type I umls:C0339277 Corneal Dystrophy, Juvenile Epithelial of Meesmann 0.629552263184844 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 843 CASP10 caspase 10, apoptosis-related cysteine peptidase umls:C0024305 Lymphoma, Non-Hodgkin 0.629473779622772 4 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 1756 DMD dystrophin umls:C3714570 Dilated cardiomyopathy 3B 0.629355650813091 33 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3857 KRT9 keratin 9, type I umls:C1721006 Keratoderma, Palmoplantar, Epidermolytic 0.629355650813091 38 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23064 SETX senataxin umls:C1853761 Spinocerebellar ataxia, autosomal recessive 1 0.629355650813091 33 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7249 TSC2 tuberous sclerosis 2 umls:C0041341 Tuberous Sclerosis 0.629308792281213 265 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 182 JAG1 jagged 1 umls:C0039685 Tetralogy of Fallot 0.628935734548698 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 1406 CRX cone-rod homeobox umls:C0035334 Retinitis Pigmentosa 0.628837672631502 24 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 5205 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 umls:C0268312 Cholestasis, progressive familial intrahepatic 1 0.628788641672904 31 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 212 ALAS2 5'-aminolevulinate synthase 2 umls:C0221018 X-linked sideroblastic anemia 0.628788641672904 37 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2131 EXT1 exostosin glycosyltransferase 1 umls:C0008479 Chondrosarcoma 0.628730713540676 13 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 2161 F12 coagulation factor XII (Hageman factor) umls:C0015526 Factor XII Deficiency 0.628574234953893 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, UNIPROT 8085 KMT2D lysine (K)-specific methyltransferase 2D umls:C0796004 Kabuki syndrome 0.628554168061408 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 26278 SACS sacsin molecular chaperone umls:C1849140 Spastic ataxia Charlevoix-Saguenay type 0.62850513710281 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5373 PMM2 phosphomannomutase 2 umls:C0349653 Congenital disorder of glycosylation type 1A 0.627938127962623 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1584 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 umls:C0268292 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency 0.627938127962623 29 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23209 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 umls:C1858854 Megalencephalic leukoencephalopathy with subcortical cysts 0.627938127962623 29 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2639 GCDH glutaryl-CoA dehydrogenase umls:C0268595 Glutaric aciduria 1 0.627938127962623 31 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 132884 EVC2 Ellis van Creveld syndrome 2 umls:C0013903 Ellis-Van Creveld Syndrome 0.627880199830395 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 3973 LHCGR luteinizing hormone/choriogonadotropin receptor umls:C0342549 Familial Testotoxicosis 0.627703654351127 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 501 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 umls:C1849508 Pyridoxine-dependent epilepsy 0.627654623392529 27 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7490 WT1 Wilms tumor 1 umls:C0950122 Frasier Syndrome 0.627625659326415 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 55654 TMEM127 transmembrane protein 127 umls:C0031511 Pheochromocytoma 0.627469180739632 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 7450 VWF von Willebrand factor umls:C1264040 von Willebrand Disease, Type 2 0.627371118822435 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6925 TCF4 transcription factor 4 umls:C1970431 Pitt-Hopkins syndrome 0.627371118822435 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2245 FGD1 FYVE, RhoGEF and PH domain containing 1 umls:C0175701 Aarskog Syndrome 0.627371118822435 27 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C1847501 De Vivo disease 0.627087614252342 27 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2328 FMO3 flavin containing monooxygenase 3 umls:C0342739 Trimethylaminuria 0.627087614252342 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7276 TTR transthyretin umls:C2751492 Amyloidosis, Hereditary, Transthyretin-Related 0.626804109682248 24 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4166 CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 umls:C1636149 Macular dystrophy, corneal type 1 0.626804109682248 25 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10585 POMT1 protein-O-mannosyltransferase 1 umls:C0265221 Walker-Warburg Syndrome 0.626804109682248 24 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0025149 Medulloblastoma 0.626775145616134 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 10456 HAX1 HCLS1 associated protein X-1 umls:C1853118 Neutropenia, Severe Congenital, Autosomal Recessive 3 0.626520605112154 25 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 478 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide umls:C1868681 Dystonia 12 0.626520605112154 23 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C2751824 46, XY Disorders of Sex Development 0.626520605112154 23 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23400 ATP13A2 ATPase type 13A2 umls:C1847640 Parkinson disease 9 0.626520605112154 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7253 TSHR thyroid stimulating hormone receptor umls:C1836706 Hyperthyroidism, Nonautoimmune 0.625953595971967 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C0917796 Optic Atrophy, Hereditary, Leber 0.62576815331907 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 538 ATP7A ATPase, Cu++ transporting, alpha polypeptide umls:C0268353 Occipital horn syndrome 0.625670091401873 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1893 ECM1 extracellular matrix protein 1 umls:C0023795 Lipoid Proteinosis of Urbach and Wiethe 0.625670091401873 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 157680 VPS13B vacuolar protein sorting 13 homolog B (yeast) umls:C0265223 Cohen syndrome 0.625670091401873 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6690 SPINK1 serine peptidase inhibitor, Kazal type 1 umls:C1842402 Tropical Calcific Pancreatitis 0.625435617790378 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 9241 NOG noggin umls:C1861385 Cushing's symphalangism 0.62538658683178 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C1275685 Corneal dystrophy Avellino type 0.62538658683178 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 113235 SLC46A1 solute carrier family 46 (folate transporter), member 1 umls:C0342705 Folate Malabsorption, Hereditary 0.62538658683178 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 116085 SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 umls:C0473219 Renal hypouricemia 0.62538658683178 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9289 GPR56 G protein-coupled receptor 56 umls:C1847352 Polymicrogyria, Bilateral Frontoparietal 0.62538658683178 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4000 LMNA lamin A/C umls:C0432291 Mandibuloacral dysplasia with type A lipodystrophy 0.625103082261686 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5096 PCCB propionyl CoA carboxylase, beta polypeptide umls:C0268579 Propionic Acidemia 0.625103082261686 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 164656 TMPRSS6 transmembrane protease, serine 6 umls:C0085576 Iron-Refractory Iron Deficiency Anemia 0.625103082261686 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6690 SPINK1 serine peptidase inhibitor, Kazal type 1 umls:C0238339 Hereditary pancreatitis 0.624819577691592 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3110 MNX1 motor neuron and pancreas homeobox 1 umls:C1531773 Currarino triad 0.624819577691592 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2778 GNAS GNAS complex locus umls:C0334041 Osseous Heteroplasia, Progressive 0.624819577691592 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 285440 CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 umls:C1859486 Bietti Crystalline Dystrophy 0.624819577691592 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 54840 APTX aprataxin umls:C1859598 Early-onset ataxia with oculomotor apraxia and hypoalbuminemia 0.624819577691592 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3248 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) umls:C0029411 Osteoarthropathy, Primary Hypertrophic 0.624790613625479 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 1075 CTSC cathepsin C umls:C0031106 Aggressive Periodontitis 0.624790613625479 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 730 C7 complement component 7 umls:C1864694 Complement Component 7 Deficiency 0.624634135038695 5 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, UNIPROT 4867 NPHP1 nephronophthisis 1 (juvenile) umls:C1855681 Nephronophthisis, familial juvenile 0.624536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5095 PCCA propionyl CoA carboxylase, alpha polypeptide umls:C0268579 Propionic Acidemia 0.624536073121499 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1991 ELANE elastase, neutrophil expressed umls:C0221023 Cyclic neutropenia 0.624536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3712 IVD isovaleryl-CoA dehydrogenase umls:C0268575 Acidemia, isovaleric 0.624536073121499 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6928 HNF1B HNF1 homeobox B umls:C0431693 Renal cysts and diabetes syndrome 0.624536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3849 KRT2 keratin 2, type II umls:C0432306 Ichthyosis Bullosa of Siemens 0.624536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4361 MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) umls:C1858391 Ataxia Telangiectasia Like Disorder 0.624536073121499 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23405 DICER1 dicer 1, ribonuclease type III umls:C1266144 Pleuropulmonary blastoma 0.624536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6473 SHOX short stature homeobox umls:C0432230 Langer mesomelic dysplasia 0.624252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3892 KRT86 keratin 86, type II umls:C0546966 Monilethrix 0.624252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1678 TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) umls:C0796074 Mohr-Tranebjaerg syndrome 0.624252568551405 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3251 HPRT1 hypoxanthine phosphoribosyltransferase 1 umls:C0268117 Gout, HPRT-Related 0.624252568551405 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 57104 PNPLA2 patatin-like phospholipase domain containing 2 umls:C1853136 Neutral Lipid Storage Disease with Myopathy 0.624252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 54209 TREM2 triggering receptor expressed on myeloid cells 2 umls:C1857316 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 0.624252568551405 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1277 COL1A1 collagen, type I, alpha 1 umls:C0020497 Hyperostosis, Cortical, Congenital 0.624223604485291 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, UNIPROT 1293 COL6A3 collagen, type VI, alpha 3 umls:C1834674 Bethlem myopathy 0.623969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3030 HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit umls:C1969443 Trifunctional Protein Deficiency With Myopathy And Neuropathy 0.623969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2290 FOXG1 forkhead box G1 umls:C3150705 FOXG1 syndrome 0.623969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3766 KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 umls:C2748572 SeSAME syndrome 0.623969063981311 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6833 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 umls:C1833104 Diabetes Mellitus, Permanent Neonatal 0.623969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 140803 TRPM6 transient receptor potential cation channel, subfamily M, member 6 umls:C1865974 Hypomagnesemia 1, Intestinal 0.623969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10166 SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 umls:C0268540 HHH syndrome 0.623969063981311 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 93986 FOXP2 forkhead box P2 umls:C0750927 Developmental verbal dyspraxia 0.623685559411218 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 38 ACAT1 acetyl-CoA acetyltransferase 1 umls:C1536500 Beta ketothiolase deficiency 0.623685559411218 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5873 RAB27A RAB27A, member RAS oncogene family umls:C1868679 Griscelli syndrome type 2 0.623685559411218 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5395 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) umls:C0265325 Turcot syndrome 0.623685559411218 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 50964 SOST sclerostin umls:C0265301 Sclerosteosis 0.623685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10165 SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 umls:C1853942 Neonatal-onset citrullinemia type 2 0.623685559411218 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8838 WISP3 WNT1 inducible signaling pathway protein 3 umls:C0432215 Arthropathy, progressive pseudorheumatoid, of childhood 0.623402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C2020284 Stickler syndrome, type 1 0.623402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2512 FTL ferritin, light polypeptide umls:C1833213 Hyperferritinemia, hereditary, with congenital cataracts 0.623402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 118429 ANTXR2 anthrax toxin receptor 2 umls:C2745948 Hyalinosis, Systemic 0.623402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 157570 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 umls:C0392475 Roberts Syndrome 0.623402054841124 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 79577 CDC73 cell division cycle 73 umls:C1840402 Hyperparathyroidism 1 0.623402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 84295 PHF6 PHD finger protein 6 umls:C0265339 Borjeson-Forssman-Lehmann syndrome 0.623402054841124 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C1864445 Histiocytosis with joint contractures and sensorineural deafness 0.623402054841124 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8626 TP63 tumor protein p63 umls:C1785148 Rapp-Hodgkin syndrome 0.623402054841124 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4000 LMNA lamin A/C umls:C1834653 Limb-girdle muscular dystrophy, type 1B 0.62311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1278 COL1A2 collagen, type I, alpha 2 umls:C0268363 Osteogenesis imperfecta, type 4 0.62311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C1842180 Capillary Malformation-Arteriovenous Malformation 0.62311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C0339278 Corneal dystrophy of Bowman layer, type 1 0.62311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 25953 PNKD paroxysmal nonkinesigenic dyskinesia umls:C1869117 Paroxysmal nonkinesigenic dyskinesia 0.62311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8626 TP63 tumor protein p63 umls:C1863204 Propping Zerres syndrome 0.62311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 29914 UBIAD1 UbiA prenyltransferase domain containing 1 umls:C0271287 Corneal Dystrophy, Crystalline, of Schnyder 0.62311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 51128 SAR1B secretion associated, Ras related GTPase 1B umls:C0795956 Chylomicron retention disease 0.62311855027103 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 275 AMT aminomethyltransferase umls:C0751748 Hyperglycinemia, Nonketotic 0.622884076659535 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 487 ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 umls:C1832918 Brody myopathy 0.622835045700937 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C0265279 Kniest dysplasia 0.622835045700937 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C2677099 Crouzon Syndrome With Acanthosis Nigricans 0.622835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5728 PTEN phosphatase and tensin homolog umls:C1168401 Carcinoma, squamous cell of head and neck 0.622835045700937 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 64221 ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) umls:C1846496 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 0.622835045700937 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4645 MYO5B myosin VB umls:C0341306 Microvillus inclusion disease 0.622835045700937 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8517 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma umls:C1846006 Ectodermal dysplasia, hypohidrotic, with immune deficiency 0.622835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5880 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) umls:C1842398 Neutrophil Immunodeficiency Syndrome 0.622600572089441 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, UNIPROT 8029 CUBN cubilin (intrinsic factor-cobalamin receptor) umls:C1306856 Imerslund-Grasbeck syndrome 0.622551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1292 COL6A2 collagen, type VI, alpha 2 umls:C1834674 Bethlem myopathy 0.622551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2710 GK glycerol kinase umls:C0268418 Hyperglycerolemia 0.622551541130843 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4351 MPI mannose phosphate isomerase umls:C1865145 Congenital disorder of glycosylation type 1B 0.622551541130843 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2617 GARS glycyl-tRNA synthetase umls:C1833308 Neuronopathy, Distal Hereditary Motor, Type V 0.622551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1188 CLCNKB chloride channel, voltage-sensitive Kb umls:C1846343 Bartter syndrome, type 3 0.622551541130843 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 94137 RP1L1 retinitis pigmentosa 1-like 1 umls:C3150833 OCCULT MACULAR DYSTROPHY 0.622551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7273 TTN titin umls:C1863599 Hereditary Myopathy with Early Respiratory Failure 0.622551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9968 MED12 mediator complex subunit 12 umls:C0220769 Opitz-Kaveggia syndrome 0.622551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 26276 VPS33B vacuolar protein sorting 33 homolog B (yeast) umls:C1859722 Arthrogryposis renal dysfunction cholestasis syndrome 0.622551541130843 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8195 MKKS McKusick-Kaufman syndrome umls:C0948368 McKusick Kaufman syndrome 0.622551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1540 CYLD cylindromatosis (turban tumor syndrome) umls:C1275122 Trichoepithelioma multiple familial 0.622551541130843 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0152101 Hypoplastic Left Heart Syndrome 0.622317067519347 1 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, UNIPROT 81839 VANGL1 VANGL planar cell polarity protein 1 umls:C0027794 Neural Tube Defects 0.622317067519347 2 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, UNIPROT 10084 PQBP1 polyglutamine binding protein 1 umls:C0796135 Renpenning syndrome 1 0.622268036560749 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2811 GP1BA glycoprotein Ib (platelet), alpha polypeptide umls:C1280798 Von Willebrand disease, platelet type 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3075 CFH complement factor H umls:C0398777 Complement Factor H Deficiency 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C1842160 Myopathy, Myosin Storage 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3852 KRT5 keratin 5, type II umls:C0432316 Epidermolysis bullosa simplex with mottled pigmentation 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0265964 Vohwinkel syndrome 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7498 XDH xanthine dehydrogenase umls:C0268118 Xanthinuria, Type I 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 54880 BCOR BCL6 corepressor umls:C1846265 Microphthalmia, syndromic 2 0.622268036560749 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 79001 VKORC1 vitamin K epoxide reductase complex, subunit 1 umls:C0750384 Coumarin Resistance 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0265281 Metatropic dwarfism 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 64127 NOD2 nucleotide-binding oligomerization domain containing 2 umls:C1836122 Sarcoidosis, Early-Onset 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 113278 SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 umls:C0796274 Brown-Vialetto-Van Laere syndrome 0.622268036560749 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 30813 VSX1 visual system homeobox 1 umls:C0339284 Corneal Dystrophy, Posterior Polymorphous, 1 0.622268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8312 AXIN1 axin 1 umls:C2239176 Carcinoma, Hepatocellular 0.621984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5972 REN renin umls:C0266313 Allanson Pantzar McLeod syndrome 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5741 PTH parathyroid hormone umls:C1832648 Hypoparathyroidism familial isolated 0.621984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1277 COL1A1 collagen, type I, alpha 1 umls:C0268363 Osteogenesis imperfecta, type 4 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3480 IGF1R insulin-like growth factor 1 receptor umls:C1849157 Insulin-Like Growth Factor I, Resistance To 0.621984531990656 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2737 GLI3 GLI family zinc finger 3 umls:C0220697 Polydactyly, Postaxial 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5184 PEPD peptidase D umls:C0268532 Prolidase Deficiency 0.621984531990656 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6476 SI sucrase-isomaltase (alpha-glucosidase) umls:C1283620 Sucrase-isomaltase deficiency, congenital 0.621984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4763 NF1 neurofibromin 1 umls:C2931482 Neurofibromatosis-Noonan syndrome 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2263 FGFR2 fibroblast growth factor receptor 2 umls:C2936791 antley-bixler syndrome 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2896 GRN granulin umls:C1843792 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 0.621984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6716 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) umls:C0268297 Pseudovaginal Perineoscrotal Hypospadias 0.621984531990656 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1836 SLC26A2 solute carrier family 26 (anion exchanger), member 2 umls:C1850554 Atelosteogenesis type 2 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 477 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide umls:C1865322 Hemiplegic migraine, familial type 2 0.621984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C1855465 Stargardt disease 1 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 950 SCARB2 scavenger receptor class B, member 2 umls:C0751779 EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE 0.621984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1639 DCTN1 dynactin 1 umls:C1868594 Perry Syndrome 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 56975 FAM20C family with sequence similarity 20, member C umls:C1850106 Raine syndrome 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 83959 SLC4A11 solute carrier family 4, sodium borate transporter, member 11 umls:C1857572 Corneal dystrophy and perceptive deafness 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 124583 CANT1 calcium activated nucleotidase 1 umls:C0432242 Desbuquois syndrome 0.621984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 84916 CIRH1A cirrhosis, autosomal recessive 1A (cirhin) umls:C1858051 North American Indian Childhood Cirrhosis 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8074 FGF23 fibroblast growth factor 23 umls:C1876187 Tumoral Calcinosis, Hyperphosphatemic, Familial 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 127534 GJB4 gap junction protein, beta 4, 30.3kDa umls:C0265961 Erythrokeratodermia Variabilis 0.621984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7439 BEST1 bestrophin 1 umls:C1860406 Vitreoretinochoroidopathy 0.621701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10568 SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2 umls:C0155912 Pulmonary Alveolar Microlithiasis 0.621701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2688 GH1 growth hormone 1 umls:C0271567 Isolated Growth Hormone Deficiency, Type II 0.621701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4621 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic umls:C0265224 Freeman-Sheldon syndrome 0.621701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2316 FLNA filamin A, alpha umls:C0265293 Frontometaphyseal dysplasia 0.621701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 158 ADSL adenylosuccinate lyase umls:C0268126 Adenylosuccinate lyase deficiency 0.621701027420562 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6524 SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 umls:C0017980 Glycosuria, Renal 0.621701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0206711 Pilomatrixoma 0.621701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3998 LMAN1 lectin, mannose-binding, 1 umls:C1856883 Familial Multiple Coagulation Factor Deficiency I 0.621701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6575 SLC20A2 solute carrier family 20 (phosphate transporter), member 2 umls:C0393590 Idiopathic basal ganglia calcification 1 0.621701027420562 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 54332 GDAP1 ganglioside induced differentiation associated protein 1 umls:C1859198 Charcot-Marie-Tooth disease, Type 4A 0.621701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 54332 GDAP1 ganglioside induced differentiation associated protein 1 umls:C1842983 Charcot-Marie-Tooth disease, Type 2K 0.621701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 56652 C10orf2 chromosome 10 open reading frame 2 umls:C1849096 Infantile onset spinocerebellar ataxia 0.621701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 658 BMPR1B bone morphogenetic protein receptor, type IB umls:C1832702 Brachydactyly type A2 0.621417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10060 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 umls:C0795905 Cantu syndrome 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9927 MFN2 mitofusin 2 umls:C0393807 Hereditary Motor And Sensory Neuropathy VI 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 81031 SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 umls:C1859726 Arterial Tortuosity Syndrome 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2746 GLUD1 glutamate dehydrogenase 1 umls:C1847555 Hyperinsulinemic hypoglycemia, familial, 6 0.621417522850468 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2517 FUCA1 fucosidase, alpha-L- 1, tissue umls:C0016788 Fucosidosis 0.621417522850468 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4613 MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog umls:C0796068 Oculodigitoesophagoduodenal syndrome 0.621417522850468 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5860 QDPR quinoid dihydropteridine reductase umls:C0268465 dhpr deficiency 0.621417522850468 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5091 PC pyruvate carboxylase umls:C0034341 Pyruvate Carboxylase Deficiency Disease 0.621417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4668 NAGA N-acetylgalactosaminidase, alpha- umls:C1836544 Schindler Disease, Type I 0.621417522850468 7 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, UNIPROT 7137 TNNI3 troponin I type 3 (cardiac) umls:C1861861 Cardiomyopathy, Familial Restrictive, 1 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2643 GCH1 GTP cyclohydrolase 1 umls:C0268467 Hyperphenylalaninemia, BH4-Deficient, B 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1075 CTSC cathepsin C umls:C1855627 Keratosis palmoplantaris with periodontopathia and onychogryposis 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 58 ACTA1 actin, alpha 1, skeletal muscle umls:C0546264 Congenital Fiber-Type Disproportion 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1718 DHCR24 24-dehydrocholesterol reductase umls:C1865596 Desmosterolosis 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 50814 NSDHL NAD(P) dependent steroid dehydrogenase-like umls:C0265267 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 0.621417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 203859 ANO5 anoctamin 5 umls:C1833736 Osteogenesis imperfecta, Levin type 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 11330 CTRC chymotrypsin C (caldecrin) umls:C0238339 Hereditary pancreatitis 0.621417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 64220 STRA6 stimulated by retinoic acid 6 umls:C1832661 Anophthalmia with pulmonary hypoplasia 0.621417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 80704 SLC19A3 solute carrier family 19 (thiamine transporter), member 3 umls:C1843807 Basal ganglia disease, biotin-responsive 0.621417522850468 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0265280 Spondylometaphyseal dysplasia, Kozlowski type 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 56172 ANKH ANKH inorganic pyrophosphate transport regulator umls:C0856830 Chondrocalcinosis 2 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase umls:C0342853 Sialic Acid Storage Disease 0.621417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 274 BIN1 bridging integrator 1 umls:C0410204 Myopathy, Centronuclear, Autosomal Recessive 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7476 WNT7A wingless-type MMTV integration site family, member 7A umls:C1848651 Al Awadi syndrome 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 788 SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 umls:C0342791 Carnitine-Acylcarnitine Translocase Deficiency 0.621134018280375 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2317 FLNB filamin B, beta umls:C0265283 Atelosteogenesis, type 1 0.621134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5230 PGK1 phosphoglycerate kinase 1 umls:C1970848 Phosphoglycerate Kinase 1 Deficiency 0.621134018280375 12 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2244 FGB fibrinogen beta chain umls:C0019250 Afibrinogenemia congenital 0.621134018280375 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7169 TPM2 tropomyosin 2 (beta) umls:C1834523 Distal arthrogryposis type 2B 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4621 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic umls:C1834523 Distal arthrogryposis type 2B 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3850 KRT3 keratin 3, type II umls:C0339277 Corneal Dystrophy, Juvenile Epithelial of Meesmann 0.621134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 210 ALAD aminolevulinate dehydratase umls:C0268328 Porphyria, Acute Hepatic 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 554 AVPR2 arginine vasopressin receptor 2 umls:C1845202 Nephrogenic Syndrome of Inappropriate Antidiuresis 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5831 PYCR1 pyrroline-5-carboxylate reductase 1 umls:C2751987 Cutis Laxa, Autosomal Recessive, Type IIB 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3977 LIFR leukemia inhibitory factor receptor alpha umls:C0796176 Stuve-Wiedemann syndrome 0.621134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7136 TNNI2 troponin I type 2 (skeletal, fast) umls:C1834523 Distal arthrogryposis type 2B 0.621134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 204 AK2 adenylate kinase 2 umls:C0272167 Reticular dysgenesis 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1294 COL7A1 collagen, type VII, alpha 1 umls:C0432321 Epidermolysis bullosa, pretibial 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2074 ERCC6 excision repair cross-complementation group 6 umls:C0220722 Cerebrooculofacioskeletal Syndrome 1 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4089 SMAD4 SMAD family member 4 umls:C0796081 Growth mental deficiency syndrome of Myhre 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4089 SMAD4 SMAD family member 4 umls:C1832942 Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 27031 NPHP3 nephronophthisis 3 (adolescent) umls:C2673883 Renal-Hepatic-Pancreatic Dysplasia 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 129563 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 umls:C0796113 Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 113189 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 umls:C1866294 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 0.621134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9663 LPIN2 lipin 2 umls:C1864997 Majeed syndrome 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10195 ALG3 ALG3, alpha-1,3- mannosyltransferase umls:C1832736 Congenital disorder of glycosylation type 1D 0.621134018280375 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10436 EMG1 EMG1 N1-specific pseudouridine methyltransferase umls:C1859405 Bowen-Conradi syndrome 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 80208 SPG11 spastic paraplegia 11 (autosomal recessive) umls:C1858479 Spastic paraplegia 11, autosomal recessive 0.621134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 83990 BRIP1 BRCA1 interacting protein C-terminal helicase 1 umls:C1836860 Fanconi Anemia, Complementation Group J 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 81693 AMN amnion associated transmembrane protein umls:C1306856 Imerslund-Grasbeck syndrome 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0432227 Brachyolmia Type 3 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 25978 CHMP2B charged multivesicular body protein 2B umls:C1833296 Frontotemporal Dementia, Chromosome 3-Linked 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase umls:C1833373 Inclusion body myopathy autosomal recessive 0.621134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 778 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit umls:C0268505 Aland Island Eye Disease 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 22 ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 umls:C1845028 Anemia, sideroblastic spinocerebellar ataxia 0.620850513710281 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C0432273 Worth syndrome 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2317 FLNB filamin B, beta umls:C0432201 Boomerang dysplasia 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 257 ALX3 ALX homeobox 3 umls:C1876203 Frontonasal dysplasia 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2161 F12 coagulation factor XII (Hageman factor) umls:C1857728 Hereditary Angioedema Type III 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2335 FN1 fibronectin 1 umls:C1866075 Glomerulopathy with fibronectin deposits 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3818 KLKB1 kallikrein B, plasma (Fletcher factor) 1 umls:C0272339 Prekallikrein Deficiency 0.620850513710281 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5582 PRKCG protein kinase C, gamma umls:C1854369 Spinocerebellar ataxia 14 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1146 CHRNG cholinergic receptor, nicotinic, gamma (muscle) umls:C0265261 Multiple pterygium syndrome 0.620850513710281 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2248 FGF3 fibroblast growth factor 3 umls:C1853144 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6497 SKI SKI proto-oncogene umls:C1321551 Shprintzen Golberg craniosynostosis 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4626 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal umls:C0265226 Hecht syndrome 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5224 PGAM2 phosphoglycerate mutase 2 (muscle) umls:C0268149 Dimauro disease 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4763 NF1 neurofibromin 1 umls:C1834235 Neurofibromatosis, Familial Spinal 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 762 CA4 carbonic anhydrase IV umls:C1833245 Retinitis Pigmentosa 17 0.620850513710281 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2492 FSHR follicle stimulating hormone receptor umls:C0949595 Gonadal Dysgenesis, 46,XX 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3236 HOXD10 homeobox D10 umls:C0240912 Vertical talus, congenital 0.620850513710281 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0266004 Knuckle pads, leuconychia and sensorineural deafness 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C1858673 Generalized Epilepsy With Febrile Seizures Plus, Type 2 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C0546476 Keratoacanthoma familial 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3034 HAL histidine ammonia-lyase umls:C0220992 Histidinemia 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7080 NKX2-1 NK2 homeobox 1 umls:C1970269 Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1836 SLC26A2 solute carrier family 26 (anion exchanger), member 2 umls:C1847593 Epiphyseal dysplasia, multiple, 4 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7879 RAB7A RAB7A, member RAS oncogene family umls:C1833219 Charcot-Marie-Tooth disease, Type 2B 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 415 ARSE arylsulfatase E (chondrodysplasia punctata 1) umls:C1844853 Chondrodysplasia punctata, brachytelephalangic 0.620850513710281 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C2751067 Parkinsonism-Dystonia, Infantile 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4952 OCRL oculocerebrorenal syndrome of Lowe umls:C1845167 Dent Disease 2 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1294 COL7A1 collagen, type VII, alpha 1 umls:C1851573 Transient bullous dermolysis of the newborn 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2692 GHRHR growth hormone releasing hormone receptor umls:C2748571 Isolated Growth Hormone Deficiency, Type IB 0.620850513710281 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 84823 LMNB2 lamin B2 umls:C0220989 Lipodystrophy, Partial, Acquired 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3872 KRT17 keratin 17, type I umls:C0259771 Steatocystoma Multiplex 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9241 NOG noggin umls:C1861305 NOG-Related-Symphalangism Spectrum Disorder 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4998 ORC1 origin recognition complex, subunit 1 umls:C1868684 Meier-Gorlin syndrome 0.620850513710281 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 549 AUH AU RNA binding protein/enoyl-CoA hydratase umls:C0342727 3-Methylglutaconic Aciduria, Type I 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3748 KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3 umls:C1854488 Spinocerebellar ataxia 13 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6469 SHH sonic hedgehog umls:C1840235 Single upper central incisor 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C1562894 Corneal dystrophy, Thiel-Behnke type 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2733 GLE1 GLE1 RNA export mediator umls:C1854664 Lethal congenital contracture syndrome 1 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 91147 TMEM67 transmembrane protein 67 umls:C1857662 COACH syndrome 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 392255 GDF6 growth differentiation factor 6 umls:C1861689 Klippel Feil syndrome dominant type 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 389434 IYD iodotyrosine deiodinase umls:C0342195 Thyroid Dyshormonogenesis 4 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10908 PNPLA6 patatin-like phospholipase domain containing 6 umls:C2677586 Spastic Paraplegia 39, Autosomal Recessive 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 201163 FLCN folliculin umls:C1868193 Pneumothorax, Primary Spontaneous 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1663 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 umls:C3150658 WARSAW BREAKAGE SYNDROME 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5308 PITX2 paired-like homeodomain 2 umls:C1842031 Iridogoniodysgenesis, dominant type 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 25782 RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) umls:C0796037 Martsolf syndrome 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 54714 CNGB3 cyclic nucleotide gated channel beta 3 umls:C1849792 Achromatopsia 3 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 11285 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 umls:C1869122 Ehlers-Danlos syndrome, progeroid form 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2055 CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) umls:C1864923 Ceroid lipofuscinosis, neuronal 8 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1757 SARDH sarcosine dehydrogenase umls:C0268563 Sarcosinemia 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 617 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like umls:C0266006 Bjornstad syndrome 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 200576 PIKFYVE phosphoinositide kinase, FYVE finger containing umls:C1562113 Corneal Dystrophy, Fleck 0.620850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 25793 FBXO7 F-box protein 7 umls:C1850100 Pallidopyramidal syndrome 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 80324 PUS1 pseudouridylate synthase 1 umls:C1838103 Myopathy with lactic acidosis and sideroblastic anemia 0.620850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9333 TGM5 transglutaminase 5 umls:C1853354 Peeling skin syndrome, acral type 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8398 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) umls:C2751842 Dystonia-Parkinsonism, Adult-Onset 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8813 DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit umls:C1837396 Congenital disorder of glycosylation type 1E 0.620567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9526 MPDU1 mannose-P-dolichol utilization defect 1 umls:C1836669 Congenital disorder of glycosylation type 1F 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8787 RGS9 regulator of G-protein signaling 9 umls:C1842073 Prolonged Electroretinal Response Suppression 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9401 RECQL4 RecQ protein-like 4 umls:C0265308 Craniosynostosis radial aplasia syndrome 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0265318 Nevus, Sebaceous of Jadassohn 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1282 COL4A1 collagen, type IV, alpha 1 umls:C2673195 Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7169 TPM2 tropomyosin 2 (beta) umls:C0220662 Arthrogryposis multiplex congenita, distal type 1 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2203 FBP1 fructose-1,6-bisphosphatase 1 umls:C0016756 Fructose-1,6-Diphosphatase Deficiency 0.620567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C1842534 Dystonia 18 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1302 COL11A2 collagen, type XI, alpha 2 umls:C1848488 Pierre Robin syndrome with fetal chondrodysplasia 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 966 CD59 CD59 molecule, complement regulatory protein umls:C2676767 CD59 Deficiency 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1832 DSP desmoplakin umls:C1843292 Skin Fragility-Woolly Hair Syndrome 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C1861366 Syndactyly, type 3 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C1865643 Cholestasis, progressive familial intrahepatic 3 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1001 CDH3 cadherin 3, type 1, P-cadherin (placental) umls:C1857041 Ectodermal dysplasia, ectrodactyly, and macular dystrophy 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5077 PAX3 paired box 3 umls:C1852510 Craniofacial deafness hand syndrome 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5080 PAX6 paired box 6 umls:C0009363 Coloboma 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4719 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) umls:C1838979 Mitochondrial complex I deficiency 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C1835672 Keratoderma palmoplantar deafness 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6389 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) umls:C0023264 Leigh Disease 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4358 MPV17 MpV17 mitochondrial inner membrane protein umls:C1850406 Navajo neurohepatopathy 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10128 LRPPRC leucine-rich pentatricopeptide repeat containing umls:C1857355 Leigh syndrome , French Canadian type 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7140 TNNT3 troponin T type 3 (skeletal, fast) umls:C1834523 Distal arthrogryposis type 2B 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4723 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa umls:C1838979 Mitochondrial complex I deficiency 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5428 POLG polymerase (DNA directed), gamma umls:C1850303 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5428 POLG polymerase (DNA directed), gamma umls:C1843851 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9496 TBX4 T-box 4 umls:C1840061 Ischiopatellar dysplasia 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3000 GUCY2D guanylate cyclase 2D, membrane (retina-specific) umls:C2931258 Amaurosis congenita of Leber, type 1 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3778 KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 umls:C1836173 Generalized Epilepsy and Paroxysmal Dyskinesia 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C3150943 Long Qt Syndrome 2 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9241 NOG noggin umls:C0342282 Symphalangism-brachydactyly syndrome 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6786 STIM1 stromal interaction molecule 1 umls:C2748557 Immune dysfunction with T-cell inactivation due to calcium entry defect 2 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7841 MOGS mannosyl-oligosaccharide glucosidase umls:C1853736 Congenital Disorder Of Glycosylation, Type IIB 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3549 IHH indian hedgehog umls:C1843096 Acrocapitofemoral Dysplasia 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3708 ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 umls:C1847725 Spinocerebellar Ataxia 15 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C1641846 Groenouw type I corneal dystrophy 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C1837974 Corneal Dystrophy, Lattice Type IIIA 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 100506658 OCLN occludin umls:C3489725 BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 285489 DOK7 docking protein 7 umls:C1850792 Congenital myasthenic syndrome ib 0.620567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23096 IQSEC2 IQ motif and Sec7 domain 2 umls:C2931498 Mental Retardation, X-Linked 1 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 55157 DARS2 aspartyl-tRNA synthetase 2, mitochondrial umls:C1970180 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 123606 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 umls:C1838192 Spastic paraplegia 6, autosomal dominant 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 26154 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 umls:C1832550 Lamellar ichthyosis, type 2 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 147495 APCDD1 adenomatosis polyposis coli down-regulated 1 umls:C1854310 Hypotrichosis simplex 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 51062 ATL1 atlastin GTPase 1 umls:C2931355 Spastic paraplegia 3, autosomal dominant 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9968 MED12 mediator complex subunit 12 umls:C0796022 Lujan Fryns syndrome 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 326625 MMAB methylmalonic aciduria (cobalamin deficiency) cblB type umls:C1855102 Methylmalonic aciduria cblB type 0.620567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 56922 MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) umls:C0268600 3-methylcrotonyl CoA carboxylase 1 deficiency 0.620567009140187 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 79048 SECISBP2 SECIS binding protein 2 umls:C1864761 Thyroid Hormone Metabolism, Abnormal 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4615 MYD88 myeloid differentiation primary response 88 umls:C2677092 MYD88 Deficiency 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 51305 KCNK9 potassium channel, two pore domain subfamily K, member 9 umls:C2676770 Birk-Barel Mental Retardation Dysmorphism Syndrome 0.620567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 55650 PIGV phosphatidylinositol glycan anchor biosynthesis, class V umls:C1855923 Hyperphosphatasia with Mental Retardation 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 55145 THAP1 THAP domain containing, apoptosis associated protein 1 umls:C1414216 Dystonia 6, torsion 0.620567009140187 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8292 COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase umls:C1864233 Endplate Acetylcholinesterase Deficiency 0.620567009140187 6 Biomarker, GeneticVariation, Therapeutic BeFree, CLINVAR, CTD_human, UNIPROT 28982 FLVCR1 feline leukemia virus subgroup C cellular receptor 1 umls:C1836916 Posterior column ataxia with retinitis pigmentosa 0.620567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23347 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 umls:C1834671 Facioscapulohumeral Muscular Dystrophy 1B 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 401 PHOX2A paired-like homeobox 2a umls:C1865915 Fibrosis Of Extraocular Muscles, Congenital, 2 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23229 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 umls:C1845102 Hyperekplexia and Epilepsy 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8398 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) umls:C1857747 NBIA2B 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1497 CTNS cystinosin, lysosomal cystine transporter umls:C0268626 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4720 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) umls:C1838979 Mitochondrial complex I deficiency 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10841 FTCD formimidoyltransferase cyclodeaminase umls:C0268609 Glutamate formiminotransferase deficiency 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5972 REN renin umls:C2751310 Hyperuricemic Nephropathy, Familial Juvenile 2 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2688 GH1 growth hormone 1 umls:C1849779 Kowarski syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1277 COL1A1 collagen, type I, alpha 1 umls:C0268335 Ehlers-Danlos syndrome type 1 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 335 APOA1 apolipoprotein A-I umls:C0268389 Amyloidosis, familial visceral 0.620283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3848 KRT1 keratin 1, type II umls:C1833030 Palmoplantar Keratoderma, Nonepidermolytic 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C2677109 Leukodystrophy, Hypomyelinating, 4 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1959 EGR2 early growth response 2 umls:C1843247 Charcot-Marie-Tooth disease, Type 1D 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0432283 Osteoglophonic dwarfism 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0432122 Trigonocephaly, Nonsyndromic 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2752 GLUL glutamate-ammonia ligase umls:C1864910 Glutamine deficiency, congenital 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3753 KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 umls:C1867904 Long Qt Syndrome 5 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1585 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 umls:C0268293 18-Hydroxylase deficiency 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3614 IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 umls:C1867299 Retinitis Pigmentosa 10 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2316 FLNA filamin A, alpha umls:C0262436 Cardiac valvular dysplasia, X-linked 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4254 KITLG KIT ligand umls:C1840392 Hyperpigmentation, Familial Progressive 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4907 NT5E 5'-nucleotidase, ecto (CD73) umls:C1859372 Calcification of Joints and Arteries 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7317 UBA1 ubiquitin-like modifier activating enzyme 1 umls:C1844934 Arthrogryposis multiplex congenita, distal, X-linked 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 867 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase umls:C3150803 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5479 PPIB peptidylprolyl isomerase B (cyclophilin B) umls:C1850169 Osteogenesis Imperfecta, Type IX 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5961 PRPH2 peripherin 2 (retinal degeneration, slow) umls:C2751290 Choroidal Dystrophy, Central Areolar 2 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4359 MPZ myelin protein zero umls:C1843153 Charcot-Marie-Tooth disease, Type 2J 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2694 GIF gastric intrinsic factor (vitamin B synthesis) umls:C1394891 Intrinsic Factor Deficiency 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1103 CHAT choline O-acetyltransferase umls:C0393929 Congenital myasthenic syndrome with episodic apnea 0.620283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2798 GNRHR gonadotropin-releasing hormone receptor umls:C0271582 Fertile eunuch syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6389 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) umls:C1855008 Mitochondrial Complex II Deficiency 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3209 HOXA13 homeobox A13 umls:C1867801 Preaxial deficiency, postaxial polydactyly and hypospadias 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3239 HOXD13 homeobox D13 umls:C1861348 Syndactyly, type v 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2200 FBN1 fibrillin 1 umls:C1861456 Stiff Skin Syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3293 HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 umls:C0268296 17-Hydroxysteroid Dehydrogenase Deficiency 0.620283504570094 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2677 GGCX gamma-glutamyl carboxylase umls:C1848534 Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 10225 CD96 CD96 molecule umls:C0796095 Opitz trigonocephaly syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6507 SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 umls:C2675211 Episodic Ataxia, Type 6 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2937 GSS glutathione synthetase umls:C0398746 Glutathione synthetase deficiency 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9791 PTDSS1 phosphatidylserine synthase 1 umls:C0432269 Lenz Majewski hyperostotic dwarfism 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2776 GNAQ guanine nucleotide binding protein (G protein), q polypeptide umls:C0038505 Sturge-Weber Syndrome 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2628 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) umls:C2675179 Arginine:Glycine Amidinotransferase Deficiency 0.620283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3141 HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) umls:C0268581 Holocarboxylase Synthetase Deficiency 0.620283504570094 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6595 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 umls:C1303073 Nicolaides Baraitser syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5396 PRRX1 paired related homeobox 1 umls:C1876185 Dysgnathia complex 0.620283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2671 GFER growth factor, augmenter of liver regeneration umls:C2751320 Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 859 CAV3 caveolin 3 umls:C2678485 Long Qt Syndrome 9 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1 umls:C0796028 Arts syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1 umls:C1839566 Optic atrophy polyneuropathy deafness 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 567 B2M beta-2-microglobulin umls:C1855796 Hypoproteinemia, Hypercatabolic 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C1865018 Short QT Syndrome 3 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3889 KRT83 keratin 83, type II umls:C0546966 Monilethrix 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23418 CRB1 crumbs family member 1, photoreceptor morphogenesis associated umls:C1868310 Pigmented Paravenous Chorioretinal Atrophy 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 1294 COL7A1 collagen, type VII, alpha 1 umls:C0432322 Epidermolysis bullosa dystrophica, Pasini type 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 7010 TEK TEK tyrosine kinase, endothelial umls:C1838437 Venous Malformations, Multiple Cutaneous and Mucosal 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5745 PTH1R parathyroid hormone 1 receptor umls:C1859148 Chondrodysplasia, blomstrand type 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6555 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 umls:C2750087 Bile Acid Malabsorption, Primary 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9241 NOG noggin umls:C1969652 BRACHYDACTYLY, TYPE B2 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2301 FOXE3 forkhead box E3 umls:C1862839 Anterior segment mesenchymal dysgenesis 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 8450 CUL4B cullin 4B umls:C1845861 Mental Retardation, X-Linked, With Brachydactyly And Macroglossia 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 5727 PTCH1 patched 1 umls:C1835820 Holoprosencephaly 7 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 570 BAAT bile acid CoA:amino acid N-acyltransferase umls:C1843139 Hypercholanemia, Familial 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1837845 Sick Sinus Syndrome 1, Autosomal Recessive 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3708 ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 umls:C1861732 Spinocerebellar Ataxia 29 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3930 LBR lamin B receptor umls:C0748397 Reynold's syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 6495 SIX1 SIX homeobox 1 umls:C1842124 Branchiootic Syndrome 3 0.620283504570094 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4921 DDR2 discoidin domain receptor tyrosine kinase 2 umls:C1849011 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 153201 SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2 umls:C0268654 Iminoglycinuria 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2733 GLE1 GLE1 RNA export mediator umls:C2678471 Lethal Arthrogryposis With Anterior Horn Cell Disease 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 158326 FREM1 FRAS1 related extracellular matrix 1 umls:C2750433 Bifid Nose With Or Without Anorectal And Renal Anomalies 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23322 RPGRIP1L RPGRIP1-like umls:C1857662 COACH syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 283989 TSEN54 TSEN54 tRNA splicing endonuclease subunit umls:C1856974 Young McKeever Squier syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 283989 TSEN54 TSEN54 tRNA splicing endonuclease subunit umls:C1848526 Pontocerebellar Hypoplasia Type 2A 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 22999 RIMS1 regulating synaptic membrane exocytosis 1 umls:C1863634 Cone-Rod Dystrophy 7 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 729238 SFTPA2 surfactant protein A2 umls:C1800706 Idiopathic Pulmonary Fibrosis 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 80224 NUBPL nucleotide binding protein-like umls:C1838979 Mitochondrial complex I deficiency 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 169522 KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 umls:C1835897 Retinal Cone Dystrophy 3B 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9640 ZNF592 zinc finger protein 592 umls:C1847114 Spinocerebellar ataxia, autosomal recessive 5 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 843 CASP10 caspase 10, apoptosis-related cysteine peptidase umls:C1858968 Autoimmune Lymphoproliferative Syndrome, Type IIA 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2072 ERCC4 excision repair cross-complementation group 4 umls:C1970416 XFE Progeroid Syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 2259 FGF14 fibroblast growth factor 14 umls:C1836383 Spinocerebellar ataxia 27 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 91869 RFT1 RFT1 homolog (S. cerevisiae) umls:C2677590 Congenital Disorder Of Glycosylation, Type In 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 84930 MASTL microtubule associated serine/threonine kinase-like umls:C1861185 Thrombocytopenia chromosome breakage 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 131669 UROC1 urocanate hydratase 1 umls:C0268514 Urocanase deficiency 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 11284 PNKP polynucleotide kinase 3'-phosphatase umls:C3150667 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3028 HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 umls:C1845517 Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency 0.620283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 26277 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 umls:C1327916 Revesz Debuse syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 92579 G6PC3 glucose 6 phosphatase, catalytic, 3 umls:C2675526 Neutropenia, Severe Congenital, Autosomal Recessive 4 0.620283504570094 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 83394 PITPNM3 PITPNM family member 3 umls:C1832976 Cone-Rod Dystrophy 5 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 79840 NHEJ1 nonhomologous end-joining factor 1 umls:C1969799 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 0.620283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 57724 EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) umls:C1855772 Absent corpus callosum cataract immunodeficiency 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 54714 CNGB3 cyclic nucleotide gated channel beta 3 umls:C1855465 Stargardt disease 1 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 346171 ZFP57 ZFP57 zinc finger protein umls:C1832386 Diabetes Mellitus, Transient Neonatal, 1 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 55131 RBM28 RNA binding motif protein 28 umls:C2677535 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 51259 TMEM216 transmembrane protein 216 umls:C1842577 Joubert syndrome 2 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 51196 PLCE1 phospholipase C, epsilon 1 umls:C1853124 NEPHROTIC SYNDROME, TYPE 3 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 57545 CC2D2A coiled-coil and C2 domain containing 2A umls:C1857662 COACH syndrome 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 51733 UPB1 ureidopropionase, beta umls:C1291512 Beta-Ureidopropionase Deficiency 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9414 TJP2 tight junction protein 2 umls:C1843139 Hypercholanemia, Familial 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 4595 MUTYH mutY homolog umls:C1837991 Colorectal Adenomatous Polyposis, Autosomal Recessive 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 84572 GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit umls:C1854896 Mucolipidosis III Gamma 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 26353 HSPB8 heat shock 22kDa protein 8 umls:C1837552 Charcot-Marie-Tooth disease, Type 2I 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 3621 ING1 inhibitor of growth family, member 1 umls:C1168401 Carcinoma, squamous cell of head and neck 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 27034 ACAD8 acyl-CoA dehydrogenase family, member 8 umls:C1969809 Isobutyryl-CoA dehydrogenase deficiency 0.620283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23092 ARHGAP26 Rho GTPase activating protein 26 umls:C0349639 Leukemia, Myelomonocytic, Juvenile 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 55640 FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 umls:C1856972 Encephaloclastic Proliferative Vasculopathy 0.620283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 23133 PHF8 PHD finger protein 8 umls:C1846055 Siderius X-linked mental retardation syndrome 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 22845 DOLK dolichol kinase umls:C1835849 Congenital Disorder Of Glycosylation, Type Im 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 9479 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 umls:C0011860 Diabetes Mellitus, Type 2 0.620283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 25974 MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria umls:C1848561 Methylmalonic acidemia with homocystinuria 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 50674 NEUROG3 neurogenin 3 umls:C1835888 Diarrhea 4, Malabsorptive, Congenital 0.620283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, UNIPROT 644096 SDHAF1 succinate dehydrogenase complex assembly factor 1 umls:C1855008 Mitochondrial Complex II Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 388939 C2orf71 chromosome 2 open reading frame 71 umls:C3150691 RETINITIS PIGMENTOSA 54 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 389207 GRXCR1 glutaredoxin, cysteine rich 1 umls:C1414017 DEAFNESS, AUTOSOMAL RECESSIVE 25 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 83715 ESPN espin umls:C1837007 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 100134444 KCNJ18 potassium channel, inwardly rectifying subfamily J, member 18 umls:C2750473 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 390594 KBTBD13 kelch repeat and BTB (POZ) domain containing 13 umls:C1836472 Nemaline myopathy 6 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10747 MASP2 mannan-binding lectin serine peptidase 2 umls:C3151085 MASP2 Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7287 TULP1 tubby like protein 1 umls:C3151206 LEBER CONGENITAL AMAUROSIS 15 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 785 CACNB4 calcium channel, voltage-dependent, beta 4 subunit umls:C1866039 Episodic Ataxia, Type 5 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9197 SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 umls:C2675528 Spastic Paraplegia 42, Autosomal Dominant 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5296 PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) umls:C1863924 Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5352 PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 umls:C1836602 Bruck syndrome 2 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8635 RNASET2 ribonuclease T2 umls:C2751843 Leukoencephalopathy, Cystic, Without Megalencephaly 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7480 WNT10B wingless-type MMTV integration site family, member 10B umls:C2749665 Split-Hand/Foot Malformation 6 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9368 SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 umls:C2676782 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8600 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 umls:C1850126 Osteopetrosis, mild autosomal recessive form 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8542 APOL1 apolipoprotein L, 1 umls:C2675525 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 23495 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B umls:C1836032 Immunoglobulin a deficiency 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8462 KLF11 Kruppel-like factor 11 umls:C1864839 Maturity-Onset Diabetes of the Young, Type 7 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C2677903 Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9639 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 umls:C1842357 Slowed Nerve Conduction Velocity, Autosomal Dominant 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 80184 CEP290 centrosomal protein 290kDa umls:C1857779 Senior-Loken Syndrome 6 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9533 POLR1C polymerase (RNA) I polypeptide C, 30kDa umls:C1855433 Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4694 NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa umls:C1838979 Mitochondrial complex I deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8557 TCAP titin-cap umls:C1843791 Cardiomyopathy, Dilated, 1N 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2916 GRM6 glutamate receptor, metabotropic 6 umls:C1850362 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4210 MEFV Mediterranean fever umls:C1851347 Familial Mediterranean Fever, Autosomal Dominant 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 26227 PHGDH phosphoglycerate dehydrogenase umls:C1866174 Phosphoglycerate Dehydrogenase Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5078 PAX4 paired box 4 umls:C2677132 Maturity-Onset Diabetes Of The Young, Type 9 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3199 HOXA2 homeobox A2 umls:C2676772 Microtia, Hearing Impairment, And Cleft Palate 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8842 PROM1 prominin 1 umls:C0339512 Macular Dystrophy, Retinal, 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5889 RAD51C RAD51 paralog C umls:C3150653 FANCONI ANEMIA, COMPLEMENTATION GROUP O 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5889 RAD51C RAD51 paralog C umls:C3150659 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3785 KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 umls:C3150986 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 771 CA12 carbonic anhydrase XII umls:C1840437 HYPERCHLORHIDROSIS, ISOLATED 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9997 SCO2 SCO2 cytochrome c oxidase assembly protein umls:C1858424 Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2542 SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 umls:C0342749 Glycogen Storage Disease IC 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7092 TLL1 tolloid-like 1 umls:C2751315 Atrial Septal Defect 6 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 23396 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma umls:C1969655 Lethal Congenital Contractural Syndrome 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 135935 NOBOX NOBOX oogenesis homeobox umls:C1969060 Premature Ovarian Failure 5 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2182 ACSL4 acyl-CoA synthetase long-chain family member 4 umls:C1845672 Mental Retardation, X-Linked 63 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8985 PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 umls:C2676285 Bone Fragility with Contractures, Arterial Rupture, and Deafness 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 27286 SRPX2 sushi-repeat containing protein, X-linked 2 umls:C1845070 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10060 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 umls:C1837839 Cardiomyopathy, Dilated, 1o 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2218 FKTN fukutin umls:C1969040 Muscular Dystrophy, Limb-Girdle, Type 2M 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2218 FKTN fukutin umls:C1969024 Cardiomyopathy, Dilated, 1x 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2218 FKTN fukutin umls:C2751052 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9681 DEPDC5 DEP domain containing 5 umls:C1858477 Epilepsy, Partial, with Variable Foci 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 261734 NPHP4 nephronophthisis 4 umls:C1847013 Nephronophthisis 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 261734 NPHP4 nephronophthisis 4 umls:C1846979 Senior-Loken syndrome 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C1843330 Osteopetrosis autosomal dominant type 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2317 FLNB filamin B, beta umls:C1862414 ATELOSTEOGENESIS, TYPE III 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4040 LRP6 low density lipoprotein receptor-related protein 6 umls:C1970440 Coronary Artery Disease, Autosomal Dominant 2 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 23020 SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) umls:C1835895 Retinitis Pigmentosa 33 0.62 5 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6102 RP2 retinitis pigmentosa 2 (X-linked recessive) umls:C2681923 Retinitis Pigmentosa 2 0.62 6 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C2675236 Deafness, Autosomal Dominant 2B 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8604 SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 umls:C2751855 Hypomyelination, Global Cerebral 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10535 RNASEH2A ribonuclease H2, subunit A umls:C1835912 Aicardi-Goutieres Syndrome 4 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10518 CIB2 calcium and integrin binding family member 2 umls:C3553944 USHER SYNDROME, TYPE IJ 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10269 ZMPSTE24 zinc metallopeptidase STE24 umls:C1837756 Mandibuloacral dysplasia with type B lipodystrophy 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5063 PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 umls:C0796237 Mental Retardation, X-Linked 30 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7466 WFS1 Wolfram syndrome 1 (wolframin) umls:C1833021 Deafness, Autosomal Dominant 6 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57449 PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 umls:C1970211 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10804 GJB6 gap junction protein, beta 6, 30kDa umls:C2675237 Deafness, Autosomal Dominant 3B 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4990 SIX6 SIX homeobox 6 umls:C1859311 Microphthalmia, Isolated, with Cataract 2 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2103 ESRRB estrogen-related receptor beta umls:C1837857 Deafness, Autosomal Recessive 35 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9531 BAG3 BCL2-associated athanogene 3 umls:C2751831 Myopathy, Myofibrillar, Bag3-Related 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9131 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 umls:C3151753 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9210 BMP15 bone morphogenetic protein 15 umls:C1845294 Ovarian Dysgenesis 2 0.62 4 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 11200 CHEK2 checkpoint kinase 2 umls:C1836482 Li-Fraumeni Syndrome 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 203 AK1 adenylate kinase 1 umls:C2675459 Adenylate Kinase Deficiency, Hemolytic Anemia Due To 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0266313 Allanson Pantzar McLeod syndrome 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C2750732 Noonan Syndrome 6 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C1860991 Noonan syndrome 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1950 EGF epidermal growth factor umls:C2673648 Hypomagnesemia 4, Renal 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5173 PDYN prodynorphin umls:C1853250 Spinocerebellar ataxia 23 0.62 4 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2488 FSHB follicle stimulating hormone, beta polypeptide umls:C1856716 Follicle-stimulating hormone deficiency, isolated 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2688 GH1 growth hormone 1 umls:C2748571 Isolated Growth Hormone Deficiency, Type IB 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 925 CD8A CD8a molecule umls:C1837065 CD8 Deficiency, Familial 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C1851536 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C0700635 Strudwick syndrome 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C1858079 Osteoarthritis with Mild Chondrodysplasia 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1281 COL3A1 collagen, type III, alpha 1 umls:C0268337 Ehlers-Danlos syndrome type 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6708 SPTA1 spectrin, alpha, erythrocytic 1 umls:C1851741 Elliptocytosis 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6708 SPTA1 spectrin, alpha, erythrocytic 1 umls:C0520739 Pyropoikilocytosis, Hereditary 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2243 FGA fibrinogen alpha chain umls:C0268389 Amyloidosis, familial visceral 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1134 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) umls:C1854678 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1134 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) umls:C1837122 Myasthenic Syndrome, Congenital, Fast-Channel 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C1969038 Renal Tubular Acidosis, Distal, With Hemolytic Anemia 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7276 TTR transthyretin umls:C2750824 Dystransthyretinemic Euthyroidal Hyperthyroxinemia 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5956 OPN1LW opsin 1 (cone pigments), long-wave-sensitive umls:C0339537 Blue cone monochromatism 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C2676759 Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 226 ALDOA aldolase A, fructose-bisphosphate umls:C0272066 Glycogen Storage Disease XII 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3848 KRT1 keratin 1, type II umls:C1843463 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2165 F13B coagulation factor XIII, B polypeptide umls:C2750481 Factor XIII, B Subunit, Deficiency Of 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4747 NEFL neurofilament, light polypeptide umls:C1843164 Charcot-Marie-Tooth disease, Type 1F 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7173 TPO thyroid peroxidase umls:C1291299 Thyroid Dyshormonogenesis 2A 0.62 15 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1146 CHRNG cholinergic receptor, nicotinic, gamma (muscle) umls:C1854678 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5660 PSAP prosaposin umls:C1864651 Gaucher Disease, Atypical, Due To Saposin C Deficiency 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7369 UMOD uromodulin umls:C1835934 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7169 TPM2 tropomyosin 2 (beta) umls:C1836447 Nemaline myopathy 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6439 SFTPB surfactant protein B umls:C1968602 Surfactant Metabolism Dysfunction, Pulmonary, 1 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2067 ERCC1 excision repair cross-complementation group 1 umls:C1853100 Cerebrooculofacioskeletal Syndrome 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1991 ELANE elastase, neutrophil expressed umls:C1859966 Neutropenia, Severe Congenital, Autosomal Dominant 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4634 MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow umls:C1837471 Cardiomyopathy, Familial Hypertrophic, 8 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7168 TPM1 tropomyosin 1 (alpha) umls:C1861863 Cardiomyopathy, Familial Hypertrophic, 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7168 TPM1 tropomyosin 1 (alpha) umls:C2678476 Cardiomyopathy, Dilated, 1y 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3938 LCT lactase umls:C0268179 Lactase Deficiency, Congenital 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2736 GLI2 GLI family zinc finger 2 umls:C1835819 Holoprosencephaly 9 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7068 THRB thyroid hormone receptor, beta umls:C1840364 Thyroid Hormone Resistance, Selective Pituitary 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2690 GHR growth hormone receptor umls:C1858656 Short Stature, Idiopathic, Autosomal 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2779 GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 umls:C1864870 Night Blindness, Congenital Stationary, Autosomal Dominant 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6440 SFTPC surfactant protein C umls:C1970470 Surfactant Metabolism Dysfunction, Pulmonary, 2 0.62 5 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1019 CDK4 cyclin-dependent kinase 4 umls:C1836892 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 291 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 umls:C1836460 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 0.62 4 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5744 PTHLH parathyroid hormone-like hormone umls:C3150644 BRACHYDACTYLY, TYPE E2 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 652 BMP4 bone morphogenetic protein 4 umls:C2677434 Orofacial Cleft 11 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 652 BMP4 bone morphogenetic protein 4 umls:C1864689 Microphthalmia, Syndromic 6 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C3495498 Cardiomyopathy, Familial Hypertrophic, 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C1834481 Cardiomyopathy, Dilated, 1s 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1535 CYBA cytochrome b-245, alpha polypeptide umls:C1856255 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 0.62 5 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C2750466 Cardiomyopathy, Dilated, 1EE 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2027 ENO3 enolase 3 (beta, muscle) umls:C2752027 Glycogen Storage Disease XIII 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1302 COL11A2 collagen, type XI, alpha 2 umls:C1864746 Deafness, Autosomal Recessive 53 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1340 COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) umls:C0268237 Cytochrome-c Oxidase Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C3150970 NOONAN SYNDROME 7 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1369 CPN1 carboxypeptidase N, polypeptide 1 umls:C0398782 Carboxypeptidase N Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3753 KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 umls:C2676723 Jervell And Lange-Nielsen Syndrome 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1438 CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) umls:C2677877 Surfactant Metabolism Dysfunction, Pulmonary, 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5261 PHKG2 phosphorylase kinase, gamma 2 (testis) umls:C2751643 Glycogen Storage Disease IXC 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5896 RAG1 recombination activating gene 1 umls:C2673536 Combined Cellular And Humoral Immune Defects With Granulomas 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5896 RAG1 recombination activating gene 1 umls:C1835931 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1832 DSP desmoplakin umls:C1843896 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2623 GATA1 GATA binding protein 1 (globin transcription factor 1) umls:C1839161 Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 176 ACAN aggrecan umls:C2748544 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2038 EPB42 erythrocyte membrane protein band 4.2 umls:C2675192 Spherocytosis, Type 5 0.62 4 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7253 TSHR thyroid stimulating hormone receptor umls:C1863959 Hyperthyroidism, Familial Gestational 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1674 DES desmin umls:C1867005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C1854335 Epilepsy, Nocturnal Frontal Lobe, Type 3 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2068 ERCC2 excision repair cross-complementation group 2 umls:C1853102 Cerebrooculofacioskeletal Syndrome 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7414 VCL vinculin umls:C1969639 Cardiomyopathy, Dilated, 1w 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7414 VCL vinculin umls:C2750459 Cardiomyopathy, Familial Hypertrophic, 15 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C1858674 Generalized Epilepsy With Febrile Seizures Plus, Type 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7137 TNNI3 troponin I type 3 (cardiac) umls:C2678474 Cardiomyopathy, Dilated, 2a 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7137 TNNI3 troponin I type 3 (cardiac) umls:C2750091 Cardiomyopathy, Dilated, 1FF 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7137 TNNI3 troponin I type 3 (cardiac) umls:C1860752 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4688 NCF2 neutrophil cytosolic factor 2 umls:C1856245 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 0.62 5 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6927 HNF1A HNF1 homeobox A umls:C2675866 Diabetes Mellitus, Insulin-Dependent, 20 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2316 FLNA filamin A, alpha umls:C1845235 Heterotopia, Periventricular, Ehlers-Danlos Variant 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6390 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) umls:C1861848 PARAGANGLIOMAS 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1001 CDH3 cadherin 3, type 1, P-cadherin (placental) umls:C1832162 Juvenile macular degeneration and hypotrichosis 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 umls:C2750078 Hypophosphatemic Rickets, Autosomal Recessive, 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C1864852 CATSHL syndrome 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1376 CPT2 carnitine palmitoyltransferase 2 umls:C1833508 Carnitine Palmitoyltransferase II Deficiency, Late-Onset 0.62 9 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5961 PRPH2 peripherin 2 (retinal degeneration, slow) umls:C1868569 Patterned dystrophy of retinal pigment epithelium 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4359 MPZ myelin protein zero umls:C1843075 Charcot-Marie-Tooth Disease, Dominant Intermediate D 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4792 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha umls:C2677481 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5080 PAX6 paired box 6 umls:C1833797 Optic Nerve Hypoplasia, Bilateral 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5350 PLN phospholamban umls:C1835928 Cardiomyopathy, Dilated, 1p 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1417 CRYBB3 crystallin, beta B3 umls:C1857853 Cataract, Congenital Nuclear, Autosomal Recessive 2 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5199 CFP complement factor properdin umls:C1839454 Properdin deficiency, X-linked 0.62 4 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5449 POU1F1 POU class 1 homeobox 1 umls:C2751608 Pituitary Hormone Deficiency, Combined, 1 0.62 8 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C2675750 Deafness, Autosomal Dominant 3A 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5122 PCSK1 proprotein convertase subtilisin/kexin type 1 umls:C1833053 Proprotein Convertase 1 3 Deficiency 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 185 AGTR1 angiotensin II receptor, type 1 umls:C0266313 Allanson Pantzar McLeod syndrome 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5313 PKLR pyruvate kinase, liver and RBC umls:C1863224 Adenosine Triphosphate, Elevated, Of Erythrocytes 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2254 FGF9 fibroblast growth factor 9 umls:C2751826 Multiple Synostoses Syndrome 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5015 OTX2 orthodenticle homeobox 2 umls:C1864690 Microphthalmia, Syndromic 5 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 767 CA8 carbonic anhydrase VIII umls:C2750509 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5962 RDX radixin umls:C1970239 Deafness, Autosomal Recessive, 24 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3239 HOXD13 homeobox D13 umls:C0220664 Brachydactyly, Type D 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2645 GCK glucokinase (hexokinase 4) umls:C1865290 Hyperinsulinemic hypoglycemia, familial, 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C1834478 Macrothrombocytopenia progressive deafness 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 88 ACTN2 actinin, alpha 2 umls:C2677338 Cardiomyopathy, Dilated, 1AA 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4629 MYH11 myosin, heavy chain 11, smooth muscle umls:C1851504 Aortic aneurysm, familial thoracic 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2324 FLT4 fms-related tyrosine kinase 4 umls:C1865871 Hemangioma, capillary infantile 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3791 KDR kinase insert domain receptor umls:C1865871 Hemangioma, capillary infantile 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C2751666 Bronchiectasis With Or Without Elevated Sweat Chloride 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6935 ZEB1 zinc finger E-box binding homeobox 1 umls:C2750448 Corneal Dystrophy, Fuchs Endothelial, 6 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 672 BRCA1 breast cancer 1, early onset umls:C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2677 GGCX gamma-glutamyl carboxylase umls:C1835813 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 974 CD79B CD79b molecule, immunoglobulin-associated beta umls:C3150207 AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8242 KDM5C lysine (K)-specific demethylase 5C umls:C1845243 Mental Retardation, X-Linked, Syndromic, Jarid1c-Related 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7102 TSPAN7 tetraspanin 7 umls:C1846174 Mental Retardation, X-Linked 58 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7112 TMPO thymopoietin umls:C3151039 Cardiomyopathy, Dilated, 1t 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2892 GRIA3 glutamate receptor, ionotropic, AMPA 3 umls:C2678051 Mental Retardation, X-Linked 94 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7454 WAS Wiskott-Aldrich syndrome umls:C1845987 Neutropenia, Severe Congenital, X-Linked 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C1838547 Melanoma-Pancreatic Cancer Syndrome 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C1838049 Epilepsy, Nocturnal Frontal Lobe, Type 1 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10102 TSFM Ts translation elongation factor, mitochondrial umls:C1864840 Combined Oxidative Phosphorylation Deficiency 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4322 MMP13 matrix metallopeptidase 13 (collagenase 3) umls:C1865832 Spondyloepimetaphyseal Dysplasia, Missouri Type 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 36 ACADSB acyl-CoA dehydrogenase, short/branched chain umls:C1864912 2-Methylbutyryl-CoA Dehydrogenase Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2992 GYG1 glycogenin 1 umls:C3150754 GLYCOGEN STORAGE DISEASE XV 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2729 GCLC glutamate-cysteine ligase, catalytic subunit umls:C1856603 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3762 KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5 umls:C3150733 LONG QT SYNDROME 13 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 22948 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) umls:C1850395 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 22934 RPIA ribose 5-phosphate isomerase A umls:C1291609 Ribose 5-Phosphate Isomerase Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7284 TUFM Tu translation elongation factor, mitochondrial umls:C1857682 Combined Oxidative Phosphorylation Deficiency 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 16 AARS alanyl-tRNA synthetase umls:C2750090 Charcot-Marie-Tooth Disease, Axonal, Type 2n 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5663 PSEN1 presenilin 1 umls:C3160720 Cardiomyopathy, Dilated, 1u 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5903 RANBP2 RAN binding protein 2 umls:C2675556 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5664 PSEN2 presenilin 2 umls:C1847200 Alzheimer disease type 4 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1785 DNM2 dynamin 2 umls:C1834558 Myopathy, Centronuclear, Autosomal Dominant 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1785 DNM2 dynamin 2 umls:C1847902 Charcot-Marie-Tooth Disease, Dominant Intermediate B 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5146 PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime umls:C2751308 Cone Dystrophy 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 347344 ZNF81 zinc finger protein 81 umls:C1845333 Mental Retardation, X-Linked 45 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4204 MECP2 methyl CpG binding protein 2 umls:C1968550 Mental Retardation, X-Linked, Syndromic 13 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6777 STAT5B signal transducer and activator of transcription 5B umls:C1855548 Laron syndrome type 2 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C1837014 Atrial Fibrillation, Familial, 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C1865019 Short QT Syndrome 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1184 CLCN5 chloride channel, voltage-sensitive 5 umls:C1839874 Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1187 CLCNKA chloride channel, voltage-sensitive Ka umls:C2751312 Bartter Syndrome, Type 4b 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4935 GPR143 G protein-coupled receptor 143 umls:C3151752 NYSTAGMUS 6, CONGENITAL, X-LINKED 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6718 AKR1D1 aldo-keto reductase family 1, member D1 umls:C1856127 Bile acid synthesis defect, congenital, 2 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1482 NKX2-5 NK2 homeobox 5 umls:C2673630 Hypothyroidism, Congenital, Nongoitrous, 5 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8802 SUCLG1 succinate-CoA ligase, alpha subunit umls:C3151476 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1414 CRYBB1 crystallin, beta B1 umls:C1969062 Cataract, Congenital Nuclear, Autosomal Recessive 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1175 AP2S1 adaptor-related protein complex 2, sigma 1 subunit umls:C1833372 Familial benign hypercalcemia, type 3 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6566 SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1 umls:C1855577 Erythrocyte Lactate Transporter Defect 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5428 POLG polymerase (DNA directed), gamma umls:C1834846 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5428 POLG polymerase (DNA directed), gamma umls:C3150914 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8565 YARS tyrosyl-tRNA synthetase umls:C1842237 Charcot-Marie-Tooth Disease, Dominant Intermediate C 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3158 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) umls:C2751532 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1013 CDH15 cadherin 15, type 1, M-cadherin (myotubule) umls:C2675488 Mental Retardation, Autosomal Dominant 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5019 OXCT1 3-oxoacid CoA transferase 1 umls:C0342792 Succinyl-CoA:3-oxoacid CoA transferase deficiency 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5897 RAG2 recombination activating gene 2 umls:C2673536 Combined Cellular And Humoral Immune Defects With Granulomas 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 859 CAV3 caveolin 3 umls:C0241005 CREATINE PHOSPHOKINASE, ELEVATED SERUM 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9132 KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4 umls:C2677637 Deafness, Autosomal Dominant 2A 0.62 5 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54361 WNT4 wingless-type MMTV integration site family, member 4 umls:C2675014 Mullerian Aplasia and Hyperandrogenism 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54361 WNT4 wingless-type MMTV integration site family, member 4 umls:C2678492 Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57010 CABP4 calcium binding protein 4 umls:C1864877 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 668 FOXL2 forkhead box L2 umls:C1837008 Premature Ovarian Failure 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 338917 VSX2 visual system homeobox 2 umls:C1864721 Microphthalmia, Isolated, with Coloboma 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 338917 VSX2 visual system homeobox 2 umls:C1864720 Microphthalmia, Isolated 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5728 PTEN phosphatase and tensin homolog umls:C1854416 Macrocephaly Autism Syndrome 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 60 ACTB actin, beta umls:C1846331 Juvenile-onset dystonia 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1 umls:C1970827 Phosphoribosylpyrophosphate Synthetase Superactivity 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1 umls:C1844677 Deafness, X-Linked 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5092 PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha umls:C1849700 Hyperphenylalaninemia with primapterinuria 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4069 LYZ lysozyme umls:C0268389 Amyloidosis, familial visceral 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6812 STXBP1 syntaxin binding protein 1 umls:C2677326 Epileptic Encephalopathy, Early Infantile, 4 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C2673186 Aortic Aneurysm, Familial Thoracic 6 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6231 RPS26 ribosomal protein S26 umls:C2750080 Diamond-Blackfan Anemia 10 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6135 RPL11 ribosomal protein L11 umls:C2675512 Diamond-Blackfan Anemia 7 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 71 ACTG1 actin gamma 1 umls:C1858172 Deafness, Autosomal Dominant 20 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7134 TNNC1 troponin C type 1 (slow) umls:C2678475 Cardiomyopathy, Dilated, 1z 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7134 TNNC1 troponin C type 1 (slow) umls:C2750472 Cardiomyopathy, Familial Hypertrophic, 13 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C1858806 Cone-Rod Dystrophy 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3891 KRT85 keratin 85, type II umls:C1865951 Ectodermal Dysplasia, Pure Hair-Nail Type 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 11281 POU6F2 POU class 6 homeobox 2 umls:C1832099 Wilms tumor and radial bilateral aplasia 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 18 ABAT 4-aminobutyrate aminotransferase umls:C0342708 Gamma aminobutyric acid transaminase deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57817 HAMP hepcidin antimicrobial peptide umls:C1865616 Hemochromatosis, Type 2B 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 56945 MRPS22 mitochondrial ribosomal protein S22 umls:C2673642 Combined Oxidative Phosphorylation Deficiency 5 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54205 CYCS cytochrome c, somatic umls:C2677608 Thrombocytopenia 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5250 SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 umls:C1835845 Mitochondrial Phosphate Carrier Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 768206 PRCD progressive rod-cone degeneration umls:C1864621 Retinitis Pigmentosa 36 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 861 RUNX1 runt-related transcription factor 1 umls:C1832388 Platelet Disorder, Familial, with Associated Myeloid Malignancy 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 287 ANK2 ankyrin 2, neuronal umls:C1970119 Cardiac Arrhythmia, Ankyrin-B-Related 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C2751295 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1824 DSC2 desmocollin 2 umls:C1864850 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5745 PTH1R parathyroid hormone 1 receptor umls:C0265295 Jansen type metaphyseal chondrodysplasia 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 538 ATP7A ATPase, Cu++ transporting, alpha polypeptide umls:C1845359 Spinal Muscular Atrophy, Distal, X-Linked 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1145 CHRNE cholinergic receptor, nicotinic, epsilon (muscle) umls:C1837122 Myasthenic Syndrome, Congenital, Fast-Channel 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6736 SRY sex determining region Y umls:C2748896 46,Xy Gonadal Dysgenesis, Complete, Sry-Related 0.62 22 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7704 ZBTB16 zinc finger and BTB domain containing 16 umls:C2676231 Skeletal Defects, Genital Hypoplasia, And Mental Retardation 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6569 SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 umls:C2676786 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1144 CHRND cholinergic receptor, nicotinic, delta (muscle) umls:C1854678 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1144 CHRND cholinergic receptor, nicotinic, delta (muscle) umls:C1837122 Myasthenic Syndrome, Congenital, Fast-Channel 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 783 CACNB2 calcium channel, voltage-dependent, beta 2 subunit umls:C2678477 Brugada Syndrome 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6833 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 umls:C0271714 Hypoglycemia, leucine-induced 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 348938 NIPAL4 NIPA-like domain containing 4 umls:C2677065 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 91624 NEXN nexilin (F actin binding protein) umls:C2751084 Cardiomyopathy, Dilated, 1CC 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9897 KIAA0196 KIAA0196 umls:C1863704 Spastic paraplegia 8, autosomal dominant 0.62 4 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3798 KIF5A kinesin family member 5A umls:C1858712 Spastic paraplegia 10, autosomal dominant 0.62 5 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2296 FOXC1 forkhead box C1 umls:C1866560 Iridogoniodysgenesis type1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2296 FOXC1 forkhead box C1 umls:C2678503 AXENFELD-RIEGER SYNDROME, TYPE 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8988 HSPB3 heat shock 27kDa protein 3 umls:C3150619 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C2751825 Premature Ovarian Failure 7 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4647 MYO7A myosin VIIA umls:C1832475 Deafness, Autosomal Dominant 11 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6640 SNTA1 syntrophin, alpha 1 umls:C2751830 Long Qt Syndrome 12 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2273 FHL1 four and a half LIM domains 1 umls:C2678061 Scapuloperoneal Myopathy, X-Linked Dominant 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2273 FHL1 four and a half LIM domains 1 umls:C2678055 Myopathy, X-Linked, With Postural Muscle Atrophy 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5913 RAPSN receptor-associated protein of the synapse umls:C1276035 Pena Shokeir syndrome, type 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5913 RAPSN receptor-associated protein of the synapse umls:C1837091 Myasthenic syndrome, congenital, type Id 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1807 DPYS dihydropyrimidinase umls:C0342803 Dihydropyrimidinase Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1829 DSG2 desmoglein 2 umls:C1857777 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1639 DCTN1 dynactin 1 umls:C1843315 Neuronopathy, Distal Hereditary Motor, Type Viib 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1832680 Cardiomyopathy, Dilated, 1E 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C1864623 Diabetes Mellitus, Transient Neonatal, 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 84733 CBX2 chromobox homolog 2 umls:C2751317 46, XY Sex Reversal 5 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3735 KARS lysyl-tRNA synthetase umls:C3150897 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5459 POU4F3 POU class 4 homeobox 3 umls:C1865366 Deafness, Autosomal Dominant 15 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10484 SEC23A Sec23 homolog A (S. cerevisiae) umls:C1843042 Craniolenticulosutural Dysplasia 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6491 STIL SCL/TAL1 interrupting locus umls:C2675187 Microcephaly, Primary Autosomal Recessive, 7 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C0521723 Corneal dystrophy, epithelial basement membrane 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7050 TGIF1 TGFB-induced factor homeobox 1 umls:C1840528 Holoprosencephaly 4 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1135 CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) umls:C1835905 Epilepsy, Nocturnal Frontal Lobe, Type 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C1855739 Indifference to Pain, Congenital, Autosomal Recessive 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3033 HADH hydroxyacyl-CoA dehydrogenase umls:C1291230 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3033 HADH hydroxyacyl-CoA dehydrogenase umls:C1864948 Hyperinsulinemic Hypoglycemia, Familial, 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1716 DGUOK deoxyguanosine kinase umls:C3151513 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 64423 INF2 inverted formin, FH2 and WH2 domain containing umls:C2750475 Focal Segmental Glomerulosclerosis 5 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 440138 ALG11 ALG11, alpha-1,2-mannosyltransferase umls:C3150913 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 200894 ARL13B ADP-ribosylation factor-like 13B umls:C2676771 Joubert Syndrome 8 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79158 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits umls:C0033788 Pseudo-Hurler polydystrophy 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 153201 SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2 umls:C0543541 Glycinuria with or without Oxalate Urolithiasis 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 375298 CERKL ceramide kinase-like umls:C1842127 Retinitis Pigmentosa 26 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 91147 TMEM67 transmembrane protein 67 umls:C3150796 NEPHRONOPHTHISIS 11 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54809 SAMD9 sterile alpha motif domain containing 9 umls:C1864861 Tumoral Calcinosis, Normophosphatemic, Familial 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 346007 EYS eyes shut homolog (Drosophila) umls:C1864446 Retinitis Pigmentosa 25 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57165 GJC2 gap junction protein, gamma 2, 47kDa umls:C2750784 Spastic Paraplegia 44, Autosomal Recessive 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57165 GJC2 gap junction protein, gamma 2, 47kDa umls:C3150732 LYMPHEDEMA, HEREDITARY, IC 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 282996 RBM20 RNA binding motif protein 20 umls:C2750995 Cardiomyopathy, Dilated, 1DD 0.62 4 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 118813 ZFYVE27 zinc finger, FYVE domain containing 27 umls:C1853251 Spastic Paraplegia 33, Autosomal Dominant 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 345895 RSPH4A radial spoke head 4 homolog A (Chlamydomonas) umls:C2675229 Ciliary Dyskinesia, Primary, 11 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79133 NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 umls:C1838979 Mitochondrial complex I deficiency 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 23322 RPGRIP1L RPGRIP1-like umls:C1969053 Joubert Syndrome 7 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 23322 RPGRIP1L RPGRIP1-like umls:C1969052 Meckel Syndrome, Type 5 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 392255 GDF6 growth differentiation factor 6 umls:C2751307 Microphthalmia, Isolated 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 26275 HIBCH 3-hydroxyisobutyryl-CoA hydrolase umls:C0342738 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 254065 BRWD3 bromodomain and WD repeat domain containing 3 umls:C1970841 Mental Retardation, X-Linked 93 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 147372 CCBE1 collagen and calcium binding EGF domains 1 umls:C0340834 Hennekam lymphangiectasia lymphedema syndrome 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 120227 CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 umls:C1838657 Vitamin D Hydroxylation-Deficient Rickets, Type 1B 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 26058 GIGYF2 GRB10 interacting GYF protein 2 umls:C1843211 Parkinson Disease 11 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 90167 FRMD7 FERM domain containing 7 umls:C1839580 Nystagmus 1, congenital, X- linked 0.62 12 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 404672 GTF2H5 general transcription factor IIH, polypeptide 5 umls:C1866504 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 23389 MED13L mediator complex subunit 13-like umls:C1837341 Transposition of the Great Arteries, Dextro-Looped 1 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 81857 MED25 mediator complex subunit 25 umls:C1854150 Charcot-Marie-Tooth disease, Type 2B2 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7846 TUBA1A tubulin, alpha 1a umls:C1969029 Lissencephaly 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 203859 ANO5 anoctamin 5 umls:C1969785 Muscular Dystrophy, Limb-Girdle, Type 2L 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 203859 ANO5 anoctamin 5 umls:C2750076 Miyoshi Muscular Dystrophy 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 50484 RRM2B ribonucleotide reductase M2 B (TP53 inducible) umls:C2749861 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 121391 KRT74 keratin 74, type II umls:C1860238 WOOLLY HAIR, AUTOSOMAL DOMINANT 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 23064 SETX senataxin umls:C1865409 Amyotrophic Lateral Sclerosis 4, Juvenile 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79784 MYH14 myosin, heavy chain 14, non-muscle umls:C1833503 Deafness, Autosomal Dominant 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4308 TRPM1 transient receptor potential cation channel, subfamily M, member 1 umls:C2750747 CSNB1C 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 286676 ILDR1 immunoglobulin-like domain containing receptor 1 umls:C1864818 Deafness, Autosomal Recessive 42 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 112817 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 umls:C3150878 HYPEROXALURIA, PRIMARY, TYPE III 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 166785 MMAA methylmalonic aciduria (cobalamin deficiency) cblA type umls:C1855109 Methylmalonic aciduria cblA type 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6330 SCN4B sodium channel, voltage gated, type IV beta subunit umls:C2678484 Long Qt Syndrome 10 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 55975 KLHL7 kelch-like family member 7 umls:C2751986 Retinitis Pigmentosa 42 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 84623 KIRREL3 kin of IRRE like 3 (Drosophila) umls:C2675487 Mental Retardation, Autosomal Dominant 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8425 LTBP4 latent transforming growth factor beta binding protein 4 umls:C2750804 Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 23171 GPD1L glycerol-3-phosphate dehydrogenase 1-like umls:C2673193 Brugada Syndrome 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 149461 CLDN19 claudin 19 umls:C1855466 Hypomagnesemia 5, Renal, with Ocular Involvement 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 130557 ZNF513 zinc finger protein 513 umls:C3150879 RETINITIS PIGMENTOSA 58 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 255738 PCSK9 proprotein convertase subtilisin/kexin type 9 umls:C1863551 Hypercholesterolemia, Autosomal Dominant, 3 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 83959 SLC4A11 solute carrier family 4, sodium borate transporter, member 11 umls:C1857569 Corneal endothelial dystrophy type 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 83959 SLC4A11 solute carrier family 4, sodium borate transporter, member 11 umls:C2750450 Corneal Dystrophy, Fuchs Endothelial, 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 80746 TSEN2 TSEN2 tRNA splicing endonuclease subunit umls:C2676466 Pontocerebellar Hypoplasia Type 2B 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 123872 DNAAF1 dynein, axonemal, assembly factor 1 umls:C2750790 Ciliary Dyskinesia, Primary, 13 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 3955 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase umls:C1853296 SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 259236 TMIE transmembrane inner ear umls:C1832992 Deafness, Autosomal Recessive 6 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 90411 MCFD2 multiple coagulation factor deficiency 2 umls:C3150889 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 134430 WDR36 WD repeat domain 36 umls:C1835933 Glaucoma 1, Open Angle, G 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 56997 ADCK3 aarF domain containing kinase 3 umls:C2677589 Spinocerebellar Ataxia, Autosomal Recessive 9 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6100 RP9 retinitis pigmentosa 9 (autosomal dominant) umls:C1867300 Retinitis Pigmentosa 9 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57526 PCDH19 protocadherin 19 umls:C1848137 Epilepsy, Female-Restricted, with Mental Retardation 0.62 9 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 222662 LHFPL5 lipoma HMGIC fusion partner-like 5 umls:C1853223 Deafness, Autosomal Recessive 67 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54332 GDAP1 ganglioside induced differentiation associated protein 1 umls:C1843183 Charcot-Marie-Tooth disease, Type 4A, axonal form 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54795 TRPM4 transient receptor potential cation channel, subfamily M, member 4 umls:C1970298 Progressive Familial Heart Block, Type Ib 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 84153 RNASEH2C ribonuclease H2, subunit C umls:C1835916 Aicardi-Goutieres Syndrome 3 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79983 POF1B premature ovarian failure, 1B umls:C1845105 Premature Ovarian Failure 2b 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7273 TTN titin umls:C1861065 Cardiomyopathy, Familial Hypertrophic, 9 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) umls:C3150412 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) umls:C3150417 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 23385 NCSTN nicastrin umls:C1840560 Hidradenitis suppurativa, familial 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9896 FIG4 FIG4 phosphoinositide 5-phosphatase umls:C2675491 Amyotrophic Lateral Sclerosis 11 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6103 RPGR retinitis pigmentosa GTPase regulator umls:C2749137 Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1896 EDA ectodysplasin A umls:C1970757 Tooth Agenesis, Selective, X-Linked, 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2693 GHSR growth hormone secretagogue receptor umls:C1858656 Short Stature, Idiopathic, Autosomal 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C1848805 Thyroid Dyshormonogenesis 1 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 89884 LHX4 LIM homeobox 4 umls:C2678408 Pituitary Hormone Deficiency, Combined, 4 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 55572 FOXRED1 FAD-dependent oxidoreductase domain containing 1 umls:C1838979 Mitochondrial complex I deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10133 OPTN optineurin umls:C3150692 AMYOTROPHIC LATERAL SCLEROSIS 12 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 84876 ORAI1 ORAI calcium release-activated calcium modulator 1 umls:C2748568 Immune dysfunction with T-cell inactivation due to calcium entry defect 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54977 SLC25A38 solute carrier family 25, member 38 umls:C2673914 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 29071 C1GALT1C1 C1GALT1-specific chaperone 1 umls:C0272137 Tn Syndrome 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 84839 RAX2 retina and anterior neural fold homeobox 2 umls:C1835865 Cone-Rod Dystrophy 11 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8642 DCHS1 dachsous cadherin-related 1 umls:C1832390 Van Maldergem Wetzburger Verloes syndrome 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 84701 COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung) umls:C2675184 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57096 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 umls:C2750720 Cone-Rod Dystrophy 13 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 154881 KCTD7 potassium channel tetramerization domain containing 7 umls:C2673257 Epilepsy, Progressive Myoclonic 3 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 144165 PRICKLE1 prickle homolog 1 (Drosophila) umls:C2676254 Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 145226 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) umls:C2675186 Leber Congenital Amaurosis 13 0.62 5 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 81607 PVRL4 poliovirus receptor-related 4 umls:C3150807 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8831 SYNGAP1 synaptic Ras GTPase activating protein 1 umls:C2675473 Mental Retardation, Autosomal Dominant 5 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 170302 ARX aristaless related homeobox umls:C0796124 Proud Syndrome 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 170302 ARX aristaless related homeobox umls:C0796244 Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 65217 PCDH15 protocadherin-related 15 umls:C1836027 Deafness, Autosomal Recessive 23 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 85476 GFM1 G elongation factor, mitochondrial 1 umls:C1836797 Combined Oxidative Phosphorylation Deficiency 1 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 56652 C10orf2 chromosome 10 open reading frame 2 umls:C1843851 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6326 SCN2A sodium channel, voltage gated, type II alpha subunit umls:C3150987 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2571 GAD1 glutamate decarboxylase 1 (brain, 67kDa) umls:C2751938 Cerebral Palsy, Spastic Quadriplegic, 1 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 11315 PARK7 parkinson protein 7 umls:C1853445 Parkinson Disease 7, Autosomal Recessive Early-Onset 0.62 4 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2672 GFI1 growth factor independent 1 transcription repressor umls:C1842930 Neutropenia, Nonimmune Chronic Idiopathic, Adult 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5308 PITX2 paired-like homeodomain 2 umls:C1867155 Ring dermoid of cornea 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C1855128 Methylcobalamin Deficiency, CblG Type 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2034 EPAS1 endothelial PAS domain protein 1 umls:C2673187 Erythrocytosis, Familial, 4 0.62 4 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5318 PKP2 plakophilin 2 umls:C1836906 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4653 MYOC myocilin, trabecular meshwork inducible glucocorticoid response umls:C1842028 Glaucoma 1, Open Angle, A 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10142 AKAP9 A kinase (PRKA) anchor protein 9 umls:C2678483 Long Qt Syndrome 11 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79001 VKORC1 vitamin K epoxide reductase complex, subunit 1 umls:C1843832 Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79042 TSEN34 TSEN34 tRNA splicing endonuclease subunit umls:C2676465 Pontocerebellar Hypoplasia Type 2C 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79188 TMEM43 transmembrane protein 43 umls:C1858379 Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 25915 NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 umls:C1838979 Mitochondrial complex I deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79083 MLPH melanophilin umls:C1836573 Griscelli syndrome type 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 78989 COLEC11 collectin sub-family member 11 umls:C0796279 Carnevale syndrome 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 83893 SPATA16 spermatogenesis associated 16 umls:C0403825 Globozoospermia 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 84667 HES7 hes family bHLH transcription factor 7 umls:C3150942 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 65109 UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) umls:C1970822 Mental Retardation, X-Linked, Syndromic 14 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 50939 IMPG2 interphotoreceptor matrix proteoglycan 2 umls:C3150819 RETINITIS PIGMENTOSA 56 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79068 FTO fat mass and obesity associated umls:C2752001 Growth Retardation, Developmental Delay, Coarse Facies, And Early Death 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 80326 WNT10A wingless-type MMTV integration site family, member 10A umls:C0796093 Odontoonychodermal dysplasia 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54583 EGLN1 egl-9 family hypoxia-inducible factor 1 umls:C1853286 Erythrocytosis, Familial, 3 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 84100 ARL6 ADP-ribosylation factor-like 6 umls:C3150808 RETINITIS PIGMENTOSA 55 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 51251 NT5C3A 5'-nucleotidase, cytosolic IIIA umls:C1849507 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 60529 ALX4 ALX homeobox 4 umls:C1865044 Parietal Foramina 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 64805 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 umls:C1853278 Bleeding Disorder Due To P2RY12 Defect 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 64170 CARD9 caspase recruitment domain family, member 9 umls:C1859353 Candidiasis familial chronic mucocutaneous, autosomal recessive 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 11078 TRIOBP TRIO and F-actin binding protein umls:C1853276 Deafness, Autosomal Recessive 28 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 80270 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 umls:C1843116 Bile acid synthesis defect, congenital, 1 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8626 TP63 tumor protein p63 umls:C1854442 Split-Hand/Foot Malformation 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 27249 MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria umls:C1848552 Methylmalonic Aciduria and Homocystinuria, CblD Type 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 64218 SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A umls:C1853214 Retinitis Pigmentosa 35 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 128866 CHMP4B charged multivesicular body protein 4B umls:C1854311 Cataract, posterior polar, 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 81027 TUBB1 tubulin, beta 1 class VI umls:C2751259 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 64321 SOX17 SRY (sex determining region Y)-box 17 umls:C3150927 VESICOURETERAL REFLUX 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 80207 OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) umls:C1833809 Optic atrophy and cataract, autosomal dominant 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 28976 ACAD9 acyl-CoA dehydrogenase family, member 9 umls:C1970173 Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 0.62 6 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 65055 REEP1 receptor accessory protein 1 umls:C1853247 Spastic Paraplegia 31, Autosomal Dominant 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 79751 SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 umls:C0270855 Epileptic Encephalopathy, Early Infantile, 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 25839 COG4 component of oligomeric golgi complex 4 umls:C3150736 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 53630 BCO1 beta-carotene oxygenase 1 umls:C2676023 Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 55764 IFT122 intraflagellar transport 122 umls:C0432235 Cranioectodermal Dysplasia 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 55835 CENPJ centromere protein J umls:C1842109 Microcephaly, Primary Autosomal Recessive, 6 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 64087 MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta) umls:C1859499 3-methylcrotonyl CoA carboxylase 2 deficiency 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 6092 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) umls:C1970483 Vesicoureteral Reflux 2 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 63929 XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial umls:C3150419 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9573 GDF3 growth differentiation factor 3 umls:C3150967 KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9573 GDF3 growth differentiation factor 3 umls:C3150968 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9573 GDF3 growth differentiation factor 3 umls:C3150969 MICROPHTHALMIA, ISOLATED 7 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 56606 SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 umls:C2677549 Hypouricemia, Renal, 2 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9440 MED17 mediator complex subunit 17 umls:C3150921 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 55163 PNPO pyridoxamine 5'-phosphate oxidase umls:C1864723 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 55149 MTPAP mitochondrial poly(A) polymerase umls:C3150925 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54949 SDHAF2 succinate dehydrogenase complex assembly factor 2 umls:C1866552 Paragangliomas 2 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 30813 VSX1 visual system homeobox 1 umls:C1835677 Keratoconus 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 29078 NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 umls:C1838979 Mitochondrial complex I deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 51259 TMEM216 transmembrane protein 216 umls:C1864148 Meckel syndrome type 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57545 CC2D2A coiled-coil and C2 domain containing 2A umls:C2676790 Meckel Syndrome, Type 6 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57545 CC2D2A coiled-coil and C2 domain containing 2A umls:C2676788 Joubert Syndrome 9 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57539 WDR35 WD repeat domain 35 umls:C3150874 CRANIOECTODERMAL DYSPLASIA 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 54344 DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 umls:C2752007 Congenital Disorder of Glycosylation, Type Io 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4640 MYO1A myosin IA umls:C1842939 Deafness, Autosomal Dominant 48 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C1856057 Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10516 FBLN5 fibulin 5 umls:C1837187 Macular Degeneration, Age-Related, 3 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 7227 TRPS1 trichorhinophalangeal syndrome I umls:C1860823 Trichorhinophalangeal Syndrome, Type III 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 11232 POLG2 polymerase (DNA directed), gamma 2, accessory subunit umls:C1864668 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 29958 DMGDH dimethylglycine dehydrogenase umls:C1853892 Dimethylglycine Dehydrogenase Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 26353 HSPB8 heat shock 22kDa protein 8 umls:C1834692 Neuropathy, Distal Hereditary Motor, Type IIA 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 4620 MYH2 myosin, heavy chain 2, skeletal muscle, adult umls:C1854106 Inclusion Body Myopathy 3, Autosomal Dominant 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 29954 POMT2 protein-O-mannosyltransferase 2 umls:C3150411 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 29954 POMT2 protein-O-mannosyltransferase 2 umls:C3150416 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 29954 POMT2 protein-O-mannosyltransferase 2 umls:C3150418 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57477 SHROOM4 shroom family member 4 umls:C1845530 Stocco dos Santos syndrome 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9056 SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 umls:C0268647 Lysinuric Protein Intolerance 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1308 COL17A1 collagen, type XVII, alpha 1 umls:C0268374 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 0.62 5 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 57057 TBX20 T-box 20 umls:C1969657 Atrial Septal Defect 4 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 374462 PTPRQ protein tyrosine phosphatase, receptor type, Q umls:C3150654 DEAFNESS, AUTOSOMAL RECESSIVE 84A 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10913 EDAR ectodysplasin A receptor umls:C1720965 Ectodermal Dysplasia 3, Anhidrotic 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 22858 ICK intestinal cell (MAK-like) kinase umls:C2675227 Endocrine-Cerebroosteodysplasia 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8036 SHOC2 soc-2 suppressor of clear homolog (C. elegans) umls:C1843181 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1073 CFL2 cofilin 2 (muscle) umls:C1853154 Nemaline Myopathy 7 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 51082 POLR1D polymerase (RNA) I polypeptide D, 16kDa umls:C3150983 TREACHER COLLINS SYNDROME 2 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 30062 RAX retina and anterior neural fold homeobox umls:C1970237 Microphthalmia, Isolated 3 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10021 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 umls:C1834144 Sick Sinus Syndrome 2, Autosomal Dominant 0.62 2 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 25939 SAMHD1 SAM domain and HD domain 1 umls:C2749659 Aicardi-Goutieres syndrome 5 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 1837 DTNA dystrobrevin, alpha umls:C1858725 Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10939 AFG3L2 AFG3-like AAA ATPase 2 umls:C1853249 Spinocerebellar ataxia 28 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10686 CLDN16 claudin 16 umls:C0268448 Hypomagnesemia primary 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10002 NR2E3 nuclear receptor subfamily 2, group E, member 3 umls:C1970163 Retinitis Pigmentosa 37 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 29968 PSAT1 phosphoserine aminotransferase 1 umls:C1970253 Phosphoserine Aminotransferase Deficiency 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10585 POMT1 protein-O-mannosyltransferase 1 umls:C1836373 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10585 POMT1 protein-O-mannosyltransferase 1 umls:C3150415 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10564 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) umls:C1842563 Heterotopia, Periventricular, Autosomal Recessive 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 10008 KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 umls:C2751089 Brugada Syndrome 6 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 2700 GJA3 gap junction protein, alpha 3, 46kDa umls:C1866078 Cataract, Zonular Pulverulent 3 0.62 15 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9992 KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 umls:C1862394 Atrial Fibrillation, Familial, 4 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 9992 KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 umls:C3150953 Long Qt Syndrome 6 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8517 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma umls:C1845117 Immunodeficiency without anhidrotic ectodermal dysplasia 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8517 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma umls:C1970879 Atypical Mycobacteriosis, Familial, X-Linked 1 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8517 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma umls:C1845073 Invasive Pneumococcal Disease, Recurrent Isolated, 2 0.62 0 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8792 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator umls:C2676766 Osteopetrosis, Autosomal Recessive 7 0.62 1 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 8671 SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 umls:C1970309 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 0.62 3 Biomarker, GeneticVariation CLINVAR, CTD_human, UNIPROT 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0028754 Obesity 0.61628858497199 182 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD, UNIPROT 11132 CAPN10 calpain 10 umls:C0011860 Diabetes Mellitus, Type 2 0.616008496462472 115 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 1050 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha umls:C0023467 Leukemia, Myeloid, Acute 0.615949657577649 142 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 3949 LDLR low density lipoprotein receptor umls:C0020443 Hypercholesterolemia 0.614893145784627 146 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 4854 NOTCH3 notch 3 umls:C0751587 CADASIL 0.613112661428216 172 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 2147 F2 coagulation factor II (thrombin) umls:C0398623 Thrombophilia 0.596649429588805 238 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, RGD 3569 IL6 interleukin 6 umls:C0011860 Diabetes Mellitus, Type 2 0.59290594204536 76 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 4287 ATXN3 ataxin 3 umls:C0024408 Machado-Joseph Disease 0.590939759261447 183 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 3643 INSR insulin receptor umls:C0011860 Diabetes Mellitus, Type 2 0.590225487103891 106 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, RGD, UNIPROT 3949 LDLR low density lipoprotein receptor umls:C0020445 Hyperlipoproteinemia Type II 0.588019272488775 693 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 324 APC adenomatous polyposis coli umls:C0032580 Adenomatous Polyposis Coli 0.58560962046434 630 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN 4869 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) umls:C0023467 Leukemia, Myeloid, Acute 0.585496695424045 266 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0027051 Myocardial Infarction 0.582954318025968 43 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 2022 ENG endoglin umls:C0039445 Telangiectasia, Hereditary Hemorrhagic 0.574515417573148 69 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 3043 HBB hemoglobin, beta umls:C0005283 beta-Thalassemia 0.570361233035669 315 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 2157 F8 coagulation factor VIII, procoagulant component umls:C0019069 Hemophilia A 0.569977948862638 189 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0029463 Osteosarcoma 0.569920287289547 135 Biomarker, GeneticVariation, Therapeutic BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 1756 DMD dystrophin umls:C0917713 Becker muscular dystrophy 0.568450972397894 198 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 7157 TP53 tumor protein p53 umls:C2239176 Carcinoma, Hepatocellular 0.56707308030956 497 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CLINVAR, CTD_human, GAD, LHGDN 4683 NBN nibrin umls:C0398791 Nijmegen Breakage Syndrome 0.564142748259488 104 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C0023976 Long QT Syndrome 0.563689056279393 229 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0006413 Burkitt Lymphoma 0.562500137508513 122 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN, MGD 6514 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 umls:C0011860 Diabetes Mellitus, Type 2 0.558149825435698 30 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C0751122 Severe myoclonic epilepsy of infancy 0.557394294164241 159 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 7337 UBE3A ubiquitin protein ligase E3A umls:C0162635 Angelman Syndrome 0.554981437272923 109 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 190 NR0B1 nuclear receptor subfamily 0, group B, member 1 umls:C0220766 X-linked adrenal hypoplasia congenita 0.55402054841124 121 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 6517 SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 umls:C0011860 Diabetes Mellitus, Type 2 0.551294245808995 48 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD, UNIPROT 5621 PRNP prion protein umls:C0206042 Insomnia, Fatal Familial 0.547569041150169 75 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 359 AQP2 aquaporin 2 (collecting duct) umls:C0162283 Diabetes Insipidus, Nephrogenic 0.547445431227435 58 Biomarker, GeneticVariation, Therapeutic BeFree, CLINVAR, CTD_human, LHGDN, RGD 8929 PHOX2B paired-like homeobox 2b umls:C1275808 Congenital central hypoventilation syndrome 0.547314500646189 81 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD, UNIPROT 8106 PABPN1 poly(A) binding protein, nuclear 1 umls:C0270952 Muscular Dystrophy, Oculopharyngeal 0.546447336103999 72 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 5979 RET ret proto-oncogene umls:C2931876 Hirschsprung disease 1 0.545154566691615 124 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 6834 SURF1 surfeit 1 umls:C0023264 Leigh Disease 0.5449105409285 56 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 2778 GNAS GNAS complex locus umls:C3494506 PSEUDOHYPOPARATHYROIDISM, TYPE IA 0.544381393028056 86 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 5728 PTEN phosphatase and tensin homolog umls:C0476089 Endometrial Carcinoma 0.543786074799745 111 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 355 FAS Fas cell surface death receptor umls:C1328840 Autoimmune Lymphoproliferative Syndrome 0.543296405706279 80 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD, UNIPROT 114327 EFHC1 EF-hand domain (C-terminal) containing 1 umls:C0270853 Myoclonic Epilepsy, Juvenile 0.543258544466536 39 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 9401 RECQL4 RecQ protein-like 4 umls:C0032339 Rothmund-Thomson Syndrome 0.541989258007213 53 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 1201 CLN3 ceroid-lipofuscinosis, neuronal 3 umls:C0751383 Juvenile neuronal ceroid lipofuscinosis 0.540667524528714 101 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 378884 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 umls:C0751783 Lafora Disease 0.540374467807001 39 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 2811 GP1BA glycoprotein Ib (platelet), alpha polypeptide umls:C0005129 Bernard-Soulier Syndrome 0.538459033667428 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 1497 CTNS cystinosin, lysosomal cystine transporter umls:C2931187 Cystinosis 0.538311940791634 30 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD, UNIPROT 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C2239176 Carcinoma, Hepatocellular 0.53802843622154 32 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD, UNIPROT 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C0023976 Long QT Syndrome 0.537809384293571 208 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 7389 UROD uroporphyrinogen decarboxylase umls:C0162566 Porphyria Cutanea Tarda 0.536944103877754 56 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 1180 CLCN1 chloride channel, voltage-sensitive 1 umls:C0027127 Myotonia Congenita 0.536582604282948 54 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 114798 SLITRK1 SLIT and NTRK-like family, member 1 umls:C0040517 Tourette Syndrome 0.536133723952442 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 5925 RB1 retinoblastoma 1 umls:C0035335 Retinoblastoma 0.53414843686529 273 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN 2812 GP1BB glycoprotein Ib (platelet), beta polypeptide umls:C0005129 Bernard-Soulier Syndrome 0.534108403198827 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 5053 PAH phenylalanine hydroxylase umls:C0031485 Phenylketonurias 0.533793880294674 263 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 1629 DBT dihydrolipoamide branched chain transacylase E2 umls:C0024776 Maple Syrup Urine Disease 0.533286853554659 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD, UNIPROT 1956 EGFR epidermal growth factor receptor umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.533177351658528 1400 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 773 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit umls:C1832884 Hemiplegic migraine, familial type 1 0.532190696514028 44 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 5376 PMP22 peripheral myelin protein 22 umls:C0270911 Charcot-Marie-Tooth disease, type IA 0.531077400104128 58 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 1760 DMPK dystrophia myotonica-protein kinase umls:C0027126 Myotonic Dystrophy 0.530803821619033 234 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 846 CASR calcium-sensing receptor umls:C1832645 Hyperparathyroidism, Neonatal Severe Primary 0.530489669093466 37 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 7399 USH2A Usher syndrome 2A (autosomal recessive, mild) umls:C0035334 Retinitis Pigmentosa 0.53016006108799 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, RGD 3952 LEP leptin umls:C0028754 Obesity 0.53 573 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD, RGD 1280 COL2A1 collagen, type II, alpha 1 umls:C2745959 Spondyloepiphyseal dysplasia, congenita 0.529355650813091 33 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 2175 FANCA Fanconi anemia, complementation group A umls:C3469521 FANCONI ANEMIA, COMPLEMENTATION GROUP A 0.52927831076637 76 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 3949 LDLR low density lipoprotein receptor umls:C0745103 HYPERCHOLESTEROLEMIA, FAMILIAL 0.529072146242997 60 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 1371 CPOX coproporphyrinogen oxidase umls:C0162531 Coproporphyria, Hereditary 0.528476173036696 27 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD, UNIPROT 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0265336 Keratitis, Ichthyosis, and Deafness (KID) Syndrome 0.528221632532716 29 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 5264 PHYH phytanoyl-CoA 2-hydroxylase umls:C0034960 Refsum Disease 0.527596695260302 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD, UNIPROT 1294 COL7A1 collagen, type VII, alpha 1 umls:C0079474 Recessive dystrophic epidermolysis bullosa 0.527577283345808 62 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 5078 PAX4 paired box 4 umls:C0011860 Diabetes Mellitus, Type 2 0.527304459957209 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, RGD 554 AVPR2 arginine vasopressin receptor 2 umls:C1563705 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED 0.526159760495339 57 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 8820 HESX1 HESX homeobox 1 umls:C0338503 Septo-Optic Dysplasia 0.526043904230884 26 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN, MGD, UNIPROT 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C1970109 Aromatase deficiency 0.526002626930565 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD, UNIPROT 3508 IGHMBP2 immunoglobulin mu binding protein 2 umls:C1858517 Spinal muscular atrophy with respiratory distress 1 0.525670091401873 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 2798 GNRHR gonadotropin-releasing hormone receptor umls:C0271623 Hypogonadotropic hypogonadism 0.52564178231375 48 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 2645 GCK glucokinase (hexokinase 4) umls:C0342277 Diabetes Mellitus, Type Ii, Autosomal Dominant 0.52538658683178 20 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 326 AIRE autoimmune regulator umls:C0085859 Polyglandular autoimmune syndrome type I 0.525309246785058 57 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2057 EPOR erythropoietin receptor umls:C0152264 Polycythemia, primary familial and congenital 0.525152113220284 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD, UNIPROT 6899 TBX1 T-box 1 umls:C0220704 Shprintzen syndrome 0.525025742214965 53 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0398738 Leukocyte adhesion deficiency type 1 0.524819577691592 24 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C1868675 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 0.524742237644871 52 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 5728 PTEN phosphatase and tensin homolog umls:C0265326 BANNAYAN-RILEY-RUVALCABA SYNDROME 0.524742237644871 52 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 773 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit umls:C0752124 SPINOCEREBELLAR ATAXIA 6 0.524507764033375 43 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0001193 apert syndrome 0.524458733074777 51 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C1864436 Muenke Syndrome 0.524252568551405 15 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 4359 MPZ myelin protein zero umls:C0393818 Charcot-Marie-Tooth disease, Type 4E 0.523685559411218 13 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 2072 ERCC4 excision repair cross-complementation group 4 umls:C0268140 Xeroderma Pigmentosum, Complementation Group F 0.523402054841124 12 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 1281 COL3A1 collagen, type III, alpha 1 umls:C0268338 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT 0.523373745753001 39 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 4292 MLH1 mutL homolog 1 umls:C0009405 Colorectal Neoplasms, Hereditary Nonpolyposis 0.523292552944993 51 AlteredExpression, Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, LHGDN 7248 TSC1 tuberous sclerosis 1 umls:C1854465 Tuberous Sclerosis 1 0.523167581229628 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD, UNIPROT 11093 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 umls:C1268935 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 0.523090241182907 49 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 1910 EDNRB endothelin receptor type B umls:C1848519 Waardenburg syndrome, type 4 0.522835045700937 10 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 2645 GCK glucokinase (hexokinase 4) umls:C0011860 Diabetes Mellitus, Type 2 0.52281260614472 160 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, MGD, RGD 1302 COL11A2 collagen, type XI, alpha 2 umls:C1855310 Megaepiphyseal dwarfism 0.522551541130843 9 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 3425 IDUA iduronidase, alpha-L- umls:C0086795 Hurler Syndrome 0.52252323204272 37 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 57192 MCOLN1 mucolipin 1 umls:C0238286 Mucolipidosis Type IV 0.52252323204272 36 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 7291 TWIST1 twist family bHLH transcription factor 1 umls:C0175699 Saethre-Chotzen Syndrome 0.522474201084121 44 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 umls:C1865343 Ossification of the posterior longitudinal ligament of the spine 0.522317067519347 1 Biomarker, GeneticVariation CTD_human, GAD, MGD, UNIPROT 1277 COL1A1 collagen, type I, alpha 1 umls:C0268358 Osteogenesis imperfecta, type 2A 0.522268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 4143 MAT1A methionine adenosyltransferase I, alpha umls:C0268621 Methionine Adenosyltransferase Deficiency 0.522268036560749 9 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 90 ACVR1 activin A receptor, type I umls:C0016037 Fibrodysplasia Ossificans Progressiva 0.522190696514028 44 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4488 MSX2 msh homeobox 2 umls:C1868598 Parietal Foramina 0.521984531990656 7 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 11005 SPINK5 serine peptidase inhibitor, Kazal type 5 umls:C0265962 Netherton Syndrome 0.521907191943934 43 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 3643 INSR insulin receptor umls:C0021655 Insulin Resistance 0.521585337596738 8 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, RGD 3032 HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit umls:C1969443 Trifunctional Protein Deficiency With Myopathy And Neuropathy 0.521417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 4758 NEU1 sialidase 1 (lysosomal sialidase) umls:C0268228 Neuraminidase 1 deficiency 0.521417522850468 9 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 114902 C1QTNF5 C1q and tumor necrosis factor related protein 5 umls:C1854065 Late-Onset Retinal Degeneration 0.521417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 9095 TBX19 T-box 19 umls:C0271583 ACTH Deficiency, Isolated 0.521134018280375 6 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 249 ALPL alkaline phosphatase, liver/bone/kidney umls:C0268413 Hypophosphatasia, Adult 0.521134018280375 24 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 3868 KRT16 keratin 16, type I umls:C2931923 Hyperkeratosis of the palms and soles and esophageal papillomas 0.521134018280375 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 2071 ERCC3 excision repair cross-complementation group 3 umls:C0268136 Xeroderma Pigmentosum, Complementation Group B 0.521134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 27031 NPHP3 nephronophthisis 3 (adolescent) umls:C1858392 Nephronophthisis 3 0.521134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 9516 LITAF lipopolysaccharide-induced TNF factor umls:C0270913 Charcot-Marie-Tooth disease, Type 1C 0.521134018280375 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 4261 CIITA class II, major histocompatibility complex, transactivator umls:C2931418 Bare lymphocyte syndrome 2 0.520850513710281 5 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 6103 RPGR retinitis pigmentosa GTPase regulator umls:C1845667 Retinitis Pigmentosa 3 0.520850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 5158 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta umls:C0035334 Retinitis Pigmentosa 0.520685792927858 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD 5376 PMP22 peripheral myelin protein 22 umls:C3495591 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 0.520567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 84059 GPR98 G protein-coupled receptor 98 umls:C2931213 Usher syndrome, type 2C 0.520567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 3299 HSF4 heat shock transcription factor 4 umls:C1861821 Cataract, zonular 0.520567009140187 4 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0020074 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 0.520489669093466 40 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 1690 COCH cochlin umls:C1832425 Deafness, Autosomal Dominant 9 0.520283504570094 9 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 7018 TF transferrin umls:C0521802 Congenital atransferrinemia 0.520283504570094 4 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 1621 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) umls:C0342687 dopamine beta hydroxylase deficiency 0.520283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 7078 TIMP3 TIMP metallopeptidase inhibitor 3 umls:C1850938 Fundus Dystrophy, Pseudoinflammatory, Of Sorsby 0.520283504570094 6 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 4247 MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase umls:C2931008 Congenital disorder of glycosylation type 2A 0.520283504570094 3 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 79659 DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 umls:C0036069 Asphyxiating Thoracic Dystrophy 3 0.520283504570094 4 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 55343 SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1 umls:C0398739 Congenital disorder of glycosylation, type 2C 0.520283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human, MGD, UNIPROT 27429 HTRA2 HtrA serine peptidase 2 umls:C1853202 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 0.52 1 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 3785 KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 umls:C3149074 SEIZURES, BENIGN FAMILIAL NEONATAL, 1 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C1866176 Exudative Vitreoretinopathy 4 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 1421 CRYGD crystallin, gamma D umls:C3540850 Cataract, Punctate, Progressive Juvenile-Onset 0.52 6 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0342646 Vitamin D-Dependent Rickets, Type 2A 0.52 9 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 6017 RLBP1 retinaldehyde binding protein 1 umls:C1843816 Bothnia Retinal Dystrophy 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 2068 ERCC2 excision repair cross-complementation group 2 umls:C1866504 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 3098 HK1 hexokinase 1 umls:C3150343 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 0.52 2 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 4594 MUT methylmalonyl CoA mutase umls:C1855114 Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 0.52 6 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C2674574 Aortic aneurysm, familial thoracic 3 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 1374 CPT1A carnitine palmitoyltransferase 1A (liver) umls:C1829703 Carnitine palmitoyl transferase 1A deficiency 0.52 6 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 70 ACTC1 actin, alpha, cardiac muscle 1 umls:C2677506 Cardiomyopathy, Familial Hypertrophic, 11 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 7849 PAX8 paired box 8 umls:C1869118 Hypothyroidism, Congenital, Nongoitrous, 2 0.52 3 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 6833 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 umls:C1835887 Diabetes Mellitus, Transient Neonatal, 2 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 10682 EBP emopamil binding protein (sterol isomerase) umls:C2931843 Chondrodysplasia punctata 2, X-linked dominant 0.52 5 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C1856439 Glaucoma 3, Primary Congenital, A 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 79152 FA2H fatty acid 2-hydroxylase umls:C1823105 SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE 0.52 3 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 26154 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 umls:C0598226 Harlequin type ichthyosis 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 85300 ATCAY ataxia, cerebellar, Cayman type umls:C1832585 Cerebellar Ataxia, Cayman Type 0.52 1 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 347733 TUBB2B tubulin, beta 2B class IIb umls:C3552236 POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC 0.52 1 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 60506 NYX nyctalopin umls:C3495587 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 0.52 2 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 79147 FKRP fukutin related protein umls:C1847759 Muscular Dystrophy, Congenital, 1C 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 8022 LHX3 LIM homeobox 3 umls:C3489787 Winkelman Bethge Pfeiffer syndrome 0.52 2 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 51422 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit umls:C1849813 Glycogen Storage Disease of Heart, Lethal Congenital 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 4646 MYO6 myosin VI umls:C2931767 Deafness, autosomal dominant nonsyndromic sensorineural 22 0.52 0 Biomarker, GeneticVariation CTD_human, MGD, UNIPROT 7840 ALMS1 Alstrom syndrome 1 umls:C0268425 Alstrom Syndrome 0.519688186341783 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD 1836 SLC26A2 solute carrier family 26 (anion exchanger), member 2 umls:C0220726 Diastrophic dysplasia 0.519639155383185 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 5077 PAX3 paired box 3 umls:C1847800 Waardenburg Syndrome Type 1 0.519355650813091 33 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 7852 CXCR4 chemokine (C-X-C motif) receptor 4 umls:C0472817 WHIM syndrome 0.519355650813091 33 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 2737 GLI3 GLI family zinc finger 3 umls:C0265220 Pallister-Hall Syndrome 0.519092213135482 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN, MGD 2629 GBA glucosidase, beta, acid umls:C0017205 Gaucher Disease 0.518394239617667 153 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 4359 MPZ myelin protein zero umls:C0011195 dejerine-sottas disease 0.518221632532716 29 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 1277 COL1A1 collagen, type I, alpha 1 umls:C0023931 osteogenesis imperfecta tarda 0.517938127962623 28 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2588 GALNS galactosamine (N-acetyl)-6-sulfatase umls:C0086651 Mucopolysaccharidosis, MPS-IV-A 0.517938127962623 34 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 6299 SALL1 spalt-like transcription factor 1 umls:C0265246 Townes-Brocks syndrome 0.517938127962623 28 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 54903 MKS1 Meckel syndrome, type 1 umls:C3714506 Meckel syndrome type 1 0.517752685309725 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD 5589 PRKCSH protein kinase C substrate 80K-H umls:C0158683 Polycystic liver disease 0.517703654351127 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD 324 APC adenomatous polyposis coli umls:C2239176 Carcinoma, Hepatocellular 0.517420149781034 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD 4000 LMNA lamin A/C umls:C0410190 Benign scapuloperoneal muscular dystrophy with cardiomyopathy 0.517371118822435 26 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 3931 LCAT lecithin-cholesterol acyltransferase umls:C0342895 Fish-eye disease 0.51713664521094 17 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 1736 DKC1 dyskeratosis congenita 1, dyskerin umls:C1148551 DYSKERATOSIS CONGENITA, X-LINKED 0.517087614252342 31 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2324 FLT4 fms-related tyrosine kinase 4 umls:C1704423 Milroy's Disease 0.517087614252342 25 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4669 NAGLU N-acetylglucosaminidase, alpha umls:C0086648 Mucopolysaccharidosis Type IIIB 0.516520605112154 28 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4359 MPZ myelin protein zero umls:C0270912 Charcot-Marie-Tooth disease, type IB 0.516237100542061 22 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 249 ALPL alkaline phosphatase, liver/bone/kidney umls:C0268412 Hypophosphatasia, Infantile 0.515719122360471 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD 4647 MYO7A myosin VIIA umls:C1568247 USHER SYNDROME, TYPE I 0.515670091401873 20 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2778 GNAS GNAS complex locus umls:C0033835 Pseudopseudohypoparathyroidism 0.515103082261686 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 3159 HMGA1 high mobility group AT-hook 1 umls:C0011860 Diabetes Mellitus, Type 2 0.514585104080097 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, MGD 2629 GBA glucosidase, beta, acid umls:C1961835 GAUCHER DISEASE, TYPE I 0.514536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 1285 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) umls:C1567744 ALPORT SYNDROME, AUTOSOMAL RECESSIVE 0.514536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 1282 COL4A1 collagen, type IV, alpha 1 umls:C1867983 PORENCEPHALY 1 0.514252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4352 MPL MPL proto-oncogene, thrombopoietin receptor umls:C1327915 Congenital amegakaryocytic thrombocytopenia 0.514252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 4436 MSH2 mutS homolog 2 umls:C0009405 Colorectal Neoplasms, Hereditary Nonpolyposis 0.514024282867603 53 AlteredExpression, Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, LHGDN 100 ADA adenosine deaminase umls:C1863236 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE D... 0.513969063981311 23 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 5251 PHEX phosphate regulating endopeptidase homolog, X-linked umls:C0733682 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 0.513969063981311 20 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 80144 FRAS1 Fraser extracellular matrix complex subunit 1 umls:C0265233 Fraser Syndrome 0.513969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 9445 ITM2B integral membrane protein 2B umls:C1861735 Dementia, familial Danish 0.513969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 5897 RAG2 recombination activating gene 2 umls:C1801959 Histiocytic medullary reticulosis 0.513685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4763 NF1 neurofibromin 1 umls:C0349639 Leukemia, Myelomonocytic, Juvenile 0.513685559411218 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 1286 COL4A4 collagen, type IV, alpha 4 umls:C1567744 ALPORT SYNDROME, AUTOSOMAL RECESSIVE 0.51311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 57167 SALL4 spalt-like transcription factor 4 umls:C1623209 Duane-radial ray syndrome 0.51311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4810 NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) umls:C0796085 Nance-Horan syndrome 0.51311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 11231 SEC63 SEC63 homolog (S. cerevisiae) umls:C0158683 Polycystic liver disease 0.51311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 7305 TYROBP TYRO protein tyrosine kinase binding protein umls:C1857316 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 0.51311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 4000 LMNA lamin A/C umls:C1449563 Primary idiopathic dilated cardiomyopathy 0.512884076659535 3 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD, UNIPROT 4864 NPC1 Niemann-Pick disease, type C1 umls:C3179455 NIEMANN-PICK DISEASE, TYPE C1 0.512835045700937 26 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 26580 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) umls:C1720863 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 0.512835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 26503 SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 umls:C1096903 Salla disease 0.512835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 545 ATR ATR serine/threonine kinase umls:C0265202 Seckel syndrome 1 0.512835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 9445 ITM2B integral membrane protein 2B umls:C1867773 Dementia, familial British 0.512835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 10804 GJB6 gap junction protein, beta 6, 30kDa umls:C0162361 clouston syndrome 0.512551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 1811 SLC26A3 solute carrier family 26 (anion exchanger), member 3 umls:C0267662 Congenital chloride diarrhea 0.512551541130843 11 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 umls:C1876187 Tumoral Calcinosis, Hyperphosphatemic, Familial 0.512551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 6712 SPTBN2 spectrin, beta, non-erythrocytic 2 umls:C0752123 SPINOCEREBELLAR ATAXIA 5 0.512268036560749 9 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 6223 RPS19 ribosomal protein S19 umls:C2676137 Diamond-Blackfan Anemia 1 0.512268036560749 15 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 11146 GLMN glomulin, FKBP associated protein umls:C1841984 Glomus vagale tumors 0.512268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 9380 GRHPR glyoxylate reductase/hydroxypyruvate reductase umls:C0268165 Primary hyperoxaluria type 2 0.512268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 4000 LMNA lamin A/C umls:C1720860 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 0.511984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4306 NR3C2 nuclear receptor subfamily 3, group C, member 2 umls:C1449842 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT 0.511984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 7273 TTN titin umls:C1838244 TIBIAL MUSCULAR DYSTROPHY, TARDIVE 0.511984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 80781 COL18A1 collagen, type XVIII, alpha 1 umls:C1849409 Knobloch syndrome 0.511984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 7253 TSHR thyroid stimulating hormone receptor umls:C3493776 Hypothyroidism, Congenital, Nongoitrous, 1 0.511701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 3425 IDUA iduronidase, alpha-L- umls:C0026708 Mucopolysaccharidosis V 0.511701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 139285 AMER1 APC membrane recruitment protein 1 umls:C0432268 Osteopathia striata cranial sclerosis 0.511701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 9990 SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 umls:C0795950 Corpus callosum agenesis neuronopathy 0.511701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 3868 KRT16 keratin 16, type I umls:C1706595 PACHYONYCHIA CONGENITA 1 0.511417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 3425 IDUA iduronidase, alpha-L- umls:C0086431 Hurler-Scheie syndrome 0.511417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C0403445 Fechtner syndrome 0.511417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C0398641 Epstein syndrome 0.511417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 3339 HSPG2 heparan sulfate proteoglycan 2 umls:C0036391 Schwartz-Jampel Syndrome 0.511417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 26503 SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 umls:C1096902 INFANTILE SIALIC ACID STORAGE DISEASE 0.511417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 1301 COL11A1 collagen, type XI, alpha 1 umls:C0265235 Marshall syndrome 0.511417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 4204 MECP2 methyl CpG binding protein 2 umls:C1846058 Lubs X-linked mental retardation syndrome 0.511417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 4868 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) umls:C0403399 Finnish congenital nephrotic syndrome 0.511134018280375 11 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2316 FLNA filamin A, alpha umls:C0025237 Melnick-Needles syndrome 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 3242 HPD 4-hydroxyphenylpyruvate dioxygenase umls:C0268623 Tyrosinemia type III 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2074 ERCC6 excision repair cross-complementation group 6 umls:C0751038 COCKAYNE SYNDROME B 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 1352 COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor umls:C0268237 Cytochrome-c Oxidase Deficiency 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 1634 DCN decorin umls:C1864738 Corneal Dystrophy, Congenital Stromal 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 25861 DFNB31 deafness, autosomal recessive 31 umls:C1568249 USHER SYNDROME, TYPE IID 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 6785 ELOVL4 ELOVL fatty acid elongase 4 umls:C1838644 Stargardt disease 3 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 57338 JPH3 junctophilin 3 umls:C1847987 Huntington Disease-Like 2 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 10397 NDRG1 N-myc downstream regulated 1 umls:C1832334 Neuropathy, hereditary motor and sensory, LOM type 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 5309 PITX3 paired-like homeodomain 3 umls:C1862839 Anterior segment mesenchymal dysgenesis 0.511134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 2629 GBA glucosidase, beta, acid umls:C0268250 Acute neuronopathic Gaucher's disease 0.510850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2720 GLB1 galactosidase, beta 1 umls:C0268272 GM1-GANGLIOSIDOSIS, TYPE II 0.510850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 1491 CTH cystathionine gamma-lyase umls:C0220993 Cystathioninuria 0.510850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 54101 RIPK4 receptor-interacting serine-threonine kinase 4 umls:C1849718 Popliteal Pterygium Syndrome, Lethal Type 0.510850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 9896 FIG4 FIG4 phosphoinositide 5-phosphatase umls:C1857663 Yunis Varon syndrome 0.510850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 9742 IFT140 intraflagellar transport 140 umls:C1849437 Mainzer-Saldino Disease 0.510850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 64093 SMOC1 SPARC related modular calcium binding 1 umls:C0599973 Anophthalmos with limb anomalies 0.510850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 4256 MGP matrix Gla protein umls:C1855607 Keutel syndrome 0.510850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 165918 RNF168 ring finger protein 168, E3 ubiquitin protein ligase umls:C2677792 Riddle Syndrome 0.510850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 umls:C1720862 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 0.510567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 9247 GCM2 glial cells missing homolog 2 (Drosophila) umls:C1832648 Hypoparathyroidism familial isolated 0.510567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 10491 CRTAP cartilage associated protein umls:C1853162 Osteogenesis Imperfecta Type VII 0.510567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 3861 KRT14 keratin 14, type I umls:C0079295 EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 2629 GBA glucosidase, beta, acid umls:C0268251 GAUCHER DISEASE, TYPE III 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C1720861 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 5311 PKD2 polycystic kidney disease 2 (autosomal dominant) umls:C2751306 POLYCYSTIC KIDNEY DISEASE 2 0.510567009140187 8 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C1846545 CASPASE 8 DEFICIENCY 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 89910 UBE3B ubiquitin protein ligase E3B umls:C3808692 BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 64072 CDH23 cadherin-related 23 umls:C1832845 Usher Syndrome, Type ID 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 249 ALPL alkaline phosphatase, liver/bone/kidney umls:C0220743 Hypophosphatasia, Childhood 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 2176 FANCC Fanconi anemia, complementation group C umls:C3468041 FANCONI ANEMIA, COMPLEMENTATION GROUP C 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 2317 FLNB filamin B, beta umls:C1848934 Spondylocarpotarsal synostosis 0.510567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 23169 SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 umls:C0432194 Schneckenbecken dysplasia 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 7068 THRB thyroid hormone receptor, beta umls:C3489796 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 0.510567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 1644 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) umls:C1291564 Deficiency of aromatic-L-amino-acid decarboxylase 0.510283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C1850674 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 7051 TGM1 transglutaminase 1 umls:C3536797 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 0.510283504570094 8 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C1449843 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 5663 PSEN1 presenilin 1 umls:C1843013 Alzheimer disease, familial, type 3 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 3914 LAMB3 laminin, beta 3 umls:C0079683 Epidermolysis bullosa letalis 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 65217 PCDH15 protocadherin-related 15 umls:C1865885 Usher Syndrome, Type IF 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, MGD, UNIPROT 26090 ABHD12 abhydrolase domain containing 12 umls:C2675204 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 1147 CHUK conserved helix-loop-helix ubiquitous kinase umls:C3150891 COCOON SYNDROME 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 64421 DCLRE1C DNA cross-link repair 1C umls:C1865370 Severe combined immunodeficiency with sensitivity to ionizing radiation 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 10117 ENAM enamelin umls:C0399368 Amelogenesis Imperfecta, Type IB 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 167691 LCA5 Leber congenital amaurosis 5 umls:C1858301 Amaurosis congenita of Leber, type 5 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 64327 LMBR1 limb development membrane protein 1 umls:C0265559 Acheiropodia 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 4128 MAOA monoamine oxidase A umls:C0796275 Brunner Syndrome 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 4724 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) umls:C1838979 Mitochondrial complex I deficiency 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 4726 NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) umls:C1838979 Mitochondrial complex I deficiency 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 91252 SLC39A13 solute carrier family 39 (zinc transporter), member 13 umls:C2676510 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 7148 TNXB tenascin XB umls:C1848029 Ehlers-Danlos syndrome caused by tenascin-X deficiency 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 9321 TRIP11 thyroid hormone receptor interactor 11 umls:C0265273 Achondrogenesis type 1A 0.510283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, MGD 1406 CRX cone-rod homeobox umls:C3151192 LEBER CONGENITAL AMAUROSIS 7 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 55806 HR hair growth associated umls:C1859877 ALOPECIA UNIVERSALIS CONGENITA 0.51 3 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 3717 JAK2 Janus kinase 2 umls:C3281125 THROMBOCYTHEMIA 3 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 23562 CLDN14 claudin 14 umls:C3279660 DEAFNESS, AUTOSOMAL RECESSIVE 29 0.51 2 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C1861195 Glanzmann Thrombasthenia, Autosomal Dominant 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 3674 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) umls:C1861195 Glanzmann Thrombasthenia, Autosomal Dominant 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 3075 CFH complement factor H umls:C2749604 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 5345 SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 umls:C2752081 ALPHA-2-PLASMIN INHIBITOR DEFICIENCY 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 646960 PRSS56 protease, serine, 56 umls:C3150757 MICROPHTHALMIA, ISOLATED 6 0.51 3 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C2607929 CARNEY COMPLEX, TYPE 1 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 3852 KRT5 keratin 5, type II umls:C0079295 EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 1908 EDN3 endothelin 3 umls:C3150975 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C2749942 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 1910 EDNRB endothelin receptor type B umls:C1838564 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 324 APC adenomatous polyposis coli umls:C0162832 Genes, APC 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 1969 EPHA2 EPH receptor A2 umls:C1861825 Cataract, posterior polar, 1 0.51 2 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 4284 MIP major intrinsic protein of lens fiber umls:C3809001 CATARACT 15, MULTIPLE TYPES 0.51 5 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 2664 GDI1 GDP dissociation inhibitor 1 umls:C1415038 GDP DISSOCIATION INHIBITOR 1 0.51 2 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C0340978 May-Hegglin anomaly 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 5158 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta umls:C3151107 RETINITIS PIGMENTOSA 40 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 8200 GDF5 growth differentiation factor 5 umls:C3554446 BRACHYDACTYLY, TYPE A1, C 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 4436 MSH2 mutS homolog 2 umls:C2936783 Colorectal cancer, hereditary nonpolyposis, type 1 0.51 30 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 2743 GLRB glycine receptor, beta umls:C3553291 HYPEREKPLEXIA 2 0.51 2 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 1453 CSNK1D casein kinase 1, delta umls:C3808874 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 6338 SCNN1B sodium channel, non voltage gated 1 beta subunit umls:C1449843 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 3982 LIM2 lens intrinsic membrane protein 2, 19kDa umls:C3809004 CATARACT 19 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 182 JAG1 jagged 1 umls:C1956125 ALAGILLE SYNDROME 1 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 23418 CRB1 crumbs family member 1, photoreceptor morphogenesis associated umls:C3151202 LEBER CONGENITAL AMAUROSIS 8 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 23435 TARDBP TAR DNA binding protein umls:C2677565 AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 0.51 9 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 93 ACVR2B activin A receptor, type IIB umls:C3151057 HETEROTAXY, VISCERAL, 4, AUTOSOMAL 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 1605 DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) umls:C3151184 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 3814 KISS1 KiSS-1 metastasis-suppressor umls:C3541462 HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 6011 GRK1 G protein-coupled receptor kinase 1 umls:C3150678 OGUCHI DISEASE 2 0.51 2 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 6121 RPE65 retinal pigment epithelium-specific protein 65kDa umls:C3151086 Retinitis Pigmentosa 20 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 6442 SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) umls:C1842550 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D 0.51 6 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 50937 CDON cell adhesion associated, oncogene regulated umls:C3280215 HOLOPROSENCEPHALY 11 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 55130 ARMC4 armadillo repeat containing 4 umls:C3809548 CILIARY DYSKINESIA, PRIMARY, 23 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 1954 MEGF8 multiple EGF-like-domains 8 umls:C3554247 CARPENTER SYNDROME 2 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 352909 DNAAF3 dynein, axonemal, assembly factor 3 umls:C1847554 Primary ciliary dyskinesia, 2 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 23345 SYNE1 spectrin repeat containing, nuclear envelope 1 umls:C2751807 Emery-Dreifuss Muscular Dystrophy 4 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 5194 PEX13 peroxisomal biogenesis factor 13 umls:C3554001 PEROXISOME BIOGENESIS DISORDER 11B 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 84634 KISS1R KISS1 receptor umls:C3553841 HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 84343 HPS3 Hermansky-Pudlak syndrome 3 umls:C1423606 HPS3 GENE 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 65266 WNK4 WNK lysine deficient protein kinase 4 umls:C1840390 Pseudohypoaldosteronism, Type IIb 0.51 3 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 57096 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 umls:C1854260 Leber Congenital Amaurosis 6 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 26277 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 umls:C3151445 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 63925 ZNF335 zinc finger protein 335 umls:C3554499 MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 51778 MYOZ2 myozenin 2 umls:C3151204 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 10243 GPHN gephyrin umls:C1854990 Molybdenum Cofactor Deficiency, Complementation Group C 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 57539 WDR35 WD repeat domain 35 umls:C3279792 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 2055 CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) umls:C1838570 CEROID LIPOFUSCINOSIS, NEURONAL, 8 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 11280 SCN11A sodium channel, voltage gated, type XI alpha subunit umls:C3809882 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII 0.51 0 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 11234 HPS5 Hermansky-Pudlak syndrome 5 umls:C1424692 HPS5 GENE 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 9152 SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 umls:C3553288 HYPEREKPLEXIA 3 0.51 1 Biomarker, GeneticVariation CLINVAR, MGD, UNIPROT 977 CD151 CD151 molecule (Raph blood group) umls:C1836823 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 55835 CENPJ centromere protein J umls:C1826553 PERICENTRIN 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 80184 CEP290 centrosomal protein 290kDa umls:C1857821 Leber Congenital Amaurosis 10 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 26047 CNTNAP2 contactin associated protein-like 2 umls:C1864887 Cortical Dysplasia-Focal Epilepsy Syndrome 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 1302 COL11A2 collagen, type XI, alpha 2 umls:C1861481 Stickler syndrome, type 3 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 1411 CRYBA1 crystallin, beta A1 umls:C1833229 Cataract, Congenital Zonular, with Sutural Opacities 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 1415 CRYBB2 crystallin, beta B2 umls:C1832175 Cataract, Congenital, Cerulean Type, 2 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 25861 DFNB31 deafness, autosomal recessive 31 umls:C1846839 Deafness, Autosomal Recessive 31 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 50846 DHH desert hedgehog umls:C2751325 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 81624 DIAPH3 diaphanous-related formin 3 umls:C1836743 Auditory Neuropathy, Autosomal Dominant, 1 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 8291 DYSF dysferlin umls:C1847532 Myopathy, Distal, with Anterior Tibial Onset 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 2035 EPB41 erythrocyte membrane protein band 4.1 umls:C2678497 Elliptocytosis 1 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 8456 FOXN1 forkhead box N1 umls:C1866426 T-cell immunodeficiency, congenital alopecia and nail dystrophy 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 8200 GDF5 growth differentiation factor 5 umls:C2930970 Acromesomelic dysplasia 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 84662 GLIS2 GLIS family zinc finger 2 umls:C1969092 Nephronophthisis 7 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 169792 GLIS3 GLIS family zinc finger 3 umls:C1857775 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 3166 HMX1 H6 family homeobox 1 umls:C2677500 Oculoauricular Syndrome 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 3198 HOXA1 homeobox A1 umls:C1832215 Athabaskan brainstem dysgenesis 0.51 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 3257 HPS1 Hermansky-Pudlak syndrome 1 umls:C2931875 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 55806 HR hair growth associated umls:C1859592 Atrichia with Papular Lesions 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 3679 ITGA7 integrin, alpha 7 umls:C2750786 Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 3728 JUP junction plakoglobin umls:C1832600 Naxos disease 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 3909 LAMA3 laminin, alpha 3 umls:C0268374 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 3918 LAMC2 laminin, gamma 2 umls:C0268374 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 0.51 1 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 153562 MARVELD2 MARVEL domain containing 2 umls:C1857811 Deafness, Autosomal Recessive 49 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 9313 MMP20 matrix metallopeptidase 20 umls:C2675858 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 53904 MYO3A myosin IIIA umls:C1846784 Deafness, Autosomal Recessive 30 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 4644 MYO5A myosin VA (heavy chain 12, myoxin) umls:C1859194 Griscelli syndrome type 1 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 4703 NEB nebulin umls:C1850569 Nemaline Myopathy 2 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 4983 OPHN1 oligophrenin 1 umls:C1845366 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 146183 OTOA otoancorin umls:C1846896 Deafness, Autosomal Recessive 22 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 64175 P3H1 prolyl 3-hydroxylase 1 umls:C1970458 Osteogenesis imperfecta, type VIII 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 11235 PDCD10 programmed cell death 10 umls:C1864040 Cerebral Cavernous Malformations 3 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 5443 POMC proopiomelanocortin umls:C1857854 Proopiomelanocortin Deficiency 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C1864846 Pigmented Nodular Adrenocortical Disease, Primary, 1 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 8842 PROM1 prominin 1 umls:C2677516 Retinitis Pigmentosa 41 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 284119 PTRF polymerase I and transcript release factor umls:C2750069 Lipodystrophy, Congenital Generalized, Type 4 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 6103 RPGR retinitis pigmentosa GTPase regulator umls:C1844776 Cone-Rod Dystrophy, X-Linked, Type 1 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 81846 SBF2 SET binding factor 2 umls:C1858278 Charcot-Marie-Tooth disease, Type 4B2 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C1858672 Generalized Epilepsy With Febrile Seizures Plus, Type 1 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 6598 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 umls:C1836327 Rhabdoid Tumor Predisposition Syndrome 1 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 6591 SNAI2 snail family zinc finger 2 umls:C1837203 Waardenburg Syndrome, Type 2D 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C1854182 Parkinson Disease 4, Autosomal Dominant Lewy Body 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 6708 SPTA1 spectrin, alpha, erythrocytic 1 umls:C2678338 Spherocytosis, Type 3 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 161497 STRC stereocilin umls:C1863561 Deafness, Autosomal Recessive 16 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 8676 STX11 syntaxin 11 umls:C1863728 Hemophagocytic lymphohistiocytosis, familial, 4 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 50511 SYCP3 synaptonemal complex protein 3 umls:C0232981 Arrest of spermatogenesis 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 8557 TCAP titin-cap umls:C1866008 Muscular Dystrophy, Limb-Girdle, Type 2G 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 201294 UNC13D unc-13 homolog D (C. elegans) umls:C1837174 Hemophagocytic lymphohistiocytosis, familial, 3 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 10083 USH1C Usher syndrome 1C (autosomal recessive, severe) umls:C1865870 Deafness, Autosomal Recessive 18 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 6935 ZEB1 zinc finger E-box binding homeobox 1 umls:C1836724 Corneal Dystrophy, Posterior Polymorphous, 3 0.51 0 Biomarker, GeneticVariation CLINVAR, CTD_human, MGD 7248 TSC1 tuberous sclerosis 1 umls:C0041341 Tuberous Sclerosis 0.509539194854142 236 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 6010 RHO rhodopsin umls:C0035334 Retinitis Pigmentosa 0.509097005474163 137 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5621 PRNP prion protein umls:C0162534 Prion Diseases 0.508922666217997 424 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 3043 HBB hemoglobin, beta umls:C0002895 Anemia, Sickle Cell 0.503395611138826 128 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 3039 HBA1 hemoglobin, alpha 1 umls:C0002312 alpha-Thalassemia 0.502972511576611 206 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C0030421 Paraganglioma 0.500247019608456 115 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0023976 Long QT Syndrome 0.499445703297403 135 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5310 PKD1 polycystic kidney disease 1 (autosomal dominant) umls:C0085413 Polycystic Kidney, Autosomal Dominant 0.495020261101911 293 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 155 ADRB3 adrenoceptor beta 3 umls:C0028754 Obesity 0.494664897598149 126 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 338 APOB apolipoprotein B umls:C0020445 Hyperlipoproteinemia Type II 0.493217499928972 133 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0020538 Hypertension 0.49 513 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0020538 Hypertension 0.49 537 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 348 APOE apolipoprotein E umls:C0002395 Alzheimer Disease 0.49 1132 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN, RGD 64127 NOD2 nucleotide-binding oligomerization domain containing 2 umls:C0010346 Crohn Disease 0.49 617 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 7124 TNF tumor necrosis factor umls:C0003873 Arthritis, Rheumatoid 0.49 485 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, MGD 348 APOE apolipoprotein E umls:C0027051 Myocardial Infarction 0.489729463642102 55 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0221757 alpha 1-Antitrypsin Deficiency 0.486158361205384 117 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 umls:C0011860 Diabetes Mellitus, Type 2 0.485280282718944 56 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 1277 COL1A1 collagen, type I, alpha 1 umls:C0029434 Osteogenesis Imperfecta 0.485153811595119 125 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 154 ADRB2 adrenoceptor beta 2, surface umls:C0028754 Obesity 0.484742237644871 79 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 1589 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 umls:C2936858 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 0.482910345965187 155 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 7352 UCP3 uncoupling protein 3 (mitochondrial, proton carrier) umls:C0028754 Obesity 0.482550141840888 57 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 6833 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 umls:C0011860 Diabetes Mellitus, Type 2 0.481740416893566 55 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 10644 IGF2BP2 insulin-like growth factor 2 mRNA binding protein 2 umls:C0011860 Diabetes Mellitus, Type 2 0.481056678233653 86 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.4807214479445 178 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0001418 Adenocarcinoma 0.477928964229857 346 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, CTD_mouse, GAD, LHGDN 27185 DISC1 disrupted in schizophrenia 1 umls:C0036341 Schizophrenia 0.47791607682526 185 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 2395 FXN frataxin umls:C0016719 Friedreich Ataxia 0.475141498360913 131 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN 3040 HBA2 hemoglobin, alpha 2 umls:C0002312 alpha-Thalassemia 0.473183657891145 192 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C0017551 Gilbert Disease 0.472812924540507 50 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 5979 RET ret proto-oncogene umls:C0238462 Thyroid cancer, medullary 0.47 370 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0023467 Leukemia, Myeloid, Acute 0.469939865644671 116 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 2778 GNAS GNAS complex locus umls:C0033806 Pseudohypoparathyroidism 0.468632551504974 68 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 56729 RETN resistin umls:C0011860 Diabetes Mellitus, Type 2 0.467682021728057 54 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 4000 LMNA lamin A/C umls:C0007193 Cardiomyopathy, Dilated 0.466069352117916 92 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 4771 NF2 neurofibromin 2 (merlin) umls:C0025286 Meningioma 0.465884398002379 81 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN 6103 RPGR retinitis pigmentosa GTPase regulator umls:C0035334 Retinitis Pigmentosa 0.465669991283368 60 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 672 BRCA1 breast cancer 1, early onset umls:C0677776 Hereditary Breast and Ovarian Cancer Syndrome 0.465566895738359 196 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4049 LTA lymphotoxin alpha umls:C0027051 Myocardial Infarction 0.463938534184612 29 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 3596 IL13 interleukin 13 umls:C0004096 Asthma 0.458360397579841 224 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3043 HBB hemoglobin, beta umls:C0002312 alpha-Thalassemia 0.456038267461732 38 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5663 PSEN1 presenilin 1 umls:C0002395 Alzheimer Disease 0.454664897598149 177 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 4760 NEUROD1 neuronal differentiation 1 umls:C0011860 Diabetes Mellitus, Type 2 0.452303677091916 28 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 554 AVPR2 arginine vasopressin receptor 2 umls:C0162283 Diabetes Insipidus, Nephrogenic 0.451463526167344 66 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 umls:C0028754 Obesity 0.450944082373675 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 3952 LEP leptin umls:C0011860 Diabetes Mellitus, Type 2 0.450563004423745 60 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, MGD, RGD 3753 KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 umls:C0023976 Long QT Syndrome 0.449477528564609 45 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C0025202 Melanoma 0.448888890502295 137 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6583 SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 umls:C0003873 Arthritis, Rheumatoid 0.448002566119273 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0221013 Mastocytosis, Systemic 0.447864858954468 75 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0919267 Ovarian Neoplasms 0.447416467161321 54 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN 185 AGTR1 angiotensin II receptor, type 1 umls:C0020538 Hypertension 0.447384475453485 194 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C2239176 Carcinoma, Hepatocellular 0.447210957615939 52 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5972 REN renin umls:C0020538 Hypertension 0.445135462388376 380 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3990 LIPC lipase, hepatic umls:C0011860 Diabetes Mellitus, Type 2 0.444706981831615 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 6927 HNF1A HNF1 homeobox A umls:C0011854 Diabetes Mellitus, Type 1 0.444374446302923 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 3565 IL4 interleukin 4 umls:C0004096 Asthma 0.443421547563217 192 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2815 GP9 glycoprotein IX (platelet) umls:C0005129 Bernard-Soulier Syndrome 0.442946075830329 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, UNIPROT 3630 INS insulin umls:C0011860 Diabetes Mellitus, Type 2 0.442612885323647 2252 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, MGD 4000 LMNA lamin A/C umls:C0410189 Muscular Dystrophy, Emery-Dreifuss 0.44242924116409 64 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 2312 FLG filaggrin umls:C0079584 Ichthyosis Vulgaris 0.442145248056636 55 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 6654 SOS1 son of sevenless homolog 1 (Drosophila) umls:C0028326 Noonan Syndrome 0.441930841337625 34 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 9992 KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 umls:C0023976 Long QT Syndrome 0.441675812296285 39 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 348 APOE apolipoprotein E umls:C0020479 Hyperlipoproteinemia Type III 0.441196183891799 67 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 64127 NOD2 nucleotide-binding oligomerization domain containing 2 umls:C1861303 Synovitis granulomatous with uveitis and cranial neuropathies 0.441077400104128 58 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0030567 Parkinson Disease 0.441056678233653 160 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN, RGD 2956 MSH6 mutS homolog 6 umls:C0009405 Colorectal Neoplasms, Hereditary Nonpolyposis 0.440943915933045 17 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, LHGDN 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C0010324 Crigler-Najjar Syndrome 0.440551013286269 31 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, UNIPROT 3630 INS insulin umls:C0011854 Diabetes Mellitus, Type 1 0.440090308258917 850 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, MGD 5728 PTEN phosphatase and tensin homolog umls:C0025202 Melanoma 0.439085114455193 69 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0026764 Multiple Myeloma 0.438596100339718 68 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 8517 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma umls:C0021171 Incontinentia Pigmenti 0.438176672612685 50 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 675 BRCA2 breast cancer 2, early onset umls:C0677776 Hereditary Breast and Ovarian Cancer Syndrome 0.438066952439273 99 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C1959620 Dihydropyrimidine Dehydrogenase Deficiency 0.438056911750294 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 4137 MAPT microtubule-associated protein tau umls:C0002395 Alzheimer Disease 0.437135245920984 118 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN, MGD 10984 KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) umls:C0004903 Beckwith-Wiedemann Syndrome 0.436759149762216 42 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C1708349 GASTRIC CANCER, HEREDITARY DIFFUSE 0.436649429588805 96 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2099 ESR1 estrogen receptor 1 umls:C0027051 Myocardial Infarction 0.436211230439794 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 7249 TSC2 tuberous sclerosis 2 umls:C0751674 Lymphangioleiomyomatosis 0.436072868296998 32 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, UNIPROT 1028 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) umls:C0004903 Beckwith-Wiedemann Syndrome 0.435428519110089 63 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0020538 Hypertension 0.434800554195952 148 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 10133 OPTN optineurin umls:C0339573 Glaucoma, Primary Open Angle 0.434791268603469 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C0406810 Carney Complex 0.434664897598149 87 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5959 RDH5 retinol dehydrogenase 5 (11-cis/9-cis) umls:C0311338 Fundus Albipunctatus 0.434605825950572 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 2487 FRZB frizzled-related protein umls:C0029408 Osteoarthritis 0.434334146077324 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C2239176 Carcinoma, Hepatocellular 0.43389172393459 49 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C2239176 Carcinoma, Hepatocellular 0.433747558582012 50 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, MGD, RGD 675 BRCA2 breast cancer 2, early onset umls:C0919267 Ovarian Neoplasms 0.432835045700937 116 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3043 HBB hemoglobin, beta umls:C0019045 Hemoglobinopathies 0.432691046788989 38 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 2218 FKTN fukutin umls:C0410174 fukuyama muscular dystrophy 0.432474201084121 44 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0028326 Noonan Syndrome 0.432222588103358 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0018784 Hearing Loss, Sensorineural 0.432023436627243 166 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0004238 Atrial Fibrillation 0.431675645855655 10 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, LHGDN 11277 TREX1 three prime repair exonuclease 1 umls:C0024141 Lupus Erythematosus, Systemic 0.431331285630118 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, UNIPROT 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0038356 Stomach Neoplasms 0.431314634798209 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0007193 Cardiomyopathy, Dilated 0.431293590831005 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0011881 Diabetic Nephropathies 0.430947346479096 146 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7157 TP53 tumor protein p53 umls:C2931822 Nasopharyngeal carcinoma 0.430744864575436 66 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 672 BRCA1 breast cancer 1, early onset umls:C0006142 Malignant neoplasm breast 0.43 2210 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 675 BRCA2 breast cancer 2, early onset umls:C0006142 Malignant neoplasm breast 0.43 1287 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0024796 Marfan Syndrome 0.429856489625412 27 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 2120 ETV6 ets variant 6 umls:C0023467 Leukemia, Myeloid, Acute 0.429552918162834 45 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.42944906752133 206 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 5687 PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 umls:C0027051 Myocardial Infarction 0.429260027881751 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5663 PSEN1 presenilin 1 umls:C0338451 Frontotemporal Dementia 0.429170208160194 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0036341 Schizophrenia 0.428563453653891 113 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7137 TNNI3 troponin I type 3 (cardiac) umls:C0007193 Cardiomyopathy, Dilated 0.428487509196182 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C0221055 Paramyotonia congenita of Von Eulenburg 0.428221632532716 29 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2006 ELN elastin umls:C0003499 Aortic Stenosis, Supravalvular 0.428164359378479 47 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 1756 DMD dystrophin umls:C0007193 Cardiomyopathy, Dilated 0.428135395312366 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 1291 COL6A1 collagen, type VI, alpha 1 umls:C0410179 Scleroatonic muscular dystrophy 0.427987158921221 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 3957 LGALS2 lectin, galactoside-binding, soluble, 2 umls:C0027051 Myocardial Infarction 0.427793474072685 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5498 PPOX protoporphyrinogen oxidase umls:C0162532 Porphyria, Variegate 0.427597350238292 58 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN, UNIPROT 9607 CARTPT CART prepropeptide umls:C0028754 Obesity 0.427304459957209 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 7273 TTN titin umls:C0007193 Cardiomyopathy, Dilated 0.427255917535971 28 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 583 BBS2 Bardet-Biedl syndrome 2 umls:C0752166 Bardet-Biedl Syndrome 0.427235850643487 43 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 1071 CETP cholesteryl ester transfer protein, plasma umls:C3149462 HYPERALPHALIPOPROTEINEMIA 1 0.427087614252342 27 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 7439 BEST1 bestrophin 1 umls:C0339510 Vitelliform Macular Dystrophy 0.42701027420562 60 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7276 TTR transthyretin umls:C0007286 Carpal Tunnel Syndrome 0.426775145616134 16 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, UNIPROT 55109 AGGF1 angiogenic factor with G patch and FHA domains 1 umls:C0022739 Klippel-Trenaunay-Weber Syndrome 0.426618667029351 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 4023 LPL lipoprotein lipase umls:C0020474 Hyperlipidemia, Familial Combined 0.426561393875114 25 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5697 PYY peptide YY umls:C0028754 Obesity 0.42640491528833 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 367 AR androgen receptor umls:C0268301 Reifenstein syndrome 0.426159760495339 57 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 7012 TERC telomerase RNA component umls:C0002874 Anemia, Aplastic 0.426141966148081 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 6399 TRAPPC2 trafficking protein particle complex 2 umls:C3541456 Spondyloepiphyseal Dysplasia Tarda, X-Linked 0.425953595971967 22 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C1833661 Paroxysmal Extreme Pain Disorder 0.425953595971967 21 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 51422 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit umls:C0043202 Wolff-Parkinson-White Syndrome 0.425924631905853 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, UNIPROT 7137 TNNI3 troponin I type 3 (cardiac) umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.425809430619389 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 6017 RLBP1 retinaldehyde binding protein 1 umls:C0035334 Retinitis Pigmentosa 0.425690158294358 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, UNIPROT 268 AMH anti-Mullerian hormone umls:C1849930 Persistent Mullerian duct syndrome 0.425670091401873 22 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2592 GALT galactose-1-phosphate uridylyltransferase umls:C0268151 GALACTOSEMIA 0.425592751355152 67 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1298 COL9A2 collagen, type IX, alpha 2 umls:C0158252 Intervertebral disc disease 0.425484648748976 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 26580 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) umls:C2931276 Spastic paraplegia 17 0.425435617790378 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, UNIPROT 4261 CIITA class II, major histocompatibility complex, transactivator umls:C0003873 Arthritis, Rheumatoid 0.425398411528625 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 4281 MID1 midline 1 umls:C2936904 Opitz GBBB Syndrome, X-Linked 0.42538658683178 21 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0339573 Glaucoma, Primary Open Angle 0.42538658683178 19 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 7139 TNNT2 troponin T type 2 (cardiac) umls:C0007193 Cardiomyopathy, Dilated 0.424987392437862 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 4436 MSH2 mutS homolog 2 umls:C1321489 Muir-Torre Syndrome 0.424967814082737 35 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 5428 POLG polymerase (DNA directed), gamma umls:C0751651 Mitochondrial Diseases 0.424967814082737 37 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 7139 TNNT2 troponin T type 2 (cardiac) umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.424597417314302 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0268285 Adrenal hyperplasia, congenital, type 5 0.424252568551405 24 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 5160 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 umls:C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease 0.424252568551405 27 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 1292 COL6A2 collagen, type VI, alpha 2 umls:C0410179 Scleroatonic muscular dystrophy 0.424252568551405 15 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 324 APC adenomatous polyposis coli umls:C0025149 Medulloblastoma 0.424252568551405 16 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 4795 NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 umls:C0003873 Arthritis, Rheumatoid 0.424186398223539 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0022603 Keratosis, Seborrheic 0.423940099915198 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, UNIPROT 7137 TNNI3 troponin I type 3 (cardiac) umls:C0878544 Cardiomyopathies 0.423599322190867 26 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, GAD, LHGDN 9244 CRLF1 cytokine receptor-like factor 1 umls:C1832409 Crisponi syndrome 0.423402054841124 15 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 6023 RMRP RNA component of mitochondrial RNA processing endoribonuclease umls:C0220748 Cartilage-hair hypoplasia 0.423324714794403 47 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1278 COL1A2 collagen, type I, alpha 2 umls:C0268358 Osteogenesis imperfecta, type 2A 0.42311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 5313 PKLR pyruvate kinase, liver and RBC umls:C0340968 Pyruvate Kinase Deficiency of Red Cells 0.42311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0018522 Hallermann's Syndrome 0.423089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, UNIPROT 283120 H19 H19, imprinted maternally expressed transcript (non-protein coding) umls:C0004903 Beckwith-Wiedemann Syndrome 0.422954318025968 22 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN 1890 TYMP thymidine phosphorylase umls:C0872218 Mitochondrial neurogastrointestinal encephalopathy syndrome 0.422835045700937 14 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 1355 COX15 cytochrome c oxidase assembly homolog 15 (yeast) umls:C0023264 Leigh Disease 0.422806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, UNIPROT 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C2931132 Crigler Najjar syndrome, type 2 0.422551541130843 9 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 1836 SLC26A2 solute carrier family 26 (anion exchanger), member 2 umls:C0265274 Achondrogenesis type 1B 0.422551541130843 9 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 1285 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) umls:C0241908 Hematuria, Benign Familial 0.422551541130843 9 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 1294 COL7A1 collagen, type VII, alpha 1 umls:C1275114 Epidermolysis Bullosa Pruriginosa 0.422551541130843 9 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 5395 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) umls:C0009405 Colorectal Neoplasms, Hereditary Nonpolyposis 0.422407375778265 6 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, LHGDN 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C2609268 GALLBLADDER DISEASE 1 0.422268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C2931826 Potassium aggravated myotonia 0.422268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 81 ACTN4 actinin, alpha 4 umls:C0017668 Glomerulosclerosis, Focal Segmental 0.422181799340399 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 7015 TERT telomerase reverse transcriptase umls:C1800706 Idiopathic Pulmonary Fibrosis 0.422152835274285 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0007134 Carcinoma, Renal Cell 0.4221327683818 28 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 2626 GATA4 GATA binding protein 4 umls:C0039685 Tetralogy of Fallot 0.422025320753615 11 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN, UNIPROT 6121 RPE65 retinal pigment epithelium-specific protein 65kDa umls:C0035334 Retinitis Pigmentosa 0.421869330704191 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 2642 GCGR glucagon receptor umls:C0011860 Diabetes Mellitus, Type 2 0.421770780249635 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 26580 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) umls:C1833308 Neuronopathy, Distal Hereditary Motor, Type V 0.421701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 1834 DSPP dentin sialophosphoprotein umls:C0399380 Dentin dysplasia, type II 0.421701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 29929 ALG6 ALG6, alpha-1,3-glucosyltransferase umls:C2930997 Congenital disorder of glycosylation type 1C 0.421701027420562 9 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C0259810 Hypokalemic distal renal tubular acidosis 0.42162368737384 41 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4508 ATP6 ATP synthase F0 subunit 6 umls:C0023264 Leigh Disease 0.421565759241613 24 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN, UNIPROT 4607 MYBPC3 myosin binding protein C, cardiac umls:C0007193 Cardiomyopathy, Dilated 0.421536306638139 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 9469 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 umls:C1837657 Spondyloepiphyseal dysplasia, Omani type 0.421417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 56623 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa umls:C0431399 Agenesis of Cerebellar Vermis 0.421417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.421253290605406 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 3769 KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13 umls:C1860405 Snowflake vitreoretinal degeneration 0.421134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 5979 RET ret proto-oncogene umls:C1275808 Congenital central hypoventilation syndrome 0.421134018280375 6 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2108 ETFA electron-transfer-flavoprotein, alpha polypeptide umls:C0268596 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 0.421134018280375 6 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0795998 Jackson-Weiss syndrome 0.421134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2702 GJA5 gap junction protein, alpha 5, 40kDa umls:C1838539 Atrial Standstill 0.421134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 56052 ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase umls:C2931005 Congenital disorder of glycosylation type 1K 0.421134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 57465 TBC1D24 TBC1 domain family, member 24 umls:C0917800 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE 0.421134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 6768 ST14 suppression of tumorigenicity 14 (colon carcinoma) umls:C1835851 Ichthyosis with hypotrichosis, autosomal recessive 0.421134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 26040 SETBP1 SET binding protein 1 umls:C0265227 Schinzel-Giedion syndrome 0.421134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 4728 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) umls:C0023264 Leigh Disease 0.420850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 8625 RFXANK regulatory factor X-associated ankyrin-containing protein umls:C2931418 Bare lymphocyte syndrome 2 0.420850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 10653 SPINT2 serine peptidase inhibitor, Kunitz type, 2 umls:C0267663 Diarrhea 3, Secretory Sodium, Congenital 0.420850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 7054 TH tyrosine hydroxylase umls:C2673535 Segawa syndrome, autosomal recessive 0.420850513710281 10 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 3858 KRT10 keratin 10, type I umls:C1843463 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 0.420850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 8659 ALDH4A1 aldehyde dehydrogenase 4 family, member A1 umls:C2931835 Hyperprolinemia type 2 0.420850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2109 ETFB electron-transfer-flavoprotein, beta polypeptide umls:C0268596 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 0.420850513710281 5 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 269 AMHR2 anti-Mullerian hormone receptor, type II umls:C1849930 Persistent Mullerian duct syndrome 0.420850513710281 5 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 79053 ALG8 ALG8, alpha-1,3-glucosyltransferase umls:C2931002 Congenital disorder of glycosylation type 1H 0.420850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 1798 DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) umls:C2931004 Congenital disorder of glycosylation type 1J 0.420850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C1868616 Parastremmatic dwarfism 0.420850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2778 GNAS GNAS complex locus umls:C0242292 McCune-Albright Syndrome 0.420773173663559 38 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3482 IGF2R insulin-like growth factor 2 receptor umls:C2239176 Carcinoma, Hepatocellular 0.42076427648993 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 11322 TMC6 transmembrane channel-like 6 umls:C0014522 Epidermodysplasia Verruciformis 0.420686281465218 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 8647 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 umls:C3489789 Cholestasis, progressive familial intrahepatic 2 0.420567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 627 BDNF brain-derived neurotrophic factor umls:C1275808 Congenital central hypoventilation syndrome 0.420567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2657 GDF1 growth differentiation factor 1 umls:C0039685 Tetralogy of Fallot 0.420567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 4723 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa umls:C0023264 Leigh Disease 0.420567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2121 EVC Ellis van Creveld syndrome umls:C0457013 Weyers acrofacial dysostosis 0.420567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 3887 KRT81 keratin 81, type II umls:C0546966 Monilethrix 0.420567009140187 4 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 9733 SART3 squamous cell carcinoma antigen recognized by T cells 3 umls:C1867981 Porokeratosis, disseminated superficial actinic 1 0.420567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 79087 ALG12 ALG12, alpha-1,6-mannosyltransferase umls:C2931001 Congenital disorder of glycosylation type 1G 0.420567009140187 5 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 84668 FAM126A family with sequence similarity 126, member A umls:C1864663 Leukodystrophy, Hypomyelinating, 5 0.420567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 79796 ALG9 ALG9, alpha-1,2-mannosyltransferase umls:C2931006 Congenital disorder of glycosylation type 1L 0.420567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0751335 SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL 0.420567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C1853710 Hereditary Motor And Sensory Neuropathy, Type IIC 0.420567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C2697932 Loeys-Dietz Syndrome 0.420489669093466 39 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6899 TBX1 T-box 1 umls:C1857586 Conotruncal cardiac defects 0.420283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 3426 CFI complement factor I umls:C3463916 Complement Factor I Deficiency 0.420283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 7372 UMPS uridine monophosphate synthetase umls:C0268130 Oroticaciduria 1 0.420283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 176 ACAN aggrecan umls:C3665488 Familial Osteochondritis Dissecans 0.420283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0265269 Lacrimoauriculodentodigital syndrome 0.420283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 6916 TBXAS1 thromboxane A synthase 1 (platelet) umls:C1856465 Ghosal Hematodiaphyseal Dysplasia 0.420283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C1865234 HID Syndrome 0.420283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 23636 NUP62 nucleoporin 62kDa umls:C0795996 Striatonigral degeneration infantile 0.420283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 5993 RFX5 regulatory factor X, 5 (influences HLA class II expression) umls:C2931418 Bare lymphocyte syndrome 2 0.420283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 1834 DSPP dentin sialophosphoprotein umls:C0399378 Dentinogenesis imperfecta, shields type 3 0.420283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 26040 SETBP1 SET binding protein 1 umls:C0349639 Leukemia, Myelomonocytic, Juvenile 0.420283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, UNIPROT 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C2239176 Carcinoma, Hepatocellular 0.420148236391145 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 137814 NKX2-6 NK2 homeobox 6 umls:C1857586 Conotruncal cardiac defects 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 3664 IRF6 interferon regulatory factor 6 umls:C1837213 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 4148 MATN3 matrilin 3 umls:C1837481 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 9517 SPTLC2 serine palmitoyltransferase, long chain base subunit 2 umls:C3150896 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 2255 FGF10 fibroblast growth factor 10 umls:C0265269 Lacrimoauriculodentodigital syndrome 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 50846 DHH desert hedgehog umls:C1856273 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 8842 PROM1 prominin 1 umls:C1863534 Stargardt disease 4 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 8842 PROM1 prominin 1 umls:C2675210 Cone-Rod Dystrophy 12 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 701 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B umls:C1864389 PREMATURE CHROMATID SEPARATION TRAIT 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1497 CTNS cystinosin, lysosomal cystine transporter umls:C2931013 Cystinosis, ocular nonnephropathic 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C1843323 Van Buchem disease type 2 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 5309 PITX3 paired-like homeodomain 3 umls:C1864567 Cataract, posterior polar, 4 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 55687 TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase umls:C3278664 LIVER FAILURE, INFANTILE, TRANSIENT 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 7439 BEST1 bestrophin 1 umls:C2750789 Retinitis Pigmentosa, Concentric 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 8647 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 umls:C2608083 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1727 CYB5R3 cytochrome b5 reductase 3 umls:C0268193 NADH cytochrome B5 reductase deficiency 0.42 9 Biomarker, GeneticVariation CTD_human, UNIPROT 2158 F9 coagulation factor IX umls:C2749016 Thrombophilia, X-Linked, Due To Factor Ix Defect 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 718 C3 complement component 3 umls:C1969651 Macular Degeneration, Age-Related, 9 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 3630 INS insulin umls:C1852092 Diabetes Mellitus, Insulin-Dependent, 2 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 3630 INS insulin umls:C3150617 Maturity-onset diabetes of the young, type 10 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 283 ANG angiogenin, ribonuclease, RNase A family, 5 umls:C2678468 Amyotrophic Lateral Sclerosis 9 0.42 3 Biomarker, GeneticVariation CTD_human, UNIPROT 611 OPN1SW opsin 1 (cone pigments), short-wave-sensitive umls:C1412770 TRITANOPIA 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 5956 OPN1LW opsin 1 (cone pigments), long-wave-sensitive umls:C1419325 COLORBLINDNESS, PARTIAL, PROTAN SERIES 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 2652 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive umls:C0339537 Blue cone monochromatism 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 2652 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive umls:C1415024 COLORBLINDNESS, PARTIAL, DEUTAN SERIES 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C1969056 LEOPARD syndrome, 2 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 3053 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 umls:C0398626 Heparin Cofactor II Deficiency 0.42 3 Biomarker, GeneticVariation CTD_human, UNIPROT 3875 KRT18 keratin 18, type I umls:C1861556 Cirrhosis, Familial 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 3856 KRT8 keratin 8, type II umls:C1861556 Cirrhosis, Familial 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 3643 INSR insulin receptor umls:C1864952 Hyperinsulinemic Hypoglycemia, Familial, 5 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 3643 INSR insulin receptor umls:C0342278 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 717 C2 complement component 2 umls:C3150275 COMPLEMENT COMPONENT 2 DEFICIENCY 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 5627 PROS1 protein S (alpha) umls:C3278211 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 2811 GP1BA glycoprotein Ib (platelet), alpha polypeptide umls:C3277076 BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 669 BPGM 2,3-bisphosphoglycerate mutase umls:C1412816 BISPHOSPHOGLYCERATE MUTASE 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 4306 NR3C2 nuclear receptor subfamily 3, group C, member 2 umls:C1854631 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 6855 SYP synaptophysin umls:C3275408 MENTAL RETARDATION, X-LINKED 96 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 282808 RAB40AL RAB40A, member RAS oncogene family-like umls:C1845285 Martin-Probst Deafness-Mental Retardation Syndrome 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 55997 CFC1 cripto, FRL-1, cryptic family 1 umls:C1415817 HETEROTAXY, VISCERAL, 2, AUTOSOMAL 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0751337 Scapuloperoneal muscular dystrophy 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 4626 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal umls:C1837245 Carney Complex Variant 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C3150971 LEOPARD SYNDROME 3 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 525 ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 umls:C0403554 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 0.42 3 Biomarker, GeneticVariation CTD_human, UNIPROT 2623 GATA1 GATA binding protein 1 (globin transcription factor 1) umls:C3550789 THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 5447 POR P450 (cytochrome) oxidoreductase umls:C3150099 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C3275750 ATRIOVENTRICULAR SEPTAL DEFECT 3 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 6165 RPL35A ribosomal protein L35a umls:C2675859 Diamond-Blackfan Anemia 5 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 2071 ERCC3 excision repair cross-complementation group 3 umls:C1866504 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 7490 WT1 Wilms tumor 1 umls:C3151568 NEPHROTIC SYNDROME, TYPE 4 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0265269 Lacrimoauriculodentodigital syndrome 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 2263 FGFR2 fibroblast growth factor receptor 2 umls:C1865070 Scaphocephaly, Maxillary Retrusion, And Mental Retardation 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C0270210 Hyperbilirubinemia, Transient Familial Neonatal 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C3665593 Nevus, Epidermal 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1296 COL8A2 collagen, type VIII, alpha 2 umls:C1852795 Corneal Dystrophy, Posterior Polymorphous, 2 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 4359 MPZ myelin protein zero umls:C1837552 Charcot-Marie-Tooth disease, Type 2I 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 2657 GDF1 growth differentiation factor 1 umls:C1857586 Conotruncal cardiac defects 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 7003 TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) umls:C1862382 Sveinsson Chorioretinal Atrophy 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 471 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase umls:C1837530 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 3897 L1CAM L1 cell adhesion molecule umls:C1839909 Corpus Callosum, Partial Agenesis of, X-Linked 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 3239 HOXD13 homeobox D13 umls:C1862102 Brachydactyly, Type E 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C1864987 Migraine, Familial Hemiplegic, 3 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 2200 FBN1 fibrillin 1 umls:C3541518 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C1835398 Sarcoma family syndrome of Li and Fraumeni 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C1835044 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 5256 PHKA2 phosphorylase kinase, alpha 2 (liver) umls:C1418533 phosphorylase kinase, alpha 2 (liver) 0.42 7 Biomarker, GeneticVariation CTD_human, UNIPROT 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0796003 Mental retardation-hypotonic facies syndrome, x-linked, 1 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 6125 RPL5 ribosomal protein L5 umls:C2931850 Aase Smith syndrome 2 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 5830 PEX5 peroxisomal biogenesis factor 5 umls:C3550234 PEROXISOME BIOGENESIS DISORDER 2B 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 6338 SCNN1B sodium channel, non voltage gated 1 beta subunit umls:C2749757 Bronchiectasis With Or Without Elevated Sweat Chloride 1 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1184 CLCN5 chloride channel, voltage-sensitive 5 umls:C0403720 Nephrolithiasis, X-Linked Recessive, with Renal Failure 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1482 NKX2-5 NK2 homeobox 5 umls:C3276096 ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1413 CRYBA4 crystallin, beta A4 umls:C3808012 CATARACT 23 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 5428 POLG polymerase (DNA directed), gamma umls:C3149842 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 486 FXYD2 FXYD domain containing ion transport regulator 2 umls:C1835171 Hypomagnesemia 2, renal 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 859 CAV3 caveolin 3 umls:C3495498 Cardiomyopathy, Familial Hypertrophic, 1 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 6663 SOX10 SRY (sex determining region Y)-box 10 umls:C1836727 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 6663 SOX10 SRY (sex determining region Y)-box 10 umls:C2750452 Waardenburg Syndrome, Type 4c 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 70 ACTC1 actin, alpha, cardiac muscle 1 umls:C2748552 Atrial Septal Defect 5 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C3495438 Macular Degeneration, Age-Related, 2 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 6005 RHAG Rh-associated glycoprotein umls:C1849387 Rh-Null, Regulator Type 0.42 3 Biomarker, GeneticVariation CTD_human, UNIPROT 1294 COL7A1 collagen, type VII, alpha 1 umls:C1843761 Toenail Dystrophy, Isolated 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 95 ACY1 aminoacylase 1 umls:C1835922 Aminoacylase 1 deficiency 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 4760 NEUROD1 neuronal differentiation 1 umls:C1853371 MODY, Type 6 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 2273 FHL1 four and a half LIM domains 1 umls:C2678027 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 3587 IL10RA interleukin 10 receptor, alpha umls:C2751053 Inflammatory Bowel Disease 28, Autosomal Recessive 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 775 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit umls:C2678478 Brugada Syndrome 3 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1639 DCTN1 dynactin 1 umls:C1862939 Amyotrophic lateral sclerosis 1 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 6794 STK11 serine/threonine kinase 11 umls:C1336708 Testicular Germ Cell Tumor 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1261 CNGA3 cyclic nucleotide gated channel alpha 3 umls:C1857618 Achromatopsia 2 0.42 6 Biomarker, GeneticVariation CTD_human, UNIPROT 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C1842028 Glaucoma 1, Open Angle, A 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 9719 ADAMTSL2 ADAMTS-like 2 umls:C3278147 GELEOPHYSIC DYSPLASIA 1 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 91647 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 umls:C3276276 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 64419 MTMR14 myotubularin related protein 14 umls:C1834558 Myopathy, Centronuclear, Autosomal Dominant 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 81839 VANGL1 VANGL planar cell polarity protein 1 umls:C1838568 Sacral defect and anterior sacral meningocele 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 79628 SH3TC2 SH3 domain and tetratricopeptide repeats 2 umls:C3150596 MONONEUROPATHY OF THE MEDIAN NERVE, MILD 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 5257 PHKB phosphorylase kinase, beta umls:C0543514 Glycogen Storage Disease IXB 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 27235 COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase umls:C3551954 COENZYME Q10 DEFICIENCY, PRIMARY, 1 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 219844 HYLS1 hydrolethalus syndrome 1 umls:C1856016 Hydrolethalus Syndrome 1 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 83872 HMCN1 hemicentin 1 umls:C1864205 Macular Degeneration, Age-Related, 1 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 4838 NODAL nodal growth differentiation factor umls:C3495537 HETEROTAXY, VISCERAL, 5, AUTOSOMAL 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 265 AMELX amelogenin, X-linked umls:C1845052 Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1 0.42 3 Biomarker, GeneticVariation CTD_human, UNIPROT 9180 OSMR oncostatin M receptor umls:C0268398 Amyloidosis IX 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 83552 MFRP membrane frizzled-related protein umls:C1836006 Nanophthalmos 2 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 64135 IFIH1 interferon induced with helicase C domain 1 umls:C1857808 Diabetes Mellitus, Insulin-Dependent, 19 0.42 2 Biomarker, GeneticVariation CTD_human, UNIPROT 85366 MYLK2 myosin light chain kinase 2 umls:C3495498 Cardiomyopathy, Familial Hypertrophic, 1 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 64218 SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A umls:C1846529 Cone-Rod Dystrophy 10 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 54413 NLGN3 neuroligin 3 umls:C1845341 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 1834 DSPP dentin sialophosphoprotein umls:C1854146 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 9365 KL klotho umls:C1876187 Tumoral Calcinosis, Hyperphosphatemic, Familial 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 23600 AMACR alpha-methylacyl-CoA racemase umls:C1858328 Bile acid synthesis defect, congenital, 4 0.42 0 Biomarker, GeneticVariation CTD_human, UNIPROT 51114 ZDHHC9 zinc finger, DHHC-type containing 9 umls:C3275406 MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 0.42 1 Biomarker, GeneticVariation CTD_human, UNIPROT 367 AR androgen receptor umls:C0376358 Malignant neoplasm of prostate 0.42 1257 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD 4973 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 umls:C0027051 Myocardial Infarction 0.419424748664174 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 346007 EYS eyes shut homolog (Drosophila) umls:C0035334 Retinitis Pigmentosa 0.419346753639462 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 845 CASQ2 calsequestrin 2 (cardiac muscle) umls:C1631597 Polymorphic catecholergic ventricular tachycardia 0.419072146242997 33 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5191 PEX7 peroxisomal biogenesis factor 7 umls:C0034960 Refsum Disease 0.418985254044656 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 4901 NRL neural retina leucine zipper umls:C0035334 Retinitis Pigmentosa 0.418857739523986 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 55212 BBS7 Bardet-Biedl syndrome 7 umls:C0752166 Bardet-Biedl Syndrome 0.418779744499275 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 1815 DRD4 dopamine receptor D4 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.418704857923884 172 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 4537 ND3 NADH dehydrogenase, subunit 3 (complex I) umls:C0023264 Leigh Disease 0.418701749474563 4 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN, UNIPROT 4567 TRNL1 tRNA umls:C0162671 MELAS Syndrome 0.418574234953893 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 213 ALB albumin umls:C0342185 Hyperthyroxinemia, Familial Dysalbuminemic 0.41850513710281 30 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3291 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 umls:C2936861 Apparent mineralocorticoid excess 0.41850513710281 33 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 585 BBS4 Bardet-Biedl syndrome 4 umls:C0752166 Bardet-Biedl Syndrome 0.418447208970583 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 147138 TMC8 transmembrane channel-like 8 umls:C0014522 Epidermodysplasia Verruciformis 0.418447208970583 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 51744 CD244 CD244 molecule, natural killer cell receptor 2B4 umls:C0003873 Arthritis, Rheumatoid 0.418290730383799 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0175704 LEOPARD Syndrome 0.418290730383799 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 4598 MVK mevalonate kinase umls:C0398691 Hyperimmunoglobulin D with periodic fever 0.418270663491315 22 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, UNIPROT 10165 SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 umls:C1863844 Adult-onset citrullinemia type 2 0.418270663491315 22 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 10743 RAI1 retinoic acid induced 1 umls:C0795864 Smith-Magenis Syndrome 0.418221632532716 35 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7066 THPO thrombopoietin umls:C0040028 Thrombocythemia, Essential 0.418192668466603 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0028326 Noonan Syndrome 0.418085220838417 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 8792 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator umls:C0029401 Osteitis Deformans 0.418085220838417 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 3952 LEP leptin umls:C3554224 LEPTIN DEFICIENCY 0.417938127962623 29 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6606 SMN1 survival of motor neuron 1, telomeric umls:C0043116 Werdnig-Hoffmann Disease 0.417654623392529 27 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 7168 TPM1 tropomyosin 1 (alpha) umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.417625659326415 19 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0027627 Neoplasm Metastasis 0.417517945139094 334 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2584 GALK1 galactokinase 1 umls:C0268155 Deficiency of galactokinase 0.417469180739632 11 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, UNIPROT 4607 MYBPC3 myosin binding protein C, cardiac umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.417469180739632 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 2730 GCLM glutamate-cysteine ligase, modifier subunit umls:C0027051 Myocardial Infarction 0.417440216673518 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C0007193 Cardiomyopathy, Dilated 0.417440216673518 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0040479 Torsades de Pointes 0.41739118571492 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0002874 Anemia, Aplastic 0.41739118571492 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 2720 GLB1 galactosidase, beta 1 umls:C0086652 Mucopolysaccharidosis Type IVB 0.417371118822435 26 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 51684 SUFU suppressor of fused homolog (Drosophila) umls:C0025149 Medulloblastoma 0.417313190690208 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 1316 KLF6 Kruppel-like factor 6 umls:C0038356 Stomach Neoplasms 0.417156712103424 3 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, LHGDN 10461 MERTK MER proto-oncogene, tyrosine kinase umls:C0035334 Retinitis Pigmentosa 0.417107681144826 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C2697932 Loeys-Dietz Syndrome 0.417087614252342 26 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0206624 Hepatoblastoma 0.417058650186228 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0023467 Leukemia, Myeloid, Acute 0.416695906957566 339 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 6514 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 umls:C3495427 fanconi-bickel syndrome 0.416520605112154 23 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 5896 RAG1 recombination activating gene 1 umls:C1801959 Histiocytic medullary reticulosis 0.416520605112154 23 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6927 HNF1A HNF1 homeobox A umls:C0011860 Diabetes Mellitus, Type 2 0.416517577470432 132 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C1704429 Familial hypoalphalipoproteinemia 0.416237100542061 22 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 129880 BBS5 Bardet-Biedl syndrome 5 umls:C0752166 Bardet-Biedl Syndrome 0.416179172409833 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 145226 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) umls:C0035334 Retinitis Pigmentosa 0.415973662864452 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 4292 MLH1 mutL homolog 1 umls:C1321489 Muir-Torre Syndrome 0.415953595971967 21 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4540 ND5 NADH dehydrogenase, subunit 5 (complex I) umls:C0023264 Leigh Disease 0.41589566783974 5 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN, UNIPROT 2159 F10 coagulation factor X umls:C0015519 Factor X Deficiency 0.41589566783974 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0025286 Meningioma 0.41576815331907 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 1747 DLX3 distal-less homeobox 3 umls:C0265333 Tricho-dento-osseous syndrome 0.415719122360472 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 7248 TSC1 tuberous sclerosis 1 umls:C0751674 Lymphangioleiomyomatosis 0.415670091401873 20 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2624 GATA2 GATA binding protein 2 umls:C0026986 Myelodysplastic Syndromes 0.41564112733576 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 8195 MKKS McKusick-Kaufman syndrome umls:C0752166 Bardet-Biedl Syndrome 0.41564112733576 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0473780 Thrombocytopenia, Neonatal Alloimmune 0.415406653724264 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0038356 Stomach Neoplasms 0.415406653724264 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD, LHGDN 57152 SLURP1 secreted LY6/PLAUR domain containing 1 umls:C0025221 Acroerythrokeratoderma 0.41538658683178 20 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 84100 ARL6 ADP-ribosylation factor-like 6 umls:C0752166 Bardet-Biedl Syndrome 0.415357622765666 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 2719 GPC3 glypican 3 umls:C0027708 Wilms Tumor 0.415357622765666 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 4978 OPCML opioid binding protein/cell adhesion molecule-like umls:C0919267 Ovarian Neoplasms 0.415328658699552 3 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human, LHGDN 7080 NKX2-1 NK2 homeobox 1 umls:C0393584 CHOREA, BENIGN HEREDITARY 0.415103082261686 18 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C0014805 ERYTHERMALGIA, PRIMARY 0.415103082261686 18 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1540 CYLD cylindromatosis (turban tumor syndrome) umls:C1857941 Brooke-Spiegler syndrome 0.415103082261686 18 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4436 MSH2 mutS homolog 2 umls:C0265325 Turcot syndrome 0.415103082261686 18 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0042514 Tachycardia, Ventricular 0.414839644584077 3 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD, LHGDN 5925 RB1 retinoblastoma 1 umls:C0149925 Small Cell Lung Carcinoma 0.414819577691592 19 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, CTD_human 4070 TACSTD2 tumor-associated calcium signal transducer 2 umls:C0339273 Corneal dystrophy, gelatinous drop-like 0.414819577691592 17 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 79738 BBS10 Bardet-Biedl syndrome 10 umls:C0752166 Bardet-Biedl Syndrome 0.414790613625479 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 7504 XK X-linked Kx blood group umls:C0398568 Neuroacanthocytosis, Mcleod Type 0.414634135038695 4 GeneticVariation CLINVAR, GAD, UNIPROT 10483 SEC23B Sec23 homolog B (S. cerevisiae) umls:C1306589 Congenital dyserythropoietic anemia, type II 0.414536073121499 17 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 427 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 umls:C0268255 Farber Lipogranulomatosis 0.414536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0027627 Neoplasm Metastasis 0.414375337744611 230 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 4512 COX1 cytochrome c oxidase subunit I umls:C1527249 Colorectal Cancer 0.414301599510003 8 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, UNIPROT 7020 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) umls:C0376524 branchio oculo facial syndrome 0.414252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3643 INSR insulin receptor umls:C0271695 Rabson-Mendenhall syndrome 0.414252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1584 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 umls:C1260386 Glucocorticoid-Remediable Aldosteronism 0.414252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 190 NR0B1 nuclear receptor subfamily 0, group B, member 1 umls:C1848296 Dosage-sensitive sex reversal 0.414252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6041 RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) umls:C2931456 Prostate cancer, familial 0.414252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0023234 Legg-Calve-Perthes Disease 0.41401809493991 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 6899 TBX1 T-box 1 umls:C0039685 Tetralogy of Fallot 0.41401809493991 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 85358 SHANK3 SH3 and multiple ankyrin repeat domains 3 umls:C1853490 22q13.3 deletion syndrome 0.413969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 10801 SEPT9 septin 9 umls:C1834304 AMYOTROPHY, HEREDITARY NEURALGIC 0.413969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0340493 Paroxysmal ventricular fibrillation 0.413969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6872 TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa umls:C1839130 Dystonia 3, Torsion, X-Linked 0.413969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5961 PRPH2 peripherin 2 (retinal degeneration, slow) umls:C1842914 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET 0.413734590369816 5 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, UNIPROT 2820 GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) umls:C0011860 Diabetes Mellitus, Type 2 0.413734590369816 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 1641 DCX doublecortin umls:C1848199 LISSENCEPHALY, X-LINKED, 1 0.413685559411218 21 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4598 MVK mevalonate kinase umls:C1959626 Mevalonic aciduria 0.413685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 5604 MAP2K1 mitogen-activated protein kinase kinase 1 umls:C1275081 Cardiofaciocutaneous syndrome 0.413685559411218 15 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4920 ROR2 receptor tyrosine kinase-like orphan receptor 2 umls:C1862112 Brachydactyly, Type B1 0.413685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6530 SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2 umls:C0026267 Mitral Valve Prolapse 0.413451085799722 4 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, UNIPROT 2627 GATA6 GATA binding protein 6 umls:C0039685 Tetralogy of Fallot 0.413451085799722 4 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, UNIPROT 2653 GCSH glycine cleavage system protein H (aminomethyl carrier) umls:C0751748 Hyperglycinemia, Nonketotic 0.413451085799722 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 51360 MBTPS2 membrane-bound transcription factor peptidase, site 2 umls:C0343057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 0.413402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4352 MPL MPL proto-oncogene, thrombopoietin receptor umls:C0026987 Myelofibrosis 0.413402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1286 COL4A4 collagen, type IV, alpha 4 umls:C0241908 Hematuria, Benign Familial 0.413402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 867 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase umls:C0349639 Leukemia, Myelomonocytic, Juvenile 0.413402054841124 13 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2956 MSH6 mutS homolog 6 umls:C0265325 Turcot syndrome 0.413402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 64324 NSD1 nuclear receptor binding SET domain protein 1 umls:C0004903 Beckwith-Wiedemann Syndrome 0.41337309077501 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 4508 ATP6 ATP synthase F0 subunit 6 umls:C0917796 Optic Atrophy, Hereditary, Leber 0.413167581229629 3 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, UNIPROT 6898 TAT tyrosine aminotransferase umls:C0268487 Hypertyrosinemia, Richner-Hanhart type 0.41311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9820 CUL7 cullin 7 umls:C2678312 THREE M SYNDROME 1 0.41311855027103 12 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9820 CUL7 cullin 7 umls:C1848862 Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 0.41311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1758 DMP1 dentin matrix acidic phosphoprotein 1 umls:C0342643 Hypophosphatemic Rickets, Autosomal Recessive, 1 0.41311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 22861 NLRP1 NLR family, pyrin domain containing 1 umls:C1847835 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 0.41311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C0162671 MELAS Syndrome 0.413089586204917 3 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN, UNIPROT 2778 GNAS GNAS complex locus umls:C0346302 Growth Hormone-Secreting Pituitary Adenoma 0.413089586204917 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 23095 KIF1B kinesin family member 1B umls:C0031511 Pheochromocytoma 0.413089586204917 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 4540 ND5 NADH dehydrogenase, subunit 5 (complex I) umls:C0917796 Optic Atrophy, Hereditary, Leber 0.412884076659535 2 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, UNIPROT 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0221054 WELANDER DISTAL MYOPATHY 0.412835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 8892 EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa umls:C1858991 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 0.412835045700937 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1967 EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa umls:C1858991 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 0.412835045700937 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 26525 IL36RN interleukin 36 receptor antagonist umls:C0343055 Generalized pustular psoriasis 0.412835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 8890 EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa umls:C1858991 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 0.412835045700937 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2243 FGA fibrinogen alpha chain umls:C0019250 Afibrinogenemia congenital 0.412835045700937 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C1837475 Insulin-Like Growth Factor I Deficiency 0.412835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5605 MAP2K2 mitogen-activated protein kinase kinase 2 umls:C1275081 Cardiofaciocutaneous syndrome 0.412835045700937 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 727897 MUC5B mucin 5B, oligomeric mucus/gel-forming umls:C1800706 Idiopathic Pulmonary Fibrosis 0.412835045700937 11 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 23111 SPG20 spastic paraplegia 20 (Troyer syndrome) umls:C0393559 Spastic paraplegia 20, autosomal recessive 0.412835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8792 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator umls:C0432292 Polyostotic osteolytic dysplasia, hereditary expansile 0.412835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 79650 USB1 U6 snRNA biogenesis 1 umls:C1858723 Poikiloderma with Neutropenia 0.412835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 11200 CHEK2 checkpoint kinase 2 umls:C0029463 Osteosarcoma 0.412806081634823 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 4633 MYL2 myosin, light chain 2, regulatory, cardiac, slow umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.412806081634823 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, LHGDN 1258 CNGB1 cyclic nucleotide gated channel beta 1 umls:C0035334 Retinitis Pigmentosa 0.412600572089441 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 2729 GCLC glutamate-cysteine ligase, catalytic subunit umls:C0027051 Myocardial Infarction 0.412600572089441 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 5308 PITX2 paired-like homeodomain 2 umls:C0344559 Peters anomaly 0.412600572089441 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human, GAD 1738 DLD dihydrolipoamide dehydrogenase umls:C0268193 NADH cytochrome B5 reductase deficiency 0.412551541130843 12 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2294 FOXF1 forkhead box F1 umls:C0031190 Persistent Fetal Circulation Syndrome 0.412551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1161 ERCC8 excision repair cross-complementation group 8 umls:C0751039 COCKAYNE SYNDROME A 0.412551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6606 SMN1 survival of motor neuron 1, telomeric umls:C0152109 Kugelberg-Welander disease 0.412551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 200879 LIPH lipase, member H umls:C1836672 Total Hypotrichosis, Mari type 0.412551541130843 10 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 847 CAT catalase umls:C0268419 Acatalasia 0.412551541130843 12 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2645 GCK glucokinase (hexokinase 4) umls:C1833104 Diabetes Mellitus, Permanent Neonatal 0.412551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 9563 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) umls:C1291245 Cortisone reductase deficiency 0.412551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4014 LOR loricrin umls:C1858805 Vohwinkel Syndrome, Variant Form 0.412551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6295 SAG S-antigen; retina and pineal gland (arrestin) umls:C1306122 Oguchi disease 0.412551541130843 10 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 440823 MIAT myocardial infarction associated transcript (non-protein coding) umls:C0027051 Myocardial Infarction 0.412522577064729 1 Biomarker, GeneticVariation CLINVAR, CTD_human, LHGDN 4595 MUTYH mutY homolog umls:C0038356 Stomach Neoplasms 0.412522577064729 1 Biomarker, GeneticVariation CLINVAR, CTD_human, LHGDN 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0024305 Lymphoma, Non-Hodgkin 0.412317067519348 1 GeneticVariation CLINVAR, GAD, UNIPROT 8438 RAD54L RAD54-like (S. cerevisiae) umls:C0024305 Lymphoma, Non-Hodgkin 0.412317067519348 1 Biomarker, GeneticVariation CLINVAR, CTD_human, GAD 387733 IFITM5 interferon induced transmembrane protein 5 umls:C1970414 Osteogenesis Imperfecta, Type V 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3872 KRT17 keratin 17, type I umls:C1721007 PACHYONYCHIA CONGENITA 2 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0152013 Adenocarcinoma of lung 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3655 ITGA6 integrin, alpha 6 umls:C1856934 Epidermolysis bullosa with pyloric atresia 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 23592 LEMD3 LEM domain containing 3 umls:C0265514 Buschke-Ollendorff syndrome 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4853 NOTCH2 notch 2 umls:C0917715 Hajdu-Cheney Syndrome 0.412268036560749 9 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8864 PER2 period circadian clock 2 umls:C1858496 Advanced Sleep-Phase Syndrome, Familial 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5317 PKP1 plakophilin 1 umls:C1858302 Ectodermal dysplasia/ skin fragility syndrome 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 22930 RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) umls:C1838625 Warburg Sjo Fledelius syndrome 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6611 SMS spermine synthase umls:C0796160 Snyder Robinson syndrome 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 11277 TREX1 three prime repair exonuclease 1 umls:C0024145 Chilblain lupus 0.412268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1471 CST3 cystatin C umls:C1527338 Hereditary cerebral amyloid angiopathy, Icelandic type 0.411984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2720 GLB1 galactosidase, beta 1 umls:C0268271 GM1-GANGLIOSIDOSIS, TYPE I 0.411984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C1856058 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 0.411984531990656 10 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 112476 PRRT2 proline-rich transmembrane protein 2 umls:C1865926 Infantile convulsions and paroxysmal choreoathetosis, familial 0.411984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 81704 DOCK8 dedicator of cytokinesis 8 umls:C1968689 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE 0.411984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 145173 B3GALTL beta 1,3-galactosyltransferase-like umls:C0796012 Krause-Kivlin syndrome 0.411984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4582 MUC1 mucin 1, cell surface associated umls:C1868139 Medullary cystic kidney disease 1 0.411984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 80207 OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) umls:C0574084 Costeff optic atrophy syndrome 0.411984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C3714580 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 0.411984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6620 SNCB synuclein, beta umls:C0752347 Lewy Body Disease 0.411984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6654 SOS1 son of sevenless homolog 1 (Drosophila) umls:C0399440 Fibromatosis, Gingival, Type 1 0.411984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 84627 ZNF469 zinc finger protein 469 umls:C0268344 Ehlers-Danlos syndrome 6B 0.411984531990656 8 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2317 FLNB filamin B, beta umls:C1835564 LARSEN SYNDROME 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2799 GNS glucosamine (N-acetyl)-6-sulfatase umls:C0086650 Mucopolysaccharidosis, MPS-III-D 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 umls:C0342471 3b-Hydroxysteroid Dehydrogenase Deficiency 0.411701027420562 9 GeneticVariation BeFree, CLINVAR, UNIPROT 4601 MXI1 MAX interactor 1, dimerization protein umls:C0376358 Malignant neoplasm of prostate 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4088 SMAD3 SMAD family member 3 umls:C3151087 LOEYS-DIETZ SYNDROME 3 0.411701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1591 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 umls:C0268080 Hypercalcemia, Idiopathic, of Infancy 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase umls:C0086649 Mucopolysaccharidosis, MPS-III-C 0.411701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 146059 CDAN1 codanin 1 umls:C0271933 Congenital dyserythropoietic anemia, type I 0.411701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 162514 TRPV3 transient receptor potential cation channel, subfamily V, member 3 umls:C2609071 Olmsted syndrome 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 79944 L2HGDH L-2-hydroxyglutarate dehydrogenase umls:C1855995 L-2-HYDROXYGLUTARIC ACIDURIA 0.411701027420562 9 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 80067 DCAF17 DDB1 and CUL4 associated factor 17 umls:C0342286 Woodhouse Sakati syndrome 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1813 DRD2 dopamine receptor D2 umls:C1834570 Myoclonic dystonia 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1832 DSP desmoplakin umls:C1854063 Cardiomyopathy dilated with Woolly hair and keratoderma 0.411701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 10410 IFITM3 interferon induced transmembrane protein 3 umls:C0021400 Influenza, Human 0.411701027420562 7 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3848 KRT1 keratin 1, type II umls:C1721006 Keratoderma, Palmoplantar, Epidermolytic 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 23417 MLYCD malonyl-CoA decarboxylase umls:C0342793 Malonic aciduria 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C1833921 Familial medullary thyroid carcinoma 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 9939 RBM8A RNA binding motif protein 8A umls:C0175703 Absent radii and thrombocytopenia 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 343637 RSPO4 R-spondin 4 umls:C0265998 Anonychia congenita 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7012 TERC telomerase RNA component umls:C1851970 Dyskeratosis Congenita, Autosomal Dominant 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0268414 Hyperostosis corticalis deformans juvenilis 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7436 VLDLR very low density lipoprotein receptor umls:C0394006 Dysequilibrium syndrome 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 331 XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase umls:C1845076 Lymphoproliferative Syndrome, X-Linked, 2 0.411701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0009404 Colorectal Neoplasms 0.411462060555264 92 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN, RGD 3852 KRT5 keratin 5, type II umls:C0080333 Weber-Cockayne syndrome 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1180 CLCN1 chloride channel, voltage-sensitive 1 umls:C0751360 Congenital myotonia, autosomal recessive form 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1028 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) umls:C1846009 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1723 DHODH dihydroorotate dehydrogenase (quinone) umls:C0265257 Genee-Wiedemann syndrome 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9780 PIEZO1 piezo-type mechanosensitive ion channel component 1 umls:C0272051 Xerocytosis, hereditary 0.411417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 5654 HTRA1 HtrA serine peptidase 1 umls:C1838577 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 0.411417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 57679 ALS2 amyotrophic lateral sclerosis 2 (juvenile) umls:C1853396 Primary lateral sclerosis juvenile 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 166379 BBS12 Bardet-Biedl syndrome 12 umls:C0752166 Bardet-Biedl Syndrome 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1056 CEL carboxyl ester lipase umls:C1853297 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0796173 Spondyloperipheral dysplasia short ulna 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2299 FOXI1 forkhead box I1 umls:C1863752 Enlarged Vestibular Aqueduct 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 60495 HPSE2 heparanase 2 (inactive) umls:C0403555 Urofacial syndrome 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 84634 KISS1R KISS1 receptor umls:C0342543 Precocious Puberty, Central 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4771 NF2 neurofibromin 2 (merlin) umls:C1335929 Schwannomatosis 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 10216 PRG4 proteoglycan 4 umls:C1859690 Jacobs syndrome 0.411417522850468 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 9401 RECQL4 RecQ protein-like 4 umls:C1849453 Rapadilino syndrome 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6340 SCNN1G sodium channel, non voltage gated 1 gamma subunit umls:C0221043 Liddle Syndrome 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6908 TBP TATA box binding protein umls:C1846707 Spinocerebellar Ataxia 17 0.411417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3636 INPPL1 inositol polyphosphate phosphatase-like 1 umls:C0432219 Opsismodysplasia 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6341 SCO1 SCO1 cytochrome c oxidase assembly protein umls:C0268237 Cytochrome-c Oxidase Deficiency 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4519 CYTB cytochrome b umls:C0917796 Optic Atrophy, Hereditary, Leber 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4513 COX2 cytochrome c oxidase subunit II umls:C0268237 Cytochrome-c Oxidase Deficiency 0.411134018280375 5 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4540 ND5 NADH dehydrogenase, subunit 5 (complex I) umls:C0162671 MELAS Syndrome 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 7170 TPM3 tropomyosin 3 umls:C0546264 Congenital Fiber-Type Disproportion 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0011195 dejerine-sottas disease 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1184 CLCN5 chloride channel, voltage-sensitive 5 umls:C1845168 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 8893 EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa umls:C1858991 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 0.411134018280375 9 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2582 GALE UDP-galactose-4-epimerase umls:C0751161 UDPglucose-4-epimerase deficiency 0.411134018280375 7 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6606 SMN1 survival of motor neuron 1, telomeric umls:C0393538 spinal muscular atrophy type ii 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9652 TTC37 tetratricopeptide repeat domain 37 umls:C1857276 Trichohepatoenteric Syndrome 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 220202 ATOH7 atonal homolog 7 (Drosophila) umls:C1857299 Retinal Nonattachment, Nonsyndromic Congenital 0.411134018280375 6 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 54757 FAM20A family with sequence similarity 20, member A umls:C2931783 Amelogenesis imperfecta nephrocalcinosis 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 64421 DCLRE1C DNA cross-link repair 1C umls:C1801959 Histiocytic medullary reticulosis 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 324 APC adenomatous polyposis coli umls:C1851124 Desmoid disease, hereditary 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 171023 ASXL1 additional sex combs like transcriptional regulator 1 umls:C0796232 Bohring syndrome 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 25814 ATXN10 ataxin 10 umls:C1963674 Spinocerebellar Ataxia 10 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6315 ATXN8OS ATXN8 opposite strand (non-protein coding) umls:C1837454 Spinocerebellar ataxia 8 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3075 CFH complement factor H umls:C0730295 Basal Laminar Drusen 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0238339 Hereditary pancreatitis 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 9076 CLDN1 claudin 1 umls:C1843355 Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 30008 EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 umls:C0268351 Cutis Laxa, Autosomal Recessive, Type I 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2301 FOXE3 forkhead box E3 umls:C1853230 Aphakia, congenital primary 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 92344 GORAB golgin, RAB6-interacting umls:C0432255 Gerodermia osteodysplastica 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5521 PPP2R2B protein phosphatase 2, regulatory subunit B, beta umls:C1858501 Spinocerebellar Ataxia 12 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 57038 RARS2 arginyl-tRNA synthetase 2, mitochondrial umls:C1969084 Pontocerebellar Hypoplasia Type 6 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6390 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) umls:C1847319 Carney-Stratakis Syndrome 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C1847319 Carney-Stratakis Syndrome 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 10479 SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 umls:C2678194 Mental Retardation, X-Linked, Syndromic, Christianson Type 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6591 SNAI2 snail family zinc finger 2 umls:C0080024 Piebaldism 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 51324 SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) umls:C1855346 MAST Syndrome 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7015 TERT telomerase reverse transcriptase umls:C1851970 Dyskeratosis Congenita, Autosomal Dominant 0.411134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4512 COX1 cytochrome c oxidase subunit I umls:C0268237 Cytochrome-c Oxidase Deficiency 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4803 NGF nerve growth factor (beta polypeptide) umls:C0020075 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V 0.410850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3861 KRT14 keratin 14, type I umls:C0079299 Generalized epidermolysis bullosa simplex 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 344 APOC2 apolipoprotein C-II umls:C1720779 APOLIPOPROTEIN C-II DEFICIENCY 0.410850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 735 C9 complement component 9 umls:C3151189 C9 Deficiency 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2271 FH fumarate hydratase umls:C0342770 Fumarase deficiency 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2773 GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 umls:C1865295 Auriculo-condylar syndrome 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1959 EGR2 early growth response 2 umls:C0011195 dejerine-sottas disease 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0265971 Acrokeratosis verruciformis of Hopf 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2624 GATA2 GATA binding protein 2 umls:C3279664 Emberger syndrome 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2200 FBN1 fibrillin 1 umls:C0265287 Acromicric dysplasia 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 7474 WNT5A wingless-type MMTV integration site family, member 5A umls:C0265205 Robinow Syndrome, Autosomal Dominant 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3295 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 umls:C0685838 Gonadal dysgenesis XX type deafness 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6786 STIM1 stromal interaction molecule 1 umls:C0410207 MYOPATHY, TUBULAR AGGREGATE 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 8243 SMC1A structural maintenance of chromosomes 1A umls:C1802395 Congenital muscular hypertrophy-cerebral syndrome 0.410850513710281 6 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9343 EFTUD2 elongation factor Tu GTP binding domain containing 2 umls:C1864652 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C0265210 Weaver syndrome 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 728294 D2HGDH D-2-hydroxyglutarate dehydrogenase umls:C3152055 D-2-HYDROXYGLUTARIC ACIDURIA 1 0.410850513710281 5 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1636 ACE angiotensin I converting enzyme umls:C0266313 Allanson Pantzar McLeod syndrome 0.410850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 9049 AIP aryl hydrocarbon receptor interacting protein umls:C0346302 Growth Hormone-Secreting Pituitary Adenoma 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 57679 ALS2 amyotrophic lateral sclerosis 2 (juvenile) umls:C1859807 Amyotrophic Lateral Sclerosis 2, Juvenile 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 196527 ANO6 anoctamin 6 umls:C0796149 Scott Syndrome 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 324 APC adenomatous polyposis coli umls:C0038356 Stomach Neoplasms 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 477 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide umls:C0338488 Alternating hemiplegia of childhood 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 23545 ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 umls:C0406587 Wrinkly skin syndrome 0.410850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0344559 Peters anomaly 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1832 DSP desmoplakin umls:C1864826 Epidermolysis bullosa, lethal acantholytic 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 114327 EFHC1 EF-hand domain (C-terminal) containing 1 umls:C0014553 Epilepsy, Absence 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8892 EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa umls:C1847967 Vanishing White Matter Leukodystrophy with Ovarian Failure 0.410850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8890 EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa umls:C1847967 Vanishing White Matter Leukodystrophy with Ovarian Failure 0.410850513710281 4 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2200 FBN1 fibrillin 1 umls:C1858556 MASS syndrome 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2255 FGF10 fibroblast growth factor 10 umls:C0158667 Aplasia of Lacrimal and Salivary Glands 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3155 HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase umls:C0268601 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3827 KNG1 kininogen 1 umls:C0272340 Flaujeac factor deficiency 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4851 NOTCH1 notch 1 umls:C1260873 Aortic Valve Disease 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5339 PLEC plectin umls:C2677349 Epidermolysis Bullosa Simplex With Pyloric Atresia 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5740 PTGIS prostaglandin I2 (prostacyclin) synthase umls:C0085580 Hypertension, Essential 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8241 RBM10 RNA binding motif protein 10 umls:C1839463 TARP syndrome 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6023 RMRP RNA component of mitochondrial RNA processing endoribonuclease umls:C1846796 Anauxetic dysplasia 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6657 SOX2 SRY (sex determining region Y)-box 2 umls:C1859773 Microphthalmia, Syndromic 3 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6888 TALDO1 transaldolase 1 umls:C1291329 Transaldolase Deficiency 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6905 TBCE tubulin folding cofactor E umls:C1855840 Hypoparathyroidism-retardation-dysmorphism syndrome 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7012 TERC telomerase RNA component umls:C1800706 Idiopathic Pulmonary Fibrosis 0.410850513710281 5 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8795 TNFRSF10B tumor necrosis factor receptor superfamily, member 10b umls:C1168401 Carcinoma, squamous cell of head and neck 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 23503 ZFYVE26 zinc finger, FYVE domain containing 26 umls:C1849128 Spastic paraplegia 15, autosomal recessive 0.410850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7124 TNF tumor necrosis factor umls:C0010346 Crohn Disease 0.410738639150418 104 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0011860 Diabetes Mellitus, Type 2 0.410708801829034 132 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1636 ACE angiotensin I converting enzyme umls:C0149721 Hypertrophy, Left Ventricular 0.410621909630693 110 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 8481 OFD1 oral-facial-digital syndrome 1 umls:C1510460 OROFACIODIGITAL SYNDROME I 0.410567009140187 7 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C1836683 Czech dysplasia, metatarsal type 0.410567009140187 2 GeneticVariation BeFree, CLINVAR, UNIPROT 5159 PDGFRB platelet-derived growth factor receptor, beta polypeptide umls:C0432284 Fibromatosis, Congenital Generalized 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2260 FGFR1 fibroblast growth factor receptor 1 umls:C1563720 HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2720 GLB1 galactosidase, beta 1 umls:C0268273 Adult GM1 gangliosidosis 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 5447 POR P450 (cytochrome) oxidoreductase umls:C1860042 DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C0546264 Congenital Fiber-Type Disproportion 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 5295 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) umls:C0878684 SHORT syndrome 0.410567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0085261 Proteus Syndrome 0.410567009140187 2 GeneticVariation BeFree, CLINVAR, UNIPROT 3094 HINT1 histidine triad nucleotide binding protein 1 umls:C0242287 Isaacs Syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3832 KIF11 kinesin family member 11 umls:C1835265 Lymphedema, microcephaly and chorioretinopathy syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1285 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) umls:C1567743 ALPORT SYNDROME, AUTOSOMAL DOMINANT 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2296 FOXC1 forkhead box C1 umls:C0344559 Peters anomaly 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9094 UNC119 unc-119 homolog (C. elegans) umls:C3809768 IMMUNODEFICIENCY 13 0.410567009140187 2 GeneticVariation BeFree, CLINVAR, UNIPROT 3835 KIF22 kinesin family member 22 umls:C1863732 Spondyloepimetaphyseal dysplasia with multiple dislocations 0.410567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 197322 ACSF3 acyl-CoA synthetase family member 3 umls:C3280314 Combined Malonic and Methylmalonic Aciduria 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 55605 KIF21A kinesin family member 21A umls:C1851102 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 0.410567009140187 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 22856 CHSY1 chondroitin sulfate synthase 1 umls:C1854466 Temtamy preaxial brachydactyly syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 85007 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase umls:C3554344 PHOSPHOHYDROXYLYSINURIA 0.410567009140187 2 GeneticVariation BeFree, CLINVAR, UNIPROT 168667 BMPER BMP binding endothelial regulator umls:C1842691 Diaphanospondylodysostosis 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4750 NEK1 NIMA-related kinase 1 umls:C0024507 Short rib-polydactyly syndrome, Majewski type 0.410567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 7780 SLC30A2 solute carrier family 30 (zinc transporter), member 2 umls:C1842486 Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc 0.410567009140187 3 GeneticVariation BeFree, CLINVAR, UNIPROT 79092 CARD14 caspase recruitment domain family, member 14 umls:C0032027 Pityriasis Rubra Pilaris 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 80331 DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 umls:C1834207 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 79827 CLMP CXADR-like membrane protein umls:C0021847 Intestinal Pseudo-Obstruction 0.410567009140187 2 GeneticVariation BeFree, CLINVAR, UNIPROT 54982 CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant umls:C0022797 Adult neuronal ceroid lipofuscinosis 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 51816 CECR1 cat eye syndrome chromosome region, candidate 1 umls:C0031036 Polyarteritis Nodosa 0.410567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 10157 AASS aminoadipate-semialdehyde synthase umls:C0268553 Hyperlysinemias 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 590 BCHE butyrylcholinesterase umls:C1283400 Butyrylcholinesterase deficiency 0.410567009140187 6 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 388939 C2orf71 chromosome 2 open reading frame 71 umls:C0035334 Retinitis Pigmentosa 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 732 C8B complement component 8, beta polypeptide umls:C3151080 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 846 CASR calcium-sensing receptor umls:C1832648 Hypoparathyroidism familial isolated 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 55997 CFC1 cripto, FRL-1, cryptic family 1 umls:C0013069 Double Outlet Right Ventricle 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C0750384 Coumarin Resistance 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2138 EYA1 EYA transcriptional coactivator and phosphatase 1 umls:C1833691 Otofaciocervical Syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 83706 FERMT3 fermitin family member 3 umls:C2748536 Leukocyte Adhesion Deficiency, Type III 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2688 GH1 growth hormone 1 umls:C0342573 Pituitary dwarfism 1 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 10082 GPC6 glypican 6 umls:C1850318 Omodysplasia type 1 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 29899 GPSM2 G-protein signaling modulator 2 umls:C1858695 Chudley-Mccullough syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3242 HPD 4-hydroxyphenylpyruvate dioxygenase umls:C2931042 Hawkinsinuria 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C2748507 Deficiency of interleukin-1 receptor antagonist 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 23479 ISCU iron-sulfur cluster assembly enzyme umls:C1850718 Myopathy with Lactic Acidosis, Hereditary 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3795 KHK ketohexokinase (fructokinase) umls:C0268160 Fructosuria 0.410567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3861 KRT14 keratin 14, type I umls:C0406778 Dermatopathia pigmentosa reticularis 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3861 KRT14 keratin 14, type I umls:C0343111 Naegeli syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3852 KRT5 keratin 5, type II umls:C1836284 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 64788 LMF1 lipase maturation factor 1 umls:C1855498 Lipase deficiency combined 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 51360 MBTPS2 membrane-bound transcription factor peptidase, site 2 umls:C1839988 Ichthyosis follicularis atrichia photophobia syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4763 NF1 neurofibromin 1 umls:C0553586 Caf-au-lait macules with pulmonary stenosis 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 9241 NOG noggin umls:C1866656 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 80025 PANK2 pantothenate kinase 2 umls:C1846582 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 93183 PIGM phosphatidylinositol glycan anchor biosynthesis, class M umls:C1853205 Glycosylphosphatidylinositol deficiency 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5660 PSAP prosaposin umls:C2673635 Combined Saposin Deficiency 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0410530 Metachondromatosis 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5818 PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) umls:C2931488 Zlotogora-Ogur syndrome 0.410567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 51715 RAB23 RAB23, member RAS oncogene family umls:C1275078 Acrocephalopolysyndactyly Type II 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 388531 RGS9BP regulator of G protein signaling 9 binding protein umls:C1842073 Prolonged Electroretinal Response Suppression 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 54453 RIN2 Ras and Rab interactor 2 umls:C2751321 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4088 SMAD3 SMAD family member 3 umls:C2697932 Loeys-Dietz Syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 9342 SNAP29 synaptosomal-associated protein, 29kDa umls:C1836033 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6913 TBX15 T-box 15 umls:C1850040 Pelviscapular dysplasia 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5651 TMPRSS15 transmembrane protease, serine 15 umls:C0268416 Enterokinase Deficiency 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7138 TNNT1 troponin T type 1 (skeletal, slow) umls:C1854380 Nemaline myopathy 5 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8626 TP63 tumor protein p63 umls:C1863753 Limb-mammary syndrome 0.410567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4567 TRNL1 tRNA umls:C0162666 Mitochondrial Encephalomyopathies 0.410567009140187 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7252 TSHB thyroid stimulating hormone, beta umls:C0271789 Hypothyroidism, Congenital, Nongoitrous, 4 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7259 TSPYL1 TSPY-like 1 umls:C1837371 Sudden Infant Death with Dysgenesis of the Testes Syndrome 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7443 VRK1 vaccinia related kinase 1 umls:C1843504 Pontocerebellar Hypoplasia Type 1 0.410567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 116519 APOA5 apolipoprotein A-V umls:C0020557 Hypertriglyceridemia 0.410361233035669 33 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta umls:C3714976 Activated PI3K-delta Syndrome 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 102 ADAM10 ADAM metallopeptidase domain 10 umls:C0406811 Reticulate acropigmentation of Kitamura 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 8996 NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) umls:C3539916 MYOCLONUS, FAMILIAL CORTICAL 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 4038 LRP4 low density lipoprotein receptor-related protein 4 umls:C3280402 SCLEROSTEOSIS 2 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 8815 BANF1 barrier to autointegration factor 1 umls:C3151446 NESTOR-GUILLERMO PROGERIA SYNDROME 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6305 SBF1 SET binding factor 1 umls:C3695063 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 6496 SIX3 SIX homeobox 3 umls:C0266484 Schizencephaly 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 10617 STAMBP STAM binding protein umls:C3280296 Microcephaly-capillary malformation syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4519 CYTB cytochrome b umls:C1708371 Cardiomyopathy, infantile histiocytoid 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1719 DHFR dihydrofolate reductase umls:C3151205 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency 0.410283504570094 2 GeneticVariation BeFree, CLINVAR, UNIPROT 3240 HP haptoglobin umls:C3279786 ANHAPTOGLOBINEMIA 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4539 ND4L NADH dehydrogenase, subunit 4L (complex I) umls:C0917796 Optic Atrophy, Hereditary, Leber 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4541 ND6 NADH dehydrogenase, subunit 6 (complex I) umls:C0162671 MELAS Syndrome 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 1583 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 umls:C3151055 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE 0.410283504570094 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 710 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 umls:C2717906 ANGIOEDEMA, HEREDITARY, TYPE I 0.410283504570094 11 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1906 EDN1 endothelin 1 umls:C2748545 QUESTION MARK EARS, ISOLATED 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1290 COL5A2 collagen, type V, alpha 2 umls:C0268336 Ehlers-Danlos syndrome type 2 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3990 LIPC lipase, hepatic umls:C3151466 HEPATIC LIPASE DEFICIENCY 0.410283504570094 2 GeneticVariation BeFree, CLINVAR, UNIPROT 2260 FGFR1 fibroblast growth factor receptor 1 umls:C1845146 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3852 KRT5 keratin 5, type II umls:C0079299 Generalized epidermolysis bullosa simplex 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 5618 PRLR prolactin receptor umls:C0020514 Hyperprolactinemia 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4668 NAGA N-acetylgalactosaminidase, alpha- umls:C1836522 KANZAKI DISEASE 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 1585 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 umls:C3463917 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3973 LHCGR luteinizing hormone/choriogonadotropin receptor umls:C0266432 Leydig cell agenesis 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3730 KAL1 Kallmann syndrome 1 sequence umls:C1563719 Kallmann Syndrome 1 0.410283504570094 10 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9775 EIF4A3 eukaryotic translation initiation factor 4A3 umls:C1849348 Richieri Costa Pereira syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 8260 NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit umls:C3275447 OGDEN SYNDROME 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C2752042 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 7293 TNFRSF4 tumor necrosis factor receptor superfamily, member 4 umls:C3810053 IMMUNODEFICIENCY 16 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 5130 PCYT1A phosphate cytidylyltransferase 1, choline, alpha umls:C1837073 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 6576 SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 umls:C2746066 2-Hydroxyglutaricaciduria 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 3048 HBG2 hemoglobin, gamma G umls:C3151421 CYANOSIS, TRANSIENT NEONATAL 0.410283504570094 4 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 10661 KLF1 Kruppel-like factor 1 (erythroid) umls:C3150926 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV 0.410283504570094 2 GeneticVariation BeFree, CLINVAR, UNIPROT 1778 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 umls:C1834690 Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 4784 NFIX nuclear factor I/X (CCAAT-binding transcription factor) umls:C3553660 SOTOS SYNDROME 2 0.410283504570094 2 GeneticVariation BeFree, CLINVAR, UNIPROT 6813 STXBP2 syntaxin binding protein 2 umls:C2751293 Hemophagocytic Lymphohistiocytosis, Familial, 5 0.410283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 80169 CTC1 CTS telomere maintenance complex component 1 umls:C2677299 Cerebroretinal Microangiopathy with Calcifications and Cysts 0.410283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 79651 RHBDF2 rhomboid 5 homolog 2 (Drosophila) umls:C1835664 Keratosis palmoplantaris with esophageal cancer 0.410283504570094 2 GeneticVariation BeFree, CLINVAR, UNIPROT 284252 KCTD1 potassium channel tetramerization domain containing 1 umls:C1867020 Scalp ear nipple syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 79784 MYH14 myosin, heavy chain 14, non-muscle umls:C3280556 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 222546 RFX6 regulatory factor X, 6 umls:C2748662 Mitchell-Riley Syndrome 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 25886 POC1A POC1 centriolar protein A umls:C3542022 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 170692 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 umls:C3809567 MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 2627 GATA6 GATA binding protein 6 umls:C1838780 Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9968 MED12 mediator complex subunit 12 umls:C3698541 Ohdo syndrome, Maat-Kievit-Brunner type 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 51604 PIGT phosphatidylinositol glycan anchor biosynthesis, class T umls:C3809356 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 0.410283504570094 2 GeneticVariation BeFree, CLINVAR, UNIPROT 91179 SCARF2 scavenger receptor class F, member 2 umls:C1833136 Marden Walker like syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 246329 STAC3 SH3 and cysteine rich domain 3 umls:C1850625 Native American myopathy 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 63901 FAM111A family with sequence similarity 111, member A umls:C0265291 Kenny Caffey syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 63901 FAM111A family with sequence similarity 111, member A umls:C1865639 Gracile bone dysplasia 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 2138 EYA1 EYA transcriptional coactivator and phosphatase 1 umls:C1865143 Branchiootic syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 50 ACO2 aconitase 2, mitochondrial umls:C3281192 INFANTILE CEREBELLAR-RETINAL DEGENERATION 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 50964 SOST sclerostin umls:C2675746 Craniodiaphyseal Dysplasia, Autosomal Dominant 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 91851 CHRDL1 chordin-like 1 umls:C0344530 Megalocornea 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 63982 ANO3 anoctamin 3 umls:C3554374 DYSTONIA 24 0.410283504570094 2 GeneticVariation BeFree, CLINVAR, UNIPROT 81794 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 umls:C1869114 WEILL-MARCHESANI SYNDROME 1 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 51091 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase umls:C3151140 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 54938 SARS2 seryl-tRNA synthetase 2, mitochondrial umls:C3151209 HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS 0.410283504570094 2 GeneticVariation BeFree, CLINVAR, UNIPROT 55906 ZC4H2 zinc finger, C4H2 domain containing umls:C0796200 Wieacker syndrome 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 8891 EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa umls:C1858991 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 0.410283504570094 4 GeneticVariation BeFree, CLINVAR, UNIPROT 54476 RNF216 ring finger protein 216 umls:C1859305 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 26249 KLHL3 kelch-like family member 3 umls:C3469605 PSEUDOHYPOALDOSTERONISM, TYPE IID 0.410283504570094 2 GeneticVariation BeFree, CLINVAR, UNIPROT 57217 TTC7A tetratricopeptide repeat domain 7A umls:C0220744 Intestinal Atresia, Multiple 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9487 PIGL phosphatidylinositol glycan anchor biosynthesis, class L umls:C1848392 Zunich neuroectodermal syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 22909 FAN1 FANCD2/FANCI-associated nuclease 1 umls:C3553774 INTERSTITIAL NEPHRITIS, KARYOMEGALIC 0.410283504570094 1 GeneticVariation BeFree, CLINVAR, UNIPROT 57511 COG6 component of oligomeric golgi complex 6 umls:C3553230 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 9935 MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B umls:C2674705 Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, UNIPROT 170691 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 umls:C2750787 Weill-Marchesani-Like Syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8905 AP1S2 adaptor-related protein complex 1, sigma 2 subunit umls:C0796254 Mental retardation, X-linked, syndromic 5 0.410283504570094 3 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 336 APOA2 apolipoprotein A-II umls:C0020445 Hyperlipoproteinemia Type II 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 116519 APOA5 apolipoprotein A-V umls:C0020481 Hyperlipoproteinemia Type V 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0585216 Alpha-Thalassemia Myelodysplasia Syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8313 AXIN2 axin 2 umls:C1837750 Oligodontia-Colorectal Cancer Syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 617 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like umls:C1852372 Mitochondrial Complex III Deficiency 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 729 C6 complement component 6 umls:C2676232 Complement Component 6 Deficiency 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C1835042 Melanoma astrocytoma syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1053 CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon umls:C0398593 Specific Granule Deficiency 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 84342 COG8 component of oligomeric golgi complex 8 umls:C1970021 Congenital Disorder Of Glycosylation, Type IIH 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1290 COL5A2 collagen, type V, alpha 2 umls:C0268335 Ehlers-Danlos syndrome type 1 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1292 COL6A2 collagen, type VI, alpha 2 umls:C1850671 Myosclerosis, Autosomal Recessive 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1376 CPT2 carnitine palmitoyltransferase 2 umls:C1833511 Carnitine Palmitoyltransferase II Deficiency, Infantile 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1825 DSC3 desmocollin 3 umls:C2751292 Hypotrichosis And Recurrent Skin Vesicles 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 128178 EDARADD EDAR-associated death domain umls:C0406702 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8893 EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa umls:C1847967 Vanishing White Matter Leukodystrophy with Ovarian Failure 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 92002 FAM58A family with sequence similarity 58, member A umls:C2678045 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 22868 FASTKD2 FAST kinase domains 2 umls:C0268237 Cytochrome-c Oxidase Deficiency 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 2316 FLNA filamin A, alpha umls:C1846129 Terminal Osseous Dysplasia and Pigmentary Defects 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3239 HOXD13 homeobox D13 umls:C1853137 Brachydactyly-Syndactyly Syndrome 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3028 HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 umls:C1846168 Mental Retardation, X-Linked, Syndromic 10 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3559 IL2RA interleukin 2 receptor, alpha umls:C1853392 Interleukin 2 Receptor, Alpha, Deficiency of 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 56623 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa umls:C1857802 MORM syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 51135 IRAK4 interleukin-1 receptor-associated kinase 4 umls:C1843256 IRAK4 Deficiency 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3659 IRF1 interferon regulatory factor 1 umls:C0038356 Stomach Neoplasms 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3909 LAMA3 laminin, alpha 3 umls:C1328355 Laryngo onycho cutaneous syndrome 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 64327 LMBR1 limb development membrane protein 1 umls:C1868114 POLYDACTYLY, PREAXIAL II 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 64327 LMBR1 limb development membrane protein 1 umls:C1861355 Syndactyly, Type IV 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 55788 LMBRD1 LMBR1 domain containing 1 umls:C1848578 Methylmalonic Aciduria and Homocystinuria, CblF Type 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4487 MSX1 msh homeobox 1 umls:C0406735 Witkop syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4488 MSX2 msh homeobox 2 umls:C1868597 Parietal Foramina With Cleidocranial Dysplasia 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 4598 MVK mevalonate kinase umls:C1867981 Porokeratosis, disseminated superficial actinic 1 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 579 NKX3-2 NK3 homeobox 2 umls:C2750066 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 50814 NSDHL NAD(P) dependent steroid dehydrogenase-like umls:C3151781 CK SYNDROME 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8481 OFD1 oral-facial-digital syndrome 1 umls:C2749019 Joubert Syndrome 10 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 9060 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 umls:C2748515 Spondyloepimetaphyseal Dysplasia, Pakistani Type 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5080 PAX6 paired box 6 umls:C0431401 Aniridia cerebellar ataxia mental deficiency 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8622 PDE8B phosphodiesterase 8B umls:C1836694 Striatal Degeneration, Autosomal Dominant 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 51371 POMP proteasome maturation protein umls:C1866029 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5660 PSAP prosaposin umls:C2673266 Krabbe Disease, Atypical, due to Saposin A Deficiency 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 8643 PTCH2 patched 2 umls:C0025149 Medulloblastoma 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 256297 PTF1A pancreas specific transcription factor, 1a umls:C1836780 Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 5836 PYGL phosphorylase, glycogen, liver umls:C0017925 Glycogen Storage Disease Type VI 0.410283504570094 2 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 343035 RD3 retinal degeneration 3 umls:C1857743 Leber Congenital Amaurosis 12 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6017 RLBP1 retinaldehyde binding protein 1 umls:C0311338 Fundus Albipunctatus 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6023 RMRP RNA component of mitochondrial RNA processing endoribonuclease umls:C1834821 Metaphyseal Dysplasia without Hypotrichosis 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 57167 SALL4 spalt-like transcription factor 4 umls:C1327918 Oculootoradial syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 340024 SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 umls:C0543541 Glycinuria with or without Oxalate Urolithiasis 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 55084 SOBP sine oculis binding protein homolog (Drosophila) umls:C3150924 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 3431 SP110 SP110 nuclear body protein umls:C1856128 Hepatic venoocclusive disease with immunodeficiency 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6891 TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) umls:C1858266 Bare Lymphocyte Syndrome, Type I 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 6892 TAPBP TAP binding protein (tapasin) umls:C1858266 Bare Lymphocyte Syndrome, Type I 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 1678 TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) umls:C1839564 Jensen syndrome 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 26277 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 umls:C1851970 Dyskeratosis Congenita, Autosomal Dominant 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7148 TNXB tenascin XB umls:C0268337 Ehlers-Danlos syndrome type 3 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C3159322 Brachyolmia Type 2 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 51807 TUBA8 tubulin, alpha 8 umls:C2750798 Polymicrogyria With Optic Nerve Hypoplasia 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 7297 TYK2 tyrosine kinase 2 umls:C1969086 Tyrosine Kinase 2 Deficiency 0.410283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, CTD_human 118 ADD1 adducin 1 (alpha) umls:C0020538 Hypertension 0.410280476928371 92 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 164045 HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) umls:C3810376 PREMATURE OVARIAN FAILURE 9 0.41 1 GeneticVariation CLINVAR, UNIPROT 51594 NBAS neuroblastoma amplified sequence umls:C3541319 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 0.41 1 GeneticVariation CLINVAR, UNIPROT 729920 ISPD isoprenoid synthase domain containing umls:C3553330 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 0.41 0 GeneticVariation CLINVAR, UNIPROT 3796 KIF2A kinesin heavy chain member 2A umls:C3809414 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 9197 SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 umls:C3280965 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 0.41 0 GeneticVariation CLINVAR, UNIPROT 375790 AGRN agrin umls:C3808739 MYASTHENIC SYNDROME, CONGENITAL, WITH PRE- AND POSTSYNAPTIC DEFECTS 0.41 3 GeneticVariation CLINVAR, UNIPROT 5193 PEX12 peroxisomal biogenesis factor 12 umls:C3553929 PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 0.41 0 GeneticVariation CLINVAR, UNIPROT 5191 PEX7 peroxisomal biogenesis factor 7 umls:C2749346 Refsum Disease, Adult, 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 1106 CHD2 chromodomain helicase DNA binding protein 2 umls:C3809278 EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 0.41 1 GeneticVariation CLINVAR, UNIPROT 3777 KCNK3 potassium channel, two pore domain subfamily K, member 3 umls:C3809198 PULMONARY HYPERTENSION, PRIMARY, 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 9570 GOSR2 golgi SNAP receptor complex member 2 umls:C3279627 EPILEPSY, PROGRESSIVE MYOCLONIC 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 102 ADAM10 ADAM metallopeptidase domain 10 umls:C3810041 ALZHEIMER DISEASE 18 0.41 0 GeneticVariation CLINVAR, UNIPROT 5826 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 umls:C3553915 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 0.41 1 GeneticVariation CLINVAR, UNIPROT 7015 TERT telomerase reverse transcriptase umls:C3553617 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 0.41 0 GeneticVariation CLINVAR, UNIPROT 2563 GABRD gamma-aminobutyric acid (GABA) A receptor, delta umls:C2751603 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 0.41 1 GeneticVariation CLINVAR, UNIPROT 1200 TPP1 tripeptidyl peptidase I umls:C1836474 Spinocerebellar Ataxia, Autosomal Recessive 7 0.41 0 GeneticVariation CLINVAR, UNIPROT 23495 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B umls:C3150354 IMMUNODEFICIENCY, COMMON VARIABLE, 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 10295 BCKDK branched chain ketoacid dehydrogenase kinase umls:C3554078 BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY 0.41 2 GeneticVariation CLINVAR, UNIPROT 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C1845546 FG SYNDROME 4 0.41 0 GeneticVariation CLINVAR, UNIPROT 27089 UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa umls:C3554607 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 6862 T T, brachyury homolog (mouse) umls:C3810343 SACRAL AGENESIS WITH VERTEBRAL ANOMALIES 0.41 1 GeneticVariation CLINVAR, UNIPROT 4093 SMAD9 SMAD family member 9 umls:C1423690 PULMONARY HYPERTENSION, PRIMARY, 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 1193 CLIC2 chloride intracellular channel 2 umls:C3550913 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 0.41 1 GeneticVariation CLINVAR, UNIPROT 2189 FANCG Fanconi anemia, complementation group G umls:C1333532 FANCG GENE 0.41 1 GeneticVariation CLINVAR, UNIPROT 7098 TLR3 toll-like receptor 3 umls:C2751803 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 726 CAPN5 calpain 5 umls:C1860404 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY 0.41 1 GeneticVariation CLINVAR, UNIPROT 9841 ZBTB24 zinc finger and BTB domain containing 24 umls:C3279748 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 8823 FGF16 fibroblast growth factor 16 umls:C1839728 Metacarpal 4 5 Fusion 0.41 1 GeneticVariation CLINVAR, UNIPROT 284403 WDR62 WD repeat domain 62 umls:C1858535 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS 0.41 3 GeneticVariation CLINVAR, UNIPROT 8867 SYNJ1 synaptojanin 1 umls:C3809824 PARKINSON DISEASE 20, EARLY-ONSET 0.41 1 GeneticVariation CLINVAR, UNIPROT 51360 MBTPS2 membrane-bound transcription factor peptidase, site 2 umls:C3806745 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED 0.41 0 GeneticVariation CLINVAR, UNIPROT 11041 B4GAT1 beta-1,4-glucuronyltransferase 1 umls:C3809042 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 0.41 1 GeneticVariation CLINVAR, UNIPROT 4091 SMAD6 SMAD family member 6 umls:C3542024 AORTIC VALVE DISEASE 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 11019 LIAS lipoic acid synthetase umls:C3280887 PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY 0.41 1 GeneticVariation CLINVAR, UNIPROT 3420 IDH3B isocitrate dehydrogenase 3 (NAD+) beta umls:C2675496 Retinitis Pigmentosa 46 0.41 1 GeneticVariation CLINVAR, UNIPROT 10749 KIF1C kinesin family member 1C umls:C1969796 Ataxia, Spastic, 2, Autosomal Recessive 0.41 1 GeneticVariation CLINVAR, UNIPROT 5000 ORC4 origin recognition complex, subunit 4 umls:C3151097 MEIER-GORLIN SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 5885 RAD21 RAD21 homolog (S. pombe) umls:C3553517 CORNELIA DE LANGE SYNDROME 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 8822 FGF17 fibroblast growth factor 17 umls:C3808983 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA 0.41 1 GeneticVariation CLINVAR, UNIPROT 3800 KIF5C kinesin family member 5C umls:C3809013 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 5192 PEX10 peroxisomal biogenesis factor 10 umls:C3553948 PEROXISOME BIOGENESIS DISORDER 6B 0.41 1 GeneticVariation CLINVAR, UNIPROT 10060 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 umls:C3279695 ATRIAL FIBRILLATION, FAMILIAL, 12 0.41 0 GeneticVariation CLINVAR, UNIPROT 6327 SCN2B sodium channel, voltage gated, type II beta subunit umls:C3809312 ATRIAL FIBRILLATION, FAMILIAL, 14 0.41 1 GeneticVariation CLINVAR, UNIPROT 10049 DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 umls:C3148763 Muscular Dystrophy, Limb-Girdle, Type 1E 0.41 2 GeneticVariation CLINVAR, UNIPROT 6253 RTN2 reticulon 2 umls:C1858106 Spastic paraplegia 12, autosomal dominant 0.41 1 GeneticVariation CLINVAR, UNIPROT 8575 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator umls:C2677567 Dystonia 16 0.41 1 GeneticVariation CLINVAR, UNIPROT 51364 ZMYND10 zinc finger, MYND-type containing 10 umls:C3809543 CILIARY DYSKINESIA, PRIMARY, 22 0.41 2 GeneticVariation CLINVAR, UNIPROT 10518 CIB2 calcium and integrin binding family member 2 umls:C1836199 Deafness, Autosomal Recessive 48 0.41 0 GeneticVariation CLINVAR, UNIPROT 9420 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 umls:C1849115 Spastic Paraplegia 5a, Autosomal Recessive 0.41 1 GeneticVariation CLINVAR, UNIPROT 6731 SRP72 signal recognition particle 72kDa umls:C3808553 BONE MARROW FAILURE SYNDROME 1 0.41 1 GeneticVariation CLINVAR, UNIPROT 8818 DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit umls:C3554385 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu 0.41 1 GeneticVariation CLINVAR, UNIPROT 57449 PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 umls:C3809309 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C 0.41 0 GeneticVariation CLINVAR, UNIPROT 23259 DDHD2 DDHD domain containing 2 umls:C3539495 SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE 0.41 1 GeneticVariation CLINVAR, UNIPROT 24148 PRPF6 pre-mRNA processing factor 6 umls:C3151434 RETINITIS PIGMENTOSA 60 0.41 1 GeneticVariation CLINVAR, UNIPROT 22995 CEP152 centrosomal protein 152kDa umls:C3151187 SECKEL SYNDROME 5 0.41 0 GeneticVariation CLINVAR, UNIPROT 22995 CEP152 centrosomal protein 152kDa umls:C3553886 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 0.41 0 GeneticVariation CLINVAR, UNIPROT 8912 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit umls:C2749872 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 368 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 umls:C3276161 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 8622 PDE8B phosphodiesterase 8B umls:C3280094 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 10667 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial umls:C3554168 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 0.41 2 GeneticVariation CLINVAR, UNIPROT 23556 PIGN phosphatidylinositol glycan anchor biosynthesis, class N umls:C3279775 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 0.41 1 GeneticVariation CLINVAR, UNIPROT 111 ADCY5 adenylate cyclase 5 umls:C1847627 Dyskinesia, Familial, with Facial Myokymia 0.41 1 GeneticVariation CLINVAR, UNIPROT 9427 ECEL1 endothelin converting enzyme-like 1 umls:C3554415 ARTHROGRYPOSIS, DISTAL, TYPE 5D 0.41 4 GeneticVariation CLINVAR, UNIPROT 8924 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 umls:C3809753 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 0.41 1 GeneticVariation CLINVAR, UNIPROT 9531 BAG3 BCL2-associated athanogene 3 umls:C3151293 CARDIOMYOPATHY, DILATED, 1HH 0.41 0 GeneticVariation CLINVAR, UNIPROT 9131 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 umls:C0795910 Cowchock syndrome 0.41 0 GeneticVariation CLINVAR, UNIPROT 343641 TGM6 transglutaminase 6 umls:C1539956 TRANSGLUTAMINASE 6 0.41 2 GeneticVariation CLINVAR, UNIPROT 30008 EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 umls:C3280798 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 0.41 3 GeneticVariation CLINVAR, UNIPROT 4338 MOCS2 molybdenum cofactor synthesis 2 umls:C1854989 Molybdenum Cofactor Deficiency, Complementation Group B 0.41 2 GeneticVariation CLINVAR, UNIPROT 4514 COX3 cytochrome c oxidase III umls:C0917796 Optic Atrophy, Hereditary, Leber 0.41 1 GeneticVariation CLINVAR, UNIPROT 629 CFB complement factor B umls:C2752038 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 0.41 2 GeneticVariation CLINVAR, UNIPROT 718 C3 complement component 3 umls:C2752037 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 0.41 0 GeneticVariation CLINVAR, UNIPROT 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C3809005 CARDIOFACIOCUTANEOUS SYNDROME 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C3809645 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 3514 IGKC immunoglobulin kappa constant umls:C3279824 Kappa-Chain Deficiency 0.41 1 GeneticVariation CLINVAR, UNIPROT 1409 CRYAA crystallin, alpha A umls:C1858679 Cataract, Autosomal Dominant 0.41 5 GeneticVariation CLINVAR, UNIPROT 1410 CRYAB crystallin, alpha B umls:C3554649 CARDIOMYOPATHY, DILATED, 1II 0.41 0 GeneticVariation CLINVAR, UNIPROT 3861 KRT14 keratin 14, type I umls:C0080333 Weber-Cockayne syndrome 0.41 0 GeneticVariation CLINVAR, UNIPROT 3853 KRT6A keratin 6A, type II umls:C3714948 PACHYONYCHIA CONGENITA 3 0.41 9 GeneticVariation CLINVAR, UNIPROT 345 APOC3 apolipoprotein C-III umls:C3151467 Apolipoprotein C-III Deficiency 0.41 1 GeneticVariation CLINVAR, UNIPROT 1134 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) umls:C0751885 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL 0.41 0 GeneticVariation CLINVAR, UNIPROT 713 C1QB complement component 1, q subcomponent, B chain umls:C3150902 C1q DEFICIENCY 0.41 1 GeneticVariation CLINVAR, UNIPROT 714 C1QC complement component 1, q subcomponent, C chain umls:C3150902 C1q DEFICIENCY 0.41 1 GeneticVariation CLINVAR, UNIPROT 735 C9 complement component 9 umls:C3810042 MACULAR DEGENERATION, AGE-RELATED, 15 0.41 0 GeneticVariation CLINVAR, UNIPROT 5950 RBP4 retinol binding protein 4, plasma umls:C3554593 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 0.41 1 GeneticVariation CLINVAR, UNIPROT 4536 ND2 MTND2 umls:C0917796 Optic Atrophy, Hereditary, Leber 0.41 0 GeneticVariation CLINVAR, UNIPROT 4538 ND4 NADH dehydrogenase, subunit 4 (complex I) umls:C0162671 MELAS Syndrome 0.41 0 GeneticVariation CLINVAR, UNIPROT 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C2674321 Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 0.41 0 GeneticVariation CLINVAR, UNIPROT 3273 HRG histidine-rich glycoprotein umls:C2751090 THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY 0.41 2 GeneticVariation CLINVAR, UNIPROT 3854 KRT6B keratin 6B, type II umls:C3714949 PACHYONYCHIA CONGENITA 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 10382 TUBB4A tubulin, beta 4A class IVa umls:C1851943 Dystonia musculorum deformans 4 0.41 0 GeneticVariation CLINVAR, UNIPROT 10382 TUBB4A tubulin, beta 4A class IVa umls:C2676244 Leukodystrophy, Hypomyelinating, 6 0.41 0 GeneticVariation CLINVAR, UNIPROT 7471 WNT1 wingless-type MMTV integration site family, member 1 umls:C3808844 OSTEOGENESIS IMPERFECTA, TYPE XV 0.41 0 GeneticVariation CLINVAR, UNIPROT 1536 CYBB cytochrome b-245, beta polypeptide umls:C1970859 Atypical Mycobacteriosis, Familial, X-Linked 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 3426 CFI complement factor I umls:C2752039 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 0.41 0 GeneticVariation CLINVAR, UNIPROT 1906 EDN1 endothelin 1 umls:C3810332 AURICULOCONDYLAR SYNDROME 3 0.41 0 GeneticVariation CLINVAR, UNIPROT 7056 THBD thrombomodulin umls:C2752036 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 0.41 0 GeneticVariation CLINVAR, UNIPROT 5627 PROS1 protein S (alpha) umls:C3281092 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 0.41 0 GeneticVariation CLINVAR, UNIPROT 1436 CSF1R colony stimulating factor 1 receptor umls:C1857300 Gliosis, Familial Progressive Subcortical 0.41 2 GeneticVariation CLINVAR, UNIPROT 5216 PFN1 profilin 1 umls:C3553719 AMYOTROPHIC LATERAL SCLEROSIS 18 0.41 1 GeneticVariation CLINVAR, UNIPROT 440 ASNS asparagine synthetase (glutamine-hydrolyzing) umls:C3809971 ASPARAGINE SYNTHETASE DEFICIENCY 0.41 1 GeneticVariation CLINVAR, UNIPROT 1284 COL4A2 collagen, type IV, alpha 2 umls:C3280970 PORENCEPHALY 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 1537 CYC1 cytochrome c-1 umls:C3809553 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 2214 FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) umls:C3810342 IMMUNODEFICIENCY 20 0.41 1 GeneticVariation CLINVAR, UNIPROT 11222 MRPL3 mitochondrial ribosomal protein L3 umls:C3281234 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 0.41 1 GeneticVariation CLINVAR, UNIPROT 2775 GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O umls:C3809606 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 0.41 1 GeneticVariation CLINVAR, UNIPROT 5159 PDGFRB platelet-derived growth factor receptor, beta polypeptide umls:C3554321 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 0.41 0 GeneticVariation CLINVAR, UNIPROT 3178 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 umls:C3809469 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 0.41 0 GeneticVariation CLINVAR, UNIPROT 3178 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 umls:C3715156 AMYOTROPHIC LATERAL SCLEROSIS 20 0.41 0 GeneticVariation CLINVAR, UNIPROT 7345 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) umls:C3809665 NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET 0.41 0 GeneticVariation CLINVAR, UNIPROT 7025 NR2F1 nuclear receptor subfamily 2, group F, member 1 umls:C3810363 BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME 0.41 1 GeneticVariation CLINVAR, UNIPROT 7043 TGFB3 transforming growth factor, beta 3 umls:C3810012 RIENHOFF SYNDROME 0.41 1 GeneticVariation CLINVAR, UNIPROT 5949 RBP3 retinol binding protein 3, interstitial umls:C3715216 RETINITIS PIGMENTOSA 66 0.41 1 GeneticVariation CLINVAR, UNIPROT 5915 RARB retinoic acid receptor, beta umls:C3809803 MICROPHTHALMIA, SYNDROMIC 12 0.41 1 GeneticVariation CLINVAR, UNIPROT 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C1832855 Choreoathetosis/Spasticity, Episodic 0.41 0 GeneticVariation CLINVAR, UNIPROT 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C3553859 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 0.41 0 GeneticVariation CLINVAR, UNIPROT 1140 CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) umls:C0751885 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL 0.41 2 GeneticVariation CLINVAR, UNIPROT 2539 G6PD glucose-6-phosphate dehydrogenase umls:C2720289 Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency 0.41 4 GeneticVariation CLINVAR, UNIPROT 3035 HARS histidyl-tRNA synthetase umls:C3281066 USHER SYNDROME, TYPE IIIB 0.41 1 GeneticVariation CLINVAR, UNIPROT 87 ACTN1 actinin, alpha 1 umls:C3554663 BLEEDING DISORDER, PLATELET-TYPE, 15 0.41 2 GeneticVariation CLINVAR, UNIPROT 7374 UNG uracil-DNA glycosylase umls:C1720958 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 649 BMP1 bone morphogenetic protein 1 umls:C3553887 OSTEOGENESIS IMPERFECTA, TYPE XIII 0.41 3 GeneticVariation CLINVAR, UNIPROT 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C3279791 SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO 0.41 0 GeneticVariation CLINVAR, UNIPROT 478 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide umls:C3553788 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 1938 EEF2 eukaryotic translation elongation factor 2 umls:C1836395 Spinocerebellar ataxia 26 0.41 1 GeneticVariation CLINVAR, UNIPROT 54 ACP5 acid phosphatase 5, tartrate resistant umls:C1842763 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 0.41 2 GeneticVariation CLINVAR, UNIPROT 3211 HOXB1 homeobox B1 umls:C3553625 FACIAL PARESIS, HEREDITARY CONGENITAL, 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C3810400 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 0.41 0 GeneticVariation CLINVAR, UNIPROT 1615 DARS aspartyl-tRNA synthetase umls:C3809008 HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 0.41 1 GeneticVariation CLINVAR, UNIPROT 3248 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) umls:C1861514 DIGITAL CLUBBING, ISOLATED CONGENITAL 0.41 0 GeneticVariation CLINVAR, UNIPROT 4179 CD46 CD46 molecule, complement regulatory protein umls:C2752040 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 0.41 4 GeneticVariation CLINVAR, UNIPROT 3543 IGLL1 immunoglobulin lambda-like polypeptide 1 umls:C3150750 AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE 0.41 1 GeneticVariation CLINVAR, UNIPROT 5075 PAX1 paired box 1 umls:C3714942 OTOFACIOCERVICAL SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 1123 CHN1 chimerin 1 umls:C0751083 DUANE RETRACTION SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 5618 PRLR prolactin receptor umls:C3809918 MULTIPLE FIBROADENOMAS OF THE BREAST 0.41 0 GeneticVariation CLINVAR, UNIPROT 5145 PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha umls:C3151139 RETINITIS PIGMENTOSA 43 0.41 2 GeneticVariation CLINVAR, UNIPROT 5336 PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) umls:C3553961 AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED 0.41 1 GeneticVariation CLINVAR, UNIPROT 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C1843244 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 7490 WT1 Wilms tumor 1 umls:C1837026 Meacham Syndrome 0.41 0 GeneticVariation CLINVAR, UNIPROT 4117 MAK male germ cell-associated kinase umls:C3280042 RETINITIS PIGMENTOSA 62 0.41 1 GeneticVariation CLINVAR, UNIPROT 3614 IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 umls:C1840284 Leber Congenital Amaurosis 11 0.41 0 GeneticVariation CLINVAR, UNIPROT 2316 FLNA filamin A, alpha umls:C1845902 FG SYNDROME 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C3554241 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 0.41 0 GeneticVariation CLINVAR, UNIPROT 2819 GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) umls:C3280953 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 0.41 1 GeneticVariation CLINVAR, UNIPROT 6915 TBXA2R thromboxane A2 receptor umls:C3279614 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO 0.41 1 GeneticVariation CLINVAR, UNIPROT 2263 FGFR2 fibroblast growth factor receptor 2 umls:C3281247 BENT BONE DYSPLASIA SYNDROME 0.41 0 GeneticVariation CLINVAR, UNIPROT 5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 umls:C3809781 COLE DISEASE 0.41 0 GeneticVariation CLINVAR, UNIPROT 3181 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 umls:C3809468 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 7385 UQCRC2 ubiquinol-cytochrome c reductase core protein II umls:C3554608 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 7507 XPA xeroderma pigmentosum, complementation group A umls:C1337030 XPA GENE 0.41 4 GeneticVariation CLINVAR, UNIPROT 7283 TUBG1 tubulin, gamma 1 umls:C3809420 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 4618 MYF6 myogenic factor 6 (herculin) umls:C3280703 MYOPATHY, CENTRONUCLEAR, 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 191 AHCY adenosylhomocysteinase umls:C3151058 Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 0.41 2 GeneticVariation CLINVAR, UNIPROT 2624 GATA2 GATA binding protein 2 umls:C3280030 IMMUNODEFICIENCY 21 0.41 0 GeneticVariation CLINVAR, UNIPROT 3371 TNC tenascin C umls:C3810170 DEAFNESS, AUTOSOMAL DOMINANT 56 0.41 1 GeneticVariation CLINVAR, UNIPROT 4359 MPZ myelin protein zero umls:C0205713 Hereditary areflexic dystasia 0.41 0 GeneticVariation CLINVAR, UNIPROT 498 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle umls:C3808899 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 0.41 0 GeneticVariation CLINVAR, UNIPROT 958 CD40 CD40 molecule, TNF receptor superfamily member 5 umls:C1720957 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 3675 ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) umls:C3553636 INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 0.41 1 GeneticVariation CLINVAR, UNIPROT 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C3279885 Hereditary Sensory and Autonomic Neuropathy Type Ie 0.41 0 GeneticVariation CLINVAR, UNIPROT 6134 RPL10 ribosomal protein L10 umls:C3275438 AUTISM, SUSCEPTIBILITY TO, X-LINKED 5 0.41 2 GeneticVariation CLINVAR, UNIPROT 5828 PEX2 peroxisomal biogenesis factor 2 umls:C3542026 PEROXISOME BIOGENESIS DISORDER 5B 0.41 1 GeneticVariation CLINVAR, UNIPROT 5424 POLD1 polymerase (DNA directed), delta 1, catalytic subunit umls:C2675481 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 0.41 2 GeneticVariation CLINVAR, UNIPROT 2562 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 umls:C2677087 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 6870 TACR3 tachykinin receptor 3 umls:C3553844 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 0.41 2 GeneticVariation CLINVAR, UNIPROT 1259 CNGA1 cyclic nucleotide gated channel alpha 1 umls:C3151059 RETINITIS PIGMENTOSA 49 0.41 1 GeneticVariation CLINVAR, UNIPROT 2767 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) umls:C1840347 Hypocalciuric hypercalcemia, familial, type 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 2767 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) umls:C3809243 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 6389 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) umls:C3279992 PARAGANGLIOMAS 5 0.41 0 GeneticVariation CLINVAR, UNIPROT 11151 CORO1A coronin, actin binding protein, 1A umls:C3809383 IMMUNODEFICIENCY 8 0.41 1 GeneticVariation CLINVAR, UNIPROT 5015 OTX2 orthodenticle homeobox 2 umls:C3151440 PITUITARY HORMONE DEFICIENCY, COMBINED, 6 0.41 0 GeneticVariation CLINVAR, UNIPROT 5831 PYCR1 pyrroline-5-carboxylate reductase 1 umls:C3280799 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 0.41 0 GeneticVariation CLINVAR, UNIPROT 763 CA5A carbonic anhydrase VA, mitochondrial umls:C3810404 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 0.41 1 GeneticVariation CLINVAR, UNIPROT 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C3554449 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 0.41 0 GeneticVariation CLINVAR, UNIPROT 2200 FBN1 fibrillin 1 umls:C3280054 GELEOPHYSIC DYSPLASIA 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C1863659 DEAFNESS, AUTOSOMAL DOMINANT 17 0.41 0 GeneticVariation CLINVAR, UNIPROT 2521 FUS FUS RNA binding protein umls:C1842675 AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 0.41 0 GeneticVariation CLINVAR, UNIPROT 2521 FUS FUS RNA binding protein umls:C3539195 TREMOR, HEREDITARY ESSENTIAL, 4 0.41 0 GeneticVariation CLINVAR, UNIPROT 2702 GJA5 gap junction protein, alpha 5, 40kDa umls:C3279693 ATRIAL FIBRILLATION, FAMILIAL, 11 0.41 0 GeneticVariation CLINVAR, UNIPROT 5605 MAP2K2 mitogen-activated protein kinase kinase 2 umls:C3809007 CARDIOFACIOCUTANEOUS SYNDROME 4 0.41 3 GeneticVariation CLINVAR, UNIPROT 5236 PGM1 phosphoglucomutase 1 umls:C3554056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It 0.41 1 GeneticVariation CLINVAR, UNIPROT 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C1860896 Colorectal Cancer, Hereditary Nonpolyposis, Type 6 0.41 0 GeneticVariation CLINVAR, UNIPROT 5277 PIGA phosphatidylinositol glycan anchor biosynthesis, class A umls:C3275508 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 2774 GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type umls:C3554447 DYSTONIA 25 0.41 1 GeneticVariation CLINVAR, UNIPROT 1650 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) umls:C3281084 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir 0.41 1 GeneticVariation CLINVAR, UNIPROT 5322 PLA2G5 phospholipase A2, group V umls:C1856718 Fleck Retina, Familial Benign 0.41 1 GeneticVariation CLINVAR, UNIPROT 846 CASR calcium-sensing receptor umls:C2752062 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 0.41 0 GeneticVariation CLINVAR, UNIPROT 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C3151088 MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE 0.41 0 GeneticVariation CLINVAR, UNIPROT 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C3279990 CANDIDIASIS, FAMILIAL, 7 0.41 0 GeneticVariation CLINVAR, UNIPROT 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C1865285 Megalencephaly cutis marmorata telangiectatica congenita 0.41 0 GeneticVariation CLINVAR, UNIPROT 1889 ECE1 endothelin converting enzyme 1 umls:C3151237 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 0.41 1 GeneticVariation CLINVAR, UNIPROT 8200 GDF5 growth differentiation factor 5 umls:C3809104 SYMPHALANGISM, PROXIMAL, 1B 0.41 0 GeneticVariation CLINVAR, UNIPROT 2626 GATA4 GATA binding protein 4 umls:C3280777 VENTRICULAR SEPTAL DEFECT 1 0.41 0 GeneticVariation CLINVAR, UNIPROT 2626 GATA4 GATA binding protein 4 umls:C3280781 ATRIOVENTRICULAR SEPTAL DEFECT 4 0.41 0 GeneticVariation CLINVAR, UNIPROT 2626 GATA4 GATA binding protein 4 umls:C3809858 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE 0.41 0 GeneticVariation CLINVAR, UNIPROT 3703 STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic) umls:C3810062 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw 0.41 1 GeneticVariation CLINVAR, UNIPROT 5995 RGR retinal G protein coupled receptor umls:C3151068 RETINITIS PIGMENTOSA 44 0.41 1 GeneticVariation CLINVAR, UNIPROT 220 ALDH1A3 aldehyde dehydrogenase 1 family, member A3 umls:C3554524 MICROPHTHALMIA, ISOLATED 8 0.41 6 GeneticVariation CLINVAR, UNIPROT 3762 KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5 umls:C3150933 HYPERALDOSTERONISM, FAMILIAL, TYPE III 0.41 0 GeneticVariation CLINVAR, UNIPROT 286887 KRT6C keratin 6C, type II umls:C3810394 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 0.41 1 GeneticVariation CLINVAR, UNIPROT 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C3150909 D-2-HYDROXYGLUTARIC ACIDURIA 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 7319 UBE2A ubiquitin-conjugating enzyme E2A umls:C3275464 MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 0.41 1 GeneticVariation CLINVAR, UNIPROT 23438 HARS2 histidyl-tRNA synthetase 2, mitochondrial umls:C3554105 PERRAULT SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 10664 CTCF CCCTC-binding factor (zinc finger protein) umls:C3809686 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 0.41 1 GeneticVariation CLINVAR, UNIPROT 953 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 umls:C3810289 SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE 0.41 1 GeneticVariation CLINVAR, UNIPROT 4323 MMP14 matrix metallopeptidase 14 (membrane-inserted) umls:C0432289 Winchester syndrome 0.41 1 GeneticVariation CLINVAR, UNIPROT 871 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) umls:C3151211 OSTEOGENESIS IMPERFECTA, TYPE X 0.41 1 GeneticVariation CLINVAR, UNIPROT 1785 DNM2 dynamin 2 umls:C3809272 LETHAL CONGENITAL CONTRACTURE SYNDROME 5 0.41 0 GeneticVariation CLINVAR, UNIPROT 987 LRBA LPS-responsive vesicle trafficking, beach and anchor containing umls:C3553512 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 0.41 1 GeneticVariation CLINVAR, UNIPROT 5333 PLCD1 phospholipase C, delta 1 umls:C0544855 Leukonychia totalis 0.41 1 GeneticVariation CLINVAR, UNIPROT 1763 DNA2 DNA replication helicase/nuclease 2 umls:C3554599 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 6597 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 umls:C3553249 MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 0.41 1 GeneticVariation CLINVAR, UNIPROT 3054 HCFC1 host cell factor C1 umls:C0796208 Mental Retardation, X-Linked 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 1181 CLCN2 chloride channel, voltage-sensitive 2 umls:C3810242 LEUKOENCEPHALOPATHY WITH ATAXIA 0.41 1 GeneticVariation CLINVAR, UNIPROT 6197 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 umls:C0796225 Mental Retardation, X-Linked 19 0.41 0 GeneticVariation CLINVAR, UNIPROT 8526 DGKE diacylglycerol kinase, epsilon 64kDa umls:C3554330 NEPHROTIC SYNDROME, TYPE 7 0.41 1 GeneticVariation CLINVAR, UNIPROT 2956 MSH6 mutS homolog 6 umls:C1833477 Colorectal Cancer, Hereditary Nonpolyposis, Type 5 0.41 3 GeneticVariation CLINVAR, UNIPROT 1646 AKR1C2 aldo-keto reductase family 1, member C2 umls:C1839840 Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase 0.41 1 GeneticVariation CLINVAR, UNIPROT 1482 NKX2-5 NK2 homeobox 5 umls:C3280785 VENTRICULAR SEPTAL DEFECT 3 0.41 0 GeneticVariation CLINVAR, UNIPROT 8516 ITGA8 integrin, alpha 8 umls:C1619700 Renal Adysplasia 0.41 1 GeneticVariation CLINVAR, UNIPROT 4901 NRL neural retina leucine zipper umls:C1834329 Retinitis Pigmentosa 27 0.41 0 GeneticVariation CLINVAR, UNIPROT 5832 ALDH18A1 aldehyde dehydrogenase 18 family, member A1 umls:C0268354 De Barsy syndrome 0.41 2 GeneticVariation CLINVAR, UNIPROT 362 AQP5 aquaporin 5 umls:C1838359 Diffuse palmoplantar keratoderma, Bothnian type 0.41 1 GeneticVariation CLINVAR, UNIPROT 7415 VCP valosin containing protein umls:C3151403 AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 0.41 0 GeneticVariation CLINVAR, UNIPROT 132 ADK adenosine kinase umls:C3280381 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 0.41 1 GeneticVariation CLINVAR, UNIPROT 103 ADAR adenosine deaminase, RNA-specific umls:C3539013 AICARDI-GOUTIERES SYNDROME 6 0.41 0 GeneticVariation CLINVAR, UNIPROT 3913 LAMB2 laminin, beta 2 (laminin S) umls:C3280113 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 0.41 0 GeneticVariation CLINVAR, UNIPROT 1749 DLX5 distal-less homeobox 5 umls:C1857344 Split-Hand/Foot Malformation With Sensorineural Hearing Loss 0.41 1 GeneticVariation CLINVAR, UNIPROT 4141 MARS methionyl-tRNA synthetase umls:C3809651 INFANTILE LIVER FAILURE SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 8504 PEX3 peroxisomal biogenesis factor 3 umls:C3553999 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) 0.41 1 GeneticVariation CLINVAR, UNIPROT 7401 CLRN1 clarin 1 umls:C3280041 RETINITIS PIGMENTOSA 61 0.41 0 GeneticVariation CLINVAR, UNIPROT 7167 TPI1 triosephosphate isomerase 1 umls:C1860808 Triosephosphate Isomerase Deficiency 0.41 3 GeneticVariation CLINVAR, UNIPROT 60 ACTB actin, beta umls:C1855722 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 0.41 0 GeneticVariation CLINVAR, UNIPROT 7042 TGFB2 transforming growth factor, beta 2 umls:C3553762 LOEYS-DIETZ SYNDROME 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 801 CALM1 calmodulin 1 (phosphorylase kinase, delta) umls:C3554047 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 6635 SNRPE small nuclear ribonucleoprotein polypeptide E umls:C3554409 HYPOTRICHOSIS 11 0.41 1 GeneticVariation CLINVAR, UNIPROT 71 ACTG1 actin gamma 1 umls:C3281235 BARAITSER-WINTER SYNDROME 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 5723 PSPH phosphoserine phosphatase umls:C1291463 Deficiency of phosphoserine phosphatase 0.41 1 GeneticVariation CLINVAR, UNIPROT 1911 PHC1 polyhomeotic homolog 1 (Drosophila) umls:C3809431 MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE 0.41 1 GeneticVariation CLINVAR, UNIPROT 7355 SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 umls:C3806688 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 0.41 2 GeneticVariation CLINVAR, UNIPROT 10265 IRX5 iroquois homeobox 5 umls:C1970027 Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 0.41 1 GeneticVariation CLINVAR, UNIPROT 8738 CRADD CASP2 and RIPK1 domain containing adaptor with death domain umls:C3281044 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34 0.41 1 GeneticVariation CLINVAR, UNIPROT 4604 MYBPC1 myosin binding protein C, slow type umls:C3280526 ARTHROGRYPOSIS, DISTAL, TYPE 1B 0.41 1 GeneticVariation CLINVAR, UNIPROT 2583 B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 umls:C1836632 Spastic paraplegia 26, autosomal recessive 0.41 1 GeneticVariation CLINVAR, UNIPROT 272 AMPD3 adenosine monophosphate deaminase 3 umls:C2752073 Erythrocyte Amp Deaminase Deficiency 0.41 4 GeneticVariation CLINVAR, UNIPROT 776 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit umls:C3809609 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 0.41 1 GeneticVariation CLINVAR, UNIPROT 3394 IRF8 interferon regulatory factor 8 umls:C3808589 CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT 0.41 0 GeneticVariation CLINVAR, UNIPROT 3394 IRF8 interferon regulatory factor 8 umls:C3808590 MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE 0.41 0 GeneticVariation CLINVAR, UNIPROT 5604 MAP2K1 mitogen-activated protein kinase kinase 1 umls:C3809006 CARDIOFACIOCUTANEOUS SYNDROME 3 0.41 2 GeneticVariation CLINVAR, UNIPROT 1981 EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 umls:C3280271 PARKINSON DISEASE 18 0.41 1 GeneticVariation CLINVAR, UNIPROT 4853 NOTCH2 notch 2 umls:C1857761 ALAGILLE SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 2902 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 umls:C3280282 MENTAL RETARDATION, AUTOSOMAL DOMINANT 8 0.41 1 GeneticVariation CLINVAR, UNIPROT 3516 RBPJ recombination signal binding protein for immunoglobulin kappa J region umls:C3553748 ADAMS-OLIVER SYNDROME 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 1144 CHRND cholinergic receptor, nicotinic, delta (muscle) umls:C0751885 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL 0.41 0 GeneticVariation CLINVAR, UNIPROT 6324 SCN1B sodium channel, voltage gated, type I beta subunit umls:C3809311 ATRIAL FIBRILLATION, FAMILIAL, 13 0.41 0 GeneticVariation CLINVAR, UNIPROT 5426 POLE polymerase (DNA directed), epsilon, catalytic subunit umls:C3554460 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 0.41 1 GeneticVariation CLINVAR, UNIPROT 1962 EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase umls:C3810100 FANCONI RENOTUBULAR SYNDROME 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 5144 PDE4D phosphodiesterase 4D, cAMP-specific umls:C3553250 ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 0.41 4 GeneticVariation CLINVAR, UNIPROT 54888 NSUN2 NOP2/Sun RNA methyltransferase family, member 2 umls:C1970199 Mental Retardation, Autosomal Recessive 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 91624 NEXN nexilin (F actin binding protein) umls:C3151267 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 0.41 0 GeneticVariation CLINVAR, UNIPROT 6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 umls:C1970200 Mental Retardation, Autosomal Recessive 12 0.41 0 GeneticVariation CLINVAR, UNIPROT 6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 umls:C3554316 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 0.41 0 GeneticVariation CLINVAR, UNIPROT 547 KIF1A kinesin family member 1A umls:C1835896 Spastic Paraplegia 30, Autosomal Recessive 0.41 0 GeneticVariation CLINVAR, UNIPROT 547 KIF1A kinesin family member 1A umls:C3280283 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 0.41 0 GeneticVariation CLINVAR, UNIPROT 6598 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 umls:C3553248 MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 0.41 1 GeneticVariation CLINVAR, UNIPROT 10461 MERTK MER proto-oncogene, tyrosine kinase umls:C3151228 RETINITIS PIGMENTOSA 38 0.41 1 GeneticVariation CLINVAR, UNIPROT 4643 MYO1E myosin IE umls:C3279905 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 80347 COASY CoA synthase umls:C3810230 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 10345 TRDN triadin umls:C3809536 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS 0.41 1 GeneticVariation CLINVAR, UNIPROT 7681 MKRN3 makorin ring finger protein 3 umls:C3809199 PRECOCIOUS PUBERTY, CENTRAL, 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 7187 TRAF3 TNF receptor-associated factor 3 umls:C3553868 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 1161 ERCC8 excision repair cross-complementation group 8 umls:C3553298 UV-SENSITIVE SYNDROME 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 2904 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B umls:C3151411 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 0.41 2 GeneticVariation CLINVAR, UNIPROT 4214 MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase umls:C3151064 46,XY SEX REVERSAL 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C3151406 SPERMATOGENIC FAILURE 8 0.41 0 GeneticVariation CLINVAR, UNIPROT 23530 NNT nicotinamide nucleotide transhydrogenase umls:C3553587 GLUCOCORTICOID DEFICIENCY 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 427 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 umls:C1834569 Jankovic Rivera syndrome 0.41 0 GeneticVariation CLINVAR, UNIPROT 545 ATR ATR serine/threonine kinase umls:C3281203 CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 0.41 1 GeneticVariation CLINVAR, UNIPROT 5190 PEX6 peroxisomal biogenesis factor 6 umls:C3553936 PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 0.41 2 GeneticVariation CLINVAR, UNIPROT 8452 CUL3 cullin 3 umls:C3469606 PSEUDOHYPOALDOSTERONISM, TYPE IIE 0.41 1 GeneticVariation CLINVAR, UNIPROT 7280 TUBB2A tubulin, beta 2A class IIa umls:C3810407 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 5592 PRKG1 protein kinase, cGMP-dependent, type I umls:C3809513 AORTIC ANEURYSM, FAMILIAL THORACIC 8 0.41 1 GeneticVariation CLINVAR, UNIPROT 1258 CNGB1 cyclic nucleotide gated channel beta 1 umls:C3151066 RETINITIS PIGMENTOSA 45 0.41 1 GeneticVariation CLINVAR, UNIPROT 1288 COL4A6 collagen, type IV, alpha 6 umls:C3806737 DEAFNESS, X-LINKED 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 1778 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 umls:C3280220 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 0.41 0 GeneticVariation CLINVAR, UNIPROT 1778 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 umls:C3281202 MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 0.41 0 GeneticVariation CLINVAR, UNIPROT 2318 FLNC filamin C, gamma umls:C3279722 MYOPATHY, DISTAL, 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 10371 SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A umls:C3554021 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 0.41 1 GeneticVariation CLINVAR, UNIPROT 3590 IL11RA interleukin 11 receptor, alpha umls:C3280073 CRANIOSYNOSTOSIS AND DENTAL ANOMALIES 0.41 1 GeneticVariation CLINVAR, UNIPROT 4607 MYBPC3 myosin binding protein C, cardiac umls:C3715165 LEFT VENTRICULAR NONCOMPACTION 10 0.41 0 GeneticVariation CLINVAR, UNIPROT 220296 HEPACAM hepatic and glial cell adhesion molecule umls:C3151355 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A 0.41 0 GeneticVariation CLINVAR, UNIPROT 23395 LARS2 leucyl-tRNA synthetase 2, mitochondrial umls:C3809105 PERRAULT SYNDROME 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 3735 KARS lysyl-tRNA synthetase umls:C3151351 DEAFNESS, AUTOSOMAL RECESSIVE 89 0.41 0 GeneticVariation CLINVAR, UNIPROT 4689 NCF4 neutrophil cytosolic factor 4, 40kDa umls:C3151409 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III 0.41 1 GeneticVariation CLINVAR, UNIPROT 5165 PDK3 pyruvate dehydrogenase kinase, isozyme 3 umls:C3806702 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 5332 PLCB4 phospholipase C, beta 4 umls:C3553404 AURICULOCONDYLAR SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 2066 ERBB4 erb-b2 receptor tyrosine kinase 4 umls:C3715155 AMYOTROPHIC LATERAL SCLEROSIS 19 0.41 1 GeneticVariation CLINVAR, UNIPROT 6499 SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) umls:C3281289 TRICHOHEPATOENTERIC SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 4638 MYLK myosin light chain kinase umls:C3151077 AORTIC ANEURYSM, FAMILIAL THORACIC 7 0.41 1 GeneticVariation CLINVAR, UNIPROT 7700 ZNF141 zinc finger protein 141 umls:C3808889 POLYDACTYLY, POSTAXIAL, TYPE A6 0.41 1 GeneticVariation CLINVAR, UNIPROT 3910 LAMA4 laminin, alpha 4 umls:C3808935 CARDIOMYOPATHY, DILATED, 1JJ 0.41 1 GeneticVariation CLINVAR, UNIPROT 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C3151303 Obesity, Hyperphagia, and Developmental Delay 0.41 1 GeneticVariation CLINVAR, UNIPROT 4340 MOG myelin oligodendrocyte glycoprotein umls:C3280266 NARCOLEPSY 7 0.41 1 GeneticVariation CLINVAR, UNIPROT 492 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 umls:C0796205 Spinocerebellar Ataxia, X-Linked 1 0.41 1 GeneticVariation CLINVAR, UNIPROT 1848 DUSP6 dual specificity phosphatase 6 umls:C3808981 HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA 0.41 1 GeneticVariation CLINVAR, UNIPROT 64423 INF2 inverted formin, FH2 and WH2 domain containing umls:C3280845 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 0.41 0 GeneticVariation CLINVAR, UNIPROT 23090 ZNF423 zinc finger protein 423 umls:C3539071 NEPHRONOPHTHISIS 14 0.41 1 GeneticVariation CLINVAR, UNIPROT 131377 KLHL40 kelch-like family member 40 umls:C3809209 NEMALINE MYOPATHY 8 0.41 1 GeneticVariation CLINVAR, UNIPROT 388551 CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16 umls:C3281297 DEAFNESS, AUTOSOMAL DOMINANT 4B 0.41 1 GeneticVariation CLINVAR, UNIPROT 57654 UVSSA UV-stimulated scaffold protein A umls:C3553328 UV-SENSITIVE SYNDROME 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 345193 LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 umls:C3554399 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F 0.41 1 GeneticVariation CLINVAR, UNIPROT 83544 DNAL1 dynein, axonemal, light chain 1 umls:C3151460 CILIARY DYSKINESIA, PRIMARY, 16 0.41 1 GeneticVariation CLINVAR, UNIPROT 124997 WDR81 WD repeat domain 81 umls:C2750234 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 158326 FREM1 FRAS1 related extracellular matrix 1 umls:C3280974 TRIGONOCEPHALY 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 124454 EARS2 glutamyl-tRNA synthetase 2, mitochondrial umls:C3554079 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 0.41 2 GeneticVariation CLINVAR, UNIPROT 57505 AARS2 alanyl-tRNA synthetase 2, mitochondrial umls:C3279793 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 0.41 0 GeneticVariation CLINVAR, UNIPROT 57582 KCNT1 potassium channel, sodium activated subfamily T, member 1 umls:C3554195 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 0.41 0 GeneticVariation CLINVAR, UNIPROT 57582 KCNT1 potassium channel, sodium activated subfamily T, member 1 umls:C3554306 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 0.41 0 GeneticVariation CLINVAR, UNIPROT 285203 EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase umls:C3809092 ADAMS-OLIVER SYNDROME 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 11023 VAX1 ventral anterior homeobox 1 umls:C3553077 MICROPHTHALMIA, SYNDROMIC 11 0.41 1 GeneticVariation CLINVAR, UNIPROT 83479 DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 umls:C1868118 Orofaciodigital syndrome 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 23590 PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 umls:C3553354 COENZYME Q10 DEFICIENCY, PRIMARY, 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 200205 IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) umls:C3809165 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 55780 ERMARD ER membrane-associated RNA degradation umls:C3809872 PERIVENTRICULAR NODULAR HETEROTOPIA 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 79621 RNASEH2B ribonuclease H2, subunit B umls:C3489724 AICARDI-GOUTIERES SYNDROME 2 0.41 2 GeneticVariation CLINVAR, UNIPROT 57674 RNF213 ring finger protein 213 umls:C1846689 Moyamoya disease 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 203286 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 umls:C3809320 NEPHRONOPHTHISIS 16 0.41 1 GeneticVariation CLINVAR, UNIPROT 25923 ATL3 atlastin GTPase 3 umls:C3810194 NEUROPATHY, HEREDITARY SENSORY, TYPE IF 0.41 1 GeneticVariation CLINVAR, UNIPROT 317719 KLHL10 kelch-like family member 10 umls:C3554453 SPERMATOGENIC FAILURE 11 0.41 1 GeneticVariation CLINVAR, UNIPROT 392255 GDF6 growth differentiation factor 6 umls:C3715164 LEBER CONGENITAL AMAUROSIS 17 0.41 0 GeneticVariation CLINVAR, UNIPROT 26123 TCTN3 tectonic family member 3 umls:C3553758 JOUBERT SYNDROME 18 0.41 1 GeneticVariation CLINVAR, UNIPROT 80185 TTI2 TELO2 interacting protein 2 umls:C3809853 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 0.41 1 GeneticVariation CLINVAR, UNIPROT 6873 TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa umls:C3810080 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 0.41 1 GeneticVariation CLINVAR, UNIPROT 81545 FBXO38 F-box protein 38 umls:C3711384 Distal Hereditary Motor Neuropathy, Type Ii 0.41 1 GeneticVariation CLINVAR, UNIPROT 440435 GPR179 G protein-coupled receptor 179 umls:C3281215 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 0.41 2 GeneticVariation CLINVAR, UNIPROT 374393 FAM111B family with sequence similarity 111, member B umls:C3810325 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS 0.41 1 GeneticVariation CLINVAR, UNIPROT 79633 FAT4 FAT atypical cadherin 4 umls:C3809875 VAN MALDERGEM SYNDROME 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 55690 PACS1 phosphofurin acidic cluster sorting protein 1 umls:C3554343 MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 0.41 1 GeneticVariation CLINVAR, UNIPROT 26012 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor umls:C3553842 HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA 0.41 2 GeneticVariation CLINVAR, UNIPROT 25778 DSTYK dual serine/threonine and tyrosine protein kinase umls:C1835826 Renal Hypodysplasia, Nonsyndromic, 1 0.41 1 GeneticVariation CLINVAR, UNIPROT 340990 OTOG otogelin umls:C3554163 DEAFNESS, AUTOSOMAL RECESSIVE 18B 0.41 1 GeneticVariation CLINVAR, UNIPROT 219736 STOX1 storkhead box 1 umls:C1836255 Preeclampsia Eclampsia 4 0.41 2 GeneticVariation CLINVAR, UNIPROT 1355 COX15 cytochrome c oxidase assembly homolog 15 (yeast) umls:C3554534 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 121391 KRT74 keratin 74, type II umls:C3151432 HYPOTRICHOSIS 3 0.41 0 GeneticVariation CLINVAR, UNIPROT 60684 TRAPPC11 trafficking protein particle complex 11 umls:C3809236 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 0.41 1 GeneticVariation CLINVAR, UNIPROT 166336 PRICKLE2 prickle homolog 2 (Drosophila) umls:C3151194 EPILEPSY, PROGRESSIVE MYOCLONIC 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 55670 PEX26 peroxisomal biogenesis factor 26 umls:C3539168 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) 0.41 0 GeneticVariation CLINVAR, UNIPROT 55670 PEX26 peroxisomal biogenesis factor 26 umls:C3553951 PEROXISOME BIOGENESIS DISORDER 7B 0.41 0 GeneticVariation CLINVAR, UNIPROT 113612 CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1 umls:C3539507 SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 0.41 1 GeneticVariation CLINVAR, UNIPROT 79809 TTC21B tetratricopeptide repeat domain 21B umls:C3151185 SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 0.41 0 GeneticVariation CLINVAR, UNIPROT 79809 TTC21B tetratricopeptide repeat domain 21B umls:C3151186 NEPHRONOPHTHISIS 12 0.41 0 GeneticVariation CLINVAR, UNIPROT 112476 PRRT2 proline-rich transmembrane protein 2 umls:C1853995 Convulsions, Benign Familial Infantile, 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 284086 NEK8 NIMA-related kinase 8 umls:C3151188 NEPHRONOPHTHISIS 9 0.41 1 GeneticVariation CLINVAR, UNIPROT 79947 DHDDS dehydrodolichyl diphosphate synthase umls:C3151227 RETINITIS PIGMENTOSA 59 0.41 1 GeneticVariation CLINVAR, UNIPROT 84665 MYPN myopalladin umls:C3714995 CARDIOMYOPATHY, DILATED, 1KK 0.41 3 GeneticVariation CLINVAR, UNIPROT 25914 RTTN rotatin umls:C3553831 POLYMICROGYRIA WITH SEIZURES 0.41 1 GeneticVariation CLINVAR, UNIPROT 79228 THOC6 THO complex 6 homolog (Drosophila) umls:C3150939 BEAULIEU-BOYCOTT-INNES SYNDROME 0.41 1 GeneticVariation CLINVAR, UNIPROT 23639 LRRC6 leucine rich repeat containing 6 umls:C3543826 CILIARY DYSKINESIA, PRIMARY, 19 0.41 1 GeneticVariation CLINVAR, UNIPROT 54919 DNAAF5 dynein, axonemal, assembly factor 5 umls:C3543825 CILIARY DYSKINESIA, PRIMARY, 18 0.41 1 GeneticVariation CLINVAR, UNIPROT 57107 PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 umls:C3553358 COENZYME Q10 DEFICIENCY, PRIMARY, 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 57534 MIB1 mindbomb E3 ubiquitin protein ligase 1 umls:C3554496 LEFT VENTRICULAR NONCOMPACTION 7 0.41 1 GeneticVariation CLINVAR, UNIPROT 148022 TICAM1 toll-like receptor adaptor molecule 1 umls:C3553869 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 84282 RNF135 ring finger protein 135 umls:C3280095 MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 0.41 1 GeneticVariation CLINVAR, UNIPROT 55214 P3H2 prolyl 3-hydroxylase 2 umls:C3280346 MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 0.41 1 GeneticVariation CLINVAR, UNIPROT 388389 CCDC103 coiled-coil domain containing 103 umls:C3542550 CILIARY DYSKINESIA, PRIMARY, 17 0.41 1 GeneticVariation CLINVAR, UNIPROT 121278 TPH2 tryptophan hydroxylase 2 umls:C2751802 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 0.41 1 GeneticVariation CLINVAR, UNIPROT 79695 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 umls:C1837315 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 0.41 2 GeneticVariation CLINVAR, UNIPROT 10908 PNPLA6 patatin-like phospholipase domain containing 6 umls:C1859093 Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 0.41 0 GeneticVariation CLINVAR, UNIPROT 124404 SEPT12 septin 12 umls:C3553793 SPERMATOGENIC FAILURE 10 0.41 1 GeneticVariation CLINVAR, UNIPROT 259232 NALCN sodium leak channel, non selective umls:C3809454 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 0.41 1 GeneticVariation CLINVAR, UNIPROT 142680 SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 umls:C0342645 Autosomal recessive hypophosphatemic bone disease 0.41 2 GeneticVariation CLINVAR, UNIPROT 147912 SIX5 SIX homeobox 5 umls:C1970479 BRANCHIOOTORENAL SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 51199 NIN ninein (GSK3B interacting protein) umls:C3553870 SECKEL SYNDROME 7 0.41 1 GeneticVariation CLINVAR, UNIPROT 57094 CPA6 carboxypeptidase A6 umls:C3280730 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 0.41 0 GeneticVariation CLINVAR, UNIPROT 57094 CPA6 carboxypeptidase A6 umls:C3280734 FEBRILE SEIZURES, FAMILIAL, 11 0.41 0 GeneticVariation CLINVAR, UNIPROT 8216 LZTR1 leucine-zipper-like transcription regulator 1 umls:C3810283 SCHWANNOMATOSIS 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 3547 IGSF1 immunoglobulin superfamily, member 1 umls:C3550963 HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 0.41 1 GeneticVariation CLINVAR, UNIPROT 285848 PNPLA1 patatin-like phospholipase domain containing 1 umls:C3554355 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 0.41 1 GeneticVariation CLINVAR, UNIPROT 84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) umls:C3553813 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 0.41 1 GeneticVariation CLINVAR, UNIPROT 255928 SYT14 synaptotagmin XIV umls:C3280226 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 0.41 1 GeneticVariation CLINVAR, UNIPROT 148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 umls:C3554638 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 0.41 1 GeneticVariation CLINVAR, UNIPROT 137492 VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) umls:C3539494 SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE 0.41 1 GeneticVariation CLINVAR, UNIPROT 57728 WDR19 WD repeat domain 19 umls:C3280598 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 0.41 0 GeneticVariation CLINVAR, UNIPROT 57728 WDR19 WD repeat domain 19 umls:C3280612 NEPHRONOPHTHISIS 13 0.41 0 GeneticVariation CLINVAR, UNIPROT 57728 WDR19 WD repeat domain 19 umls:C3280616 CRANIOECTODERMAL DYSPLASIA 4 0.41 0 GeneticVariation CLINVAR, UNIPROT 57082 CASC5 cancer susceptibility candidate 5 umls:C1858516 Microcephaly, Primary Autosomal Recessive, 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 133396 IL31RA interleukin 31 receptor A umls:C3151404 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 79753 SNIP1 Smad nuclear interacting protein 1 umls:C3281055 PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM 0.41 1 GeneticVariation CLINVAR, UNIPROT 57709 SLC7A14 solute carrier family 7, member 14 umls:C3810380 RETINITIS PIGMENTOSA 68 0.41 1 GeneticVariation CLINVAR, UNIPROT 87178 PNPT1 polyribonucleotide nucleotidyltransferase 1 umls:C3554129 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 0.41 0 GeneticVariation CLINVAR, UNIPROT 87178 PNPT1 polyribonucleotide nucleotidyltransferase 1 umls:C1824925 DEAFNESS, AUTOSOMAL RECESSIVE 70 0.41 0 GeneticVariation CLINVAR, UNIPROT 23299 BICD2 bicaudal D homolog 2 (Drosophila) umls:C3809049 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT 0.41 3 GeneticVariation CLINVAR, UNIPROT 84720 PIGO phosphatidylinositol glycan anchor biosynthesis, class O umls:C3553637 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 126326 GIPC3 GIPC PDZ domain containing family, member 3 umls:C1866094 Deafness, Autosomal Recessive 15 0.41 2 GeneticVariation CLINVAR, UNIPROT 57798 GATAD1 GATA zinc finger domain containing 1 umls:C3553409 CARDIOMYOPATHY, DILATED, 2B 0.41 1 GeneticVariation CLINVAR, UNIPROT 55112 WDR60 WD repeat domain 60 umls:C3809691 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 0.41 1 GeneticVariation CLINVAR, UNIPROT 51062 ATL1 atlastin GTPase 1 umls:C3150972 NEUROPATHY, HEREDITARY SENSORY, TYPE ID 0.41 0 GeneticVariation CLINVAR, UNIPROT 23533 PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 umls:C3554690 ATAXIA-OCULOMOTOR APRAXIA 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 89765 RSPH1 radial spoke head 1 homolog (Chlamydomonas) umls:C3809634 CILIARY DYSKINESIA, PRIMARY, 24 0.41 1 GeneticVariation CLINVAR, UNIPROT 10342 TFG TRK-fused gene umls:C1858338 Neuropathy, hereditary motor and sensory, Okinawa type 0.41 0 GeneticVariation CLINVAR, UNIPROT 10342 TFG TRK-fused gene umls:C3714897 SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 0.41 0 GeneticVariation CLINVAR, UNIPROT 2072 ERCC4 excision repair cross-complementation group 4 umls:C3808988 FANCONI ANEMIA, COMPLEMENTATION GROUP Q 0.41 0 GeneticVariation CLINVAR, UNIPROT 2627 GATA6 GATA binding protein 6 umls:C3280939 ATRIOVENTRICULAR SEPTAL DEFECT 5 0.41 0 GeneticVariation CLINVAR, UNIPROT 6578 SLCO2A1 solute carrier organic anion transporter family, member 2A1 umls:C3280800 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 0.41 4 GeneticVariation CLINVAR, UNIPROT 6016 RIT1 Ras-like without CAAX 1 umls:C3809233 NOONAN SYNDROME 8 0.41 1 GeneticVariation CLINVAR, UNIPROT 8239 USP9X ubiquitin specific peptidase 9, X-linked umls:C3806746 MENTAL RETARDATION, X-LINKED 99 0.41 1 GeneticVariation CLINVAR, UNIPROT 60681 FKBP10 FK506 binding protein 10, 65 kDa umls:C1850168 Bruck syndrome 1 0.41 1 GeneticVariation CLINVAR, UNIPROT 5002 SLC22A18 solute carrier family 22, member 18 umls:C0684249 Carcinoma of lung 0.41 1 GeneticVariation CLINVAR, UNIPROT 79934 ADCK4 aarF domain containing kinase 4 umls:C3809965 NEPHROTIC SYNDROME, TYPE 9 0.41 1 GeneticVariation CLINVAR, UNIPROT 123263 MTFMT mitochondrial methionyl-tRNA formyltransferase umls:C3554182 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 0.41 2 GeneticVariation CLINVAR, UNIPROT 89891 WDR34 WD repeat domain 34 umls:C3810200 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY 0.41 2 GeneticVariation CLINVAR, UNIPROT 113179 ADAT3 adenosine deaminase, tRNA-specific 3 umls:C3809039 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 0.41 1 GeneticVariation CLINVAR, UNIPROT 84173 ELMOD3 ELMO/CED-12 domain containing 3 umls:C2829267 DEAFNESS, AUTOSOMAL RECESSIVE 88 0.41 1 GeneticVariation CLINVAR, UNIPROT 93210 PGAP3 post-GPI attachment to proteins 3 umls:C3810354 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 55526 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 umls:C1859817 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 0.41 1 GeneticVariation CLINVAR, UNIPROT 29926 GMPPA GDP-mannose pyrophosphorylase A umls:C3809738 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 0.41 1 GeneticVariation CLINVAR, UNIPROT 84839 RAX2 retina and anterior neural fold homeobox 2 umls:C3151060 Macular Degeneration, Age-Related, 6 0.41 0 GeneticVariation CLINVAR, UNIPROT 84947 SERAC1 serine active site containing 1 umls:C3553597 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME 0.41 1 GeneticVariation CLINVAR, UNIPROT 81790 RNF170 ring finger protein 170 umls:C1837015 Ataxia, Sensory, Autosomal Dominant 0.41 1 GeneticVariation CLINVAR, UNIPROT 84466 MEGF10 multiple EGF-like-domains 10 umls:C3280679 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 0.41 1 GeneticVariation CLINVAR, UNIPROT 125972 CALR3 calreticulin 3 umls:C3151266 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19 0.41 1 GeneticVariation CLINVAR, UNIPROT 126792 B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 umls:C0432243 Spondyloepimetaphyseal Dysplasia With Joint Laxity 0.41 0 GeneticVariation CLINVAR, UNIPROT 126792 B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 umls:C3809210 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 201973 PRIMPOL primase and polymerase (DNA-directed) umls:C3809464 MYOPIA 22, AUTOSOMAL DOMINANT 0.41 1 GeneticVariation CLINVAR, UNIPROT 123624 AGBL1 ATP/GTP binding protein-like 1 umls:C3809798 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 0.41 1 GeneticVariation CLINVAR, UNIPROT 157657 C8orf37 chromosome 8 open reading frame 37 umls:C3281045 CONE-ROD DYSTROPHY 16 0.41 1 GeneticVariation CLINVAR, UNIPROT 112744 IL17F interleukin 17F umls:C3151405 CANDIDIASIS, FAMILIAL, 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 55737 VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) umls:C3280133 PARKINSON DISEASE 17 0.41 1 GeneticVariation CLINVAR, UNIPROT 116369 SLC26A8 solute carrier family 26 (anion exchanger), member 8 umls:C1847540 Azoospermia, Nonobstructive 0.41 1 GeneticVariation CLINVAR, UNIPROT 6938 TCF12 transcription factor 12 umls:C3715051 CRANIOSYNOSTOSIS 3 0.41 2 GeneticVariation CLINVAR, UNIPROT 6326 SCN2A sodium channel, voltage gated, type II alpha subunit umls:C1843140 SEIZURES, BENIGN FAMILIAL INFANTILE, 3 0.41 0 GeneticVariation CLINVAR, UNIPROT 113246 C12orf57 chromosome 12 open reading frame 57 umls:C1857512 Temtamy syndrome 0.41 1 GeneticVariation CLINVAR, UNIPROT 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C3280587 AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE 0.41 1 GeneticVariation CLINVAR, UNIPROT 990 CDC6 cell division cycle 6 umls:C3151126 MEIER-GORLIN SYNDROME 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 80776 B9D2 B9 protein domain 2 umls:C3280036 MECKEL SYNDROME, TYPE 10 0.41 1 GeneticVariation CLINVAR, UNIPROT 60528 ELAC2 elaC ribonuclease Z 2 umls:C3539120 PROSTATE CANCER, HEREDITARY, 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 60528 ELAC2 elaC ribonuclease Z 2 umls:C3809526 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 0.41 0 GeneticVariation CLINVAR, UNIPROT 92667 MGME1 mitochondrial genome maintenance exonuclease 1 umls:C3554462 MITOCHONDRIAL DNA DEPLETION SYNDROME 11 0.41 1 GeneticVariation CLINVAR, UNIPROT 79443 FYCO1 FYVE and coiled-coil domain containing 1 umls:C1864908 Cataract, autosomal recessive congenital 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 57158 JPH2 junctophilin 2 umls:C3151264 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 0.41 1 GeneticVariation CLINVAR, UNIPROT 51308 REEP2 receptor accessory protein 2 umls:C3810160 SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE 0.41 1 GeneticVariation CLINVAR, UNIPROT 79188 TMEM43 transmembrane protein 43 umls:C3553060 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 0.41 0 GeneticVariation CLINVAR, UNIPROT 54968 TMEM70 transmembrane protein 70 umls:C3279699 Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 0.41 1 GeneticVariation CLINVAR, UNIPROT 55135 WRAP53 WD repeat containing, antisense to TP53 umls:C3151442 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 79092 CARD14 caspase recruitment domain family, member 14 umls:C1864497 PSORIASIS SUSCEPTIBILITY 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 84433 CARD11 caspase recruitment domain family, member 11 umls:C1847973 Persistent Polyclonal B-Cell Lymphocytosis 0.41 1 GeneticVariation CLINVAR, UNIPROT 57716 PRX periaxin umls:C3540453 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 0.41 1 GeneticVariation CLINVAR, UNIPROT 55869 HDAC8 histone deacetylase 8 umls:C3550903 CORNELIA DE LANGE SYNDROME 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 85358 SHANK3 SH3 and multiple ankyrin repeat domains 3 umls:C3151380 SCHIZOPHRENIA 15 0.41 0 GeneticVariation CLINVAR, UNIPROT 55717 WDR11 WD repeat domain 11 umls:C3540450 HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 0.41 1 GeneticVariation CLINVAR, UNIPROT 22861 NLRP1 NLR family, pyrin domain containing 1 umls:C3808876 CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA 0.41 1 GeneticVariation CLINVAR, UNIPROT 81848 SPRY4 sprouty homolog 4 (Drosophila) umls:C3808971 HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA 0.41 1 GeneticVariation CLINVAR, UNIPROT 23321 TRIM2 tripartite motif containing 2 umls:C3809655 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R 0.41 1 GeneticVariation CLINVAR, UNIPROT 80326 WNT10A wingless-type MMTV integration site family, member 10A umls:C1835492 Tooth Agenesis, Selective, 4 0.41 0 GeneticVariation CLINVAR, UNIPROT 57379 AICDA activation-induced cytidine deaminase umls:C1720956 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 0.41 2 GeneticVariation CLINVAR, UNIPROT 83452 RAB33B RAB33B, member RAS oncogene family umls:C3714896 SMITH-MCCORT DYSPLASIA 2 0.41 2 GeneticVariation CLINVAR, UNIPROT 60529 ALX4 ALX homeobox 4 umls:C3809819 CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO 0.41 0 GeneticVariation CLINVAR, UNIPROT 81620 CDT1 chromatin licensing and DNA replication factor 1 umls:C3151120 MEIER-GORLIN SYNDROME 4 0.41 2 GeneticVariation CLINVAR, UNIPROT 1798 DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) umls:C3553645 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 0.41 0 GeneticVariation CLINVAR, UNIPROT 27010 TPK1 thiamin pyrophosphokinase 1 umls:C3280866 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) 0.41 1 GeneticVariation CLINVAR, UNIPROT 2036 EPB41L1 erythrocyte membrane protein band 4.1-like 1 umls:C3280285 MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 0.41 1 GeneticVariation CLINVAR, UNIPROT 84146 ZNF644 zinc finger protein 644 umls:C3279997 MYOPIA 21, AUTOSOMAL DOMINANT 0.41 1 GeneticVariation CLINVAR, UNIPROT 63895 PIEZO2 piezo-type mechanosensitive ion channel component 2 umls:C1862472 Oculomelic amyoplasia 0.41 0 GeneticVariation CLINVAR, UNIPROT 84197 POMK protein-O-mannose kinase umls:C3808964 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 0.41 1 GeneticVariation CLINVAR, UNIPROT 79583 TMEM231 transmembrane protein 231 umls:C3554235 JOUBERT SYNDROME 20 0.41 0 GeneticVariation CLINVAR, UNIPROT 79583 TMEM231 transmembrane protein 231 umls:C3809352 MECKEL SYNDROME, TYPE 11 0.41 0 GeneticVariation CLINVAR, UNIPROT 65250 C5orf42 chromosome 5 open reading frame 42 umls:C3553264 JOUBERT SYNDROME 17 0.41 1 GeneticVariation CLINVAR, UNIPROT 54805 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 umls:C3151295 HYPOMAGNESEMIA 6, RENAL 0.41 1 GeneticVariation CLINVAR, UNIPROT 65080 MRPL44 mitochondrial ribosomal protein L44 umls:C3809339 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 0.41 1 GeneticVariation CLINVAR, UNIPROT 79581 SLC52A2 solute carrier family 52 (riboflavin transporter), member 2 umls:C3553538 BROWN-VIALETTO-VAN LAERE SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 79783 SUGCT succinyl-CoA:glutarate-CoA transferase umls:C0342873 Glutaric Aciduria III 0.41 1 GeneticVariation CLINVAR, UNIPROT 64802 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 umls:C1837873 Amaurosis congenita of Leber, type 9 0.41 4 GeneticVariation CLINVAR, UNIPROT 54414 SIAE sialic acid acetylesterase umls:C3150797 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 59345 GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 umls:C3554654 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 0.41 1 GeneticVariation CLINVAR, UNIPROT 63976 PRDM16 PR domain containing 16 umls:C3809288 LEFT VENTRICULAR NONCOMPACTION 8 0.41 1 GeneticVariation CLINVAR, UNIPROT 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C1847406 Digital Arthropathy-Brachydactyly, Familial 0.41 0 GeneticVariation CLINVAR, UNIPROT 50615 IL21R interleukin 21 receptor umls:C3554687 IL21R IMMUNODEFICIENCY 0.41 1 GeneticVariation CLINVAR, UNIPROT 55858 TMEM165 transmembrane protein 165 umls:C3553571 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk 0.41 1 GeneticVariation CLINVAR, UNIPROT 60386 SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 umls:C3150973 THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) 0.41 0 GeneticVariation CLINVAR, UNIPROT 57704 GBA2 glucosidase, beta (bile acid) 2 umls:C2828721 SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 0.41 2 GeneticVariation CLINVAR, UNIPROT 51206 GP6 glycoprotein VI (platelet) umls:C3280120 BLEEDING DISORDER, PLATELET-TYPE, 11 0.41 2 GeneticVariation CLINVAR, UNIPROT 57128 LYRM4 LYR motif containing 4 umls:C3810055 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 0.41 1 GeneticVariation CLINVAR, UNIPROT 10058 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) umls:C3281027 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 0.41 0 GeneticVariation CLINVAR, UNIPROT 10058 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) umls:C3809394 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 0.41 0 GeneticVariation CLINVAR, UNIPROT 22931 RAB18 RAB18, member RAS oncogene family umls:C3280203 WARBURG MICRO SYNDROME 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 79868 ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit umls:C3550904 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is 0.41 1 GeneticVariation CLINVAR, UNIPROT 55505 NOP10 NOP10 ribonucleoprotein umls:C1857144 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 0.41 1 GeneticVariation CLINVAR, UNIPROT 51524 TMEM138 transmembrane protein 138 umls:C3280906 JOUBERT SYNDROME 16 0.41 1 GeneticVariation CLINVAR, UNIPROT 51010 EXOSC3 exosome component 3 umls:C3553449 PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 0.41 1 GeneticVariation CLINVAR, UNIPROT 11107 PRDM5 PR domain containing 5 umls:C3280011 BRITTLE CORNEA SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 56616 DIABLO diablo, IAP-binding mitochondrial protein umls:C3279948 DEAFNESS, AUTOSOMAL DOMINANT 64 0.41 1 GeneticVariation CLINVAR, UNIPROT 56603 CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 umls:C3280729 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES 0.41 1 GeneticVariation CLINVAR, UNIPROT 11311 VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) umls:C3809031 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 0.41 1 GeneticVariation CLINVAR, UNIPROT 83636 C19orf12 chromosome 19 open reading frame 12 umls:C3280371 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 0.41 0 GeneticVariation CLINVAR, UNIPROT 51761 ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 umls:C3808977 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 0.41 1 GeneticVariation CLINVAR, UNIPROT 55703 POLR3B polymerase (RNA) III (DNA directed) polypeptide B umls:C3280644 LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 0.41 3 GeneticVariation CLINVAR, UNIPROT 55129 ANO10 anoctamin 10 umls:C3150998 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 0.41 1 GeneticVariation CLINVAR, UNIPROT 55005 RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) umls:C3554067 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 0.41 1 GeneticVariation CLINVAR, UNIPROT 54928 IMPAD1 inositol monophosphatase domain containing 1 umls:C3279757 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE 0.41 1 GeneticVariation CLINVAR, UNIPROT 9524 TECR trans-2,3-enoyl-CoA reductase umls:C3151462 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 0.41 1 GeneticVariation CLINVAR, UNIPROT 4337 MOCS1 molybdenum cofactor synthesis 1 umls:C1854988 Molybdenum Cofactor Deficiency, Complementation Group A 0.41 3 GeneticVariation CLINVAR, UNIPROT 51741 WWOX WW domain containing oxidoreductase umls:C3280452 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 0.41 1 GeneticVariation CLINVAR, UNIPROT 51520 LARS leucyl-tRNA synthetase umls:C3809522 INFANTILE LIVER FAILURE SYNDROME 1 0.41 1 GeneticVariation CLINVAR, UNIPROT 440275 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 umls:C0340848 Hemangiomatosis, familial pulmonary capillary 0.41 1 GeneticVariation CLINVAR, UNIPROT 23529 CLCF1 cardiotrophin-like cytokine factor 1 umls:C1853198 COLD-INDUCED SWEATING SYNDROME 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 8722 CTSF cathepsin F umls:C3715049 CEROID LIPOFUSCINOSIS, NEURONAL, 13 0.41 1 GeneticVariation CLINVAR, UNIPROT 10892 MALT1 MALT1 paracaspase umls:C3809583 IMMUNODEFICIENCY 12 0.41 1 GeneticVariation CLINVAR, UNIPROT 26160 IFT172 intraflagellar transport 172 umls:C3810175 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 0.41 1 GeneticVariation CLINVAR, UNIPROT 27030 MLH3 mutL homolog 3 umls:C1858380 Colorectal Cancer, Hereditary Nonpolyposis, Type 7 0.41 1 GeneticVariation CLINVAR, UNIPROT 29978 UBQLN2 ubiquilin 2 umls:C3275459 AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 0.41 3 GeneticVariation CLINVAR, UNIPROT 6866 TAC3 tachykinin 3 umls:C3553843 HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA 0.41 2 GeneticVariation CLINVAR, UNIPROT 27315 PGAP2 post-GPI attachment to proteins 2 umls:C3280153 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 0.41 2 GeneticVariation CLINVAR, UNIPROT 22827 PUF60 poly-U binding splicing factor 60KDa umls:C3810023 VERHEIJ SYNDROME 0.41 1 GeneticVariation CLINVAR, UNIPROT 11280 SCN11A sodium channel, voltage gated, type XI alpha subunit umls:C3809899 EPISODIC PAIN SYNDROME, FAMILIAL, 3 0.41 0 GeneticVariation CLINVAR, UNIPROT 29119 CTNNA3 catenin (cadherin-associated protein), alpha 3 umls:C3810138 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 0.41 1 GeneticVariation CLINVAR, UNIPROT 50489 CD207 CD207 molecule, langerin umls:C3150657 BIRBECK GRANULE DEFICIENCY 0.41 1 GeneticVariation CLINVAR, UNIPROT 2658 GDF2 growth differentiation factor 2 umls:C3809710 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 3752 KCND3 potassium channel, voltage gated Shal related subfamily D, member 3 umls:C1846367 Spinocerebellar ataxia 19 0.41 2 GeneticVariation CLINVAR, UNIPROT 26235 FBXL4 F-box and leucine-rich repeat protein 4 umls:C3809592 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) 0.41 1 GeneticVariation CLINVAR, UNIPROT 11253 MAN1B1 mannosidase, alpha, class 1B, member 1 umls:C3280127 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 0.41 1 GeneticVariation CLINVAR, UNIPROT 29940 DSE dermatan sulfate epimerase umls:C3809845 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 9439 MED23 mediator complex subunit 23 umls:C3280265 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 0.41 1 GeneticVariation CLINVAR, UNIPROT 57465 TBC1D24 TBC1 domain family, member 24 umls:C2829265 DEAFNESS, AUTOSOMAL RECESSIVE 86 0.41 0 GeneticVariation CLINVAR, UNIPROT 57465 TBC1D24 TBC1 domain family, member 24 umls:C3809173 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 0.41 0 GeneticVariation CLINVAR, UNIPROT 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C2751681 NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 0.41 4 GeneticVariation CLINVAR, UNIPROT 2979 GUCA1B guanylate cyclase activator 1B (retina) umls:C3151190 RETINITIS PIGMENTOSA 48 0.41 1 GeneticVariation CLINVAR, UNIPROT 22897 CEP164 centrosomal protein 164kDa umls:C3541853 NEPHRONOPHTHISIS 15 0.41 1 GeneticVariation CLINVAR, UNIPROT 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C3281191 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 0.41 5 GeneticVariation CLINVAR, UNIPROT 10329 TMEM5 transmembrane protein 5 umls:C3554381 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 0.41 1 GeneticVariation CLINVAR, UNIPROT 84529 C15orf41 chromosome 15 open reading frame 41 umls:C3810185 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 0.41 1 GeneticVariation CLINVAR, UNIPROT 23568 ARL2BP ADP-ribosylation factor-like 2 binding protein umls:C3809503 RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS 0.41 1 GeneticVariation CLINVAR, UNIPROT 25821 MTO1 mitochondrial tRNA translation optimization 1 umls:C3553529 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 0.41 1 GeneticVariation CLINVAR, UNIPROT 51067 YARS2 tyrosyl-tRNA synthetase 2, mitochondrial umls:C3150802 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 0.41 2 GeneticVariation CLINVAR, UNIPROT 51004 COQ6 coenzyme Q6 monooxygenase umls:C3553349 COENZYME Q10 DEFICIENCY, PRIMARY, 6 0.41 1 GeneticVariation CLINVAR, UNIPROT 10939 AFG3L2 AFG3-like AAA ATPase 2 umls:C3280977 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE 0.41 0 GeneticVariation CLINVAR, UNIPROT 23594 ORC6 origin recognition complex, subunit 6 umls:C3151113 MEIER-GORLIN SYNDROME 3 0.41 1 GeneticVariation CLINVAR, UNIPROT 29925 GMPPB GDP-mannose pyrophosphorylase B umls:C3809216 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 0.41 0 GeneticVariation CLINVAR, UNIPROT 29925 GMPPB GDP-mannose pyrophosphorylase B umls:C3809221 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 0.41 0 GeneticVariation CLINVAR, UNIPROT 29925 GMPPB GDP-mannose pyrophosphorylase B umls:C3714932 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 0.41 0 GeneticVariation CLINVAR, UNIPROT 10699 CORIN corin, serine peptidase umls:C3281288 PREECLAMPSIA/ECLAMPSIA 5 0.41 1 GeneticVariation CLINVAR, UNIPROT 51660 MPC1 mitochondrial pyruvate carrier 1 umls:C3553607 MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 0.41 1 GeneticVariation CLINVAR, UNIPROT 51124 IER3IP1 immediate early response 3 interacting protein 1 umls:C3280240 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 0.41 1 GeneticVariation CLINVAR, UNIPROT 29887 SNX10 sorting nexin 10 umls:C3554478 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 0.41 2 GeneticVariation CLINVAR, UNIPROT 9409 PEX16 peroxisomal biogenesis factor 16 umls:C3553960 PEROXISOME BIOGENESIS DISORDER 8B 0.41 1 GeneticVariation CLINVAR, UNIPROT 6336 SCN10A sodium channel, voltage gated, type X alpha subunit umls:C3809893 EPISODIC PAIN SYNDROME, FAMILIAL, 2 0.41 1 GeneticVariation CLINVAR, UNIPROT 10369 CACNG2 calcium channel, voltage-dependent, gamma subunit 2 umls:C3280284 MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 0.41 1 GeneticVariation CLINVAR, UNIPROT 10319 LAMC3 laminin, gamma 3 umls:C3279875 CORTICAL MALFORMATIONS, OCCIPITAL 0.41 1 GeneticVariation CLINVAR, UNIPROT 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C1866422 Retinitis Pigmentosa 19 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 64241 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 umls:C1969115 Gallbladder Disease 4 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 176 ACAN aggrecan umls:C1842149 Spondyloepiphyseal Dysplasia, Kimberley Type 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 8754 ADAM9 ADAM metallopeptidase domain 9 umls:C1423873 CONE-ROD DYSTROPHY 9 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9719 ADAMTSL2 ADAMTS-like 2 umls:C0265287 Acromicric dysplasia 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 212 ALAS2 5'-aminolevulinate synthase 2 umls:C2677889 Protoporphyria, Erythropoietic, X-Linked Dominant 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 85365 ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase umls:C1842836 Congenital disorder of glycosylation type II 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 242 ALOX12B arachidonate 12-lipoxygenase, 12R type umls:C1855792 Ichthyosiform erythroderma, Brocq congenital, nonbullous form 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 8092 ALX1 ALX homeobox 1 umls:C3150706 FRONTONASAL DYSPLASIA 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 60529 ALX4 ALX homeobox 4 umls:C3150703 FRONTONASAL DYSPLASIA 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9179 AP4M1 adaptor-related protein complex 4, mu 1 subunit umls:C2752008 Spastic Paraplegia-50, Autosomal Recessive 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9907 AP5Z1 adaptor-related protein complex 5, zeta 1 subunit umls:C3150901 SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 348 APOE apolipoprotein E umls:C0036489 Sea-Blue Histiocyte Syndrome 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 367 AR androgen receptor umls:C2678098 Hypospadias 1, X-Linked 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9459 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 umls:C1845526 Mental Retardation, X-Linked 46 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10159 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 umls:C1845543 Mental Retardation, X-Linked, with Epilepsy 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 23545 ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 umls:C0268355 Cutis Laxa, Autosomal Recessive, Type IIA 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 724066 ATXN8 ataxin 8 umls:C1837454 Spinocerebellar ataxia 8 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6795 AURKC aurora kinase C umls:C0403812 Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 8312 AXIN1 axin 1 umls:C1842884 Caudal Duplication Anomaly 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 146227 BEAN1 brain expressed, associated with NEDD4, 1 umls:C1861736 Spinocerebellar Ataxia 31 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 631 BFSP1 beaded filament structural protein 1, filensin umls:C1969644 Cataract, Cortical, Juvenile-Onset 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 640 BLK BLK proto-oncogene, Src family tyrosine kinase umls:C3150618 Maturity-onset diabetes of the young, type 11 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 29760 BLNK B-cell linker umls:C3150752 AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 657 BMPR1A bone morphogenetic protein receptor, type IA umls:C1864730 Polyposis Syndrome, Hereditary Mixed, 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 658 BMPR1B bone morphogenetic protein receptor, type IB umls:C1836182 Chondrodysplasia, acromesomelic, with genital anomalies 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 675 BRCA2 breast cancer 2, early onset umls:C2675520 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 695 BTK Bruton agammaglobulinemia tyrosine kinase umls:C0472813 Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 56652 C10orf2 chromosome 10 open reading frame 2 umls:C3151513 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 91574 C12orf65 chromosome 12 open reading frame 65 umls:C3150801 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 727 C5 complement component 5 umls:C0343047 Complement component 5 deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 731 C8A complement component 8, alpha polypeptide umls:C3151081 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 778 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit umls:C1845407 Cone-Rod Dystrophy, X-Linked, 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 779 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit umls:C2930984 Malignant hyperthermia susceptibility type 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 93589 CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 umls:C1864849 Retinal Cone Dystrophy 4 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 843 CASP10 caspase 10, apoptosis-related cysteine peptidase umls:C0038356 Stomach Neoplasms 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 117144 CATSPER1 cation channel, sperm associated 1 umls:C2751811 Spermatogenic Failure 7 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C2675861 Lipodystrophy, Congenital Generalized, Type 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 54862 CC2D1A coiled-coil and C2 domain containing 1A umls:C1838023 Mental Retardation, Autosomal Recessive 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 152137 CCDC50 coiled-coil domain containing 50 umls:C1843895 Deafness, Autosomal Dominant 44 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0007786 Brain Ischemia 0.41 3 Biomarker CTD_human, CTD_mouse, RGD 30835 CD209 CD209 molecule umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 919 CD247 CD247 molecule umls:C1857798 Immunodeficiency due to Defect in CD3-Zeta 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 51293 CD320 CD320 molecule umls:C3150900 METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 92211 CDHR1 cadherin-related family member 1 umls:C3150912 CONE-ROD DYSTROPHY 15 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 55755 CDK5RAP2 CDK5 regulatory subunit associated protein 2 umls:C1858108 Microcephaly, Primary Autosomal Recessive, 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C1970712 Multiple Endocrine Neoplasia, Type IV 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 80184 CEP290 centrosomal protein 290kDa umls:C1970161 Meckel Syndrome, Type 4 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 55636 CHD7 chromodomain helicase DNA binding protein 7 umls:C1837461 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1116 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) umls:C2677770 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1131 CHRM3 cholinergic receptor, muscarinic 3 umls:C0033770 Prune Belly Syndrome 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 1140 CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) umls:C1837091 Myasthenic syndrome, congenital, type Id 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 26504 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 umls:C1857588 Amaurosis hypertrichosis 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1272 CNTN1 contactin 1 umls:C2675527 Myopathy, Congenital, Compton-North 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10466 COG5 component of oligomeric golgi complex 5 umls:C3150876 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1278 COL1A2 collagen, type I, alpha 2 umls:C1857034 Ehlers-Danlos syndrome, cardiac valvular form 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 1294 COL7A1 collagen, type VII, alpha 1 umls:C0268371 Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1298 COL9A2 collagen, type IX, alpha 2 umls:C1838429 Epiphyseal dysplasia, multiple, 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1299 COL9A3 collagen, type IX, alpha 3 umls:C1832998 Epiphyseal dysplasia, multiple, 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1376 CPT2 carnitine palmitoyltransferase 2 umls:C1833518 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 51185 CRBN cereblon umls:C1843942 Mental Retardation, Autosomal Recessive 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 78987 CRELD1 cysteine-rich with EGF-like domains 1 umls:C1853509 Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1471 CST3 cystatin C umls:C2677774 Macular Degeneration, Age-Related, 11 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9150 CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 umls:C1858726 Congenital Cataracts, Facial Dysmorphism, And Neuropathy 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1528 CYB5A cytochrome b5 type A (microsomal) umls:C2673427 Methemoglobinemia Type IV 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0750384 Coumarin Resistance 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 126410 CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 umls:C1858142 Lamellar ichthyosis, type 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1630 DCC DCC netrin 1 receptor umls:C1834870 MIRROR MOVEMENTS 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 51181 DCXR dicarbonyl/L-xylulose reductase umls:C0268162 Pentosuria 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1687 DFNA5 deafness, autosomal dominant 5 umls:C1832932 Deafness, Autosomal Dominant 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1729 DIAPH1 diaphanous-related formin 1 umls:C1852282 Deafness, Autosomal Dominant 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1730 DIAPH2 diaphanous-related formin 2 umls:C1845293 Premature Ovarian Failure 2a 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 57609 DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) umls:C1969893 Mental Retardation, Fra12a Type 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1737 DLAT dihydrolipoamide S-acetyltransferase umls:C1855565 Pyruvate Dehydrogenase E2 Deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 55172 DNAAF2 dynein, axonemal, assembly factor 2 umls:C2675867 Ciliary Dyskinesia, Primary, 10 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 64446 DNAI2 dynein, axonemal, intermediate chain 2 umls:C2676235 Ciliary Dyskinesia, Primary, 9 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 131118 DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 umls:C1857776 3-Methylglutaconic Aciduria, Type V 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 1832 DSP desmoplakin umls:C1852127 Keratosis Palmoplantaris Striata II 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 405753 DUOXA2 dual oxidase maturation factor 2 umls:C0342196 Thyroid Dyshormonogenesis 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 128178 EDARADD EDAR-associated death domain umls:C1720965 Ectodermal Dysplasia 3, Anhidrotic 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 23301 EHBP1 EH domain binding protein 1 umls:C2678479 Prostate Cancer, Hereditary, 12 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4072 EPCAM epithelial cell adhesion molecule umls:C2750471 Colorectal Cancer, Hereditary Nonpolyposis, Type 8 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2048 EPHB2 EPH receptor B2 umls:C1863600 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2056 EPO erythropoietin umls:C2675471 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2065 ERBB3 erb-b2 receptor tyrosine kinase 3 umls:C1843478 Lethal Congenital Contracture Syndrome 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2070 EYA4 EYA transcriptional coactivator and phosphatase 4 umls:C1854368 Cardiomyopathy, Dilated, 1J 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2070 EYA4 EYA transcriptional coactivator and phosphatase 4 umls:C1832476 Deafness, Autosomal Dominant 10 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2158 F9 coagulation factor IX umls:C0750384 Coumarin Resistance 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 54463 FAM134B family with sequence similarity 134, member B umls:C2751092 Neuropathy, Hereditary Sensory And Autonomic, Type IIB 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 286077 FAM83H family with sequence similarity 83, member H umls:C0399376 Amelogenesis Imperfecta, Type III 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2187 FANCB Fanconi anemia, complementation group B umls:C1845292 Fanconi Anemia, Complementation Group B 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2178 FANCE Fanconi anemia, complementation group E umls:C3160739 FANCONI ANEMIA, COMPLEMENTATION GROUP E 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2188 FANCF Fanconi anemia, complementation group F umls:C1414532 FANCF GENE 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 55215 FANCI Fanconi anemia, complementation group I umls:C1836861 Fanconi Anemia, Complementation Group I 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0795998 Jackson-Weiss syndrome 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2273 FHL1 four and a half LIM domains 1 umls:C2678015 Myopathy, Reducing Body, X-Linked, Childhood-Onset 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 344018 FIGLA folliculogenesis specific basic helix-loop-helix umls:C2676742 Premature Ovarian Failure 6 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2318 FLNC filamin C, gamma umls:C1836050 Filaminopathy, autosomal dominant 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C2751584 Neurodegeneration Due To Cerebral Folate Transport Deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 27022 FOXD3 forkhead box D3 umls:C1842979 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 27086 FOXP1 forkhead box P1 umls:C3150923 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 24140 FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli) umls:C0796215 Mental Retardation, X-Linked 9 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2521 FUS FUS RNA binding protein umls:C2750729 Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9568 GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2629 GBA glucosidase, beta, acid umls:C1842704 Gaucher Disease, Perinatal Lethal 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 54332 GDAP1 ganglioside induced differentiation associated protein 1 umls:C1842197 Charcot-Marie-Tooth Disease, Recessive Intermediate A 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 392255 GDF6 growth differentiation factor 6 umls:C3150968 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C2749477 Oculodentodigital Dysplasia, Autosomal Recessive 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2737 GLI3 GLI family zinc finger 3 umls:C1868111 Polydactyly, preaxial 4 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 51218 GLRX5 glutaredoxin 5 umls:C2673914 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2811 GP1BA glycoprotein Ib (platelet), alpha polypeptide umls:C1847711 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10243 GPHN gephyrin umls:C1835614 Hyperexplexia hereditary 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 84059 GPR98 G protein-coupled receptor 98 umls:C1858493 Febrile Convulsions, Familial, 4 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 79977 GRHL2 grainyhead-like 2 (Drosophila) umls:C1837640 Deafness, Autosomal Dominant 28 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2898 GRIK2 glutamate receptor, ionotropic, kainate 2 umls:C1970198 Mental Retardation, Autosomal Recessive 6 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2937 GSS glutathione synthetase umls:C1856399 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 2997 GYS1 glycogen synthase 1 (muscle) umls:C1969054 Glycogen Storage Disease 0, Muscle 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3043 HBB hemoglobin, beta umls:C1858990 Beta Thalassemia, Dominant Inclusion Body Type 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10021 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 umls:C2751083 Brugada Syndrome 8 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C1842342 Deafness, Autosomal Recessive 39 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3207 HOXA11 homeobox A11 umls:C1854273 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 5654 HTRA1 HtrA serine peptidase 1 umls:C1857813 Macular Degeneration, Age-Related, 7 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10075 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase umls:C2678046 Mental Retardation, X-Linked, Syndromic, Turner Type 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3476 IGBP1 immunoglobulin (CD79A) binding protein 1 umls:C1845446 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 8517 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma umls:C1845919 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3588 IL10RB interleukin 10 receptor, beta umls:C2675508 Inflammatory Bowel Disease 25, Autosomal Recessive 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 11141 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 umls:C0796227 MENTAL RETARDATION, X-LINKED 21 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C2675112 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3575 IL7R interleukin 7 receptor umls:C1837028 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9657 IQCB1 IQ motif containing B1 umls:C1836517 Senior-Loken Syndrome 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 11213 IRAK3 interleukin-1 receptor-associated kinase 3 umls:C1970224 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 51135 IRAK4 interleukin-1 receptor-associated kinase 4 umls:C1835828 Invasive Pneumococcal Disease, Recurrent Isolated, 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 83737 ITCH itchy E3 ubiquitin protein ligase umls:C3150649 AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3702 ITK IL2-inducible T-cell kinase umls:C2751686 Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 23189 KANK1 KN motif and ankyrin repeat domains 1 umls:C2752061 Cerebral Palsy, Spastic Quadriplegic, 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3741 KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5 umls:C2677106 Atrial Fibrillation, Familial, 7 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C0042514 Tachycardia, Ventricular 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 26128 KIAA1279 KIAA1279 umls:C1836123 Goldberg-Shprintzen megacolon syndrome 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 55605 KIF21A kinesin family member 21A umls:C2751105 Fibrosis of Extraocular Muscles, Congenital, 3B 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 200942 KLHDC8B kelch domain containing 8B umls:C0019829 Hodgkin Disease 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9622 KLK4 kallikrein-related peptidase 4 umls:C1290537 Amelogenesis imperfecta pigmented hypomaturation type 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3861 KRT14 keratin 14, type I umls:C1832926 Epidermolysis Bullosa Simplex, Autosomal Recessive 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 28956 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 umls:C1835829 Immunodeficiency due to Defect in MAPBP-Interacting Protein 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 11155 LDB3 LIM domain binding 3 umls:C1836155 Myopathy, Myofibrillar, Zasp-Related 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4000 LMNA lamin A/C umls:C1857829 Heart-hand syndrome, Slovenian type 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 125336 LOXHD1 lipoxygenase homology domains 1 umls:C2746083 Deafness, Autosomal Recessive 77 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4053 LTBP2 latent transforming growth factor beta binding protein 2 umls:C2751316 Glaucoma 3, Primary Congenital, D 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4054 LTBP3 latent transforming growth factor beta binding protein 3 umls:C2751297 Tooth Agenesis, Selective, 6 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10046 MAMLD1 mastermind-like domain containing 1 umls:C2677879 Hypospadias 2, X-Linked 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5648 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) umls:C0796059 Oculopalatoskeletal syndrome 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 55777 MBD5 methyl-CpG binding domain protein 5 umls:C1969562 Mental Retardation, Autosomal Dominant 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4159 MC3R melanocortin 3 receptor umls:C2677162 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 84693 MCEE methylmalonyl CoA epimerase umls:C1855100 Methylmalonyl-CoA Epimerase Deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C1845336 AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4205 MEF2A myocyte enhancer factor 2A umls:C1842247 Coronary Artery Disease, Autosomal Dominant, 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4208 MEF2C myocyte enhancer factor 2C umls:C3150700 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 145873 MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2 umls:C1837549 Spondylocostal dysostosis, autosomal recessive 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 407053 MIR96 microRNA 96 umls:C1537752 DEAFNESS, AUTOSOMAL DOMINANT 50 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 56246 MRAP melanocortin 2 receptor accessory protein umls:C1846284 Glucocorticoid Deficiency 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4477 MSMB microseminoprotein, beta- umls:C2677821 Prostate Cancer, Hereditary, 13 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 126328 NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa umls:C1838979 Mitochondrial complex I deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 51079 NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 umls:C0749424 Thyroid cancer, Hurthle cell 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 91942 NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 umls:C1838979 Mitochondrial complex I deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4729 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa umls:C1838979 Mitochondrial complex I deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 57502 NLGN4X neuroligin 4, X-linked umls:C1845334 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 91662 NLRP12 NLR family, pyrin domain containing 12 umls:C2673198 Familial Cold Autoinflammatory Syndrome 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 51314 NME8 NME/NM23 family member 8 umls:C1970506 Ciliary Dyskinesia, Primary, 6 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4867 NPHP1 nephronophthisis 1 (juvenile) umls:C1846790 Joubert syndrome 4 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4909 NTF4 neurotrophin 4 umls:C2751294 Glaucoma 1, Open Angle, O 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 23363 OBSL1 obscurin-like 1 umls:C2752041 Three M Syndrome 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4976 OPA1 optic atrophy 1 (autosomal dominant) umls:C1847730 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4976 OPA1 optic atrophy 1 (autosomal dominant) umls:C1852267 Optic atrophy 1 and deafness 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 28962 OSTM1 osteopetrosis associated transmembrane protein 1 umls:C1968603 Osteopetrosis, Autosomal Recessive 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5009 OTC ornithine carbamoyltransferase umls:C0220994 Hyperammonemia 0.41 4 Biomarker, GeneticVariation CLINVAR, CTD_human 79728 PALB2 partner and localizer of BRCA2 umls:C1835817 Fanconi Anemia, Complementation Group N 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5080 PAX6 paired box 6 umls:C0155299 Coloboma of optic nerve 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5122 PCSK1 proprotein convertase subtilisin/kexin type 1 umls:C2676498 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 50940 PDE11A phosphodiesterase 11A umls:C1864851 Pigmented Nodular Adrenocortical Disease, Primary, 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5148 PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma umls:C3150821 RETINITIS PIGMENTOSA 57 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5149 PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma umls:C1864900 Retinal Cone Dystrophy 3A 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5157 PDGFRL platelet-derived growth factor receptor-like umls:C2239176 Carcinoma, Hepatocellular 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 8050 PDHX pyruvate dehydrogenase complex, component X umls:C1855553 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 54704 PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 umls:C1837429 Pyruvate dehydrogenase phosphatase deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3651 PDX1 pancreatic and duodenal homeobox 1 umls:C1850096 Pancreatic Agenesis, Congenital 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 23236 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) umls:C3150988 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5339 PLEC plectin umls:C3150989 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9842 PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 umls:C1969093 Osteopetrosis, Autosomal Recessive 6 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5428 POLG polymerase (DNA directed), gamma umls:C0872218 Mitochondrial neurogastrointestinal encephalopathy syndrome 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C1850635 Atrial myxoma, familial 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 8492 PRSS12 protease, serine, 12 (neurotrypsin, motopsin) umls:C1855304 Mental Retardation, Autosomal Recessive 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5663 PSEN1 presenilin 1 umls:C1843015 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5729 PTGDR prostaglandin D2 receptor (DP) umls:C1846534 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5745 PTH1R parathyroid hormone 1 receptor umls:C1852222 Failure of Tooth Eruption, Primary 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5784 PTPN14 protein tyrosine phosphatase, non-receptor type 14 umls:C3150875 CHOANAL ATRESIA AND LYMPHEDEMA 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5788 PTPRC protein tyrosine phosphatase, receptor type, C umls:C1837028 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 116442 RAB39B RAB39B, member RAS oncogene family umls:C1846038 Mental Retardation, X-Linked 72 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10111 RAD50 RAD50 homolog (S. cerevisiae) umls:C2751318 Nijmegen Breakage Syndrome-Like Disorder 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5649 RELN reelin umls:C0796089 Norman Roberts lissencephaly syndrome 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6017 RLBP1 retinaldehyde binding protein 1 umls:C1843815 Newfoundland Rod-Cone Dystrophy 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6204 RPS10 ribosomal protein S10 umls:C2750081 Diamond-Blackfan Anemia 9 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6218 RPS17 ribosomal protein S17 umls:C2675860 Diamond-Blackfan Anemia 4 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6229 RPS24 ribosomal protein S24 umls:C1857719 Anemia, Diamond-Blackfan, 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6201 RPS7 ribosomal protein S7 umls:C2675511 Diamond-Blackfan Anemia 8 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 50484 RRM2B ribonucleotide reductase M2 B (TP53 inducible) umls:C2751319 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 221421 RSPH9 radial spoke head 9 homolog (Chlamydomonas) umls:C2675228 Ciliary Dyskinesia, Primary, 12 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 284654 RSPO1 R-spondin 1 umls:C3149931 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6324 SCN1B sodium channel, voltage gated, type I beta subunit umls:C2748541 Brugada Syndrome 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6340 SCNN1G sodium channel, non voltage gated 1 gamma subunit umls:C2751324 Bronchiectasis With Or Without Elevated Sweat Chloride 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6342 SCP2 sterol carrier protein 2 umls:C3150990 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6391 SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa umls:C1854336 Paragangliomas 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9723 SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E umls:C0265354 CHARGE Syndrome 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5269 SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6 umls:C3150704 DEAFNESS, AUTOSOMAL RECESSIVE 91 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C2750067 Plasminogen Activator Inhibitor-1 Deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 871 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) umls:C0729264 Preterm Premature Rupture of the Membranes 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6469 SHH sonic hedgehog umls:C1968843 Microphthalmia, Isolated, with Coloboma 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6473 SHOX short stature homeobox umls:C1845118 Short Stature, Idiopathic, X-Linked 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 4891 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 umls:C2673913 Anemia, Hypochromic Microcytic, With Iron Overload 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6566 SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1 umls:C1864902 Hyperinsulinemic hypoglycemia, familial, 7 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10559 SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 umls:C1970344 Congenital Disorder Of Glycosylation, Type IIF 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 54716 SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 umls:C0543541 Glycinuria with or without Oxalate Urolithiasis 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6597 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 umls:C2750074 Rhabdoid Tumor Predisposition Syndrome 2 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6605 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 umls:C1333989 Meningioma, familial 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C2675128 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6658 SOX3 SRY (sex determining region Y)-box 3 umls:C0342376 Panhypopituitarism X-linked 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 3431 SP110 SP110 nuclear body protein umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 55812 SPATA7 spermatogenesis associated 7 umls:C1858677 Leber Congenital Amaurosis 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6709 SPTAN1 spectrin, alpha, non-erythrocytic 1 umls:C3150731 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 79644 SRD5A3 steroid 5 alpha-reductase 3 umls:C3150191 Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 umls:C1836824 Amish Infantile Epilepsy Syndrome 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 92335 STRADA STE20-related kinase adaptor alpha umls:C1970203 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 7341 SUMO1 small ubiquitin-like modifier 1 umls:C1866070 Orofacial Cleft 10 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6853 SYN1 synapsin I umls:C1845343 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 23345 SYNE1 spectrin repeat containing, nuclear envelope 1 umls:C1853116 Spinocerebellar Ataxia, Autosomal Recessive 8 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 6890 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) umls:C1858266 Bare Lymphocyte Syndrome, Type I 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 7043 TGFB3 transforming growth factor, beta 3 umls:C1862511 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 84233 TMEM126A transmembrane protein 126A umls:C2751812 Optic Atrophy 7 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 64699 TMPRSS3 transmembrane protease, serine 3 umls:C1832827 Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C2676271 Cardiomyopathy, Familial Restrictive, 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10210 TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase umls:C1835923 Retinitis Pigmentosa 31 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 286262 TPRN taperin umls:C2750082 Deafness, Autosomal Recessive 79 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 83696 TRAPPC9 trafficking protein particle complex 9 umls:C2750791 Mental Retardation, Autosomal Recessive 13 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 11277 TREX1 three prime repair exonuclease 1 umls:C1860518 Vasculopathy, Retinal, With Cerebral Leukodystrophy 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 146057 TTBK2 tau tubulin kinase 2 umls:C1858351 Spinocerebellar Ataxia 11 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 123016 TTC8 tetratricopeptide repeat domain 8 umls:C3150715 RETINITIS PIGMENTOSA 51 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 7991 TUSC3 tumor suppressor candidate 3 umls:C1970197 Mental Retardation, Autosomal Recessive 7 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 7291 TWIST1 twist family bHLH transcription factor 1 umls:C1863370 Saethre-Chotzen Syndrome with Eyelid Anomalies 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C1843898 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 7381 UQCRB ubiquinol-cytochrome c reductase binding protein umls:C1852372 Mitochondrial Complex III Deficiency 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 9101 USP8 ubiquitin specific peptidase 8 umls:C0221406 Pituitary ACTH Hypersecretion 0.41 1 Biomarker, GeneticVariation CLINVAR, CTD_human 8287 USP9Y ubiquitin specific peptidase 9, Y-linked umls:C1839071 Spermatogenic Failure, Nonobstructive, Y-Linked 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C2676832 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 256764 WDR72 WD repeat domain 72 umls:C2750771 Amelogenesis Imperfecta, Hypomaturation Type, Iia3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 65125 WNK1 WNK lysine deficient protein kinase 1 umls:C2752089 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 23414 ZFPM2 zinc finger protein, FOG family member 2 umls:C1857781 Diaphragmatic Hernia 3 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 10269 ZMPSTE24 zinc metallopeptidase STE24 umls:C0406585 Tight skin contracture syndrome, lethal 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 22891 ZNF365 zinc finger protein 365 umls:C2700426 NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 79755 ZNF750 zinc finger protein 750 umls:C1853258 Seborrhea-Like Dermatitis with Psoriasiform Elements 0.41 0 Biomarker, GeneticVariation CLINVAR, CTD_human 7827 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) umls:C0027726 Nephrotic Syndrome 0.405931696789761 71 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7124 TNF tumor necrosis factor umls:C0011860 Diabetes Mellitus, Type 2 0.403904692146786 105 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0006142 Malignant neoplasm breast 0.399804930346983 190 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 7040 TGFB1 transforming growth factor, beta 1 umls:C0004096 Asthma 0.398969258190738 57 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0001418 Adenocarcinoma 0.398879116372451 89 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1636 ACE angiotensin I converting enzyme umls:C0002395 Alzheimer Disease 0.396672257563875 50 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1636 ACE angiotensin I converting enzyme umls:C0038454 Stroke 0.393756455755641 85 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0028754 Obesity 0.393530879317775 105 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 7124 TNF tumor necrosis factor umls:C0243026 Sepsis 0.393306176135179 95 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0027627 Neoplasm Metastasis 0.392915882615833 175 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0027051 Myocardial Infarction 0.392007270631751 52 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 348 APOE apolipoprotein E umls:C0020473 Hyperlipidemias 0.391997500202851 84 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0029456 Osteoporosis 0.391175950558684 76 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 2147 F2 coagulation factor II (thrombin) umls:C0040053 Thrombosis 0.390180616517835 85 Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 3075 CFH complement factor H umls:C0242383 Macular Degeneration 0.39 373 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1312 COMT catechol-O-methyltransferase umls:C0036341 Schizophrenia 0.39 268 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0001418 Adenocarcinoma 0.39 543 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3077 HFE hemochromatosis umls:C0018995 Hemochromatosis 0.39 609 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0003873 Arthritis, Rheumatoid 0.39 565 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3717 JAK2 Janus kinase 2 umls:C0027022 Myeloproliferative Disorders 0.39 274 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3717 JAK2 Janus kinase 2 umls:C0040028 Thrombocythemia, Essential 0.39 266 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0598608 Hyperhomocysteinemia 0.39 365 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0007137 Carcinoma, Squamous Cell 0.39 622 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 54901 CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 umls:C0011860 Diabetes Mellitus, Type 2 0.388711301626182 112 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 3553 IL1B interleukin 1, beta umls:C0021368 Inflammation 0.387658039453105 44 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 10891 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha umls:C0011860 Diabetes Mellitus, Type 2 0.38751935521358 62 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 1636 ACE angiotensin I converting enzyme umls:C0018801 Heart Failure 0.385582454891567 84 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3630 INS insulin umls:C0011849 Diabetes Mellitus 0.384518933752231 1507 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, CTD_mouse, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0011860 Diabetes Mellitus, Type 2 0.383295750728289 58 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0011860 Diabetes Mellitus, Type 2 0.38312897567792 56 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3553 IL1B interleukin 1, beta umls:C0002395 Alzheimer Disease 0.382807609868084 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2100 ESR2 estrogen receptor 2 (ER beta) umls:C1458155 Breast Neoplasms 0.382670324918514 50 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 5664 PSEN2 presenilin 2 umls:C0002395 Alzheimer Disease 0.381370997199851 55 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 348 APOE apolipoprotein E umls:C0020538 Hypertension 0.381340182803747 68 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 627 BDNF brain-derived neurotrophic factor umls:C0002395 Alzheimer Disease 0.380715245531332 47 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3586 IL10 interleukin 10 umls:C0021368 Inflammation 0.380539573307334 32 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 3084 NRG1 neuregulin 1 umls:C0036341 Schizophrenia 0.38018030890658 201 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0004352 Autistic Disorder 0.379189364300083 55 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 4023 LPL lipoprotein lipase umls:C0020557 Hypertriglyceridemia 0.378633524878751 30 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN, RGD 1401 CRP C-reactive protein, pentraxin-related umls:C0021368 Inflammation 0.378166043267839 32 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0001418 Adenocarcinoma 0.377406995817301 228 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0003469 Anxiety Disorders 0.376077927194816 143 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 153 ADRB1 adrenoceptor beta 1 umls:C0020538 Hypertension 0.375924631905853 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0011581 Depressive Disorder 0.375045154129459 257 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 7298 TYMS thymidylate synthetase umls:C0009404 Colorectal Neoplasms 0.375027914641685 47 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5053 PAH phenylalanine hydroxylase umls:C0751434 Classical phenylketonuria 0.374634135038695 251 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 672 BRCA1 breast cancer 1, early onset umls:C1458155 Breast Neoplasms 0.374510217504706 377 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 4129 MAOB monoamine oxidase B umls:C0030567 Parkinson Disease 0.374311369938903 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0036341 Schizophrenia 0.373831741534417 47 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0027627 Neoplasm Metastasis 0.373715566874176 108 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3717 JAK2 Janus kinase 2 umls:C0001815 Primary Myelofibrosis 0.371838045810995 242 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6352 CCL5 chemokine (C-C motif) ligand 5 umls:C0004096 Asthma 0.369735651569795 37 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0020538 Hypertension 0.369451658462342 44 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 7157 TP53 tumor protein p53 umls:C0026640 Mouth Neoplasms 0.369315735305402 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0009404 Colorectal Neoplasms 0.368742271678386 31 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN, RGD 3586 IL10 interleukin 10 umls:C0243026 Sepsis 0.368708592380246 45 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 5144 PDE4D phosphodiesterase 4D, cAMP-specific umls:C0038454 Stroke 0.368446131777357 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5728 PTEN phosphatase and tensin homolog umls:C0376358 Malignant neoplasm of prostate 0.367278604340417 154 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 6647 SOD1 superoxide dismutase 1, soluble umls:C0002736 Amyotrophic Lateral Sclerosis 0.36707308030956 984 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 338 APOB apolipoprotein B umls:C0020443 Hypercholesterolemia 0.367065981629272 67 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7356 SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) umls:C0004096 Asthma 0.365845071150556 31 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1906 EDN1 endothelin 1 umls:C0020538 Hypertension 0.363919444366847 67 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0024121 Lung Neoplasms 0.363725104540321 24 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, CTD_mouse, GAD, LHGDN 5979 RET ret proto-oncogene umls:C0019569 Hirschsprung Disease 0.363550201898294 163 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 153 ADRB1 adrenoceptor beta 1 umls:C0018801 Heart Failure 0.362529419970413 48 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0026769 Multiple Sclerosis 0.362439181734563 232 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0038454 Stroke 0.362422949416947 37 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0036341 Schizophrenia 0.362119377954369 47 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0038454 Stroke 0.361748492648574 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7299 TYR tyrosinase umls:C0078918 Albinism, Oculocutaneous 0.361455283971705 76 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 186 AGTR2 angiotensin II receptor, type 2 umls:C0020538 Hypertension 0.360926943004407 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 4023 LPL lipoprotein lipase umls:C0028754 Obesity 0.360163321492467 51 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0025202 Melanoma 0.360121877751518 688 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0007137 Carcinoma, Squamous Cell 0.360121877751518 243 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 627 BDNF brain-derived neurotrophic factor umls:C0036341 Schizophrenia 0.359800748405379 139 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0027051 Myocardial Infarction 0.358335268088595 51 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1813 DRD2 dopamine receptor D2 umls:C0036341 Schizophrenia 0.358157649117045 158 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1589 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 umls:C0001627 Adrenal Hyperplasia, Congenital 0.357748347712023 255 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.357504821270799 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7124 TNF tumor necrosis factor umls:C0027051 Myocardial Infarction 0.357143321675993 30 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 84062 DTNBP1 dystrobrevin binding protein 1 umls:C0036341 Schizophrenia 0.356994666770556 131 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1535 CYBA cytochrome b-245, alpha polypeptide umls:C0020538 Hypertension 0.356625832031764 28 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5443 POMC proopiomelanocortin umls:C0028754 Obesity 0.356565142816951 64 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 3732 CD82 CD82 molecule umls:C0027627 Neoplasm Metastasis 0.35632096509868 116 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN, RGD 5241 PGR progesterone receptor umls:C0014175 Endometriosis 0.356195234585876 43 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6760 SS18 synovial sarcoma translocation, chromosome 18 umls:C0039101 Sarcoma, Synovial 0.35555734358674 134 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD 7157 TP53 tumor protein p53 umls:C0007097 Carcinoma 0.355487742712823 928 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0004153 Atherosclerosis 0.355225770647293 315 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 627 BDNF brain-derived neurotrophic factor umls:C0011581 Depressive Disorder 0.354764758008686 153 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN, RGD 6606 SMN1 survival of motor neuron 1, telomeric umls:C0026847 Muscular Atrophy, Spinal 0.354591025448654 559 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3567 IL5 interleukin 5 umls:C0004096 Asthma 0.354541454116046 105 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2213 FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) umls:C0024141 Lupus Erythematosus, Systemic 0.354054712545796 32 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0024121 Lung Neoplasms 0.35373432381068 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 120892 LRRK2 leucine-rich repeat kinase 2 umls:C0030567 Parkinson Disease 0.353247374747681 242 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 675 BRCA2 breast cancer 2, early onset umls:C1458155 Breast Neoplasms 0.3523968610374 224 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0024121 Lung Neoplasms 0.352120188588459 40 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN, RGD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0036341 Schizophrenia 0.351815151513801 27 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 7040 TGFB1 transforming growth factor, beta 1 umls:C0011881 Diabetic Nephropathies 0.351454140456355 36 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0004153 Atherosclerosis 0.351384065530553 53 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 672 BRCA1 breast cancer 1, early onset umls:C0919267 Ovarian Neoplasms 0.351262842757025 209 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4878 NPPA natriuretic peptide A umls:C0020538 Hypertension 0.351170147348902 33 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 7099 TLR4 toll-like receptor 4 umls:C0243026 Sepsis 0.350866087348963 42 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 26191 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) umls:C0003873 Arthritis, Rheumatoid 0.350503025724516 137 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0014175 Endometriosis 0.35032012217598 34 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2312 FLG filaggrin umls:C0011615 Dermatitis, Atopic 0.350041576385198 170 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3291 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 umls:C0020538 Hypertension 0.349605531622639 47 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN, RGD 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0021655 Insulin Resistance 0.349390147828908 22 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 7124 TNF tumor necrosis factor umls:C0020538 Hypertension 0.34908706490369 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 8202 NCOA3 nuclear receptor coactivator 3 umls:C1458155 Breast Neoplasms 0.349001638317428 26 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN, RGD 387715 ARMS2 age-related maculopathy susceptibility 2 umls:C0242383 Macular Degeneration 0.348975782700636 173 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3952 LEP leptin umls:C0020538 Hypertension 0.348804048870956 37 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7422 VEGFA vascular endothelial growth factor A umls:C0009375 Colonic Neoplasms 0.348795640234687 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3953 LEPR leptin receptor umls:C0011860 Diabetes Mellitus, Type 2 0.348598050788214 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 2099 ESR1 estrogen receptor 1 umls:C1458155 Breast Neoplasms 0.34853654015478 428 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 2332 FMR1 fragile X mental retardation 1 umls:C1839780 Fragile X Tremor Ataxia Syndrome 0.348087674309748 118 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 7040 TGFB1 transforming growth factor, beta 1 umls:C0020538 Hypertension 0.348051597077871 23 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1813 DRD2 dopamine receptor D2 umls:C0030567 Parkinson Disease 0.347640089449748 20 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0009375 Colonic Neoplasms 0.347613079533074 33 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 5077 PAX3 paired box 3 umls:C0206655 Rhabdomyosarcoma, Alveolar 0.346739737847722 97 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD 2212 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) umls:C0003873 Arthritis, Rheumatoid 0.346174024178041 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 1956 EGFR epidermal growth factor receptor umls:C0024121 Lung Neoplasms 0.345876255925246 200 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 64127 NOD2 nucleotide-binding oligomerization domain containing 2 umls:C0021390 Inflammatory Bowel Diseases 0.345857232429605 167 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0004096 Asthma 0.345607503575214 22 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 59272 ACE2 angiotensin I converting enzyme 2 umls:C0020538 Hypertension 0.345352963071234 32 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 4068 SH2D1A SH2 domain containing 1A umls:C0549463 X-Linked Lymphoproliferative Syndrome 0.344636588510026 114 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 4843 NOS2 nitric oxide synthase 2, inducible umls:C0004096 Asthma 0.344452929864995 32 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C1458155 Breast Neoplasms 0.343722010576474 19 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1910 EDNRB endothelin receptor type B umls:C0019569 Hirschsprung Disease 0.343631868758187 41 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3651 PDX1 pancreatic and duodenal homeobox 1 umls:C0011860 Diabetes Mellitus, Type 2 0.343582349262229 43 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1312 COMT catechol-O-methyltransferase umls:C0030193 Pain 0.343523932592642 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0036341 Schizophrenia 0.342879416965102 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0028754 Obesity 0.342526326006566 39 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 7157 TP53 tumor protein p53 umls:C1458155 Breast Neoplasms 0.341982492208184 237 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0022661 Kidney Failure, Chronic 0.341588920097944 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0021368 Inflammation 0.34156044456919 18 Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 1280 COL2A1 collagen, type II, alpha 1 umls:C0029408 Osteoarthritis 0.341470791288263 43 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 3481 IGF2 insulin-like growth factor 2 umls:C2239176 Carcinoma, Hepatocellular 0.341344253842313 54 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0030567 Parkinson Disease 0.341056678233653 137 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6607 SMN2 survival of motor neuron 2, centromeric umls:C0026847 Muscular Atrophy, Spinal 0.340894129877951 553 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic BeFree, CTD_human, GAD, LHGDN 4159 MC3R melanocortin 3 receptor umls:C0028754 Obesity 0.340776267627406 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 1401 CRP C-reactive protein, pentraxin-related umls:C0003873 Arthritis, Rheumatoid 0.340239199628052 61 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7124 TNF tumor necrosis factor umls:C0021655 Insulin Resistance 0.340121877751518 16 Biomarker, GeneticVariation CTD_human, GAD, RGD 324 APC adenomatous polyposis coli umls:C0009375 Colonic Neoplasms 0.340102787933753 42 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 8660 IRS2 insulin receptor substrate 2 umls:C0011860 Diabetes Mellitus, Type 2 0.340102299396393 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0011860 Diabetes Mellitus, Type 2 0.340077420854321 267 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 8200 GDF5 growth differentiation factor 5 umls:C0029408 Osteoarthritis 0.339975273413083 32 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 3075 CFH complement factor H umls:C2931788 Atypical Hemolytic Uremic Syndrome 0.339866041777032 91 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 2099 ESR1 estrogen receptor 1 umls:C0028754 Obesity 0.339407775735536 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 5122 PCSK1 proprotein convertase subtilisin/kexin type 1 umls:C0028754 Obesity 0.339358744776938 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C1458155 Breast Neoplasms 0.33926827007739 508 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic BeFree, CTD_human, GAD, LHGDN 367 AR androgen receptor umls:C1839259 Bulbo-Spinal Atrophy, X-Linked 0.339172661631525 131 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, MGD 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0009375 Colonic Neoplasms 0.339165870562491 26 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 875 CBS cystathionine-beta-synthase umls:C0598608 Hyperhomocysteinemia 0.338870219198822 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0011860 Diabetes Mellitus, Type 2 0.338372307909717 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 9378 NRXN1 neurexin 1 umls:C0036341 Schizophrenia 0.337814195943159 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0004096 Asthma 0.337629241827622 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0032460 Polycystic Ovary Syndrome 0.33755075826555 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3567 IL5 interleukin 5 umls:C0014457 Eosinophilia 0.337462082059343 66 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0040136 Thyroid Neoplasms 0.337371118822435 97 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3565 IL4 interleukin 4 umls:C0011615 Dermatitis, Atopic 0.337334567538673 65 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 5310 PKD1 polycystic kidney disease 1 (autosomal dominant) umls:C0022680 Polycystic Kidney Diseases 0.33691513981164 51 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C2239176 Carcinoma, Hepatocellular 0.336299099712855 56 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3458 IFNG interferon, gamma umls:C0011854 Diabetes Mellitus, Type 1 0.336240194505907 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 10232 MSLN mesothelin umls:C0025500 Mesothelioma 0.336134212489802 31 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0242350 Erectile Dysfunction 0.335956689935814 24 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 154 ADRB2 adrenoceptor beta 2, surface umls:C0004096 Asthma 0.335766924170688 197 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 153 ADRB1 adrenoceptor beta 1 umls:C0007193 Cardiomyopathy, Dilated 0.335488231250183 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3816 KLK1 kallikrein 1 umls:C0020538 Hypertension 0.335439200291584 20 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 1636 ACE angiotensin I converting enzyme umls:C1956346 Coronary Artery Disease 0.335170950964387 147 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0022661 Kidney Failure, Chronic 0.334970741605953 12 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6638 SNRPN small nuclear ribonucleoprotein polypeptide N umls:C0032897 Prader-Willi Syndrome 0.334890474036016 70 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD 624 BDKRB2 bradykinin receptor B2 umls:C0020538 Hypertension 0.334871702614037 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0038644 Sudden Infant Death 0.334794196126685 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.334793707589325 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1827 RCAN1 regulator of calcineurin 1 umls:C0013080 Down Syndrome 0.334774617771561 39 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN, MGD 613 BCR breakpoint cluster region umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.334634135038695 476 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0007097 Carcinoma 0.334634135038695 264 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0021368 Inflammation 0.334403732465766 11 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 5741 PTH parathyroid hormone umls:C0020437 Hypercalcemia 0.334381393028056 93 Biomarker BeFree, CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0021368 Inflammation 0.333992713375002 14 Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 5328 PLAU plasminogen activator, urokinase umls:C0002395 Alzheimer Disease 0.333992713375002 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN, MGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0027051 Myocardial Infarction 0.333738172871022 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0020542 Hypertension, Pulmonary 0.333738172871022 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1636 ACE angiotensin I converting enzyme umls:C0007222 Cardiovascular Diseases 0.333614743874394 194 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0021368 Inflammation 0.333581694284239 14 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN, RGD 7124 TNF tumor necrosis factor umls:C0018801 Heart Failure 0.333356606383732 34 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0014859 Esophageal Neoplasms 0.333200127796949 24 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7124 TNF tumor necrosis factor umls:C0004096 Asthma 0.33309952677539 119 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0033578 Prostatic Neoplasms 0.333064693177369 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C1956346 Coronary Artery Disease 0.332867592268257 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3674 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) umls:C0038454 Stroke 0.33268214961536 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 65018 PINK1 PTEN induced putative kinase 1 umls:C0030567 Parkinson Disease 0.332358733238521 91 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 659 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) umls:C3714844 PULMONARY HYPERTENSION, PRIMARY, 1 0.332113356467306 83 Biomarker, GeneticVariation BeFree, MGD, UNIPROT 1401 CRP C-reactive protein, pentraxin-related umls:C0020538 Hypertension 0.332095562120048 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2703 GJA8 gap junction protein, alpha 8, 50kDa umls:C0086543 Cataract 0.33204653116145 37 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1814 DRD3 dopamine receptor D3 umls:C0036341 Schizophrenia 0.331965508495016 114 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4879 NPPB natriuretic peptide B umls:C0020538 Hypertension 0.331754129417727 15 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 26047 CNTNAP2 contactin associated protein-like 2 umls:C0004352 Autistic Disorder 0.331733573987882 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 5506 PPP1R3A protein phosphatase 1, regulatory subunit 3A umls:C0011860 Diabetes Mellitus, Type 2 0.331371585855717 15 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 3553 IL1B interleukin 1, beta umls:C0027051 Myocardial Infarction 0.331010086260911 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0014859 Esophageal Neoplasms 0.330883060277601 23 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN, RGD 4879 NPPB natriuretic peptide B umls:C0242698 Ventricular Dysfunction, Left 0.330180616517835 10 AlteredExpression, Biomarker CTD_human, LHGDN, RGD 2562 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 umls:C0004352 Autistic Disorder 0.330110541592032 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C1527249 Colorectal Cancer 0.33 247 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 672 BRCA1 breast cancer 1, early onset umls:C1140680 Malignant neoplasm of ovary 0.33 1376 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 79068 FTO fat mass and obesity associated umls:C0028754 Obesity 0.33 307 Biomarker, GeneticVariation BeFree, CTD_human, GAD 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0038356 Stomach Neoplasms 0.329975106972453 10 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 889 KRIT1 KRIT1, ankyrin repeat containing umls:C2919945 Cavernous hemangioma of brain 0.329894350865155 63 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 4340 MOG myelin oligodendrocyte glycoprotein umls:C0014072 Encephalomyelitis, Autoimmune, Experimental 0.329845319906557 81 Biomarker BeFree, CTD_human, RGD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0004096 Asthma 0.329798561493185 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7097 TLR2 toll-like receptor 2 umls:C0021368 Inflammation 0.329769597427071 10 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0025500 Mesothelioma 0.329729463642102 38 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN, RGD 1834 DSPP dentin sialophosphoprotein umls:C0011436 Dentinogenesis Imperfecta 0.329729463642102 35 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0021368 Inflammation 0.329564087881689 10 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 3586 IL10 interleukin 10 umls:C0009319 Colitis 0.329532851270349 65 Biomarker, Therapeutic BeFree, CTD_human, LHGDN, RGD 348 APOE apolipoprotein E umls:C0010068 Coronary Disease 0.329362175322989 189 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0009404 Colorectal Neoplasms 0.329359066873667 16 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN, RGD 5728 PTEN phosphatase and tensin homolog umls:C0004352 Autistic Disorder 0.329133001898441 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 4852 NPY neuropeptide Y umls:C0001973 Alcoholism 0.329005487377771 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 2020 EN2 engrailed homeobox 2 umls:C0004352 Autistic Disorder 0.328976523311657 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0085207 Diabetes, Gestational 0.32879205773348 13 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN, RGD 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C0022665 Kidney Neoplasms 0.328771502303636 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 4881 NPR1 natriuretic peptide receptor 1 umls:C0020538 Hypertension 0.328615023716852 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 847 CAT catalase umls:C0020538 Hypertension 0.32840951417147 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7422 VEGFA vascular endothelial growth factor A umls:C0027627 Neoplasm Metastasis 0.328019272488775 312 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0027051 Myocardial Infarction 0.327636995485901 11 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 3667 IRS1 insulin receptor substrate 1 umls:C0028754 Obesity 0.327489902610106 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3779 KCNMB1 potassium channel subfamily M regulatory beta subunit 1 umls:C0020538 Hypertension 0.327275495891095 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3290 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 umls:C0028754 Obesity 0.327255428998611 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 1906 EDN1 endothelin 1 umls:C0018801 Heart Failure 0.327226464932497 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0023890 Liver Cirrhosis 0.327197500866384 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 861 RUNX1 runt-related transcription factor 1 umls:C0023467 Leukemia, Myeloid, Acute 0.326991724761865 379 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2332 FMR1 fragile X mental retardation 1 umls:C0004352 Autistic Disorder 0.326795867486609 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0011860 Diabetes Mellitus, Type 2 0.32678648177562 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 1409 CRYAA crystallin, alpha A umls:C0086543 Cataract 0.32665994432967 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 23435 TARDBP TAR DNA binding protein umls:C0002736 Amyotrophic Lateral Sclerosis 0.32637519612572 283 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 94025 MUC16 mucin 16, cell surface associated umls:C0919267 Ovarian Neoplasms 0.326298444734864 20 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN, RGD 185 AGTR1 angiotensin II receptor, type 1 umls:C0018801 Heart Failure 0.326297956197504 14 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 210 ALAD aminolevulinate dehydratase umls:C0023176 Lead Poisoning 0.326219472635433 10 Biomarker, GeneticVariation CTD_human, GAD, RGD 6439 SFTPB surfactant protein B umls:C0024115 Lung Diseases 0.326121899255596 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 114907 FBXO32 F-box protein 32 umls:C0026846 Muscular Atrophy 0.326043904230884 25 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0018801 Heart Failure 0.325788875189544 29 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 1191 CLU clusterin umls:C0033578 Prostatic Neoplasms 0.325702471528563 10 AlteredExpression, Biomarker, PostTranslationalModification, Therapeutic BeFree, CTD_human, LHGDN, RGD 5979 RET ret proto-oncogene umls:C0040136 Thyroid Neoplasms 0.325647970241443 111 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0038454 Stroke 0.325502831515089 137 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 595 CCND1 cyclin D1 umls:C0033578 Prostatic Neoplasms 0.325496961983181 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 476 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide umls:C0020538 Hypertension 0.325369447462512 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 675 BRCA2 breast cancer 2, early onset umls:C0033578 Prostatic Neoplasms 0.325369447462512 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7040 TGFB1 transforming growth factor, beta 1 umls:C0034069 Pulmonary Fibrosis 0.325016845041335 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2147 F2 coagulation factor II (thrombin) umls:C0028754 Obesity 0.324469414256272 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0009324 Colitis, Ulcerative 0.324264393248251 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 3553 IL1B interleukin 1, beta umls:C0003873 Arthritis, Rheumatoid 0.324083420837305 134 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 23411 SIRT1 sirtuin 1 umls:C0028754 Obesity 0.324038816810384 28 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 3990 LIPC lipase, hepatic umls:C0020473 Hyperlipidemias 0.323902405116085 8 Biomarker, GeneticVariation CTD_human, GAD, RGD 7157 TP53 tumor protein p53 umls:C0038356 Stomach Neoplasms 0.323853596135711 55 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 712 C1QA complement component 1, q subcomponent, A chain umls:C0024141 Lupus Erythematosus, Systemic 0.323853374157487 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0004096 Asthma 0.323853374157487 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 1773 DNASE1 deoxyribonuclease I umls:C0024141 Lupus Erythematosus, Systemic 0.323726348174177 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 5376 PMP22 peripheral myelin protein 22 umls:C0011195 dejerine-sottas disease 0.323706281281692 33 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 9378 NRXN1 neurexin 1 umls:C0004352 Autistic Disorder 0.323648353149465 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 7157 TP53 tumor protein p53 umls:C0017638 Glioma 0.323647109515609 267 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0020538 Hypertension 0.323491874562681 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C0007134 Carcinoma, Renal Cell 0.32330217511968 207 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 85358 SHANK3 SH3 and multiple ankyrin repeat domains 3 umls:C0004352 Autistic Disorder 0.323237334058701 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 177 AGER advanced glycosylation end product-specific receptor umls:C0004153 Atherosclerosis 0.323052379943164 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 8517 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma umls:C2930820 Incontinentia pigmenti, familial male-lethal type 0.323041210224309 46 Biomarker, GeneticVariation BeFree, MGD, UNIPROT 5617 PRL prolactin umls:C0033375 Prolactinoma 0.323041210224309 51 Biomarker BeFree, CTD_human, RGD 1906 EDN1 endothelin 1 umls:C0149721 Hypertrophy, Left Ventricular 0.322924865422494 8 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0020538 Hypertension 0.322846870397782 10 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 5727 PTCH1 patched 1 umls:C0025149 Medulloblastoma 0.322728741588101 37 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD 490 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 umls:C0020538 Hypertension 0.322670324918514 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0027051 Myocardial Infarction 0.3226413608524 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0020538 Hypertension 0.3226413608524 10 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 8647 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 umls:C0008370 Cholestasis 0.322572263001318 33 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 267012 DAOA D-amino acid oxidase activator umls:C0036341 Schizophrenia 0.322483704953885 59 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 150 ADRA2A adrenoceptor alpha 2A umls:C0020538 Hypertension 0.322357856282307 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 154 ADRB2 adrenoceptor beta 2, surface umls:C0007193 Cardiomyopathy, Dilated 0.322357856282307 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6649 SOD3 superoxide dismutase 3, extracellular umls:C0020538 Hypertension 0.322279861257595 7 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 1956 EGFR epidermal growth factor receptor umls:C0017636 Glioblastoma 0.322152080177789 356 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 133 ADM adrenomedullin umls:C0243026 Sepsis 0.322074840249573 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 6690 SPINK1 serine peptidase inhibitor, Kazal type 1 umls:C0030305 Pancreatitis 0.322052618970637 77 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0020538 Hypertension 0.322025320753615 14 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0026640 Mouth Neoplasms 0.321996356687501 7 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 3630 INS insulin umls:C0002395 Alzheimer Disease 0.321976289795017 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1906 EDN1 endothelin 1 umls:C0020542 Hypertension, Pulmonary 0.321820299745593 23 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 154 ADRB2 adrenoceptor beta 2, surface umls:C0021655 Insulin Resistance 0.321585337596738 6 Biomarker, GeneticVariation CTD_human, GAD, RGD 3106 HLA-B major histocompatibility complex, class I, B umls:C0019693 HIV Infections 0.321539903624821 214 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1909 EDNRA endothelin receptor type A umls:C0020538 Hypertension 0.321458311613428 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 324 APC adenomatous polyposis coli umls:C0009404 Colorectal Neoplasms 0.321433751467141 109 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 3107 HLA-C major histocompatibility complex, class I, C umls:C0033860 Psoriasis 0.321337155162025 149 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6310 ATXN1 ataxin 1 umls:C0752120 SPINOCEREBELLAR ATAXIA 1 0.321262842757025 75 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0011854 Diabetes Mellitus, Type 1 0.321227434988613 350 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4204 MECP2 methyl CpG binding protein 2 umls:C0036572 Seizures 0.321125776084736 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0220658 PFEIFFER SYNDROME 0.321105709192251 31 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 7099 TLR4 toll-like receptor 4 umls:C0520459 Enterocolitis, Necrotizing 0.321047781060024 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 2078 ERG v-ets avian erythroblastosis virus E26 oncogene homolog umls:C0023467 Leukemia, Myeloid, Acute 0.321027714167539 31 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, MGD 5747 PTK2 protein tyrosine kinase 2 umls:C2239176 Carcinoma, Hepatocellular 0.32101881699391 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7039 TGFA transforming growth factor, alpha umls:C2239176 Carcinoma, Hepatocellular 0.320998750101426 25 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0020538 Hypertension 0.32089130247324 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5741 PTH parathyroid hormone umls:C0029456 Osteoporosis 0.320871235580756 31 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 7852 CXCR4 chemokine (C-X-C motif) receptor 4 umls:C0027627 Neoplasm Metastasis 0.320747318046767 195 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4879 NPPB natriuretic peptide B umls:C0018801 Heart Failure 0.320686281465218 26 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN, RGD 3106 HLA-B major histocompatibility complex, class I, B umls:C0038013 Spondylitis, Ankylosing 0.320683253823496 110 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6492 SIM1 single-minded family bHLH transcription factor 1 umls:C0028754 Obesity 0.32063676196926 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 121278 TPH2 tryptophan hydroxylase 2 umls:C1269683 Depressive Disorder, Major 0.320587731010662 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0085580 Hypertension, Essential 0.320538700052064 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0020538 Hypertension 0.320529802878435 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5617 PRL prolactin umls:C0020514 Hyperprolactinemia 0.320460705027352 33 Biomarker BeFree, CTD_human, LHGDN, RGD 181 AGRP agouti related neuropeptide umls:C0028754 Obesity 0.320353257399167 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 25 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.320246031749205 1319 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3156 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase umls:C0020443 Hypercholesterolemia 0.320197267349743 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6571 SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 umls:C0030567 Parkinson Disease 0.320168303283629 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6715 SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) umls:C0033578 Prostatic Neoplasms 0.320090308258917 6 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN, RGD 335 APOA1 apolipoprotein A-I umls:C0020538 Hypertension 0.320040788762959 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C0409818 Chronic infantile neurological, cutaneous and articular syndrome 0.319922659953278 35 Biomarker, GeneticVariation BeFree, MGD, UNIPROT 213 ALB albumin umls:C0011881 Diabetic Nephropathies 0.319922659953278 39 Biomarker, Therapeutic BeFree, CTD_human, RGD 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0005695 Urinary Bladder Neoplasms 0.319884798713535 6 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification CTD_human, GAD, LHGDN, RGD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0020538 Hypertension 0.319835279217577 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 1401 CRP C-reactive protein, pentraxin-related umls:C0151744 Myocardial Ischemia 0.319786248258979 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0014859 Esophageal Neoplasms 0.319757284192866 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 4148 MATN3 matrilin 3 umls:C0029408 Osteoarthritis 0.319708253234267 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0007786 Brain Ischemia 0.319679289168154 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 6338 SCNN1B sodium channel, non voltage gated 1 beta subunit umls:C0010674 Cystic Fibrosis 0.319679289168154 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, MGD 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0038356 Stomach Neoplasms 0.319630258209556 13 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN, RGD 23621 BACE1 beta-site APP-cleaving enzyme 1 umls:C0002395 Alzheimer Disease 0.31959631235228 71 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0162557 Liver Failure, Acute 0.319424748664174 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5741 PTH parathyroid hormone umls:C0085681 Hyperphosphatemia 0.319355650813091 35 Biomarker BeFree, CTD_human, RGD 3643 INSR insulin receptor umls:C0020459 Hyperinsulinism 0.319326686746977 27 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 1636 ACE angiotensin I converting enzyme umls:C0010068 Coronary Disease 0.319300831130185 186 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0009375 Colonic Neoplasms 0.31926875861475 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 1906 EDN1 endothelin 1 umls:C0011860 Diabetes Mellitus, Type 2 0.319219239118792 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3663 IRF5 interferon regulatory factor 5 umls:C0024141 Lupus Erythematosus, Systemic 0.319205915013485 93 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4843 NOS2 nitric oxide synthase 2, inducible umls:C0020538 Hypertension 0.318857739523986 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 4878 NPPA natriuretic peptide A umls:C0149721 Hypertrophy, Left Ventricular 0.318779744499275 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7040 TGFB1 transforming growth factor, beta 1 umls:C0024115 Lung Diseases 0.318574234953893 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 1392 CRH corticotropin releasing hormone umls:C0011581 Depressive Disorder 0.31850513710281 33 Biomarker BeFree, CTD_human, RGD 147409 DSG4 desmoglein 4 umls:C0020678 Hypotrichosis 0.318418244904469 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0038454 Stroke 0.318290730383799 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0011860 Diabetes Mellitus, Type 2 0.318290730383799 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5741 PTH parathyroid hormone umls:C0020503 Hyperparathyroidism, Secondary 0.318221632532716 32 Biomarker BeFree, CTD_human, RGD 4878 NPPA natriuretic peptide A umls:C0027051 Myocardial Infarction 0.318212735359087 7 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0004763 Barrett Esophagus 0.318212735359087 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 627 BDNF brain-derived neurotrophic factor umls:C0005586 Bipolar Disorder 0.318189640824881 90 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4879 NPPB natriuretic peptide B umls:C0018799 Heart Diseases 0.318134740334375 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 4879 NPPB natriuretic peptide B umls:C0020542 Hypertension, Pulmonary 0.318134740334375 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 4137 MAPT microtubule-associated protein tau umls:C0497327 Dementia 0.318092940700315 110 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0011884 Diabetic Retinopathy 0.318007225813705 8 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 4692 NDN necdin, melanoma antigen (MAGE) family member umls:C0032897 Prader-Willi Syndrome 0.317938127962623 28 Biomarker BeFree, CTD_human, MGD 10269 ZMPSTE24 zinc metallopeptidase STE24 umls:C0033300 Progeria 0.317938127962623 29 Biomarker BeFree, CTD_human, MGD 9997 SCO2 SCO2 cytochrome c oxidase assembly protein umls:C0268237 Cytochrome-c Oxidase Deficiency 0.317909163896509 19 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0009375 Colonic Neoplasms 0.317851235764282 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 1636 ACE angiotensin I converting enzyme umls:C0024115 Lung Diseases 0.317801716268324 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 1535 CYBA cytochrome b-245, alpha polypeptide umls:C0022661 Kidney Failure, Chronic 0.317723721243612 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5048 PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) umls:C0431375 Classical Lissencephaly 0.317654623392529 30 Biomarker, GeneticVariation BeFree, MGD, UNIPROT 627 BDNF brain-derived neurotrophic factor umls:C0021368 Inflammation 0.317567731194188 5 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0020542 Hypertension, Pulmonary 0.317469180739632 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3586 IL10 interleukin 10 umls:C0035126 Reperfusion Injury 0.317362221648806 6 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 3553 IL1B interleukin 1, beta umls:C0032285 Pneumonia 0.317313190690208 12 Biomarker BeFree, CTD_human, LHGDN, RGD 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0020429 Hyperalgesia 0.317313190690208 14 Biomarker BeFree, CTD_human, LHGDN, RGD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0016059 Fibrosis 0.317156712103424 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 3553 IL1B interleukin 1, beta umls:C0270611 Brain Injuries 0.317156712103424 8 Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0007134 Carcinoma, Renal Cell 0.317029686120114 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 149233 IL23R interleukin 23 receptor umls:C0010346 Crohn Disease 0.317026658478392 91 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 185 AGTR1 angiotensin II receptor, type 1 umls:C0033687 Proteinuria 0.316951202558043 5 Biomarker, GeneticVariation CTD_human, GAD, RGD 5327 PLAT plasminogen activator, tissue umls:C0007786 Brain Ischemia 0.316951202558043 30 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 7157 TP53 tumor protein p53 umls:C0024121 Lung Neoplasms 0.316936028122745 146 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0022661 Kidney Failure, Chronic 0.316824176574732 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 5972 REN renin umls:C0149721 Hypertrophy, Left Ventricular 0.316804109682248 27 Biomarker BeFree, CTD_human, RGD 10814 CPLX2 complexin 2 umls:C0036341 Schizophrenia 0.316540672004639 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 2969 GTF2I general transcription factor IIi umls:C0175702 Williams Syndrome 0.316520605112154 23 Biomarker BeFree, CTD_human, MGD 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0011581 Depressive Disorder 0.316520605112154 25 Biomarker BeFree, CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0011881 Diabetic Nephropathies 0.316491641046041 17 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 1906 EDN1 endothelin 1 umls:C0034069 Pulmonary Fibrosis 0.316462676979927 9 Biomarker BeFree, CTD_human, LHGDN, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0038358 Stomach Ulcer 0.316462676979927 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 7157 TP53 tumor protein p53 umls:C0009404 Colorectal Neoplasms 0.316379700164053 96 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 595 CCND1 cyclin D1 umls:C0007138 Carcinoma, Transitional Cell 0.316257167434545 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0151744 Myocardial Ischemia 0.316051657889163 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3606 IL18 interleukin 18 umls:C0524620 Metabolic Syndrome X 0.316051657889163 10 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 3553 IL1B interleukin 1, beta umls:C0034069 Pulmonary Fibrosis 0.316051657889163 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 4897 NRCAM neuronal cell adhesion molecule umls:C0004352 Autistic Disorder 0.316051657889163 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 639 PRDM1 PR domain containing 1, with ZNF domain umls:C0024141 Lupus Erythematosus, Systemic 0.316051657889163 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 6696 SPP1 secreted phosphoprotein 1 umls:C0022650 Kidney Calculi 0.315973662864451 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0020538 Hypertension 0.315973662864451 6 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN, RGD 353 APRT adenine phosphoribosyltransferase umls:C3665382 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY 0.315953595971967 24 AlteredExpression, Biomarker, GeneticVariation BeFree, MGD, UNIPROT 1869 E2F1 E2F transcription factor 1 umls:C2239176 Carcinoma, Hepatocellular 0.315953595971967 22 Biomarker BeFree, CTD_human, MGD 23411 SIRT1 sirtuin 1 umls:C0004153 Atherosclerosis 0.315924631905853 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 6502 SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase umls:C2239176 Carcinoma, Hepatocellular 0.315924631905853 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 6311 ATXN2 ataxin 2 umls:C0752121 SPINOCEREBELLAR ATAXIA 2 0.315876255925246 56 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, MGD 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0015695 Fatty Liver 0.315690158294358 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 9569 GTF2IRD1 GTF2I repeat domain containing 1 umls:C0175702 Williams Syndrome 0.315670091401873 20 Biomarker BeFree, CTD_human, MGD 959 CD40LG CD40 ligand umls:C1956346 Coronary Artery Disease 0.315612163269646 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 7157 TP53 tumor protein p53 umls:C0014859 Esophageal Neoplasms 0.315607247800608 118 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2702 GJA5 gap junction protein, alpha 5, 40kDa umls:C0020538 Hypertension 0.315484648748976 7 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0011875 Diabetic Angiopathies 0.315484648748976 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 6696 SPP1 secreted phosphoprotein 1 umls:C0017638 Glioma 0.315435617790378 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0151744 Myocardial Ischemia 0.315406653724264 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 10911 UTS2 urotensin 2 umls:C0020538 Hypertension 0.315406653724264 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, RGD 4088 SMAD3 SMAD family member 3 umls:C0029408 Osteoarthritis 0.315357622765666 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD 84676 TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase umls:C0026846 Muscular Atrophy 0.315357622765666 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0024121 Lung Neoplasms 0.315328658699552 5 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN, RGD 1909 EDNRA endothelin receptor type A umls:C0520679 Sleep Apnea, Obstructive 0.315201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 4973 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 umls:C0020538 Hypertension 0.315201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 5145 PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha umls:C0035334 Retinitis Pigmentosa 0.315201144178882 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 8828 NRP2 neuropilin 2 umls:C0004352 Autistic Disorder 0.315123149154171 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN, MGD 7439 BEST1 bestrophin 1 umls:C2745945 MACULAR DYSTROPHY, VITELLIFORM 0.315103082261686 18 Biomarker, GeneticVariation BeFree, MGD, UNIPROT 596 BCL2 B-cell CLL/lymphoma 2 umls:C0035126 Reperfusion Injury 0.315045154129459 5 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN, RGD 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C0011881 Diabetic Nephropathies 0.315045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN, RGD 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0021368 Inflammation 0.315045154129459 5 Biomarker CTD_human, LHGDN, RGD 3569 IL6 interleukin 6 umls:C0018801 Heart Failure 0.314868608650191 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 7124 TNF tumor necrosis factor umls:C0024115 Lung Diseases 0.314868608650191 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3552 IL1A interleukin 1, alpha umls:C0270611 Brain Injuries 0.314839644584077 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0018800 Cardiomegaly 0.314839644584077 5 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0034063 Pulmonary Edema 0.314839644584077 3 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN, RGD 2305 FOXM1 forkhead box M1 umls:C2239176 Carcinoma, Hepatocellular 0.314819577691592 18 Biomarker BeFree, CTD_human, MGD 5339 PLEC plectin umls:C2931072 Epidermolysa bullosa simplex and limb girdle muscular dystrophy 0.314819577691592 17 Biomarker BeFree, CTD_human, MGD 6778 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced umls:C0011615 Dermatitis, Atopic 0.314790613625479 10 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN, MGD 477 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide umls:C0020538 Hypertension 0.314634135038695 5 Biomarker, GeneticVariation CTD_human, GAD, RGD 627 BDNF brain-derived neurotrophic factor umls:C0270611 Brain Injuries 0.314634135038695 5 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 1813 DRD2 dopamine receptor D2 umls:C0236736 Cocaine-Related Disorders 0.314634135038695 13 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 3481 IGF2 insulin-like growth factor 2 umls:C0002395 Alzheimer Disease 0.314634135038695 4 Biomarker, GeneticVariation CTD_human, GAD, RGD 3586 IL10 interleukin 10 umls:C0033581 Prostatitis 0.314634135038695 3 Biomarker, GeneticVariation CTD_human, GAD, RGD 3606 IL18 interleukin 18 umls:C0007786 Brain Ischemia 0.314634135038695 4 Biomarker, GeneticVariation CTD_human, GAD, RGD 3990 LIPC lipase, hepatic umls:C0020476 Hyperlipoproteinemias 0.314634135038695 3 Biomarker, GeneticVariation CTD_human, GAD, RGD 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0023890 Liver Cirrhosis 0.314634135038695 4 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0021655 Insulin Resistance 0.314634135038695 7 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 4886 NPY1R neuropeptide Y receptor Y1 umls:C0028754 Obesity 0.314634135038695 3 Biomarker, GeneticVariation CTD_human, GAD, MGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0007786 Brain Ischemia 0.314634135038695 8 Biomarker, GeneticVariation CTD_human, GAD, RGD 23411 SIRT1 sirtuin 1 umls:C0021655 Insulin Resistance 0.314634135038695 6 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 7124 TNF tumor necrosis factor umls:C0001925 Albuminuria 0.314634135038695 4 Biomarker, GeneticVariation CTD_human, GAD, RGD 5310 PKD1 polycystic kidney disease 1 (autosomal dominant) umls:C3149841 POLYCYSTIC KIDNEY DISEASE 1 0.314585104080097 33 Biomarker, GeneticVariation BeFree, GAD, MGD, UNIPROT 3572 IL6ST interleukin 6 signal transducer umls:C0003873 Arthritis, Rheumatoid 0.314585104080097 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 4724 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) umls:C0023264 Leigh Disease 0.314507109055385 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0028754 Obesity 0.314301599510003 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0020538 Hypertension 0.314301599510003 12 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 23411 SIRT1 sirtuin 1 umls:C0524620 Metabolic Syndrome X 0.314301599510003 8 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 55054 ATG16L1 autophagy related 16-like 1 (S. cerevisiae) umls:C0010346 Crohn Disease 0.314249540909683 96 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0007222 Cardiovascular Diseases 0.313995000405703 115 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 338 APOB apolipoprotein B umls:C0015695 Fatty Liver 0.313969063981311 17 Biomarker, GeneticVariation BeFree, CTD_human, RGD 3553 IL1B interleukin 1, beta umls:C0036572 Seizures 0.313940099915198 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 2539 G6PD glucose-6-phosphate dehydrogenase umls:C2939465 Glucosephosphate Dehydrogenase Deficiency 0.313914244298405 187 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0002395 Alzheimer Disease 0.313734590369816 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3586 IL10 interleukin 10 umls:C0024141 Lupus Erythematosus, Systemic 0.313711495835609 93 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1889 ECE1 endothelin converting enzyme 1 umls:C0020538 Hypertension 0.313656595345104 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0151744 Myocardial Ischemia 0.313656595345104 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 4745 NELL1 NEL-like 1 (chicken) umls:C0010278 Craniosynostoses 0.313656595345104 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN, RGD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0028754 Obesity 0.313451085799722 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 3643 INSR insulin receptor umls:C0020456 Hyperglycemia 0.313402054841124 14 Biomarker BeFree, CTD_human, RGD 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0011881 Diabetic Nephropathies 0.313402054841124 14 Biomarker BeFree, CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0034069 Pulmonary Fibrosis 0.31337309077501 7 Biomarker BeFree, CTD_human, LHGDN, RGD 898 CCNE1 cyclin E1 umls:C2239176 Carcinoma, Hepatocellular 0.31337309077501 7 Biomarker BeFree, CTD_human, LHGDN, RGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0243026 Sepsis 0.31337309077501 6 Biomarker, Therapeutic BeFree, CTD_human, LHGDN, RGD 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0009375 Colonic Neoplasms 0.31337309077501 9 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN, RGD 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0025202 Melanoma 0.313358959736557 174 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1363 CPE carboxypeptidase E umls:C0028754 Obesity 0.313167581229629 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, MGD 5080 PAX6 paired box 6 umls:C0004352 Autistic Disorder 0.313167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 6863 TAC1 tachykinin, precursor 1 umls:C0030193 Pain 0.313167581229629 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 7157 TP53 tumor protein p53 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.313145782165928 219 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4647 MYO7A myosin VIIA umls:C2931206 Usher syndrome, type 1B 0.31311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human, RGD 7468 WHSC1 Wolf-Hirschhorn syndrome candidate 1 umls:C1956097 Wolf-Hirschhorn Syndrome 0.31311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human, MGD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0017668 Glomerulosclerosis, Focal Segmental 0.313089586204917 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0020538 Hypertension 0.313089586204917 6 Biomarker, Therapeutic BeFree, CTD_human, LHGDN, RGD 155 ADRB3 adrenoceptor beta 3 umls:C0018801 Heart Failure 0.312884076659535 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0038358 Stomach Ulcer 0.312884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0042487 Venous Thrombosis 0.312883810100399 174 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2131 EXT1 exostosin glycosyltransferase 1 umls:C0004352 Autistic Disorder 0.312806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, MGD 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0007134 Carcinoma, Renal Cell 0.312806081634823 3 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 7099 TLR4 toll-like receptor 4 umls:C0011882 Diabetic Neuropathies 0.312806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C1956346 Coronary Artery Disease 0.312635405687462 109 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 367 AR androgen receptor umls:C0020538 Hypertension 0.312600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 847 CAT catalase umls:C0022661 Kidney Failure, Chronic 0.312600572089441 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 1956 EGFR epidermal growth factor receptor umls:C0007193 Cardiomyopathy, Dilated 0.312600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 5328 PLAU plasminogen activator, urokinase umls:C0027051 Myocardial Infarction 0.312600572089441 8 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, RGD 6285 S100B S100 calcium binding protein B umls:C0005586 Bipolar Disorder 0.312600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, RGD 1401 CRP C-reactive protein, pentraxin-related umls:C0007222 Cardiovascular Diseases 0.312597122232483 135 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0011860 Diabetes Mellitus, Type 2 0.312522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN, RGD 624 BDKRB2 bradykinin receptor B2 umls:C0021368 Inflammation 0.312522577064729 3 Biomarker CTD_human, LHGDN, RGD 1012 CDH13 cadherin 13 umls:C0024121 Lung Neoplasms 0.312522577064729 3 Biomarker, PostTranslationalModification CTD_human, LHGDN, RGD 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0004352 Autistic Disorder 0.312522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN, MGD 1906 EDN1 endothelin 1 umls:C0018800 Cardiomegaly 0.312522577064729 3 Biomarker, GeneticVariation CTD_human, LHGDN, RGD 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0021368 Inflammation 0.312522577064729 3 Biomarker, Therapeutic CTD_human, LHGDN, RGD 2911 GRM1 glutamate receptor, metabotropic 1 umls:C0014556 Epilepsy, Temporal Lobe 0.312522577064729 3 Biomarker CTD_human, LHGDN, RGD 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0035126 Reperfusion Injury 0.312522577064729 9 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN, RGD 3586 IL10 interleukin 10 umls:C0270611 Brain Injuries 0.312522577064729 3 Biomarker, Therapeutic CTD_human, LHGDN, RGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0270611 Brain Injuries 0.312522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN, RGD 4803 NGF nerve growth factor (beta polypeptide) umls:C0021368 Inflammation 0.312522577064729 3 Biomarker CTD_human, LHGDN, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0020541 Hypertension, Portal 0.312522577064729 4 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0035126 Reperfusion Injury 0.312522577064729 5 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN, RGD 5077 PAX3 paired box 3 umls:C0027794 Neural Tube Defects 0.312522577064729 3 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN, MGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0016059 Fibrosis 0.312522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN, RGD 6256 RXRA retinoid X receptor, alpha umls:C0033578 Prostatic Neoplasms 0.312522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN, RGD 6548 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 umls:C0035126 Reperfusion Injury 0.312522577064729 3 Biomarker, Therapeutic CTD_human, LHGDN, RGD 6863 TAC1 tachykinin, precursor 1 umls:C0021368 Inflammation 0.312522577064729 5 Biomarker CTD_human, LHGDN, RGD 7422 VEGFA vascular endothelial growth factor A umls:C0035328 Retinal Vein Occlusion 0.312522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN, RGD 7157 TP53 tumor protein p53 umls:C0025202 Melanoma 0.312439348175194 196 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 26191 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) umls:C0004364 Autoimmune Diseases 0.312400509860731 149 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 32 ACACB acetyl-CoA carboxylase beta umls:C0021655 Insulin Resistance 0.312317067519348 3 Biomarker, GeneticVariation CTD_human, GAD, RGD 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0021655 Insulin Resistance 0.312317067519348 3 Biomarker, GeneticVariation CTD_human, GAD, RGD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0030193 Pain 0.312317067519348 3 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 1812 DRD1 dopamine receptor D1 umls:C0030567 Parkinson Disease 0.312317067519348 4 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 1813 DRD2 dopamine receptor D2 umls:C0013386 Dyskinesia, Drug-Induced 0.312317067519348 5 Biomarker, GeneticVariation CTD_human, GAD, RGD 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0026640 Mouth Neoplasms 0.312317067519348 3 Biomarker, GeneticVariation CTD_human, GAD, RGD 3553 IL1B interleukin 1, beta umls:C0015967 Fever 0.312317067519348 6 Biomarker, GeneticVariation CTD_human, GAD, RGD 3569 IL6 interleukin 6 umls:C0035126 Reperfusion Injury 0.312317067519348 6 Biomarker, GeneticVariation CTD_human, GAD, RGD 3952 LEP leptin umls:C0021655 Insulin Resistance 0.312317067519348 4 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, RGD 4137 MAPT microtubule-associated protein tau umls:C0025261 Memory Disorders 0.312317067519348 4 Biomarker, GeneticVariation CTD_human, GAD, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0015934 Fetal Growth Retardation 0.312317067519348 3 Biomarker, GeneticVariation CTD_human, GAD, RGD 5295 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) umls:C0021655 Insulin Resistance 0.312317067519348 3 Biomarker, GeneticVariation CTD_human, GAD, RGD 10891 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha umls:C0027051 Myocardial Infarction 0.312317067519348 1 Biomarker, GeneticVariation CTD_human, GAD, RGD 7422 VEGFA vascular endothelial growth factor A umls:C0600518 Choroidal Neovascularization 0.312317067519348 3 Biomarker, GeneticVariation CTD_human, GAD, RGD 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0018801 Heart Failure 0.312268036560749 10 Biomarker, GeneticVariation BeFree, CTD_human, RGD 1490 CTGF connective tissue growth factor umls:C0034069 Pulmonary Fibrosis 0.312268036560749 11 Biomarker, Therapeutic BeFree, CTD_human, RGD 54551 MAGEL2 melanoma antigen family L2 umls:C0032897 Prader-Willi Syndrome 0.312268036560749 8 Biomarker BeFree, CTD_human, MGD 7157 TP53 tumor protein p53 umls:C0027627 Neoplasm Metastasis 0.312267281464253 391 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 81 ACTN4 actinin, alpha 4 umls:C0333497 Segmental glomerulosclerosis 0.311984531990656 9 Biomarker, GeneticVariation BeFree, MGD, UNIPROT 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0020433 Hyperbilirubinemia 0.311984531990656 10 Biomarker BeFree, CTD_human, RGD 301 ANXA1 annexin A1 umls:C0027627 Neoplasm Metastasis 0.311984531990656 8 Biomarker BeFree, CTD_human, RGD 4155 MBP myelin basic protein umls:C0011303 Demyelinating Diseases 0.311984531990656 9 Biomarker BeFree, CTD_human, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0009319 Colitis 0.311984531990656 9 Biomarker, Therapeutic BeFree, CTD_human, RGD 7299 TYR tyrosinase umls:C0025202 Melanoma 0.311880747671276 216 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0008370 Cholestasis 0.311701027420562 11 Biomarker, GeneticVariation BeFree, CTD_human, RGD 9031 BAZ1B bromodomain adjacent to zinc finger domain, 1B umls:C0175702 Williams Syndrome 0.311701027420562 7 Biomarker BeFree, CTD_human, MGD 93664 CADPS2 Ca++-dependent secretion activator 2 umls:C0004352 Autistic Disorder 0.311701027420562 6 Biomarker BeFree, CTD_human, MGD 1356 CP ceruloplasmin (ferroxidase) umls:C0012715 Iron Metabolism Disorders 0.311701027420562 8 Biomarker BeFree, CTD_human, RGD 2626 GATA4 GATA binding protein 4 umls:C0235833 Hernias, Diaphragmatic, Congenital 0.311701027420562 7 Biomarker, GeneticVariation BeFree, CTD_human, MGD 3066 HDAC2 histone deacetylase 2 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.311701027420562 10 Biomarker, Therapeutic BeFree, CTD_human, RGD 3565 IL4 interleukin 4 umls:C0035455 Rhinitis 0.311701027420562 8 Biomarker BeFree, CTD_human, RGD 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0011881 Diabetic Nephropathies 0.311701027420562 7 Biomarker, Therapeutic BeFree, CTD_human, RGD 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C1867403 Pyloric Stenosis, Infantile Hypertrophic 1 0.311701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human, MGD 4878 NPPA natriuretic peptide A umls:C0018801 Heart Failure 0.311701027420562 11 Biomarker, Therapeutic BeFree, CTD_human, RGD 7157 TP53 tumor protein p53 umls:C0022116 Ischemia 0.311701027420562 8 Biomarker BeFree, CTD_human, RGD 9509 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 umls:C2700425 Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive 0.311417522850468 5 Biomarker BeFree, CTD_human, MGD 3320 HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 umls:C1458155 Breast Neoplasms 0.311417522850468 7 Biomarker BeFree, CTD_human, RGD 5367 PMCH pro-melanin-concentrating hormone umls:C0028754 Obesity 0.311417522850468 7 Biomarker BeFree, CTD_human, RGD 6285 S100B S100 calcium binding protein B umls:C0027051 Myocardial Infarction 0.311417522850468 5 Biomarker BeFree, CTD_human, RGD 6647 SOD1 superoxide dismutase 1, soluble umls:C0020538 Hypertension 0.311417522850468 7 Biomarker, Therapeutic BeFree, CTD_human, RGD 7124 TNF tumor necrosis factor umls:C0993582 Arthritis, Experimental 0.311417522850468 15 Biomarker, Therapeutic BeFree, CTD_human, RGD 6314 ATXN7 ataxin 7 umls:C0752125 spinocerebellar ataxia-7 0.311340182803747 40 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 6495 SIX1 SIX homeobox 1 umls:C0265234 Branchio-Oto-Renal Syndrome 0.311253290605406 14 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN, MGD 348 APOE apolipoprotein E umls:C0007222 Cardiovascular Diseases 0.311246846903107 151 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0026764 Multiple Myeloma 0.311239733737344 235 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C2239176 Carcinoma, Hepatocellular 0.311134018280375 5 Biomarker BeFree, CTD_human, MGD 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0400966 Non-alcoholic Fatty Liver Disease 0.311134018280375 7 Biomarker, GeneticVariation BeFree, CTD_human, RGD 231 AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) umls:C0086543 Cataract 0.311134018280375 8 Biomarker, Therapeutic BeFree, CTD_human, RGD 551 AVP arginine vasopressin umls:C0011175 Dehydration 0.311134018280375 6 Biomarker, Therapeutic BeFree, CTD_human, RGD 1536 CYBB cytochrome b-245, beta polypeptide umls:C0020538 Hypertension 0.311134018280375 7 Biomarker BeFree, CTD_human, RGD 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0018801 Heart Failure 0.311134018280375 6 Biomarker BeFree, CTD_human, RGD 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0020542 Hypertension, Pulmonary 0.311134018280375 6 Biomarker BeFree, CTD_human, RGD 3553 IL1B interleukin 1, beta umls:C0009319 Colitis 0.311134018280375 6 Biomarker BeFree, CTD_human, RGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0243026 Sepsis 0.311134018280375 7 Biomarker, GeneticVariation BeFree, CTD_human, RGD 9971 NR1H4 nuclear receptor subfamily 1, group H, member 4 umls:C2239176 Carcinoma, Hepatocellular 0.311134018280375 5 Biomarker BeFree, CTD_human, MGD 23236 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) umls:C0036341 Schizophrenia 0.311134018280375 5 Biomarker BeFree, CTD_human, MGD 5741 PTH parathyroid hormone umls:C0041948 Uremia 0.311134018280375 6 Biomarker BeFree, CTD_human, RGD 6569 SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 umls:C0020438 Hypercalciuria 0.311134018280375 6 Biomarker BeFree, CTD_human, RGD 7124 TNF tumor necrosis factor umls:C0018790 Heart Arrest 0.311134018280375 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, RGD 7200 TRH thyrotropin-releasing hormone umls:C0020538 Hypertension 0.311134018280375 6 Biomarker BeFree, CTD_human, RGD 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0040038 Thromboembolism 0.311050234531355 171 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0038356 Stomach Neoplasms 0.310928242175857 76 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2 A2M alpha-2-macroglobulin umls:C2239176 Carcinoma, Hepatocellular 0.310850513710281 4 Biomarker BeFree, CTD_human, RGD 652 BMP4 bone morphogenetic protein 4 umls:C0033375 Prolactinoma 0.310850513710281 5 Biomarker BeFree, CTD_human, RGD 6364 CCL20 chemokine (C-C motif) ligand 20 umls:C0009324 Colitis, Ulcerative 0.310850513710281 5 Biomarker, Therapeutic BeFree, CTD_human, RGD 493856 CISD2 CDGSH iron sulfur domain 2 umls:C1858028 Wolfram Syndrome 2 0.310850513710281 3 Biomarker BeFree, CTD_human, MGD 1395 CRHR2 corticotropin releasing hormone receptor 2 umls:C0003123 Anorexia 0.310850513710281 5 Biomarker BeFree, CTD_human, RGD 1399 CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like umls:C0012236 DiGeorge Syndrome 0.310850513710281 4 Biomarker BeFree, CTD_human, MGD 1644 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) umls:C0030567 Parkinson Disease 0.310850513710281 7 Biomarker, Therapeutic BeFree, CTD_human, RGD 1909 EDNRA endothelin receptor type A umls:C0011860 Diabetes Mellitus, Type 2 0.310850513710281 5 Biomarker BeFree, CTD_human, RGD 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0009319 Colitis 0.310850513710281 6 Biomarker, Therapeutic BeFree, CTD_human, RGD 3339 HSPG2 heparan sulfate proteoglycan 2 umls:C1857100 Dyssegmental dysplasia 0.310850513710281 3 Biomarker BeFree, CTD_human, MGD 8100 IFT88 intraflagellar transport 88 umls:C0085548 Polycystic Kidney, Autosomal Recessive 0.310850513710281 5 Biomarker BeFree, CTD_human, MGD 10788 IQGAP2 IQ motif containing GTPase activating protein 2 umls:C2239176 Carcinoma, Hepatocellular 0.310850513710281 3 Biomarker BeFree, CTD_human, MGD 3929 LBP lipopolysaccharide binding protein umls:C0028754 Obesity 0.310850513710281 4 Biomarker, Therapeutic BeFree, CTD_human, RGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0034069 Pulmonary Fibrosis 0.310850513710281 5 Biomarker, GeneticVariation BeFree, CTD_human, RGD 26960 NBEA neurobeachin umls:C0004352 Autistic Disorder 0.310850513710281 4 Biomarker BeFree, CTD_human, MGD 5193 PEX12 peroxisomal biogenesis factor 12 umls:C0043459 Zellweger Syndrome 0.310850513710281 4 Biomarker BeFree, CTD_human, RGD 4891 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 umls:C0162316 Anemia, Iron-Deficiency 0.310850513710281 5 Biomarker BeFree, CTD_human, RGD 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0015695 Fatty Liver 0.310850513710281 5 Biomarker BeFree, CTD_human, RGD 8714 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 umls:C0008370 Cholestasis 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 2180 ACSL1 acyl-CoA synthetase long-chain family member 1 umls:C0028754 Obesity 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 51094 ADIPOR1 adiponectin receptor 1 umls:C0022661 Kidney Failure, Chronic 0.310567009140187 3 Biomarker BeFree, CTD_human, RGD 156 ADRBK1 adrenergic, beta, receptor kinase 1 umls:C0020538 Hypertension 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0853897 Diabetic Cardiomyopathies 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 551 AVP arginine vasopressin umls:C0020538 Hypertension 0.310567009140187 9 Biomarker BeFree, CTD_human, RGD 627 BDNF brain-derived neurotrophic factor umls:C0038220 Status Epilepticus 0.310567009140187 5 Biomarker BeFree, CTD_human, RGD 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0020538 Hypertension 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 1392 CRH corticotropin releasing hormone umls:C0003123 Anorexia 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 2668 GDNF glial cell derived neurotrophic factor umls:C0242422 Parkinsonian Disorders 0.310567009140187 6 Biomarker, Therapeutic BeFree, CTD_human, RGD 28964 GIT1 G protein-coupled receptor kinase interacting ArfGAP 1 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.310567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, MGD 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0028754 Obesity 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 2904 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B umls:C0014544 Epilepsy 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 348980 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 umls:C0036572 Seizures 0.310567009140187 4 Biomarker, GeneticVariation BeFree, CTD_human, RGD 3099 HK2 hexokinase 2 umls:C0028754 Obesity 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 3363 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled umls:C0003469 Anxiety Disorders 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 3586 IL10 interleukin 10 umls:C0993582 Arthritis, Experimental 0.310567009140187 7 Biomarker, Therapeutic BeFree, CTD_human, RGD 3596 IL13 interleukin 13 umls:C0034069 Pulmonary Fibrosis 0.310567009140187 4 Biomarker, Therapeutic BeFree, CTD_human, RGD 3764 KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8 umls:C0151744 Myocardial Ischemia 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 4323 MMP14 matrix metallopeptidase 14 (membrane-inserted) umls:C0162871 Aortic Aneurysm, Abdominal 0.310567009140187 3 Biomarker BeFree, CTD_human, RGD 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0162872 Aortic Aneurysm, Thoracic 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0162872 Aortic Aneurysm, Thoracic 0.310567009140187 4 Biomarker, GeneticVariation BeFree, CTD_human, RGD 4504 MT3 metallothionein 3 umls:C0036572 Seizures 0.310567009140187 3 Biomarker, Therapeutic BeFree, CTD_human, RGD 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0020538 Hypertension 0.310567009140187 5 Biomarker, Therapeutic BeFree, CTD_human, RGD 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0009319 Colitis 0.310567009140187 4 Biomarker BeFree, CTD_human, RGD 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0020538 Hypertension 0.310567009140187 5 Biomarker BeFree, CTD_human, RGD 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C1864498 Renal tubular acidosis, distal, autosomal recessive 0.310567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human, MGD 6529 SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 umls:C0036341 Schizophrenia 0.310567009140187 3 Biomarker BeFree, CTD_human, MGD 6671 SP4 Sp4 transcription factor umls:C0036341 Schizophrenia 0.310567009140187 2 Biomarker BeFree, CTD_human, MGD 7124 TNF tumor necrosis factor umls:C0020429 Hyperalgesia 0.310567009140187 14 Biomarker BeFree, CTD_human, RGD 6247 RS1 retinoschisin 1 umls:C3714753 RETINOSCHISIS 1, X-LINKED, JUVENILE 0.310283504570094 10 Biomarker, GeneticVariation BeFree, MGD, UNIPROT 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C1857253 Dicarboxylicaminoaciduria 0.310283504570094 1 Biomarker, GeneticVariation BeFree, MGD, UNIPROT 23600 AMACR alpha-methylacyl-CoA racemase umls:C3280428 Alpha-Methylacyl-CoA Racemase Deficiency 0.310283504570094 1 Biomarker, GeneticVariation BeFree, MGD, UNIPROT 133 ADM adrenomedullin umls:C0017658 Glomerulonephritis 0.310283504570094 5 Biomarker BeFree, CTD_human, RGD 551 AVP arginine vasopressin umls:C0020541 Hypertension, Portal 0.310283504570094 3 Biomarker, Therapeutic BeFree, CTD_human, RGD 587 BCAT2 branched chain amino-acid transaminase 2, mitochondrial umls:C0024776 Maple Syrup Urine Disease 0.310283504570094 1 Biomarker BeFree, CTD_human, MGD 847 CAT catalase umls:C0015695 Fatty Liver 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0032285 Pneumonia 0.310283504570094 4 Biomarker BeFree, CTD_human, RGD 6361 CCL17 chemokine (C-C motif) ligand 17 umls:C0032285 Pneumonia 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0020429 Hyperalgesia 0.310283504570094 5 Biomarker BeFree, CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0020542 Hypertension, Pulmonary 0.310283504570094 4 Biomarker BeFree, CTD_human, RGD 1269 CNR2 cannabinoid receptor 2 (macrophage) umls:C0030305 Pancreatitis 0.310283504570094 2 Biomarker BeFree, CTD_human, RGD 1374 CPT1A carnitine palmitoyltransferase 1A (liver) umls:C0011860 Diabetes Mellitus, Type 2 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 1392 CRH corticotropin releasing hormone umls:C0038587 Substance Withdrawal Syndrome 0.310283504570094 4 Biomarker BeFree, CTD_human, RGD 2833 CXCR3 chemokine (C-X-C motif) receptor 3 umls:C0038454 Stroke 0.310283504570094 2 Biomarker BeFree, CTD_human, RGD 1742 DLG4 discs, large homolog 4 (Drosophila) umls:C0175702 Williams Syndrome 0.310283504570094 1 Biomarker BeFree, CTD_human, MGD 1906 EDN1 endothelin 1 umls:C0242350 Erectile Dysfunction 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 1906 EDN1 endothelin 1 umls:C1565489 Renal Insufficiency 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 1910 EDNRB endothelin receptor type B umls:C0011860 Diabetes Mellitus, Type 2 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 1910 EDNRB endothelin receptor type B umls:C0020542 Hypertension, Pulmonary 0.310283504570094 4 Biomarker BeFree, CTD_human, RGD 2147 F2 coagulation factor II (thrombin) umls:C0012739 Disseminated Intravascular Coagulation 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 355 FAS Fas cell surface death receptor umls:C0007193 Cardiomyopathy, Dilated 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0020538 Hypertension 0.310283504570094 3 Biomarker, GeneticVariation BeFree, CTD_human, RGD 158326 FREM1 FRAS1 related extracellular matrix 1 umls:C0235833 Hernias, Diaphragmatic, Congenital 0.310283504570094 1 Biomarker BeFree, CTD_human, MGD 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C0019151 Hepatic Encephalopathy 0.310283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human, RGD 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C0019151 Hepatic Encephalopathy 0.310283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human, RGD 2626 GATA4 GATA binding protein 4 umls:C0027051 Myocardial Infarction 0.310283504570094 3 Biomarker, Therapeutic BeFree, CTD_human, RGD 3066 HDAC2 histone deacetylase 2 umls:C0014175 Endometriosis 0.310283504570094 3 Biomarker, Therapeutic BeFree, CTD_human, RGD 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0007786 Brain Ischemia 0.310283504570094 4 Biomarker, Therapeutic BeFree, CTD_human, RGD 3218 HOXB8 homeobox B8 umls:C0040953 Trichotillomania 0.310283504570094 2 Biomarker BeFree, CTD_human, MGD 3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 umls:C0032460 Polycystic Ovary Syndrome 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 3605 IL17A interleukin 17A umls:C0007786 Brain Ischemia 0.310283504570094 2 Biomarker BeFree, CTD_human, RGD 3606 IL18 interleukin 18 umls:C0032285 Pneumonia 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 3565 IL4 interleukin 4 umls:C0993582 Arthritis, Experimental 0.310283504570094 4 Biomarker, Therapeutic BeFree, CTD_human, RGD 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C0036572 Seizures 0.310283504570094 2 Biomarker BeFree, CTD_human, RGD 2660 MSTN myostatin umls:C0018801 Heart Failure 0.310283504570094 2 Biomarker BeFree, CTD_human, RGD 4744 NEFH neurofilament, heavy polypeptide umls:C1862939 Amyotrophic lateral sclerosis 1 0.310283504570094 1 Biomarker BeFree, CTD_human, MGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0009319 Colitis 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0020473 Hyperlipidemias 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0020429 Hyperalgesia 0.310283504570094 4 Biomarker BeFree, CTD_human, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0036572 Seizures 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0022661 Kidney Failure, Chronic 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 6336 SCN10A sodium channel, voltage gated, type X alpha subunit umls:C0020429 Hyperalgesia 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 4093 SMAD9 SMAD family member 9 umls:C0020542 Hypertension, Pulmonary 0.310283504570094 2 Biomarker BeFree, CTD_human, RGD 6770 STAR steroidogenic acute regulatory protein umls:C0032460 Polycystic Ovary Syndrome 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 6869 TACR1 tachykinin receptor 1 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.310283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human, MGD 7056 THBD thrombomodulin umls:C0035222 Respiratory Distress Syndrome, Adult 0.310283504570094 2 Biomarker BeFree, CTD_human, RGD 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0018799 Heart Diseases 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0023893 Liver Cirrhosis, Experimental 0.310283504570094 5 Biomarker BeFree, CTD_human, RGD 7124 TNF tumor necrosis factor umls:C0038220 Status Epilepticus 0.310283504570094 3 Biomarker BeFree, CTD_human, RGD 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0006625 Cachexia 0.310283504570094 3 Biomarker, Therapeutic BeFree, CTD_human, RGD 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0020538 Hypertension 0.310283504570094 4 Biomarker BeFree, CTD_human, RGD 2784 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 umls:C0020538 Hypertension 0.310251512862258 99 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 367 AR androgen receptor umls:C0033578 Prostatic Neoplasms 0.310033856523301 216 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 8864 PER2 period circadian clock 2 umls:C3807327 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 0.31 1 Biomarker, GeneticVariation MGD, UNIPROT 242 ALOX12B arachidonate 12-lipoxygenase, 12R type umls:C1855789 Self-Healing Collodion Baby 0.31 4 Biomarker, GeneticVariation MGD, UNIPROT 9060 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 umls:C2748516 Spondylodysplasia And Premature Pubarche 0.31 1 Biomarker, GeneticVariation MGD, UNIPROT 2157 F8 coagulation factor VIII, procoagulant component umls:C1366370 HEMOPHILIA A 0.31 59 Biomarker, GeneticVariation MGD, UNIPROT 2159 F10 coagulation factor X umls:C1414497 COAGULATION FACTOR X 0.31 13 Biomarker, GeneticVariation MGD, UNIPROT 3861 KRT14 keratin 14, type I umls:C3715082 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 348 APOE apolipoprotein E umls:C1412481 APOLIPOPROTEIN E 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 4942 OAT ornithine aminotransferase umls:C1417917 ORNITHINE AMINOTRANSFERASE 0.31 5 Biomarker, GeneticVariation MGD, UNIPROT 590 BCHE butyrylcholinesterase umls:C1412756 BUTYRYLCHOLINESTERASE 0.31 18 Biomarker, GeneticVariation MGD, UNIPROT 7056 THBD thrombomodulin umls:C3280976 Thrombophilia due to Thrombomodulin Defect 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 6710 SPTB spectrin, beta, erythrocytic umls:C1420387 SPECTRIN, BETA, ERYTHROCYTIC 0.31 5 Biomarker, GeneticVariation MGD, UNIPROT 2184 FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) umls:C1414525 TYROSINEMIA, TYPE I 0.31 8 Biomarker, GeneticVariation MGD, UNIPROT 1427 CRYGS crystallin, gamma S umls:C3805410 CATARACT 20, MULTIPLE TYPES 0.31 1 Biomarker, GeneticVariation MGD, UNIPROT 4487 MSX1 msh homeobox 1 umls:C3489529 TOOTH AGENESIS, SELECTIVE, 1 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C2931764 Furlong syndrome 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 3988 LIPA lipase A, lysosomal acid, cholesterol esterase umls:C1416865 LYSOSOMAL ACID LIPASE DEFICIENCY 0.31 2 Biomarker, GeneticVariation MGD, UNIPROT 2668 GDNF glial cell derived neurotrophic factor umls:C3150974 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 0.31 2 Biomarker, GeneticVariation MGD, UNIPROT 359 AQP2 aquaporin 2 (collecting duct) umls:C1563706 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL 0.31 14 Biomarker, GeneticVariation MGD, UNIPROT 6448 SGSH N-sulfoglucosamine sulfohydrolase umls:C1420015 MUCOPOLYSACCHARIDOSIS, TYPE IIIA 0.31 13 Biomarker, GeneticVariation MGD, UNIPROT 1186 CLCN7 chloride channel, voltage-sensitive 7 umls:C3179239 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 70 ACTC1 actin, alpha, cardiac muscle 1 umls:C3150681 CARDIOMYOPATHY, DILATED, 1R 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 3291 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 umls:C1415737 hydroxysteroid (11-beta) dehydrogenase 2 0.31 6 Biomarker, GeneticVariation MGD, UNIPROT 1145 CHRNE cholinergic receptor, nicotinic, epsilon (muscle) umls:C0751885 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 6833 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 umls:C2931832 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 427 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 umls:C1412573 FARBER LIPOGRANULOMATOSIS 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 5727 PTCH1 patched 1 umls:C2751544 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 8192 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit umls:C3808414 PERRAULT SYNDROME 3 0.31 1 Biomarker, GeneticVariation MGD, UNIPROT 374654 KIF7 kinesin family member 7 umls:C3279899 HYDROLETHALUS SYNDROME 2 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 3077 HFE hemochromatosis umls:C1384665 HFE GENE 0.31 7 Biomarker, GeneticVariation MGD, UNIPROT 55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) umls:C3151519 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 0.31 0 Biomarker, GeneticVariation MGD, UNIPROT 7837 PXDN peroxidasin umls:C3151617 SCLEROCORNEA, AUTOSOMAL RECESSIVE 0.31 1 Biomarker, GeneticVariation MGD, UNIPROT 2 A2M alpha-2-macroglobulin umls:C0206669 Adenoma, Liver Cell 0.31 1 Biomarker CTD_human, RGD 18 ABAT 4-aminobutyrate aminotransferase umls:C0036572 Seizures 0.31 2 Biomarker, Therapeutic CTD_human, RGD 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0993582 Arthritis, Experimental 0.31 2 Biomarker CTD_human, RGD 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 38 ACAT1 acetyl-CoA acetyltransferase 1 umls:C0022661 Kidney Failure, Chronic 0.31 1 Biomarker CTD_human, RGD 1636 ACE angiotensin I converting enzyme umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 1636 ACE angiotensin I converting enzyme umls:C0178324 Vascular System Injuries 0.31 2 Biomarker CTD_human, RGD 43 ACHE acetylcholinesterase (Yt blood group) umls:C0032343 Poisoning 0.31 2 Biomarker CTD_human, RGD 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0993582 Arthritis, Experimental 0.31 2 Biomarker CTD_human, RGD 133 ADM adrenomedullin umls:C0020429 Hyperalgesia 0.31 1 Biomarker CTD_human, RGD 133 ADM adrenomedullin umls:C0023893 Liver Cirrhosis, Experimental 0.31 3 Biomarker CTD_human, RGD 148 ADRA1A adrenoceptor alpha 1A umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 153 ADRB1 adrenoceptor beta 1 umls:C0027055 Myocardial Reperfusion Injury 0.31 1 Biomarker CTD_human, RGD 155 ADRB3 adrenoceptor beta 3 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 375790 AGRN agrin umls:C1850792 Congenital myasthenic syndrome ib 0.31 0 Biomarker CTD_human, MGD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0018800 Cardiomegaly 0.31 16 Biomarker, Therapeutic CTD_human, RGD 210 ALAD aminolevulinate dehydratase umls:C0162533 Porphyrias, Hepatic 0.31 3 Biomarker CTD_human, RGD 210 ALAD aminolevulinate dehydratase umls:C0036572 Seizures 0.31 2 Biomarker CTD_human, RGD 211 ALAS1 5'-aminolevulinate synthase 1 umls:C0032708 Porphyrias 0.31 2 Biomarker CTD_human, RGD 240 ALOX5 arachidonate 5-lipoxygenase umls:C0020542 Hypertension, Pulmonary 0.31 2 Biomarker CTD_human, RGD 240 ALOX5 arachidonate 5-lipoxygenase umls:C0035126 Reperfusion Injury 0.31 3 Biomarker CTD_human, RGD 288 ANK3 ankyrin 3, node of Ranvier (ankyrin G) umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 301 ANXA1 annexin A1 umls:C0020538 Hypertension 0.31 2 Biomarker CTD_human, RGD 301 ANXA1 annexin A1 umls:C0024668 Mammary Neoplasms, Experimental 0.31 2 Biomarker CTD_human, RGD 8639 AOC3 amine oxidase, copper containing 3 umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 328 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 umls:C0036572 Seizures 0.31 2 Biomarker CTD_human, RGD 348 APOE apolipoprotein E umls:C1864205 Macular Degeneration, Age-Related, 1 0.31 0 Biomarker CTD_human, MGD 358 AQP1 aquaporin 1 (Colton blood group) umls:C0020538 Hypertension 0.31 2 Biomarker CTD_human, RGD 358 AQP1 aquaporin 1 (Colton blood group) umls:C0037929 Spinal Cord Injuries 0.31 2 Biomarker CTD_human, RGD 361 AQP4 aquaporin 4 umls:C0037929 Spinal Cord Injuries 0.31 1 Biomarker CTD_human, RGD 361 AQP4 aquaporin 4 umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 383 ARG1 arginase 1 umls:C0037116 Silicosis 0.31 2 Biomarker CTD_human, RGD 55054 ATG16L1 autophagy related 16-like 1 (S. cerevisiae) umls:C1970207 Inflammatory Bowel Disease 10 0.31 0 Biomarker CTD_human, MGD 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 567 B2M beta-2-microglobulin umls:C2609414 Acute Kidney Injury 0.31 3 Biomarker CTD_human, RGD 581 BAX BCL2-associated X protein umls:C0002395 Alzheimer Disease 0.31 2 Biomarker CTD_human, RGD 581 BAX BCL2-associated X protein umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 596 BCL2 B-cell CLL/lymphoma 2 umls:C0011853 Diabetes Mellitus, Experimental 0.31 4 Biomarker CTD_human, RGD 596 BCL2 B-cell CLL/lymphoma 2 umls:C0242350 Erectile Dysfunction 0.31 1 Biomarker CTD_human, RGD 598 BCL2L1 BCL2-like 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 598 BCL2L1 BCL2-like 1 umls:C0242350 Erectile Dysfunction 0.31 1 Biomarker CTD_human, RGD 598 BCL2L1 BCL2-like 1 umls:C0027051 Myocardial Infarction 0.31 2 Biomarker CTD_human, RGD 623 BDKRB1 bradykinin receptor B1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 4 Biomarker CTD_human, RGD 623 BDKRB1 bradykinin receptor B1 umls:C0020429 Hyperalgesia 0.31 4 Biomarker CTD_human, RGD 623 BDKRB1 bradykinin receptor B1 umls:C0030193 Pain 0.31 2 Biomarker CTD_human, RGD 624 BDKRB2 bradykinin receptor B2 umls:C0020429 Hyperalgesia 0.31 4 Biomarker CTD_human, RGD 8678 BECN1 beclin 1, autophagy related umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 655 BMP7 bone morphogenetic protein 7 umls:C0015802 Femoral Fractures 0.31 2 Biomarker, Therapeutic CTD_human, RGD 672 BRCA1 breast cancer 1, early onset umls:C0024668 Mammary Neoplasms, Experimental 0.31 1 Biomarker CTD_human, RGD 796 CALCA calcitonin-related polypeptide alpha umls:C0020429 Hyperalgesia 0.31 4 Biomarker, Therapeutic CTD_human, RGD 796 CALCA calcitonin-related polypeptide alpha umls:C0021368 Inflammation 0.31 2 Biomarker CTD_human, RGD 100506742 CASP12 caspase 12 (gene/pseudogene) umls:C0011854 Diabetes Mellitus, Type 1 0.31 2 Biomarker CTD_human, RGD 100506742 CASP12 caspase 12 (gene/pseudogene) umls:C0027055 Myocardial Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0011882 Diabetic Neuropathies 0.31 2 Biomarker CTD_human, RGD 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0027055 Myocardial Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0037929 Spinal Cord Injuries 0.31 2 Biomarker CTD_human, RGD 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0038220 Status Epilepticus 0.31 2 Biomarker CTD_human, RGD 847 CAT catalase umls:C0007786 Brain Ischemia 0.31 2 Biomarker CTD_human, RGD 847 CAT catalase umls:C0011853 Diabetes Mellitus, Experimental 0.31 4 Biomarker, Therapeutic CTD_human, RGD 847 CAT catalase umls:C0020550 Hyperthyroidism 0.31 2 Biomarker CTD_human, RGD 847 CAT catalase umls:C0027051 Myocardial Infarction 0.31 2 Biomarker, Therapeutic CTD_human, RGD 847 CAT catalase umls:C0027055 Myocardial Reperfusion Injury 0.31 2 Biomarker, Therapeutic CTD_human, RGD 847 CAT catalase umls:C0035126 Reperfusion Injury 0.31 4 Biomarker CTD_human, RGD 847 CAT catalase umls:C0038358 Stomach Ulcer 0.31 2 Biomarker, Therapeutic CTD_human, RGD 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0018800 Cardiomegaly 0.31 1 Biomarker CTD_human, RGD 887 CCKBR cholecystokinin B receptor umls:C0020429 Hyperalgesia 0.31 2 Biomarker CTD_human, RGD 6346 CCL1 chemokine (C-C motif) ligand 1 umls:C0017658 Glomerulonephritis 0.31 2 Biomarker CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0270611 Brain Injuries 0.31 3 Biomarker, Therapeutic CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0023893 Liver Cirrhosis, Experimental 0.31 2 Biomarker CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0027055 Myocardial Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0035126 Reperfusion Injury 0.31 3 Biomarker, Therapeutic CTD_human, RGD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0038220 Status Epilepticus 0.31 3 Biomarker CTD_human, RGD 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0038220 Status Epilepticus 0.31 2 Biomarker CTD_human, RGD 6352 CCL5 chemokine (C-C motif) ligand 5 umls:C0020500 Hyperoxaluria 0.31 1 Biomarker CTD_human, RGD 6354 CCL7 chemokine (C-C motif) ligand 7 umls:C0017658 Glomerulonephritis 0.31 2 Biomarker CTD_human, RGD 6354 CCL7 chemokine (C-C motif) ligand 7 umls:C0027707 Nephritis, Interstitial 0.31 1 Biomarker CTD_human, RGD 595 CCND1 cyclin D1 umls:C0024668 Mammary Neoplasms, Experimental 0.31 5 Biomarker CTD_human, RGD 894 CCND2 cyclin D2 umls:C0009375 Colonic Neoplasms 0.31 1 Biomarker CTD_human, RGD 898 CCNE1 cyclin E1 umls:C0919267 Ovarian Neoplasms 0.31 2 Biomarker CTD_human, RGD 902 CCNH cyclin H umls:C0024668 Mammary Neoplasms, Experimental 0.31 1 Biomarker CTD_human, RGD 952 CD38 CD38 molecule umls:C0151744 Myocardial Ischemia 0.31 2 Biomarker CTD_human, RGD 1019 CDK4 cyclin-dependent kinase 4 umls:C0024668 Mammary Neoplasms, Experimental 0.31 2 Biomarker CTD_human, RGD 1136 CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) umls:C0036572 Seizures 0.31 2 Biomarker CTD_human, RGD 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.31 1 Biomarker CTD_human, MGD 1191 CLU clusterin umls:C2609414 Acute Kidney Injury 0.31 6 Biomarker CTD_human, RGD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0020649 Hypotension 0.31 2 Biomarker CTD_human, RGD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 1356 CP ceruloplasmin (ferroxidase) umls:C0993582 Arthritis, Experimental 0.31 2 Biomarker CTD_human, RGD 1373 CPS1 carbamoyl-phosphate synthase 1, mitochondrial umls:C0023893 Liver Cirrhosis, Experimental 0.31 2 Biomarker CTD_human, RGD 1392 CRH corticotropin releasing hormone umls:C0236736 Cocaine-Related Disorders 0.31 6 Biomarker CTD_human, RGD 1394 CRHR1 corticotropin releasing hormone receptor 1 umls:C0236736 Cocaine-Related Disorders 0.31 2 Biomarker CTD_human, RGD 1439 CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) umls:C1968602 Surfactant Metabolism Dysfunction, Pulmonary, 1 0.31 0 Biomarker CTD_human, MGD 1490 CTGF connective tissue growth factor umls:C0003504 Aortic Valve Insufficiency 0.31 2 Biomarker CTD_human, RGD 6376 CX3CL1 chemokine (C-X3-C motif) ligand 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0007786 Brain Ischemia 0.31 2 Biomarker CTD_human, RGD 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0014859 Esophageal Neoplasms 0.31 2 Biomarker CTD_human, RGD 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0021368 Inflammation 0.31 3 Biomarker CTD_human, RGD 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0035126 Reperfusion Injury 0.31 3 Biomarker CTD_human, RGD 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0036982 Shock, Hemorrhagic 0.31 2 Biomarker CTD_human, RGD 1535 CYBA cytochrome b-245, alpha polypeptide umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 1536 CYBB cytochrome b-245, beta polypeptide umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 1536 CYBB cytochrome b-245, beta polypeptide umls:C0022661 Kidney Failure, Chronic 0.31 2 Biomarker CTD_human, RGD 1536 CYBB cytochrome b-245, beta polypeptide umls:C0035126 Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0242706 Hyperoxia 0.31 3 Biomarker CTD_human, RGD 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0018800 Cardiomegaly 0.31 2 Biomarker, Therapeutic CTD_human, RGD 1634 DCN decorin umls:C0016059 Fibrosis 0.31 1 Biomarker CTD_human, RGD 1649 DDIT3 DNA-damage-inducible transcript 3 umls:C0027720 Nephrosis 0.31 1 Biomarker CTD_human, RGD 1756 DMD dystrophin umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0009375 Colonic Neoplasms 0.31 1 Biomarker, Therapeutic CTD_human, RGD 1813 DRD2 dopamine receptor D2 umls:C0242422 Parkinsonian Disorders 0.31 4 Biomarker, Therapeutic CTD_human, RGD 1813 DRD2 dopamine receptor D2 umls:C0039231 Tachycardia 0.31 3 Biomarker CTD_human, RGD 1814 DRD3 dopamine receptor D3 umls:C0036572 Seizures 0.31 2 Biomarker, Therapeutic CTD_human, RGD 1906 EDN1 endothelin 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 4 Biomarker, Therapeutic CTD_human, RGD 1906 EDN1 endothelin 1 umls:C0027055 Myocardial Reperfusion Injury 0.31 3 Biomarker CTD_human, RGD 1906 EDN1 endothelin 1 umls:C0027720 Nephrosis 0.31 2 Biomarker CTD_human, RGD 1906 EDN1 endothelin 1 umls:C0035126 Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 1906 EDN1 endothelin 1 umls:C0035222 Respiratory Distress Syndrome, Adult 0.31 3 Biomarker, Therapeutic CTD_human, RGD 1909 EDNRA endothelin receptor type A umls:C0242350 Erectile Dysfunction 0.31 2 Biomarker CTD_human, RGD 1950 EGF epidermal growth factor umls:C0043251 Wounds and Injuries 0.31 2 Biomarker, Therapeutic CTD_human, RGD 1958 EGR1 early growth response 1 umls:C0035126 Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 5168 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 umls:C0023893 Liver Cirrhosis, Experimental 0.31 3 Biomarker, Therapeutic CTD_human, RGD 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0024668 Mammary Neoplasms, Experimental 0.31 2 Biomarker CTD_human, RGD 2099 ESR1 estrogen receptor 1 umls:C0024668 Mammary Neoplasms, Experimental 0.31 1 Biomarker CTD_human, RGD 2099 ESR1 estrogen receptor 1 umls:C0282612 Prostatic Intraepithelial Neoplasia 0.31 2 Biomarker CTD_human, RGD 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0024668 Mammary Neoplasms, Experimental 0.31 2 Biomarker, Therapeutic CTD_human, RGD 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0282612 Prostatic Intraepithelial Neoplasia 0.31 2 Biomarker, Therapeutic CTD_human, RGD 2147 F2 coagulation factor II (thrombin) umls:C0027720 Nephrosis 0.31 1 Biomarker CTD_human, RGD 355 FAS Fas cell surface death receptor umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 2243 FGA fibrinogen alpha chain umls:C0034065 Pulmonary Embolism 0.31 2 Biomarker CTD_human, RGD 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0018800 Cardiomegaly 0.31 2 Biomarker CTD_human, RGD 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0043251 Wounds and Injuries 0.31 2 Biomarker, Therapeutic CTD_human, RGD 2253 FGF8 fibroblast growth factor 8 (androgen-induced) umls:C0012236 DiGeorge Syndrome 0.31 1 Biomarker CTD_human, MGD 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0035126 Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 25794 FSCN2 fascin actin-bundling protein 2, retinal umls:C1842816 Retinitis Pigmentosa 30 0.31 0 Biomarker CTD_human, MGD 2560 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 umls:C0019151 Hepatic Encephalopathy 0.31 1 Biomarker CTD_human, RGD 51083 GAL galanin/GMAP prepropeptide umls:C0020538 Hypertension 0.31 2 Biomarker CTD_human, RGD 2645 GCK glucokinase (hexokinase 4) umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 2671 GFER growth factor, augmenter of liver regeneration umls:C2609414 Acute Kidney Injury 0.31 1 Biomarker, Therapeutic CTD_human, RGD 2678 GGT1 gamma-glutamyltransferase 1 umls:C0268524 Glutathionuria 0.31 0 Biomarker CTD_human, MGD 2690 GHR growth hormone receptor umls:C0023893 Liver Cirrhosis, Experimental 0.31 2 Biomarker CTD_human, RGD 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0003811 Arrhythmias, Cardiac 0.31 3 Biomarker, Therapeutic CTD_human, RGD 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0020538 Hypertension 0.31 2 Biomarker, Therapeutic CTD_human, RGD 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0023904 Liver Neoplasms, Experimental 0.31 2 Biomarker CTD_human, RGD 10804 GJB6 gap junction protein, beta 6, 30kDa umls:C2673759 Deafness, Autosomal Recessive 1A 0.31 0 Biomarker CTD_human, MGD 2740 GLP1R glucagon-like peptide 1 receptor umls:C0020538 Hypertension 0.31 2 Biomarker CTD_human, RGD 2752 GLUL glutamate-ammonia ligase umls:C0028754 Obesity 0.31 2 Biomarker CTD_human, RGD 2876 GPX1 glutathione peroxidase 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 4 Biomarker CTD_human, RGD 2936 GSR glutathione reductase umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0023904 Liver Neoplasms, Experimental 0.31 5 Biomarker CTD_human, RGD 3033 HADH hydroxyacyl-CoA dehydrogenase umls:C0028754 Obesity 0.31 2 Biomarker CTD_human, RGD 26762 HAVCR1 hepatitis A virus cellular receptor 1 umls:C2609414 Acute Kidney Injury 0.31 10 Biomarker CTD_human, RGD 26762 HAVCR1 hepatitis A virus cellular receptor 1 umls:C0033687 Proteinuria 0.31 2 Biomarker CTD_human, RGD 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0027055 Myocardial Reperfusion Injury 0.31 5 Biomarker, Therapeutic CTD_human, RGD 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0037929 Spinal Cord Injuries 0.31 1 Biomarker CTD_human, RGD 3156 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase umls:C0022661 Kidney Failure, Chronic 0.31 2 Biomarker CTD_human, RGD 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 5 Biomarker, Therapeutic CTD_human, RGD 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0023893 Liver Cirrhosis, Experimental 0.31 3 Biomarker, Therapeutic CTD_human, RGD 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0024668 Mammary Neoplasms, Experimental 0.31 3 Biomarker CTD_human, RGD 11255 HRH3 histamine receptor H3 umls:C0002622 Amnesia 0.31 2 Biomarker CTD_human, RGD 11255 HRH3 histamine receptor H3 umls:C0020538 Hypertension 0.31 1 Biomarker CTD_human, RGD 3291 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 umls:C0027051 Myocardial Infarction 0.31 1 Biomarker CTD_human, RGD 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C0376618 Endotoxemia 0.31 2 Biomarker CTD_human, RGD 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0020429 Hyperalgesia 0.31 3 Biomarker CTD_human, RGD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0242488 Acute Lung Injury 0.31 2 Biomarker, Therapeutic CTD_human, RGD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 5 Biomarker, Therapeutic CTD_human, RGD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0027055 Myocardial Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 3458 IFNG interferon, gamma umls:C0993582 Arthritis, Experimental 0.31 3 Biomarker CTD_human, RGD 3458 IFNG interferon, gamma umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker, Therapeutic CTD_human, RGD 3480 IGF1R insulin-like growth factor 1 receptor umls:C0030567 Parkinson Disease 0.31 2 Biomarker CTD_human, RGD 3586 IL10 interleukin 10 umls:C0020429 Hyperalgesia 0.31 4 Biomarker, Therapeutic CTD_human, RGD 3586 IL10 interleukin 10 umls:C0023893 Liver Cirrhosis, Experimental 0.31 10 Therapeutic CTD_human, RGD 3596 IL13 interleukin 13 umls:C0993582 Arthritis, Experimental 0.31 2 Therapeutic CTD_human, RGD 3552 IL1A interleukin 1, alpha umls:C0018843 Heat Stroke 0.31 2 Biomarker CTD_human, RGD 3553 IL1B interleukin 1, beta umls:C0993582 Arthritis, Experimental 0.31 5 Biomarker CTD_human, RGD 3553 IL1B interleukin 1, beta umls:C0018800 Cardiomegaly 0.31 2 Biomarker CTD_human, RGD 3553 IL1B interleukin 1, beta umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 3553 IL1B interleukin 1, beta umls:C0860207 Drug-Induced Liver Injury 0.31 2 Biomarker CTD_human, RGD 3553 IL1B interleukin 1, beta umls:C0020429 Hyperalgesia 0.31 8 Biomarker CTD_human, RGD 3553 IL1B interleukin 1, beta umls:C0333355 Mucositis 0.31 2 Biomarker CTD_human, RGD 3553 IL1B interleukin 1, beta umls:C0032231 Pleurisy 0.31 3 Biomarker CTD_human, RGD 3557 IL1RN interleukin 1 receptor antagonist umls:C0020429 Hyperalgesia 0.31 6 Biomarker, Therapeutic CTD_human, RGD 3569 IL6 interleukin 6 umls:C0011853 Diabetes Mellitus, Experimental 0.31 4 Biomarker CTD_human, RGD 3569 IL6 interleukin 6 umls:C0020429 Hyperalgesia 0.31 4 Biomarker CTD_human, RGD 3569 IL6 interleukin 6 umls:C0036982 Shock, Hemorrhagic 0.31 2 Biomarker CTD_human, RGD 3630 INS insulin umls:C0162557 Liver Failure, Acute 0.31 2 Biomarker CTD_human, RGD 3643 INSR insulin receptor umls:C0011853 Diabetes Mellitus, Experimental 0.31 5 Biomarker CTD_human, RGD 3643 INSR insulin receptor umls:C0011882 Diabetic Neuropathies 0.31 1 Biomarker CTD_human, RGD 3659 IRF1 interferon regulatory factor 1 umls:C0270611 Brain Injuries 0.31 2 Biomarker CTD_human, RGD 3667 IRS1 insulin receptor substrate 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker, Therapeutic CTD_human, RGD 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0032285 Pneumonia 0.31 2 Biomarker CTD_human, RGD 3694 ITGB6 integrin, beta 6 umls:C0023893 Liver Cirrhosis, Experimental 0.31 2 Biomarker CTD_human, RGD 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 3791 KDR kinase insert domain receptor umls:C0035126 Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 3934 LCN2 lipocalin 2 umls:C2609414 Acute Kidney Injury 0.31 4 Biomarker CTD_human, RGD 3952 LEP leptin umls:C0023893 Liver Cirrhosis, Experimental 0.31 2 Biomarker CTD_human, RGD 3958 LGALS3 lectin, galactoside-binding, soluble, 3 umls:C0023893 Liver Cirrhosis, Experimental 0.31 2 Biomarker CTD_human, RGD 4012 LNPEP leucyl/cystinyl aminopeptidase umls:C0024668 Mammary Neoplasms, Experimental 0.31 1 Biomarker CTD_human, RGD 5599 MAPK8 mitogen-activated protein kinase 8 umls:C0035126 Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 5601 MAPK9 mitogen-activated protein kinase 9 umls:C0032927 Precancerous Conditions 0.31 2 Biomarker CTD_human, RGD 4208 MEF2C myocyte enhancer factor 2C umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 4314 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) umls:C0020429 Hyperalgesia 0.31 2 Biomarker CTD_human, RGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C1527311 Brain Edema 0.31 2 Biomarker, Therapeutic CTD_human, RGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0011853 Diabetes Mellitus, Experimental 0.31 5 Biomarker, Therapeutic CTD_human, RGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0024668 Mammary Neoplasms, Experimental 0.31 2 Biomarker CTD_human, RGD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0026766 Multiple Organ Failure 0.31 2 Biomarker CTD_human, RGD 4353 MPO myeloperoxidase umls:C2609414 Acute Kidney Injury 0.31 2 Biomarker CTD_human, RGD 4353 MPO myeloperoxidase umls:C0006434 Burns 0.31 2 Biomarker CTD_human, RGD 4353 MPO myeloperoxidase umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 4353 MPO myeloperoxidase umls:C0035126 Reperfusion Injury 0.31 7 Biomarker CTD_human, RGD 4358 MPV17 MpV17 mitochondrial inner membrane protein umls:C3151513 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 0.31 0 Biomarker CTD_human, MGD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C1866558 Neural tube defect, folate-sensitive 0.31 0 Biomarker CTD_human, MGD 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0149721 Hypertrophy, Left Ventricular 0.31 2 Biomarker CTD_human, RGD 79661 NEIL1 nei endonuclease VIII-like 1 (E. coli) umls:C0028754 Obesity 0.31 2 Biomarker CTD_human, MGD 10763 NES nestin umls:C0027720 Nephrosis 0.31 2 Biomarker CTD_human, RGD 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0034069 Pulmonary Fibrosis 0.31 2 Biomarker CTD_human, RGD 4803 NGF nerve growth factor (beta polypeptide) umls:C0010692 Cystitis 0.31 2 Biomarker CTD_human, RGD 4803 NGF nerve growth factor (beta polypeptide) umls:C0020429 Hyperalgesia 0.31 4 Biomarker, Therapeutic CTD_human, RGD 4803 NGF nerve growth factor (beta polypeptide) umls:C0878773 Urinary Bladder, Overactive 0.31 3 Biomarker, Therapeutic CTD_human, RGD 7080 NKX2-1 NK2 homeobox 1 umls:C0019284 Hernia, Diaphragmatic 0.31 3 Biomarker CTD_human, RGD 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0020429 Hyperalgesia 0.31 2 Biomarker CTD_human, RGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0003949 Asbestosis 0.31 2 Biomarker CTD_human, RGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0376618 Endotoxemia 0.31 3 Biomarker CTD_human, RGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0023893 Liver Cirrhosis, Experimental 0.31 3 Biomarker, Therapeutic CTD_human, RGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0027055 Myocardial Reperfusion Injury 0.31 6 Biomarker, Therapeutic CTD_human, RGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0035126 Reperfusion Injury 0.31 4 Biomarker CTD_human, RGD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0036983 Shock, Septic 0.31 2 Biomarker CTD_human, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0011853 Diabetes Mellitus, Experimental 0.31 9 Biomarker CTD_human, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0019284 Hernia, Diaphragmatic 0.31 2 Biomarker CTD_human, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0023893 Liver Cirrhosis, Experimental 0.31 3 Biomarker CTD_human, RGD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0027055 Myocardial Reperfusion Injury 0.31 3 Biomarker, Therapeutic CTD_human, RGD 4878 NPPA natriuretic peptide A umls:C2609414 Acute Kidney Injury 0.31 4 Biomarker, Therapeutic CTD_human, RGD 4878 NPPA natriuretic peptide A umls:C0018800 Cardiomegaly 0.31 5 Biomarker, Therapeutic CTD_human, RGD 4878 NPPA natriuretic peptide A umls:C0020544 Hypertension, Renal 0.31 2 Biomarker CTD_human, RGD 4879 NPPB natriuretic peptide B umls:C0018800 Cardiomegaly 0.31 7 Biomarker, Therapeutic CTD_human, RGD 4886 NPY1R neuropeptide Y receptor Y1 umls:C0011581 Depressive Disorder 0.31 2 Biomarker CTD_human, RGD 4909 NTF4 neurotrophin 4 umls:C0027746 Nerve Degeneration 0.31 1 Therapeutic CTD_human, CTD_mouse 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0030193 Pain 0.31 3 Biomarker, Therapeutic CTD_human, RGD 64805 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 umls:C0040053 Thrombosis 0.31 2 Biomarker CTD_human, RGD 5080 PAX6 paired box 6 umls:C1835698 Keratitis, hereditary 0.31 0 Biomarker CTD_human, MGD 5105 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 5126 PCSK2 proprotein convertase subtilisin/kexin type 2 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0220708 VATER association 0.31 1 Biomarker CTD_human, MGD 5159 PDGFRB platelet-derived growth factor receptor, beta polypeptide umls:C0023893 Liver Cirrhosis, Experimental 0.31 3 Biomarker CTD_human, RGD 57107 PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 umls:C3551954 COENZYME Q10 DEFICIENCY, PRIMARY, 1 0.31 0 Biomarker CTD_human, MGD 3651 PDX1 pancreatic and duodenal homeobox 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 4 Biomarker CTD_human, RGD 5245 PHB prohibitin umls:C0024668 Mammary Neoplasms, Experimental 0.31 1 Biomarker CTD_human, RGD 5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma umls:C0016059 Fibrosis 0.31 2 Biomarker CTD_human, RGD 5313 PKLR pyruvate kinase, liver and RBC umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 5327 PLAT plasminogen activator, tissue umls:C0035126 Reperfusion Injury 0.31 2 Biomarker, Therapeutic CTD_human, RGD 5328 PLAU plasminogen activator, urokinase umls:C0403823 Asthenozoospermia 0.31 1 Biomarker CTD_human, RGD 5328 PLAU plasminogen activator, urokinase umls:C1527311 Brain Edema 0.31 2 Biomarker CTD_human, RGD 5328 PLAU plasminogen activator, urokinase umls:C0151699 Intracranial Hemorrhages 0.31 5 Biomarker CTD_human, RGD 5328 PLAU plasminogen activator, urokinase umls:C0035126 Reperfusion Injury 0.31 2 Biomarker, Therapeutic CTD_human, RGD 5328 PLAU plasminogen activator, urokinase umls:C0040053 Thrombosis 0.31 7 Biomarker, Therapeutic CTD_human, RGD 5329 PLAUR plasminogen activator, urokinase receptor umls:C0027626 Neoplasm Invasiveness 0.31 2 Biomarker CTD_human, RGD 5350 PLN phospholamban umls:C0027051 Myocardial Infarction 0.31 3 Biomarker, Therapeutic CTD_human, RGD 5350 PLN phospholamban umls:C0027055 Myocardial Reperfusion Injury 0.31 2 Biomarker, Therapeutic CTD_human, RGD 5444 PON1 paraoxonase 1 umls:C0020476 Hyperlipoproteinemias 0.31 2 Biomarker CTD_human, RGD 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0035126 Reperfusion Injury 0.31 2 Biomarker, Therapeutic CTD_human, RGD 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C2609414 Acute Kidney Injury 0.31 4 Biomarker, Therapeutic CTD_human, RGD 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0242488 Acute Lung Injury 0.31 2 Biomarker, Therapeutic CTD_human, RGD 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0011853 Diabetes Mellitus, Experimental 0.31 4 Biomarker CTD_human, RGD 10891 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker, Therapeutic CTD_human, RGD 5530 PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme umls:C0270611 Brain Injuries 0.31 2 Biomarker CTD_human, RGD 5534 PPP3R1 protein phosphatase 3, regulatory subunit B, alpha umls:C0151744 Myocardial Ischemia 0.31 1 Biomarker CTD_human, RGD 5562 PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit umls:C0021655 Insulin Resistance 0.31 2 Biomarker CTD_human, RGD 5578 PRKCA protein kinase C, alpha umls:C0018800 Cardiomegaly 0.31 2 Biomarker CTD_human, RGD 5579 PRKCB protein kinase C, beta umls:C0018800 Cardiomegaly 0.31 2 Biomarker CTD_human, RGD 5579 PRKCB protein kinase C, beta umls:C0020456 Hyperglycemia 0.31 2 Biomarker CTD_human, RGD 5580 PRKCD protein kinase C, delta umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 5580 PRKCD protein kinase C, delta umls:C0020538 Hypertension 0.31 3 Biomarker CTD_human, RGD 5728 PTEN phosphatase and tensin homolog umls:C0021655 Insulin Resistance 0.31 2 Biomarker CTD_human, RGD 5728 PTEN phosphatase and tensin homolog umls:C0035126 Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0014859 Esophageal Neoplasms 0.31 2 Biomarker CTD_human, RGD 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0020429 Hyperalgesia 0.31 2 Biomarker CTD_human, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0270611 Brain Injuries 0.31 4 Biomarker CTD_human, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0011853 Diabetes Mellitus, Experimental 0.31 5 Biomarker CTD_human, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0035126 Reperfusion Injury 0.31 8 Biomarker CTD_human, RGD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0038220 Status Epilepticus 0.31 2 Biomarker CTD_human, RGD 5741 PTH parathyroid hormone umls:C0020598 Hypocalcemia 0.31 3 Biomarker CTD_human, RGD 2185 PTK2B protein tyrosine kinase 2 beta umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 5879 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) umls:C0018801 Heart Failure 0.31 2 Biomarker CTD_human, RGD 5897 RAG2 recombination activating gene 2 umls:C1832322 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 0.31 0 Biomarker CTD_human, MGD 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0020538 Hypertension 0.31 2 Biomarker CTD_human, RGD 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0035126 Reperfusion Injury 0.31 3 Biomarker CTD_human, RGD 6051 RNPEP arginyl aminopeptidase (aminopeptidase B) umls:C0024668 Mammary Neoplasms, Experimental 0.31 1 Biomarker CTD_human, RGD 6285 S100B S100 calcium binding protein B umls:C1527311 Brain Edema 0.31 2 Biomarker CTD_human, RGD 6285 S100B S100 calcium binding protein B umls:C0018944 Hematoma 0.31 2 Biomarker CTD_human, RGD 6401 SELE selectin E umls:C0035126 Reperfusion Injury 0.31 3 Biomarker CTD_human, RGD 6403 SELP selectin P (granule membrane protein 140kDa, antigen CD62) umls:C0027055 Myocardial Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 23411 SIRT1 sirtuin 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker, Therapeutic CTD_human, RGD 51548 SIRT6 sirtuin 6 umls:C0018800 Cardiomegaly 0.31 1 Biomarker, Therapeutic CTD_human, RGD 6514 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 6517 SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 umls:C0011853 Diabetes Mellitus, Experimental 0.31 5 Biomarker CTD_human, RGD 6569 SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 umls:C0085682 Hypophosphatemia 0.31 2 Biomarker CTD_human, RGD 6529 SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 umls:C0038587 Substance Withdrawal Syndrome 0.31 2 Biomarker, Therapeutic CTD_human, RGD 6546 SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 umls:C0027055 Myocardial Reperfusion Injury 0.31 3 Biomarker CTD_human, RGD 6546 SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 umls:C0038220 Status Epilepticus 0.31 2 Biomarker CTD_human, RGD 6547 SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 umls:C0038220 Status Epilepticus 0.31 2 Biomarker CTD_human, RGD 6548 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 umls:C0036982 Shock, Hemorrhagic 0.31 2 Biomarker CTD_human, RGD 6550 SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 9351 SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 umls:C0020538 Hypertension 0.31 2 Biomarker CTD_human, RGD 26050 SLITRK5 SLIT and NTRK-like family, member 5 umls:C0028768 Obsessive-Compulsive Disorder 0.31 1 Biomarker CTD_human, MGD 6640 SNTA1 syntrophin, alpha 1 umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 6647 SOD1 superoxide dismutase 1, soluble umls:C0011156 Deficiency Diseases 0.31 2 Biomarker CTD_human, RGD 6647 SOD1 superoxide dismutase 1, soluble umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 6647 SOD1 superoxide dismutase 1, soluble umls:C0020550 Hyperthyroidism 0.31 2 Biomarker, Therapeutic CTD_human, RGD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0162871 Aortic Aneurysm, Abdominal 0.31 1 Biomarker CTD_human, RGD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker, Therapeutic CTD_human, RGD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0035126 Reperfusion Injury 0.31 5 Biomarker, Therapeutic CTD_human, RGD 6652 SORD sorbitol dehydrogenase umls:C0027055 Myocardial Reperfusion Injury 0.31 2 Biomarker CTD_human, RGD 6658 SOX3 SRY (sex determining region Y)-box 3 umls:C2678223 Mental Retardation, X-Linked, With Panhypopituitarism 0.31 0 Biomarker CTD_human, MGD 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0023893 Liver Cirrhosis, Experimental 0.31 2 Biomarker, Therapeutic CTD_human, RGD 6696 SPP1 secreted phosphoprotein 1 umls:C0006663 Calcinosis 0.31 3 Biomarker CTD_human, RGD 6714 SRC SRC proto-oncogene, non-receptor tyrosine kinase umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 6720 SREBF1 sterol regulatory element binding transcription factor 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 6720 SREBF1 sterol regulatory element binding transcription factor 1 umls:C0021655 Insulin Resistance 0.31 2 Biomarker CTD_human, RGD 6721 SREBF2 sterol regulatory element binding transcription factor 2 umls:C0022661 Kidney Failure, Chronic 0.31 2 Biomarker CTD_human, RGD 6754 SSTR4 somatostatin receptor 4 umls:C0038220 Status Epilepticus 0.31 1 Biomarker CTD_human, RGD 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C0993582 Arthritis, Experimental 0.31 2 Biomarker CTD_human, RGD 6776 STAT5A signal transducer and activator of transcription 5A umls:C0024668 Mammary Neoplasms, Experimental 0.31 4 Biomarker CTD_human, RGD 6863 TAC1 tachykinin, precursor 1 umls:C0428977 Bradycardia 0.31 3 Biomarker CTD_human, RGD 6863 TAC1 tachykinin, precursor 1 umls:C0020649 Hypotension 0.31 3 Biomarker CTD_human, RGD 6863 TAC1 tachykinin, precursor 1 umls:C0600467 Neurogenic Inflammation 0.31 6 Biomarker CTD_human, RGD 6869 TACR1 tachykinin receptor 1 umls:C0600467 Neurogenic Inflammation 0.31 3 Biomarker CTD_human, RGD 7018 TF transferrin umls:C0019158 Hepatitis 0.31 2 Biomarker CTD_human, RGD 7018 TF transferrin umls:C0028754 Obesity 0.31 2 Biomarker CTD_human, RGD 7039 TGFA transforming growth factor, alpha umls:C0023904 Liver Neoplasms, Experimental 0.31 2 Biomarker CTD_human, RGD 7040 TGFB1 transforming growth factor, beta 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 7040 TGFB1 transforming growth factor, beta 1 umls:C0011882 Diabetic Neuropathies 0.31 2 Biomarker CTD_human, RGD 7040 TGFB1 transforming growth factor, beta 1 umls:C0019284 Hernia, Diaphragmatic 0.31 2 Biomarker CTD_human, RGD 7040 TGFB1 transforming growth factor, beta 1 umls:C0023893 Liver Cirrhosis, Experimental 0.31 4 Biomarker, Therapeutic CTD_human, RGD 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0023893 Liver Cirrhosis, Experimental 0.31 2 Biomarker, Therapeutic CTD_human, RGD 7057 THBS1 thrombospondin 1 umls:C0011884 Diabetic Retinopathy 0.31 1 Biomarker CTD_human, RGD 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker CTD_human, RGD 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0042373 Vascular Diseases 0.31 1 Biomarker CTD_human, RGD 7097 TLR2 toll-like receptor 2 umls:C0270611 Brain Injuries 0.31 2 Biomarker CTD_human, RGD 7099 TLR4 toll-like receptor 4 umls:C0270611 Brain Injuries 0.31 2 Biomarker CTD_human, RGD 7124 TNF tumor necrosis factor umls:C0011853 Diabetes Mellitus, Experimental 0.31 8 Biomarker CTD_human, RGD 7124 TNF tumor necrosis factor umls:C0600467 Neurogenic Inflammation 0.31 2 Biomarker CTD_human, RGD 7124 TNF tumor necrosis factor umls:C0032231 Pleurisy 0.31 2 Biomarker CTD_human, RGD 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0993582 Arthritis, Experimental 0.31 2 Biomarker, Therapeutic CTD_human, RGD 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0270611 Brain Injuries 0.31 2 Biomarker CTD_human, RGD 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0007786 Brain Ischemia 0.31 2 Biomarker CTD_human, RGD 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0011853 Diabetes Mellitus, Experimental 0.31 2 Biomarker, Therapeutic CTD_human, RGD 7273 TTN titin umls:C1837342 Muscular Dystrophy, Limb-Girdle, Type 2J 0.31 0 Biomarker CTD_human, MGD 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 7422 VEGFA vascular endothelial growth factor A umls:C0270611 Brain Injuries 0.31 2 Biomarker, Therapeutic CTD_human, RGD 7422 VEGFA vascular endothelial growth factor A umls:C0011853 Diabetes Mellitus, Experimental 0.31 3 Biomarker CTD_human, RGD 7422 VEGFA vascular endothelial growth factor A umls:C0037929 Spinal Cord Injuries 0.31 1 Biomarker CTD_human, RGD 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C0027708 Wilms Tumor 0.31 1 Biomarker CTD_human, RGD 7431 VIM vimentin umls:C0027720 Nephrosis 0.31 1 Biomarker CTD_human, RGD 7432 VIP vasoactive intestinal peptide umls:C0242488 Acute Lung Injury 0.31 2 Biomarker, Therapeutic CTD_human, RGD 7498 XDH xanthine dehydrogenase umls:C0035126 Reperfusion Injury 0.31 2 Biomarker, Therapeutic CTD_human, RGD 167465 ZNF366 zinc finger protein 366 umls:C1458155 Breast Neoplasms 0.31 2 Biomarker CTD_human, CTD_mouse 7124 TNF tumor necrosis factor umls:C0028754 Obesity 0.309690639813114 158 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0010068 Coronary Disease 0.309574783548659 127 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0013080 Down Syndrome 0.309372035085863 56 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C0020433 Hyperbilirubinemia 0.308705564738524 107 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1356 CP ceruloplasmin (ferroxidase) umls:C0878682 Deficiency of ferroxidase 0.307938127962623 28 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 174 AFP alpha-fetoprotein umls:C2239176 Carcinoma, Hepatocellular 0.30783865597094 388 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 11093 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 umls:C0034155 Purpura, Thrombotic Thrombocytopenic 0.307471634210963 141 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0023418 Leukemia 0.307427636880176 327 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6690 SPINK1 serine peptidase inhibitor, Kazal type 1 umls:C0149521 Pancreatitis, Chronic 0.307288041888056 98 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0024121 Lung Neoplasms 0.306908259408632 94 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0007137 Carcinoma, Squamous Cell 0.306729863599373 78 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0038454 Stroke 0.306536989384926 70 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0085390 Li-Fraumeni Syndrome 0.306079378321421 282 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 1822 ATN1 atrophin 1 umls:C0751781 Dentatorubral-pallidoluysian atrophy 0.305953595971967 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, MGD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0024141 Lupus Erythematosus, Systemic 0.305860260071328 109 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0036341 Schizophrenia 0.305499633731793 59 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0027627 Neoplasm Metastasis 0.304288531179302 242 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 64127 NOD2 nucleotide-binding oligomerization domain containing 2 umls:C0009324 Colitis, Ulcerative 0.303875728080672 105 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0041296 Tuberculosis 0.303817799948444 69 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4126 MANBA mannosidase, beta A, lysosomal umls:C0342849 beta-Mannosidosis 0.303685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0038356 Stomach Neoplasms 0.303625798989268 43 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0030305 Pancreatitis 0.303476367246123 59 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 64374 SIL1 SIL1 nucleotide exchange factor umls:C0024814 marinesco-sjogren syndrome 0.303402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 26191 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) umls:C0011854 Diabetes Mellitus, Type 1 0.303112106568732 119 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C0003873 Arthritis, Rheumatoid 0.302996250304277 78 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0026769 Multiple Sclerosis 0.302967286238163 68 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4016 LOXL1 lysyl oxidase-like 1 umls:C0206368 Exfoliation Syndrome 0.302800511187795 64 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C1861172 Venous Thromboembolism 0.302793501841481 49 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0004096 Asthma 0.302654817601956 56 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 282617 IFNL3 interferon, lambda 3 umls:C0019196 Hepatitis C 0.302438945270865 237 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3630 INS insulin umls:C0028754 Obesity 0.302438945270865 1572 Biomarker, GeneticVariation BeFree, CTD_human, GAD 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C1328840 Autoimmune Lymphoproliferative Syndrome 0.302268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 5644 PRSS1 protease, serine, 1 (trypsin 1) umls:C0030305 Pancreatitis 0.302098555965388 77 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0001973 Alcoholism 0.301752511850491 138 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C1269683 Depressive Disorder, Major 0.301752511850491 130 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23569 PADI4 peptidyl arginine deiminase, type IV umls:C0003873 Arthritis, Rheumatoid 0.301744976469492 72 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 11315 PARK7 parkinson protein 7 umls:C0030567 Parkinson Disease 0.301727670659594 51 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 51684 SUFU suppressor of fused homolog (Drosophila) umls:C0004779 Basal Cell Nevus Syndrome 0.301417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 2266 FGG fibrinogen gamma chain umls:C0019250 Afibrinogenemia congenital 0.301134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 117581 TWIST2 twist family bHLH transcription factor 2 umls:C1744559 Facial ectodermal dysplasia 0.301134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 10083 USH1C Usher syndrome 1C (autosomal recessive, severe) umls:C1848604 Usher Syndrome, Type IC 0.300850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 2299 FOXI1 forkhead box I1 umls:C0271829 Pendred syndrome 0.300850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 1749 DLX5 distal-less homeobox 5 umls:C2931019 Split hand foot deformity 1 0.300850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0001418 Adenocarcinoma 0.300570506008362 202 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 23426 GRIP1 glutamate receptor interacting protein 1 umls:C0265233 Fraser Syndrome 0.300567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.30041574510732 77 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 55806 HR hair growth associated umls:C2750815 Marie Unna Hereditary Hypotrichosis 1 0.300283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 3918 LAMC2 laminin, gamma 2 umls:C0079683 Epidermolysis bullosa letalis 0.300283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 2200 FBN1 fibrillin 1 umls:C1869115 WEILL-MARCHESANI SYNDROME 2 0.300283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR, MGD 57017 COQ9 coenzyme Q9 umls:C3553374 COENZYME Q10 DEFICIENCY, PRIMARY, 5 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 388552 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 umls:C1538326 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 79803 HPS6 Hermansky-Pudlak syndrome 6 umls:C1425796 HPS6 GENE 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 84062 DTNBP1 dystrobrevin binding protein 1 umls:C3279756 HERMANSKY-PUDLAK SYNDROME 7 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 89781 HPS4 Hermansky-Pudlak syndrome 4 umls:C3484357 HERMANSKY-PUDLAK SYNDROME 4 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 65125 WNK1 WNK lysine deficient protein kinase 1 umls:C1840391 Pseudohypoaldosteronism, Type IIc 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 27185 DISC1 disrupted in schizophrenia 1 umls:C1858050 SCHIZOPHRENIA 9 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 29851 ICOS inducible T-cell co-stimulator umls:C3149378 IMMUNODEFICIENCY, COMMON VARIABLE, 1 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 22941 SHANK2 SH3 and multiple ankyrin repeat domains 2 umls:C3150693 AUTISM, SUSCEPTIBILITY TO, 17 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 1524 CX3CR1 chemokine (C-X3-C motif) receptor 1 umls:C3151079 MACULAR DEGENERATION, AGE-RELATED, 12 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 6340 SCNN1G sodium channel, non voltage gated 1 gamma subunit umls:C1449843 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 5828 PEX2 peroxisomal biogenesis factor 2 umls:C3553940 PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 4001 LMNB1 lamin B1 umls:C1868512 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 3566 IL4R interleukin 4 receptor umls:C1869116 ASTHMA, SUSCEPTIBILITY TO 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 2780 GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 umls:C1841721 Achromatopsia 4 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 90678 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 umls:C3280797 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 1120 CHKB choline kinase beta umls:C1865233 Muscular Dystrophy, Congenital, Megaconial Type 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 339829 CCDC39 coiled-coil domain containing 39 umls:C3151136 CILIARY DYSKINESIA, PRIMARY, 14 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 3290 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 umls:C3553382 CORTISONE REDUCTASE DEFICIENCY 2 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 85366 MYLK2 myosin light chain kinase 2 umls:C0878544 Cardiomyopathies 0.3 1 Biomarker, GeneticVariation CLINVAR, RGD 92749 DRC1 dynein regulatory complex subunit 1 umls:C3809087 CILIARY DYSKINESIA, PRIMARY, 21 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 4791 NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) umls:C3149378 IMMUNODEFICIENCY, COMMON VARIABLE, 1 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 161582 DYX1C1 dyslexia susceptibility 1 candidate 1 umls:C3809641 CILIARY DYSKINESIA, PRIMARY, 25 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 128637 TBC1D20 TBC1 domain family, member 20 umls:C3810265 WARBURG MICRO SYNDROME 4 0.3 0 Biomarker, GeneticVariation CLINVAR, MGD 2147 F2 coagulation factor II (thrombin) umls:C0040038 Thromboembolism 0.299993556297702 108 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0003873 Arthritis, Rheumatoid 0.29951301714062 172 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4292 MLH1 mutL homolog 1 umls:C0009404 Colorectal Neoplasms 0.299456806694134 71 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 5999 RGS4 regulator of G-protein signaling 4 umls:C0036341 Schizophrenia 0.299369980817917 50 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6390 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) umls:C0030421 Paraganglioma 0.299310268677824 117 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C0018213 Graves Disease 0.299114078521307 87 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0036341 Schizophrenia 0.298998222256852 62 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 929 CD14 CD14 molecule umls:C0004096 Asthma 0.298460177182779 59 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2629 GBA glucosidase, beta, acid umls:C0030567 Parkinson Disease 0.298402249050551 49 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C0019693 HIV Infections 0.29803798837316 117 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0038356 Stomach Neoplasms 0.298031852282116 39 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0001973 Alcoholism 0.29778344786918 121 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0021368 Inflammation 0.297748347712023 63 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0024121 Lung Neoplasms 0.297397107083477 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0028754 Obesity 0.296932934158899 107 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1636 ACE angiotensin I converting enzyme umls:C0022658 Kidney Diseases 0.296413556687354 143 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0011854 Diabetes Mellitus, Type 1 0.29627903282037 80 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1815 DRD4 dopamine receptor D4 umls:C0036341 Schizophrenia 0.296221104688143 73 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0005586 Bipolar Disorder 0.295966564184163 77 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0011884 Diabetic Retinopathy 0.295693807117689 77 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5444 PON1 paraoxonase 1 umls:C1956346 Coronary Artery Disease 0.295487809034947 67 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 4830 NME1 NME/NM23 nucleoside diphosphate kinase 1 umls:C0027627 Neoplasm Metastasis 0.295225770647293 254 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5371 PML promyelocytic leukemia umls:C0023487 Leukemia, Promyelocytic, Acute 0.295225770647293 402 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5914 RARA retinoic acid receptor, alpha umls:C0023487 Leukemia, Promyelocytic, Acute 0.295225770647293 372 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0022661 Kidney Failure, Chronic 0.294890474036016 98 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0009404 Colorectal Neoplasms 0.294490136126747 55 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0007570 Celiac Disease 0.294462149135353 80 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C0011860 Diabetes Mellitus, Type 2 0.294381393028056 133 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4137 MAPT microtubule-associated protein tau umls:C0949664 Tauopathies 0.294341814102571 194 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3106 HLA-B major histocompatibility complex, class I, B umls:C0004943 Behcet Syndrome 0.294265536763601 70 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2312 FLG filaggrin umls:C0013595 Eczema 0.293900853870974 165 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0004096 Asthma 0.2936695635573 58 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0028754 Obesity 0.293530879317775 94 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6653 SORL1 sortilin-related receptor, L(DLR class) A repeats containing umls:C0002395 Alzheimer Disease 0.293494379870662 41 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0007137 Carcinoma, Squamous Cell 0.293386058987206 79 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5444 PON1 paraoxonase 1 umls:C0004153 Atherosclerosis 0.292798560739299 117 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0007570 Celiac Disease 0.292790085780905 70 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0206180 Lymphoma, Large-Cell, Anaplastic 0.292703193582564 273 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4607 MYBPC3 myosin binding protein C, cardiac umls:C0007194 Cardiomyopathy, Hypertrophic 0.29265276333401 66 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0014859 Esophageal Neoplasms 0.292564509343039 59 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7276 TTR transthyretin umls:C0206245 Amyloid Neuropathies, Familial 0.292524441880194 150 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0024301 Lymphoma, Follicular 0.2922921744918 346 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0007097 Carcinoma 0.292113356467306 107 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0014544 Epilepsy 0.292065198763979 66 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1756 DMD dystrophin umls:C0026850 Muscular Dystrophies 0.291675645855655 451 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 3417 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble umls:C0017638 Glioma 0.291264626764891 246 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3586 IL10 interleukin 10 umls:C0003873 Arthritis, Rheumatoid 0.290500583037716 84 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0007097 Carcinoma 0.290275917352445 80 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 1861 TOR1A torsin family 1, member A (torsin A) umls:C0013421 Dystonia 0.290207374360847 147 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0040053 Thrombosis 0.290180616517835 101 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0027794 Neural Tube Defects 0.290180616517835 42 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0026769 Multiple Sclerosis 0.289955040079968 63 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 79068 FTO fat mass and obesity associated umls:C0011860 Diabetes Mellitus, Type 2 0.289845319906557 106 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5241 PGR progesterone receptor umls:C1458155 Breast Neoplasms 0.289610846295061 89 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0020443 Hypercholesterolemia 0.289474923138122 67 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0009404 Colorectal Neoplasms 0.289418356798525 40 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C0014544 Epilepsy 0.289356372113206 135 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0027651 Neoplasms 0.289212528857357 115 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 4137 MAPT microtubule-associated protein tau umls:C0030567 Parkinson Disease 0.289104526369687 50 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4255 MGMT O-6-methylguanine-DNA methyltransferase umls:C0017636 Glioblastoma 0.289071083535246 203 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 169026 SLC30A8 solute carrier family 30 (zinc transporter), member 8 umls:C0011860 Diabetes Mellitus, Type 2 0.288994806196276 119 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3630 INS insulin umls:C0032460 Polycystic Ovary Syndrome 0.288947559245544 232 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C1261473 Sarcoma 0.28887723224608 169 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.288742049700162 318 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5888 RAD51 RAD51 recombinase umls:C0006142 Malignant neoplasm breast 0.288711301626182 80 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 1071 CETP cholesteryl ester transfer protein, plasma umls:C0007222 Cardiovascular Diseases 0.288683210815339 46 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0009404 Colorectal Neoplasms 0.288438478237584 53 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3557 IL1RN interleukin 1 receptor antagonist umls:C0038356 Stomach Neoplasms 0.287941544023199 49 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6775 STAT4 signal transducer and activator of transcription 4 umls:C0003873 Arthritis, Rheumatoid 0.287890625237285 54 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2147 F2 coagulation factor II (thrombin) umls:C0042487 Venous Thrombosis 0.287658039453105 106 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0021368 Inflammation 0.287658039453105 69 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6775 STAT4 signal transducer and activator of transcription 4 umls:C0024141 Lupus Erythematosus, Systemic 0.2872745851385 57 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2147 F2 coagulation factor II (thrombin) umls:C0038454 Stroke 0.286894417941165 60 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4436 MSH2 mutS homolog 2 umls:C0009404 Colorectal Neoplasms 0.286457262188998 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5444 PON1 paraoxonase 1 umls:C0010068 Coronary Disease 0.285944931561093 91 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0398623 Thrombophilia 0.285563787289038 122 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C1458155 Breast Neoplasms 0.285358277743656 84 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C0011860 Diabetes Mellitus, Type 2 0.285309246785058 67 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0002395 Alzheimer Disease 0.285281155974215 33 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0001973 Alcoholism 0.284996778148851 75 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.284694079941543 50 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3087 HHEX hematopoietically expressed homeobox umls:C0011860 Diabetes Mellitus, Type 2 0.284458733074777 99 Biomarker, GeneticVariation BeFree, CTD_human, GAD 672 BRCA1 breast cancer 1, early onset umls:C0027651 Neoplasms 0.284420383297674 47 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic BeFree, CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0242383 Macular Degeneration 0.28414626443857 49 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 126 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide umls:C0001973 Alcoholism 0.283608219364496 64 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0038356 Stomach Neoplasms 0.283463399033928 35 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0007097 Carcinoma 0.283218799100421 121 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0027051 Myocardial Infarction 0.282983282092081 48 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0027651 Neoplasms 0.28290479853001 61 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 672 BRCA1 breast cancer 1, early onset umls:C0007097 Carcinoma 0.282847913794627 91 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 629 CFB complement factor B umls:C0242383 Macular Degeneration 0.282728741588101 52 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 472 ATM ATM serine/threonine kinase umls:C1458155 Breast Neoplasms 0.282670324918514 42 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0011053 Deafness 0.282612885323647 120 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4613 MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog umls:C0027819 Neuroblastoma 0.282612885323647 666 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 862 RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) umls:C0023467 Leukemia, Myeloid, Acute 0.282612885323647 262 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4137 MAPT microtubule-associated protein tau umls:C0524851 Neurodegenerative Diseases 0.282463586224751 161 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 354 KLK3 kallikrein-related peptidase 3 umls:C0033578 Prostatic Neoplasms 0.282288758431224 72 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0007959 Charcot-Marie-Tooth Disease 0.281829918219337 141 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 11200 CHEK2 checkpoint kinase 2 umls:C1458155 Breast Neoplasms 0.281819811208233 53 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0003850 Arteriosclerosis 0.281585337596738 276 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3107 HLA-C major histocompatibility complex, class I, C umls:C0019693 HIV Infections 0.281311218737633 56 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2212 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) umls:C0024141 Lupus Erythematosus, Systemic 0.281164510579749 45 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1294 COL7A1 collagen, type VII, alpha 1 umls:C0079294 Epidermolysis Bullosa Dystrophica 0.28112681948158 94 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 718 C3 complement component 3 umls:C0242383 Macular Degeneration 0.281086515555037 41 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0036202 Sarcoidosis 0.281066448662553 50 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0302592 Cervix carcinoma 0.280853607674128 260 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 1401 CRP C-reactive protein, pentraxin-related umls:C0004153 Atherosclerosis 0.280842826374126 91 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0027051 Myocardial Infarction 0.280704949067747 49 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0027651 Neoplasms 0.28025519548197 58 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 149233 IL23R interleukin 23 receptor umls:C0009324 Colitis, Ulcerative 0.280166903993674 54 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 960 CD44 CD44 molecule (Indian blood group) umls:C0027627 Neoplasm Metastasis 0.280090308258917 222 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3630 INS insulin umls:C0020459 Hyperinsulinism 0.279884798713535 393 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2896 GRN granulin umls:C0497327 Dementia 0.279769008771205 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 595 CCND1 cyclin D1 umls:C1458155 Breast Neoplasms 0.279408486251119 58 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0028754 Obesity 0.279355650813091 53 Biomarker, GeneticVariation BeFree, CTD_human, GAD 149233 IL23R interleukin 23 receptor umls:C0021390 Inflammatory Bowel Diseases 0.279345842886866 60 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 590 BCHE butyrylcholinesterase umls:C0002395 Alzheimer Disease 0.279336945713237 48 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0007222 Cardiovascular Diseases 0.279267847862155 67 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7185 TRAF1 TNF receptor-associated factor 1 umls:C0003873 Arthritis, Rheumatoid 0.279209431192567 40 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0525045 Mood Disorders 0.279120266449 86 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 595 CCND1 cyclin D1 umls:C0007097 Carcinoma 0.279044225573728 112 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 367 AR androgen receptor umls:C0021364 Infertility, Male 0.278778345209319 56 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1277 COL1A1 collagen, type I, alpha 1 umls:C0029456 Osteoporosis 0.27876944803569 39 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 324 APC adenomatous polyposis coli umls:C0001430 Adenoma 0.278699543251461 142 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4683 NBN nibrin umls:C0006142 Malignant neoplasm breast 0.27850513710281 44 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 2147 F2 coagulation factor II (thrombin) umls:C1861172 Venous Thromboembolism 0.278428015333369 29 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0009375 Colonic Neoplasms 0.277764898425425 63 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0007137 Carcinoma, Squamous Cell 0.277588352946157 65 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0042487 Venous Thrombosis 0.277567731194188 51 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0009324 Colitis, Ulcerative 0.277077806326117 60 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7466 WFS1 Wolfram syndrome 1 (wolframin) umls:C0011860 Diabetes Mellitus, Type 2 0.276804109682248 48 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.276773746326179 66 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C1527249 Colorectal Cancer 0.276088608376311 98 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C1458155 Breast Neoplasms 0.275152113220284 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C1458155 Breast Neoplasms 0.275103082261686 54 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0002395 Alzheimer Disease 0.275074118195572 33 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3575 IL7R interleukin 7 receptor umls:C0026769 Multiple Sclerosis 0.274986315244636 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3630 INS insulin umls:C0020538 Hypertension 0.274839644584077 249 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5979 RET ret proto-oncogene umls:C0027662 Multiple Endocrine Neoplasia 0.274788895939737 149 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0033860 Psoriasis 0.274720605021801 87 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2332 FMR1 fragile X mental retardation 1 umls:C0085215 Primary Ovarian Insufficiency 0.274662676889573 71 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 221895 JAZF1 JAZF zinc finger 1 umls:C0011860 Diabetes Mellitus, Type 2 0.274536073121499 40 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C1458155 Breast Neoplasms 0.274510424997455 34 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.274418817567089 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0038356 Stomach Neoplasms 0.274382910476785 37 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 3375 IAPP islet amyloid polypeptide umls:C0011860 Diabetes Mellitus, Type 2 0.273812651716652 76 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0007097 Carcinoma 0.273773006469043 117 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0242383 Macular Degeneration 0.272941582576527 76 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 149233 IL23R interleukin 23 receptor umls:C0033860 Psoriasis 0.272825726312072 41 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0007786 Brain Ischemia 0.272522577064729 28 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3630 INS insulin umls:C0271650 Glucose Intolerance 0.272522577064729 250 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0007786 Brain Ischemia 0.272522577064729 35 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2147 F2 coagulation factor II (thrombin) umls:C0027051 Myocardial Infarction 0.272414218683948 47 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4359 MPZ myelin protein zero umls:C0007959 Charcot-Marie-Tooth Disease 0.272236866271534 132 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 25 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.272197221023925 173 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0023903 Liver Neoplasms 0.272169063890958 89 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0005695 Urinary Bladder Neoplasms 0.272034117808738 80 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0008924 Cleft Lip 0.271916307394844 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 338 APOB apolipoprotein B umls:C0010068 Coronary Disease 0.271914523386978 90 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0011860 Diabetes Mellitus, Type 2 0.271846721006401 42 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0016059 Fibrosis 0.271831369345942 28 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C3714514 Infection 0.271831369345942 25 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 387129 NPSR1 neuropeptide S receptor 1 umls:C0004096 Asthma 0.271663232502943 36 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5376 PMP22 peripheral myelin protein 22 umls:C0007959 Charcot-Marie-Tooth Disease 0.271502208825708 164 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10855 HPSE heparanase umls:C0027627 Neoplasm Metastasis 0.271369535288714 91 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0010346 Crohn Disease 0.27099669583348 39 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 94 ACVRL1 activin A receptor type II-like 1 umls:C0039445 Telangiectasia, Hereditary Hemorrhagic 0.270949130486962 60 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0524620 Metabolic Syndrome X 0.270566098387592 64 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0001418 Adenocarcinoma 0.270498466148589 103 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 5311 PKD2 polycystic kidney disease 2 (autosomal dominant) umls:C0085413 Polycystic Kidney, Autosomal Dominant 0.270143102644827 180 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0004153 Atherosclerosis 0.270078549884196 73 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0037286 Skin Neoplasms 0.270048120206003 58 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3106 HLA-B major histocompatibility complex, class I, B umls:C0038325 Stevens-Johnson Syndrome 0.270007986421034 78 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.27 246 Biomarker BeFree, CTD_human 672 BRCA1 breast cancer 1, early onset umls:C0024667 Mammary Neoplasms, Animal 0.27 79 Biomarker, GeneticVariation CTD_human, GAD 1956 EGFR epidermal growth factor receptor umls:C0152013 Adenocarcinoma of lung 0.27 316 Biomarker BeFree, CTD_human 3630 INS insulin umls:C0020456 Hyperglycemia 0.27 369 Biomarker, Therapeutic BeFree, CTD_human 3630 INS insulin umls:C0524620 Metabolic Syndrome X 0.27 438 Biomarker BeFree, CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0021655 Insulin Resistance 0.27 43 GeneticVariation, Therapeutic CTD_human, GAD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0032914 Pre-Eclampsia 0.269570764346742 19 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1610 DAO D-amino-acid oxidase umls:C0036341 Schizophrenia 0.269530630561773 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3077 HFE hemochromatosis umls:C0162566 Porphyria Cutanea Tarda 0.269423182933588 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0017638 Glioma 0.269422376000442 111 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0001430 Adenoma 0.269049218149421 147 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2913 GRM3 glutamate receptor, metabotropic 3 umls:C0036341 Schizophrenia 0.269013140917544 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0021390 Inflammatory Bowel Diseases 0.268854389785535 96 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0014859 Esophageal Neoplasms 0.268474118768751 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3557 IL1RN interleukin 1 receptor antagonist umls:C0003873 Arthritis, Rheumatoid 0.268298061826842 46 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 4595 MUTYH mutY homolog umls:C0032580 Adenomatous Polyposis Coli 0.26822945251312 78 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.267846102017964 165 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5133 PDCD1 programmed cell death 1 umls:C0024141 Lupus Erythematosus, Systemic 0.267468103546406 34 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1312 COMT catechol-O-methyltransferase umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.267299966703407 60 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2 A2M alpha-2-macroglobulin umls:C0002395 Alzheimer Disease 0.266949636827457 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3559 IL2RA interleukin 2 receptor, alpha umls:C0026769 Multiple Sclerosis 0.266880538976374 46 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1312 COMT catechol-O-methyltransferase umls:C0005586 Bipolar Disorder 0.266831508017776 48 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0036341 Schizophrenia 0.266774068422909 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 56999 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 umls:C0011860 Diabetes Mellitus, Type 2 0.266743638744715 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1636 ACE angiotensin I converting enzyme umls:C0017661 Glomerulonephritis, IGA 0.266625998472394 47 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7253 TSHR thyroid stimulating hormone receptor umls:C0018213 Graves Disease 0.266390229390393 118 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10858 CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1 umls:C0002395 Alzheimer Disease 0.265893613571794 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3949 LDLR low density lipoprotein receptor umls:C0004153 Atherosclerosis 0.265852184316319 131 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 3593 IL12B interleukin 12B umls:C0033860 Psoriasis 0.265718045167246 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3586 IL10 interleukin 10 umls:C0019693 HIV Infections 0.265168341836957 80 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0004096 Asthma 0.26510102799374 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0000809 Abortion, Habitual 0.265045154129459 29 AlteredExpression, GeneticVariation CLINVAR, GAD, LHGDN 5444 PON1 paraoxonase 1 umls:C0007222 Cardiovascular Diseases 0.264769469539768 52 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C0029456 Osteoporosis 0.264711541407541 33 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C0027627 Neoplasm Metastasis 0.264681281870921 104 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5621 PRNP prion protein umls:C0002395 Alzheimer Disease 0.264661533374223 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3077 HFE hemochromatosis umls:C0392514 Hereditary hemochromatosis 0.264634135038695 428 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 65018 PINK1 PTEN induced putative kinase 1 umls:C0242422 Parkinsonian Disorders 0.264544870176622 75 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1471 CST3 cystatin C umls:C0002395 Alzheimer Disease 0.264505054787439 30 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0033578 Prostatic Neoplasms 0.26449860030061 45 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0028768 Obsessive-Compulsive Disorder 0.264485476432315 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 63892 THADA thyroid adenoma associated umls:C0011860 Diabetes Mellitus, Type 2 0.264426571225368 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1278 COL1A2 collagen, type I, alpha 2 umls:C0029434 Osteogenesis Imperfecta 0.264328845890375 153 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 3664 IRF6 interferon regulatory factor 6 umls:C0008924 Cleft Lip 0.263811019663942 31 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 846 CASR calcium-sensing receptor umls:C0020437 Hypercalcemia 0.26373497878867 53 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2147 F2 coagulation factor II (thrombin) umls:C0007786 Brain Ischemia 0.263703572035756 24 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2068 ERCC2 excision repair cross-complementation group 2 umls:C0007137 Carcinoma, Squamous Cell 0.263626065548405 23 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0149721 Hypertrophy, Left Ventricular 0.263585443226076 49 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 4255 MGMT O-6-methylguanine-DNA methyltransferase umls:C0017638 Glioma 0.26358463629293 124 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 975 CD81 CD81 molecule umls:C0019196 Hepatitis C 0.263500505177174 45 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2214 FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) umls:C0024141 Lupus Erythematosus, Systemic 0.263429453176652 39 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0020538 Hypertension 0.263400489110538 37 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 717 C2 complement component 2 umls:C0242383 Macular Degeneration 0.263371036507065 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C0007570 Celiac Disease 0.26335145815194 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0030297 Pancreatic Neoplasms 0.262932030424907 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0033578 Prostatic Neoplasms 0.262719577855336 29 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 3559 IL2RA interleukin 2 receptor, alpha umls:C0011854 Diabetes Mellitus, Type 1 0.262665831664712 63 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5644 PRSS1 protease, serine, 1 (trypsin 1) umls:C0149521 Pancreatitis, Chronic 0.262617289243474 73 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2784 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 umls:C0028754 Obesity 0.262529419970413 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C1458155 Breast Neoplasms 0.262436073285242 27 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 672 BRCA1 breast cancer 1, early onset umls:C0346153 Breast Cancer, Familial 0.262317067519348 257 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 5728 PTEN phosphatase and tensin homolog umls:C0007097 Carcinoma 0.262042848541737 71 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7490 WT1 Wilms tumor 1 umls:C0023467 Leukemia, Myeloid, Acute 0.262041871467017 59 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0032914 Pre-Eclampsia 0.262003033152554 21 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C1458155 Breast Neoplasms 0.261898028211169 36 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2623 GATA1 GATA binding protein 1 (globin transcription factor 1) umls:C0013080 Down Syndrome 0.261895267128583 78 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0085580 Hypertension, Essential 0.261842986550039 145 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4853 NOTCH2 notch 2 umls:C0011860 Diabetes Mellitus, Type 2 0.261825999135926 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0040053 Thrombosis 0.261797523607173 22 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0027627 Neoplasm Metastasis 0.261446875335436 64 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6716 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) umls:C0033578 Prostatic Neoplasms 0.261302055004868 24 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0004153 Atherosclerosis 0.261141838260778 60 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0017638 Glioma 0.261131157079283 99 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C1458155 Breast Neoplasms 0.261125509525599 32 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 675 BRCA2 breast cancer 2, early onset umls:C0376358 Malignant neoplasm of prostate 0.260936495156027 80 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 6041 RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) umls:C0033578 Prostatic Neoplasms 0.260813040889392 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4153 MBL2 mannose-binding lectin (protein C) 2, soluble umls:C0019693 HIV Infections 0.260574340583231 42 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C1168401 Carcinoma, squamous cell of head and neck 0.260512844435271 170 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2896 GRN granulin umls:C0751072 Frontotemporal Lobar Degeneration 0.26042546369957 139 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3586 IL10 interleukin 10 umls:C0009324 Colitis, Ulcerative 0.260085326467755 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0027651 Neoplasms 0.260078383443566 52 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1861 TOR1A torsin family 1, member A (torsin A) umls:C0393593 Dystonic Disorders 0.260063964104765 140 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0004153 Atherosclerosis 0.260007819980403 52 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C2239176 Carcinoma, Hepatocellular 0.259929336418332 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2555 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 umls:C0001973 Alcoholism 0.259830785963775 46 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0004153 Atherosclerosis 0.259753279476423 63 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0032914 Pre-Eclampsia 0.259480456087825 18 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0004114 Astrocytoma 0.259381753678113 138 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0242422 Parkinsonian Disorders 0.25934372599774 78 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 240 ALOX5 arachidonate 5-lipoxygenase umls:C0004096 Asthma 0.259333363212031 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5649 RELN reelin umls:C0036341 Schizophrenia 0.259235789832194 52 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0149521 Pancreatitis, Chronic 0.259137239377638 60 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4153 MBL2 mannose-binding lectin (protein C) 2, soluble umls:C3714514 Infection 0.259012974476914 21 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0036341 Schizophrenia 0.259000827683339 38 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 345611 IRGM immunity-related GTPase family, M umls:C0010346 Crohn Disease 0.258795318137957 41 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C0014550 Epilepsies, Myoclonic 0.25872995844418 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4544 MTNR1B melatonin receptor 1B umls:C0011860 Diabetes Mellitus, Type 2 0.258462294071905 41 Biomarker, GeneticVariation BeFree, CTD_human, GAD 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0033578 Prostatic Neoplasms 0.258212468799951 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0001973 Alcoholism 0.258198856394296 31 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0007138 Carcinoma, Transitional Cell 0.258169085395036 95 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 3630 INS insulin umls:C0020615 Hypoglycemia 0.25816681284981 168 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3107 HLA-C major histocompatibility complex, class I, C umls:C0003872 Arthritis, Psoriatic 0.258149825435698 33 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0014170 Endometrial Neoplasms 0.258113429808035 28 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0021368 Inflammation 0.257985426750005 22 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 57817 HAMP hepcidin antimicrobial peptide umls:C0282193 Iron Overload 0.257680071279561 96 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0038454 Stroke 0.257632824328829 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 148738 HFE2 hemochromatosis type 2 (juvenile) umls:C0018995 Hemochromatosis 0.257575384733961 33 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C1458155 Breast Neoplasms 0.257555317841477 44 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4023 LPL lipoprotein lipase umls:C0020538 Hypertension 0.257476345742045 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 94103 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 umls:C0004096 Asthma 0.25745627884956 39 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0029456 Osteoporosis 0.257358216932364 58 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0021364 Infertility, Male 0.257328275791531 40 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2321 FLT1 fms-related tyrosine kinase 1 umls:C0032914 Pre-Eclampsia 0.257312435593712 20 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0027404 Narcolepsy 0.257250280766819 40 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0004096 Asthma 0.257064838113921 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4137 MAPT microtubule-associated protein tau umls:C0242422 Parkinsonian Disorders 0.256850112999124 86 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3040 HBA2 hemoglobin, alpha 2 umls:C0005283 beta-Thalassemia 0.256769356891826 141 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0002395 Alzheimer Disease 0.256752858015074 23 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7515 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 umls:C0038356 Stomach Neoplasms 0.256752369477714 19 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0018798 Heart Defects, Congenital 0.256732302585229 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2272 FHIT fragile histidine triad umls:C0007097 Carcinoma 0.256714189842185 69 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0009375 Colonic Neoplasms 0.256576312535806 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3586 IL10 interleukin 10 umls:C0010346 Crohn Disease 0.256507214684723 47 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4851 NOTCH1 notch 1 umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.256398471586032 110 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0009404 Colorectal Neoplasms 0.256392824032348 39 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0021368 Inflammation 0.256284887866803 21 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 57817 HAMP hepcidin antimicrobial peptide umls:C0018995 Hemochromatosis 0.256253651255463 72 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0085220 Cerebral Amyloid Angiopathy 0.256174679156031 56 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6696 SPP1 secreted phosphoprotein 1 umls:C0027627 Neoplasm Metastasis 0.256095388660813 129 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3949 LDLR low density lipoprotein receptor umls:C0010068 Coronary Disease 0.256027586280237 82 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0033578 Prostatic Neoplasms 0.256002360371429 30 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0033578 Prostatic Neoplasms 0.255981804941585 38 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2952 GSTT1 glutathione S-transferase theta 1 umls:C0024121 Lung Neoplasms 0.255873868776039 20 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0007097 Carcinoma 0.255687130652636 77 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C2239176 Carcinoma, Hepatocellular 0.255478860024668 131 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4352 MPL MPL proto-oncogene, thrombopoietin receptor umls:C0040028 Thrombocythemia, Essential 0.25545167996642 50 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1536 CYBB cytochrome b-245, beta polypeptide umls:C0018203 Granulomatous Disease, Chronic 0.255313972801615 102 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C0242383 Macular Degeneration 0.255304587090626 75 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0007137 Carcinoma, Squamous Cell 0.25522984168586 25 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0007097 Carcinoma 0.255180810727262 33 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5727 PTCH1 patched 1 umls:C0007117 Carcinoma, Basal Cell 0.254995368074364 19 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C1458155 Breast Neoplasms 0.254946337115766 26 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5172 SLC26A4 solute carrier family 26 (anion exchanger), member 4 umls:C1384666 Hearing Loss 0.25484632104913 20 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0011849 Diabetes Mellitus 0.254454073380345 72 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.254308764512416 25 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0028754 Obesity 0.254248075297603 64 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7350 UCP1 uncoupling protein 1 (mitochondrial, proton carrier) umls:C0028754 Obesity 0.254248075297603 66 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 2308 FOXO1 forkhead box O1 umls:C0206655 Rhabdomyosarcoma, Alveolar 0.25405292853793 104 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0007786 Brain Ischemia 0.254024282867603 20 Biomarker, GeneticVariation CTD_human, GAD 1138 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) umls:C0040336 Tobacco Use Disorder 0.254024282867603 20 Biomarker, GeneticVariation CTD_human, GAD 3106 HLA-B major histocompatibility complex, class I, B umls:C0013182 Drug Hypersensitivity 0.253975251909005 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7128 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 umls:C0003873 Arthritis, Rheumatoid 0.253877189991808 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3077 HFE hemochromatosis umls:C0002395 Alzheimer Disease 0.253741266834869 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C1956346 Coronary Artery Disease 0.253721199942385 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3458 IFNG interferon, gamma umls:C0019693 HIV Infections 0.253563425885095 102 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3586 IL10 interleukin 10 umls:C0021390 Inflammatory Bowel Diseases 0.253525076107992 58 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2177 FANCD2 Fanconi anemia, complementation group D2 umls:C0015625 Fanconi Anemia 0.253485919397743 105 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3456 IFNB1 interferon, beta 1, fibroblast umls:C0026769 Multiple Sclerosis 0.25342523018293 149 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 675 BRCA2 breast cancer 2, early onset umls:C0346153 Breast Cancer, Familial 0.253347890136208 180 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 3664 IRF6 interferon regulatory factor 6 umls:C0008925 Cleft Palate 0.252997712215414 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0033578 Prostatic Neoplasms 0.252678300555017 18 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3717 JAK2 Janus kinase 2 umls:C0836924 Thrombocytosis 0.252382649191348 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 367 AR androgen receptor umls:C1458155 Breast Neoplasms 0.252325209596481 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0007137 Carcinoma, Squamous Cell 0.252324721059121 26 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6792 CDKL5 cyclin-dependent kinase-like 5 umls:C0035372 Rett Syndrome 0.252235556315553 59 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6757 SSX2 synovial sarcoma, X breakpoint 2 umls:C0039101 Sarcoma, Synovial 0.252155288745616 123 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0004153 Atherosclerosis 0.252108041794884 66 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3416 IDE insulin-degrading enzyme umls:C0002395 Alzheimer Disease 0.251658672927017 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0007097 Carcinoma 0.251611107580499 50 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0033578 Prostatic Neoplasms 0.25160172186951 28 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0007222 Cardiovascular Diseases 0.251589575075934 50 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0085084 Motor Neuron Disease 0.251414495208746 75 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0030567 Parkinson Disease 0.251374679819563 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0009375 Colonic Neoplasms 0.25134620429081 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 129787 TMEM18 transmembrane protein 18 umls:C0028754 Obesity 0.251325648860965 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1312 COMT catechol-O-methyltransferase umls:C0030319 Panic Disorder 0.251170147348901 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2904 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B umls:C0036341 Schizophrenia 0.251170147348901 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 710 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 umls:C0019243 Angioedemas, Hereditary 0.251050234531355 132 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 6223 RPS19 ribosomal protein S19 umls:C1260899 Anemia, Diamond-Blackfan 0.251012373291612 92 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2646 GCKR glucokinase (hexokinase 4) regulator umls:C0011860 Diabetes Mellitus, Type 2 0.250993113332273 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0007137 Carcinoma, Squamous Cell 0.250936650812126 32 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2074 ERCC6 excision repair cross-complementation group 6 umls:C0009207 Cockayne Syndrome 0.250896517027157 62 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3663 IRF5 interferon regulatory factor 5 umls:C0003873 Arthritis, Rheumatoid 0.250886642778808 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C2239176 Carcinoma, Hepatocellular 0.250818033465085 54 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0009404 Colorectal Neoplasms 0.250722732630475 19 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 4607 MYBPC3 myosin binding protein C, cardiac umls:C0878544 Cardiomyopathies 0.250718994473169 58 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2078 ERG v-ets avian erythroblastosis virus E26 oncogene homolog umls:C0033578 Prostatic Neoplasms 0.25070266573799 33 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2571 GAD1 glutamate decarboxylase 1 (brain, 67kDa) umls:C0036341 Schizophrenia 0.250661554878301 43 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0023267 Leiomyoma 0.250632590812188 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3077 HFE hemochromatosis umls:C0019196 Hepatitis C 0.250631613737468 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0027627 Neoplasm Metastasis 0.250473839680178 100 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6310 ATXN1 ataxin 1 umls:C0087012 Spinocerebellar Ataxias 0.250378050308208 53 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0011860 Diabetes Mellitus, Type 2 0.250377073233488 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0023890 Liver Cirrhosis 0.250290669572507 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C1458155 Breast Neoplasms 0.250233718514999 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0023418 Leukemia 0.250163155051837 23 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0017636 Glioblastoma 0.250083864556619 92 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3458 IFNG interferon, gamma umls:C0019163 Hepatitis B 0.249917511721486 50 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 255738 PCSK9 proprotein convertase subtilisin/kexin type 9 umls:C0020443 Hypercholesterolemia 0.249889036192732 49 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6275 S100A4 S100 calcium binding protein A4 umls:C0027627 Neoplasm Metastasis 0.249887252184866 116 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C1458155 Breast Neoplasms 0.249852152027709 33 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 2132 EXT2 exostosin glycosyltransferase 2 umls:C0015306 Exostoses, Multiple Hereditary 0.249614917333628 71 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3684 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) umls:C0024141 Lupus Erythematosus, Systemic 0.249448564498495 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3480 IGF1R insulin-like growth factor 1 receptor umls:C1458155 Breast Neoplasms 0.24933417384612 22 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C1458155 Breast Neoplasms 0.249285142887522 27 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 7113 TMPRSS2 transmembrane protease, serine 2 umls:C0033578 Prostatic Neoplasms 0.249256178821408 21 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0014170 Endometrial Neoplasms 0.24920617078809 18 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0016382 Flushing 0.249144993035917 46 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0022661 Kidney Failure, Chronic 0.248980105812864 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0001430 Adenoma 0.248969424631369 69 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1312 COMT catechol-O-methyltransferase umls:C0001973 Alcoholism 0.248881555358308 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5172 SLC26A4 solute carrier family 26 (anion exchanger), member 4 umls:C0018784 Hearing Loss, Sensorineural 0.248881555358308 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2162 F13A1 coagulation factor XIII, A1 polypeptide umls:C0027051 Myocardial Infarction 0.24882362722608 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C2239176 Carcinoma, Hepatocellular 0.248804537408316 45 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8626 TP63 tumor protein p63 umls:C0007097 Carcinoma 0.248747097813448 33 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0017661 Glomerulonephritis, IGA 0.248725565308884 23 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1524 CX3CR1 chemokine (C-X3-C motif) receptor 1 umls:C0019693 HIV Infections 0.248725076771524 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7166 TPH1 tryptophan hydroxylase 1 umls:C0036341 Schizophrenia 0.24869660124277 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 627 BDNF brain-derived neurotrophic factor umls:C0030567 Parkinson Disease 0.248667637176657 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C1269683 Depressive Disorder, Major 0.248627014854328 37 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4988 OPRM1 opioid receptor, mu 1 umls:C0001973 Alcoholism 0.248528952937131 53 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1312 COMT catechol-O-methyltransferase umls:C0012236 DiGeorge Syndrome 0.248520055763502 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0019693 HIV Infections 0.248499988871018 43 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2896 GRN granulin umls:C0338451 Frontotemporal Dementia 0.24842020983844 115 Biomarker, GeneticVariation BeFree, CTD_human, GAD 659 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) umls:C0020542 Hypertension, Pulmonary 0.248364554251438 43 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.248363577176719 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3558 IL2 interleukin 2 umls:C0019693 HIV Infections 0.248342214813728 113 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.24831503475548 38 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3717 JAK2 Janus kinase 2 umls:C0042487 Venous Thrombosis 0.248306137581851 16 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0007097 Carcinoma 0.248287047764087 42 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 23274 CLEC16A C-type lectin domain family 16, member A umls:C0026769 Multiple Sclerosis 0.248285582152007 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3486 IGFBP3 insulin-like growth factor binding protein 3 umls:C0033578 Prostatic Neoplasms 0.248200155565745 19 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic BeFree, CTD_human, GAD, LHGDN 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C1458155 Breast Neoplasms 0.248122160541034 17 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C1458155 Breast Neoplasms 0.248122160541034 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4928 NUP98 nucleoporin 98kDa umls:C0023467 Leukemia, Myeloid, Acute 0.24807036849985 77 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0030567 Parkinson Disease 0.247973113515799 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0010278 Craniosynostoses 0.24794285397918 78 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 149233 IL23R interleukin 23 receptor umls:C0038013 Spondylitis, Ankylosing 0.24793297973083 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0027627 Neoplasm Metastasis 0.247844792061983 95 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 120892 LRRK2 leucine-rich repeat kinase 2 umls:C0242422 Parkinsonian Disorders 0.247786863929756 74 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0023903 Liver Neoplasms 0.247727470185449 48 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2006 ELN elastin umls:C0175702 Williams Syndrome 0.2476883134752 83 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0023895 Liver Diseases 0.24768782493784 84 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1234 CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) umls:C0019196 Hepatitis C 0.247669542053221 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0024530 Malaria 0.247649963698097 45 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0011881 Diabetic Nephropathies 0.247620511094623 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 23274 CLEC16A C-type lectin domain family 16, member A umls:C0011854 Diabetes Mellitus, Type 1 0.247542027532551 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7018 TF transferrin umls:C0002395 Alzheimer Disease 0.247484099400324 15 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0005695 Urinary Bladder Neoplasms 0.24732859788826 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4650 MYO9B myosin IXB umls:C0007570 Celiac Disease 0.247308530995776 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1191 CLU clusterin umls:C0002395 Alzheimer Disease 0.247180527937746 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2643 GCH1 GTP cyclohydrolase 1 umls:C0013421 Dystonia 0.247132962591227 50 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1136 CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) umls:C0040336 Tobacco Use Disorder 0.24707308030956 17 Biomarker, GeneticVariation CTD_human, GAD 9231 DLG5 discs, large homolog 5 (Drosophila) umls:C0021390 Inflammatory Bowel Diseases 0.246898000442372 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 65266 WNK4 WNK lysine deficient protein kinase 4 umls:C0020538 Hypertension 0.246848480946414 37 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C1458155 Breast Neoplasms 0.246811596781391 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0011860 Diabetes Mellitus, Type 2 0.246749930491858 45 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1813 DRD2 dopamine receptor D2 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.246642482863672 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5979 RET ret proto-oncogene umls:C0206693 Carcinoma, Medullary 0.246584554731445 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 182 JAG1 jagged 1 umls:C0085280 Alagille Syndrome 0.246525331128711 70 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0011881 Diabetic Nephropathies 0.246495389987878 53 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 958 CD40 CD40 molecule, TNF receptor superfamily member 5 umls:C0003873 Arthritis, Rheumatoid 0.246486492814248 28 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C1458155 Breast Neoplasms 0.246479061252699 26 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0004153 Atherosclerosis 0.246466914459124 50 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5428 POLG polymerase (DNA directed), gamma umls:C0162674 Ophthalmoplegia, Chronic Progressive External 0.246458505822855 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 25970 SH2B1 SH2B adaptor protein 1 umls:C0028754 Obesity 0.246358978293578 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2944 GSTM1 glutathione S-transferase mu 1 umls:C0009404 Colorectal Neoplasms 0.246350569657309 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2158 F9 coagulation factor IX umls:C0019069 Hemophilia A 0.246348297112083 79 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4000 LMNA lamin A/C umls:C0271694 Lipodystrophy, Familial Partial 0.246192795600019 78 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0027404 Narcolepsy 0.246124993219443 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2056 EPO erythropoietin umls:C0002871 Anemia 0.245976116335782 169 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C0009952 Seizures, Febrile 0.245949424814895 46 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 875 CBS cystathionine-beta-synthase umls:C0019880 Homocystinuria 0.245937766558679 79 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 595 CCND1 cyclin D1 umls:C0026764 Multiple Myeloma 0.245831296005214 74 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 54829 ASPN asporin umls:C0029408 Osteoarthritis 0.245714462666039 26 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0027819 Neuroblastoma 0.245654750525946 89 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4023 LPL lipoprotein lipase umls:C0020473 Hyperlipidemias 0.245635979103967 30 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5329 PLAUR plasminogen activator, urokinase receptor umls:C0027651 Neoplasms 0.245599583476304 16 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3440 IFNA2 interferon, alpha 2 umls:C0524910 Hepatitis C, Chronic 0.245438071261709 134 Biomarker, Therapeutic BeFree, CTD_human 1956 EGFR epidermal growth factor receptor umls:C0919267 Ovarian Neoplasms 0.245423037997036 25 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0033578 Prostatic Neoplasms 0.245345042972324 25 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 3586 IL10 interleukin 10 umls:C0011854 Diabetes Mellitus, Type 1 0.245303443575276 31 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0038356 Stomach Neoplasms 0.245245026905688 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2010 EMD emerin umls:C0410189 Muscular Dystrophy, Emery-Dreifuss 0.245235322798913 64 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0034067 Pulmonary Emphysema 0.2451746335841 109 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0030567 Parkinson Disease 0.245167031880976 13 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 83990 BRIP1 BRCA1 interacting protein C-terminal helicase 1 umls:C0006142 Malignant neoplasm breast 0.245077867137409 46 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 7139 TNNT2 troponin T type 2 (cardiac) umls:C0007194 Cardiomyopathy, Hypertrophic 0.24506896996378 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0042373 Vascular Diseases 0.244979805220213 65 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3606 IL18 interleukin 18 umls:C0003873 Arthritis, Rheumatoid 0.244971396583944 41 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2067 ERCC1 excision repair cross-complementation group 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.24492009308012 116 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 7157 TP53 tumor protein p53 umls:C0030297 Pancreatic Neoplasms 0.244913468451716 31 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 26191 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) umls:C0024141 Lupus Erythematosus, Systemic 0.244843882063274 45 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0007137 Carcinoma, Squamous Cell 0.2448144294598 36 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2645 GCK glucokinase (hexokinase 4) umls:C0020456 Hyperglycemia 0.244803748278305 76 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3552 IL1A interleukin 1, alpha umls:C0021368 Inflammation 0.244756012790213 17 Biomarker, GeneticVariation CTD_human, GAD 4549 RNR1 s-rRNA umls:C0011053 Deafness 0.244756012790213 19 Biomarker, GeneticVariation CTD_human, GAD 4481 MSR1 macrophage scavenger receptor 1 umls:C0376358 Malignant neoplasm of prostate 0.244727703702089 31 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 7015 TERT telomerase reverse transcriptase umls:C0024121 Lung Neoplasms 0.244650030774107 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0027651 Neoplasms 0.244494529262043 20 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0003872 Arthritis, Psoriatic 0.244403898906396 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 51752 ERAP1 endoplasmic reticulum aminopeptidase 1 umls:C0038013 Spondylitis, Ankylosing 0.244383832013912 50 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 30009 TBX21 T-box 21 umls:C0004096 Asthma 0.244267975749457 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2130 EWSR1 EWS RNA-binding protein 1 umls:C0553580 Sarcoma, Ewing 0.24402054841124 121 Biomarker BeFree, CTD_human 2645 GCK glucokinase (hexokinase 4) umls:C0342276 Mason-Type Diabetes 0.24402054841124 120 Biomarker, GeneticVariation BeFree, CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0007097 Carcinoma 0.244014412320197 42 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2176 FANCC Fanconi anemia, complementation group C umls:C0015625 Fanconi Anemia 0.243895794973156 63 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0027651 Neoplasms 0.243800005601186 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0030297 Pancreatic Neoplasms 0.243750486105228 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6559 SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 umls:C0020538 Hypertension 0.243729930675383 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 332 BIRC5 baculoviral IAP repeat containing 5 umls:C2239176 Carcinoma, Hepatocellular 0.24370194368399 32 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0029456 Osteoporosis 0.2435734520886 19 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0001418 Adenocarcinoma 0.243525398204722 37 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 472 ATM ATM serine/threonine kinase umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.243513739948506 70 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3557 IL1RN interleukin 1 receptor antagonist umls:C0004096 Asthma 0.24344593756793 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3593 IL12B interleukin 12B umls:C0004096 Asthma 0.243367942543218 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0022658 Kidney Diseases 0.243327808758249 57 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0035328 Retinal Vein Occlusion 0.243289947518506 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0027651 Neoplasms 0.243270857700742 48 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0022658 Kidney Diseases 0.243240428022548 27 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 7015 TERT telomerase reverse transcriptase umls:C2239176 Carcinoma, Hepatocellular 0.243221826742143 52 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0005695 Urinary Bladder Neoplasms 0.243163410072556 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6469 SHH sonic hedgehog umls:C0079541 Holoprosencephaly 0.243074245328989 66 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3852 KRT5 keratin 5, type II umls:C0079298 Epidermolysis Bullosa Simplex 0.243045281262875 56 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5625 PRODH proline dehydrogenase (oxidase) 1 umls:C0036341 Schizophrenia 0.243035407014526 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4204 MECP2 methyl CpG binding protein 2 umls:C0004352 Autistic Disorder 0.242995761766917 59 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.242966797700804 50 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2592 GALT galactose-1-phosphate uridylyltransferase umls:C0016952 Galactosemias 0.242966309163444 50 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 720 C4A complement component 4A (Rodgers blood group) umls:C0024141 Lupus Erythematosus, Systemic 0.242957411989814 25 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 257194 NEGR1 neuronal growth regulator 1 umls:C0028754 Obesity 0.242956923452454 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8626 TP63 tumor protein p63 umls:C0007137 Carcinoma, Squamous Cell 0.24293832217205 51 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C0007097 Carcinoma 0.242851429973709 30 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0009404 Colorectal Neoplasms 0.242821977370235 16 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C0019080 Hemorrhage 0.242644454816247 13 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2641 GCG glucagon umls:C0011860 Diabetes Mellitus, Type 2 0.242564675783669 80 Biomarker, GeneticVariation BeFree, CTD_human, GAD 51131 PHF11 PHD finger protein 11 umls:C0004096 Asthma 0.242517428832937 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7128 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 umls:C0024141 Lupus Erythematosus, Systemic 0.242497361940453 28 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0013080 Down Syndrome 0.242468397874339 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0038356 Stomach Neoplasms 0.242438945270865 16 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD 79047 KCTD15 potassium channel tetramerization domain containing 15 umls:C0028754 Obesity 0.242389914312267 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3425 IDUA iduronidase, alpha-L- umls:C0023786 Mucopolysaccharidosis I 0.242281659750935 83 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0004096 Asthma 0.242213857370359 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0027627 Neoplasm Metastasis 0.242203664726224 80 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 132789 GNPDA2 glucosamine-6-phosphate deaminase 2 umls:C0028754 Obesity 0.242106409742173 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3730 KAL1 Kallmann syndrome 1 sequence umls:C0162809 Kallmann Syndrome 0.242096217098038 65 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0005684 Malignant neoplasm of bladder 0.242095728560678 57 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 7157 TP53 tumor protein p53 umls:C0040136 Thyroid Neoplasms 0.242087319924409 45 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4018 LPA lipoprotein, Lp(a) umls:C0010068 Coronary Disease 0.241988769469853 52 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5241 PGR progesterone receptor umls:C0014170 Endometrial Neoplasms 0.241971463659954 14 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0022661 Kidney Failure, Chronic 0.241901388734151 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5318 PKP2 plakophilin 2 umls:C0349788 Arrhythmogenic Right Ventricular Dysplasia 0.241873568183388 51 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0036421 Scleroderma, Systemic 0.241773874213482 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23400 ATP13A2 ATPase type 13A2 umls:C0030567 Parkinson Disease 0.241666915122656 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0023467 Leukemia, Myeloid, Acute 0.24166561965215 85 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7298 TYMS thymidylate synthetase umls:C0038356 Stomach Neoplasms 0.241638439593902 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7052 TGM2 transglutaminase 2 umls:C0007570 Celiac Disease 0.241636655586036 81 Biomarker BeFree, CTD_human, LHGDN 4018 LPA lipoprotein, Lp(a) umls:C1956346 Coronary Artery Disease 0.241598305808933 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0878544 Cardiomyopathies 0.241589575075934 49 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 2719 GPC3 glypican 3 umls:C2239176 Carcinoma, Hepatocellular 0.241578727453809 61 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3558 IL2 interleukin 2 umls:C0025202 Melanoma 0.241489074172882 117 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0033578 Prostatic Neoplasms 0.241482938081838 18 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0002395 Alzheimer Disease 0.241461405577274 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 640 BLK BLK proto-oncogene, Src family tyrosine kinase umls:C0024141 Lupus Erythematosus, Systemic 0.24144133868479 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0005586 Bipolar Disorder 0.24144133868479 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C1458155 Breast Neoplasms 0.24143390712324 27 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0007097 Carcinoma 0.24143390712324 24 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0017661 Glomerulonephritis, IGA 0.241383899089922 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5649 RELN reelin umls:C0004352 Autistic Disorder 0.241363832197438 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3458 IFNG interferon, gamma umls:C0021368 Inflammation 0.241354935023809 16 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 7253 TSHR thyroid stimulating hormone receptor umls:C0020550 Hyperthyroidism 0.241266258817601 55 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0004153 Atherosclerosis 0.241158322652056 37 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic BeFree, CTD_human, GAD, LHGDN 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0033578 Prostatic Neoplasms 0.241150402553147 24 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 472 ATM ATM serine/threonine kinase umls:C0027651 Neoplasms 0.241149914015787 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1201 CLN3 ceroid-lipofuscinosis, neuronal 3 umls:C0027877 Neuronal Ceroid-Lipofuscinoses 0.241002821139992 37 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6833 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 umls:C2931834 Congenital Hyperinsulinism 0.240913167859065 68 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0001418 Adenocarcinoma 0.240894396437087 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 338 APOB apolipoprotein B umls:C0007222 Cardiovascular Diseases 0.240874329544602 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0033578 Prostatic Neoplasms 0.240866897983053 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C1458155 Breast Neoplasms 0.240837933916939 16 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic BeFree, CTD_human, LHGDN 1812 DRD1 dopamine receptor D1 umls:C0036341 Schizophrenia 0.240796334519891 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0004238 Atrial Fibrillation 0.240738406387663 12 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C1458155 Breast Neoplasms 0.240738406387663 14 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0017154 Gastritis, Atrophic 0.240718339495179 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 23495 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B umls:C0009447 Common Variable Immunodeficiency 0.240698761140054 45 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0007097 Carcinoma 0.240611868941713 24 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 30061 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 umls:C0018995 Hemochromatosis 0.240611868941713 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0024121 Lung Neoplasms 0.240583393412959 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2175 FANCA Fanconi anemia, complementation group A umls:C0015625 Fanconi Anemia 0.240580632330373 74 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2561 GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2 umls:C0036341 Schizophrenia 0.240562349445755 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 159296 NKX2-3 NK2 homeobox 3 umls:C0010346 Crohn Disease 0.240561860908395 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2068 ERCC2 excision repair cross-complementation group 2 umls:C0037286 Skin Neoplasms 0.240532896842281 11 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0036341 Schizophrenia 0.240483865883683 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2313 FLI1 Fli-1 proto-oncogene, ETS transcription factor umls:C0553580 Sarcoma, Ewing 0.240384019958621 102 Biomarker, GeneticVariation BeFree, CTD_human, GAD 153 ADRB1 adrenoceptor beta 1 umls:C0028754 Obesity 0.240356351363013 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 51738 GHRL ghrelin/obestatin prepropeptide umls:C0028754 Obesity 0.240307320404415 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54790 TET2 tet methylcytosine dioxygenase 2 umls:C0026986 Myelodysplastic Syndromes 0.24029663922292 67 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2784 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 umls:C0011860 Diabetes Mellitus, Type 2 0.240278356338301 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 23600 AMACR alpha-methylacyl-CoA racemase umls:C0033578 Prostatic Neoplasms 0.240270924776752 14 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 6349 CCL3L1 chemokine (C-C motif) ligand 3-like 1 umls:C0019693 HIV Infections 0.240180294421105 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C0677607 Hashimoto Disease 0.240171885784836 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6756 SSX1 synovial sarcoma, X breakpoint 1 umls:C0039101 Sarcoma, Synovial 0.24016120460334 56 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.240149546347125 93 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1813 DRD2 dopamine receptor D2 umls:C0040336 Tobacco Use Disorder 0.240121877751518 14 Biomarker, GeneticVariation CTD_human, GAD 2944 GSTM1 glutathione S-transferase mu 1 umls:C0860207 Drug-Induced Liver Injury 0.240121877751518 13 Biomarker, GeneticVariation CTD_human, GAD 2944 GSTM1 glutathione S-transferase mu 1 umls:C0023903 Liver Neoplasms 0.240121877751518 14 Biomarker, GeneticVariation CTD_human, GAD 3358 HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled umls:C0043094 Weight Gain 0.240121877751518 15 Biomarker, GeneticVariation CTD_human, GAD 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.240100515388527 100 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9856 KIAA0319 KIAA0319 umls:C0476254 Dyslexia 0.240053268437795 33 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0007134 Carcinoma, Renal Cell 0.240013623190186 76 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0162871 Aortic Aneurysm, Abdominal 0.239995340305568 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6366 CCL21 chemokine (C-C motif) ligand 21 umls:C0003873 Arthritis, Rheumatoid 0.239916856743496 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0021364 Infertility, Male 0.239896789851011 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3861 KRT14 keratin 14, type I umls:C0079298 Epidermolysis Bullosa Simplex 0.239877700033247 54 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4487 MSX1 msh homeobox 1 umls:C0008925 Cleft Palate 0.239867825784898 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7012 TERC telomerase RNA component umls:C0265965 Dyskeratosis Congenita 0.239839838793504 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0010674 Cystic Fibrosis 0.239838861718784 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C1956346 Coronary Artery Disease 0.239798727933815 44 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 3557 IL1RN interleukin 1 receptor antagonist umls:C0038454 Stroke 0.239789830760186 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3630 INS insulin umls:C0015695 Fatty Liver 0.239767979859835 106 Biomarker BeFree, CTD_human 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0039743 Thanatophoric Dysplasia 0.239750185512577 54 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C0005695 Urinary Bladder Neoplasms 0.239604876644648 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0038356 Stomach Neoplasms 0.23955535714869 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C1458155 Breast Neoplasms 0.239527370157296 19 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0033578 Prostatic Neoplasms 0.239449375132585 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0011860 Diabetes Mellitus, Type 2 0.23942784262802 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0026769 Multiple Sclerosis 0.239378811669422 21 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0035579 Rickets 0.23930081664471 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0030567 Parkinson Disease 0.239271852578597 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 23788 MTCH2 mitochondrial carrier 2 umls:C0028754 Obesity 0.239222333082638 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C1458155 Breast Neoplasms 0.239165870562491 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1806 DPYD dihydropyrimidine dehydrogenase umls:C0009404 Colorectal Neoplasms 0.239116351066533 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 345 APOC3 apolipoprotein C-III umls:C1956346 Coronary Artery Disease 0.239095795636688 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 57817 HAMP hepcidin antimicrobial peptide umls:C0002871 Anemia 0.239056150389079 62 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5925 RB1 retinoblastoma 1 umls:C0007097 Carcinoma 0.238969258190738 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0024121 Lung Neoplasms 0.238911330058511 23 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0030567 Parkinson Disease 0.238910352983791 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0024141 Lupus Erythematosus, Systemic 0.238899183264936 48 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1316 KLF6 Kruppel-like factor 6 umls:C0033578 Prostatic Neoplasms 0.238882365992397 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C0035334 Retinitis Pigmentosa 0.238870219198822 39 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0021368 Inflammation 0.238832357959079 16 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3106 HLA-B major histocompatibility complex, class I, B umls:C0014518 Toxic Epidermal Necrolysis 0.238812457507225 51 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 7422 VEGFA vascular endothelial growth factor A umls:C0033860 Psoriasis 0.238734296041883 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0007097 Carcinoma 0.238714717686758 46 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4824 NKX3-1 NK3 homeobox 1 umls:C0033578 Prostatic Neoplasms 0.238627825488417 24 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2720 GLB1 galactosidase, beta 1 umls:C0085131 Gangliosidosis, GM1 0.238518105315006 66 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 675 BRCA2 breast cancer 2, early onset umls:C0030297 Pancreatic Neoplasms 0.238499333893027 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 351 APP amyloid beta (A4) precursor protein umls:C0497327 Dementia 0.238451280009149 30 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3952 LEP leptin umls:C1458155 Breast Neoplasms 0.238422315943036 23 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0032914 Pre-Eclampsia 0.238421338868316 10 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 773 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit umls:C0087012 Spinocerebellar Ataxias 0.238372796447077 25 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6338 SCNN1B sodium channel, non voltage gated 1 beta subunit umls:C0020538 Hypertension 0.238372307909717 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3458 IFNG interferon, gamma umls:C0025202 Melanoma 0.238361626728222 62 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5771 PTPN2 protein tyrosine phosphatase, non-receptor type 2 umls:C0010346 Crohn Disease 0.238322788413759 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD 332 BIRC5 baculoviral IAP repeat containing 5 umls:C1458155 Breast Neoplasms 0.23831535685221 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5328 PLAU plasminogen activator, urokinase umls:C0027627 Neoplasm Metastasis 0.23829252887714 85 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 595 CCND1 cyclin D1 umls:C0009404 Colorectal Neoplasms 0.23818784233154 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5888 RAD51 RAD51 recombinase umls:C1458155 Breast Neoplasms 0.238109847306828 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3908 LAMA2 laminin, alpha 2 umls:C0026850 Muscular Dystrophies 0.238089780414344 29 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0023467 Leukemia, Myeloid, Acute 0.23803798837316 91 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3717 JAK2 Janus kinase 2 umls:C0032461 Polycythemia 0.238020194025901 41 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3458 IFNG interferon, gamma umls:C0018133 Graft vs Host Disease 0.237961288818954 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 79728 PALB2 partner and localizer of BRCA2 umls:C1458155 Breast Neoplasms 0.237904337761446 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.237881509786376 84 Biomarker, GeneticVariation BeFree, CTD_human, GAD 26121 PRPF31 pre-mRNA processing factor 31 umls:C0035334 Retinitis Pigmentosa 0.237847064607209 27 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 3949 LDLR low density lipoprotein receptor umls:C1956346 Coronary Artery Disease 0.237765164984561 45 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0033578 Prostatic Neoplasms 0.237748347712023 11 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification CTD_human, LHGDN 7391 USF1 upstream transcription factor 1 umls:C0020474 Hyperlipidemia, Familial Combined 0.237707725389694 29 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C1458155 Breast Neoplasms 0.237620833191353 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0149931 Migraine Disorders 0.23755075826555 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3458 IFNG interferon, gamma umls:C0019196 Hepatitis C 0.237501727306952 31 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 30813 VSX1 visual system homeobox 1 umls:C0022578 Keratoconus 0.237501727306952 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 965 CD58 CD58 molecule umls:C0026769 Multiple Sclerosis 0.237472274703478 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4049 LTA lymphotoxin alpha umls:C0243026 Sepsis 0.237472274703478 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0027627 Neoplasm Metastasis 0.237413051100745 72 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 64127 NOD2 nucleotide-binding oligomerization domain containing 2 umls:C0036202 Sarcoidosis 0.237394768216126 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 361 AQP4 aquaporin 4 umls:C0027873 Neuromyelitis Optica 0.237355122968517 57 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7139 TNNT2 troponin T type 2 (cardiac) umls:C0878544 Cardiomyopathies 0.237345248720168 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C2239176 Carcinoma, Hepatocellular 0.237326158902404 47 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 5346 PLIN1 perilipin 1 umls:C0028754 Obesity 0.237325181827684 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3811 KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 umls:C0019693 HIV Infections 0.237276150869086 43 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C0027947 Neutropenia 0.237227119910488 49 Biomarker, GeneticVariation BeFree, CTD_human, GAD 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0006142 Malignant neoplasm breast 0.237216438728992 96 AlteredExpression, Biomarker, GeneticVariation BeFree, UNIPROT 2950 GSTP1 glutathione S-transferase pi 1 umls:C2239176 Carcinoma, Hepatocellular 0.237140227712146 25 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 30835 CD209 CD209 molecule umls:C0019693 HIV Infections 0.237139739174787 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7292 TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 umls:C0024141 Lupus Erythematosus, Systemic 0.237139739174787 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7422 VEGFA vascular endothelial growth factor A umls:C0004096 Asthma 0.237062721224795 32 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0005779 Blood Coagulation Disorders 0.237061744150075 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2272 FHIT fragile histidine triad umls:C0024121 Lung Neoplasms 0.236955762133969 25 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0014175 Endometriosis 0.236906242638011 21 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0001418 Adenocarcinoma 0.236877278571897 19 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0026769 Multiple Sclerosis 0.236856234604693 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5770 PTPN1 protein tyrosine phosphatase, non-receptor type 1 umls:C0011860 Diabetes Mellitus, Type 2 0.236807203646095 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD 161582 DYX1C1 dyslexia susceptibility 1 candidate 1 umls:C0476254 Dyslexia 0.236729697158743 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7015 TERT telomerase reverse transcriptase umls:C1458155 Breast Neoplasms 0.236643293497762 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0007137 Carcinoma, Squamous Cell 0.236524676150721 36 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0017638 Glioma 0.236524187613361 31 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0002395 Alzheimer Disease 0.236515290439732 10 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 84735 CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) umls:C0011881 Diabetic Nephropathies 0.236495223547247 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9173 IL1RL1 interleukin 1 receptor-like 1 umls:C0004096 Asthma 0.236445704051289 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1950 EGF epidermal growth factor umls:C1458155 Breast Neoplasms 0.236388752993782 25 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0002395 Alzheimer Disease 0.236387775919062 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0036341 Schizophrenia 0.236367709026577 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0033578 Prostatic Neoplasms 0.236359788927668 17 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0031212 Personality Disorders 0.236338256423104 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8301 PICALM phosphatidylinositol binding clathrin assembly protein umls:C0002395 Alzheimer Disease 0.236289225464505 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5744 PTHLH parathyroid hormone-like hormone umls:C0020437 Hypercalcemia 0.236250068754256 64 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4023 LPL lipoprotein lipase umls:C0007222 Cardiovascular Diseases 0.236240194505907 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2322 FLT3 fms-related tyrosine kinase 3 umls:C0023487 Leukemia, Promyelocytic, Acute 0.236220616150783 45 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.236131451407216 85 Biomarker, GeneticVariation BeFree, CTD_human, GAD 775 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit umls:C0005586 Bipolar Disorder 0.236093101630113 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0004096 Asthma 0.23605524039037 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3586 IL10 interleukin 10 umls:C0027051 Myocardial Infarction 0.23605524039037 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0001973 Alcoholism 0.236005720894412 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1991 ELANE elastase, neutrophil expressed umls:C0027947 Neutropenia 0.235977733903018 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 57502 NLGN4X neuroligin 4, X-linked umls:C0004352 Autistic Disorder 0.235957178473174 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3358 HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled umls:C0028754 Obesity 0.235956689935814 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3458 IFNG interferon, gamma umls:C0003873 Arthritis, Rheumatoid 0.235888080622091 52 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0009324 Colitis, Ulcerative 0.235751668927792 32 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7030 TFE3 transcription factor binding to IGHM enhancer 3 umls:C0007134 Carcinoma, Renal Cell 0.235740987746297 74 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0009375 Colonic Neoplasms 0.235665265266811 14 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5788 PTPRC protein tyrosine phosphatase, receptor type, C umls:C0026769 Multiple Sclerosis 0.235644709836966 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0038358 Stomach Ulcer 0.235644221299606 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0015695 Fatty Liver 0.235566226274894 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3630 INS insulin umls:C0025517 Metabolic Diseases 0.23551541130843 91 Biomarker BeFree, CTD_human 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C0033578 Prostatic Neoplasms 0.235509275217387 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 60528 ELAC2 elaC ribonuclease Z 2 umls:C0033578 Prostatic Neoplasms 0.235509275217387 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2952 GSTT1 glutathione S-transferase theta 1 umls:C0860207 Drug-Induced Liver Injury 0.235487742712823 11 Biomarker, GeneticVariation CTD_human, GAD 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C0860207 Drug-Induced Liver Injury 0.235487742712823 13 Biomarker, GeneticVariation CTD_human, GAD 1589 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 umls:C0852654 21-hydroxylase deficiency 0.235438071261709 125 Biomarker, GeneticVariation BeFree, CLINVAR 4023 LPL lipoprotein lipase umls:C0242339 Dyslipidemias 0.2354191333991 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C2931834 Congenital Hyperinsulinism 0.235399066506616 53 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0004153 Atherosclerosis 0.235390169332986 28 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5021 OXTR oxytocin receptor umls:C0004352 Autistic Disorder 0.235389680795626 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0003873 Arthritis, Rheumatoid 0.235361205266873 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 864 RUNX3 runt-related transcription factor 3 umls:C0038356 Stomach Neoplasms 0.235332729738119 20 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 7036 TFR2 transferrin receptor 2 umls:C0018995 Hemochromatosis 0.23529210741579 45 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 595 CCND1 cyclin D1 umls:C2239176 Carcinoma, Hepatocellular 0.235272040523306 60 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4629 MYH11 myosin, heavy chain 11, smooth muscle umls:C0023467 Leukemia, Myeloid, Acute 0.235231906738337 90 Biomarker, GeneticVariation BeFree, CTD_human 768 CA9 carbonic anhydrase IX umls:C0003130 Anoxia 0.235225770647293 11 AlteredExpression, Biomarker CTD_human, LHGDN 23327 NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase umls:C0020538 Hypertension 0.235155695721491 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0011860 Diabetes Mellitus, Type 2 0.235155207184131 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7422 VEGFA vascular endothelial growth factor A umls:C0011881 Diabetic Nephropathies 0.235107153300253 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1401 CRP C-reactive protein, pentraxin-related umls:C0024141 Lupus Erythematosus, Systemic 0.235106664762893 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1186 CLCN7 chloride channel, voltage-sensitive 7 umls:C0029454 Osteopetrosis 0.235058122341654 35 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2263 FGFR2 fibroblast growth factor receptor 2 umls:C1458155 Breast Neoplasms 0.235049225168025 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3596 IL13 interleukin 13 umls:C0011615 Dermatitis, Atopic 0.235008602845696 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0001418 Adenocarcinoma 0.235000194209427 25 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3553 IL1B interleukin 1, beta umls:C0038454 Stroke 0.234999217134707 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 324 APC adenomatous polyposis coli umls:C0001418 Adenocarcinoma 0.234881576862386 47 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 5277 PIGA phosphatidylinositol glycan anchor biosynthesis, class A umls:C0024790 Paroxysmal nocturnal hemoglobinuria 0.234871062121521 123 Biomarker, GeneticVariation BeFree, CLINVAR 6609 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal umls:C0028064 Niemann-Pick Diseases 0.234832545903788 54 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7291 TWIST1 twist family bHLH transcription factor 1 umls:C0027627 Neoplasm Metastasis 0.234832545903788 54 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0009404 Colorectal Neoplasms 0.23481475155653 11 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0011633 Dermatomyositis 0.234794196126685 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0003125 Anorexia Nervosa 0.234666681606015 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0025202 Melanoma 0.23465600042452 67 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0024299 Lymphoma 0.234627036358406 56 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2539 G6PD glucose-6-phosphate dehydrogenase umls:C0002878 Anemia, Hemolytic 0.234627036358406 56 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1535 CYBA cytochrome b-245, alpha polypeptide umls:C0004153 Atherosclerosis 0.234588686581303 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0030920 Peptic Ulcer 0.234588198043943 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7157 TP53 tumor protein p53 umls:C0235974 Pancreatic Carcinoma 0.234587557551428 122 Biomarker, GeneticVariation BeFree, CLINVAR 6311 ATXN2 ataxin 2 umls:C0087012 Spinocerebellar Ataxias 0.234568619688819 37 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0004153 Atherosclerosis 0.234568619688819 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1816 DRD5 dopamine receptor D5 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.234490136126747 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD 595 CCND1 cyclin D1 umls:C0014859 Esophageal Neoplasms 0.234461660597993 24 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6361 CCL17 chemokine (C-C motif) ligand 17 umls:C0011615 Dermatitis, Atopic 0.23443318506924 23 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0033578 Prostatic Neoplasms 0.234403732465766 12 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2952 GSTT1 glutathione S-transferase theta 1 umls:C0020538 Hypertension 0.234383177035922 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 613 BCR breakpoint cluster region umls:C0005699 Blast Crisis 0.234381393028056 86 Biomarker, GeneticVariation BeFree, CTD_human 675 BRCA2 breast cancer 2, early onset umls:C0015625 Fanconi Anemia 0.234372495854426 62 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0007097 Carcinoma 0.234363598680797 41 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6794 STK11 serine/threonine kinase 11 umls:C0001418 Adenocarcinoma 0.234334634614683 29 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0027627 Neoplasm Metastasis 0.234294500829715 62 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0027627 Neoplasm Metastasis 0.234294500829715 63 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 91752 ZNF804A zinc finger protein 804A umls:C0036341 Schizophrenia 0.234294012292355 54 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3593 IL12B interleukin 12B umls:C0010346 Crohn Disease 0.234255662515252 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23385 NCSTN nicastrin umls:C0002395 Alzheimer Disease 0.234226698449138 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0028326 Noonan Syndrome 0.234207120094013 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0004153 Atherosclerosis 0.234198711457744 16 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 55024 BANK1 B-cell scaffold protein with ankyrin repeats 1 umls:C0024141 Lupus Erythematosus, Systemic 0.23417766749054 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0028754 Obesity 0.234157600598055 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD 26191 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) umls:C0018213 Graves Disease 0.234128636531942 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5617 PRL prolactin umls:C0001430 Adenoma 0.234097888457962 87 Biomarker, GeneticVariation BeFree, CTD_human 1956 EGFR epidermal growth factor receptor umls:C2239176 Carcinoma, Hepatocellular 0.234060027218219 52 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7827 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) umls:C0017668 Glomerulosclerosis, Focal Segmental 0.234030574614745 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C2239176 Carcinoma, Hepatocellular 0.233973135019878 31 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0036341 Schizophrenia 0.233972646482518 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0033578 Prostatic Neoplasms 0.233944170953764 22 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 6314 ATXN7 ataxin 7 umls:C0087012 Spinocerebellar Ataxias 0.233943682416404 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C1540912 Hypereosinophilic Syndrome 0.23392410406128 36 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0003873 Arthritis, Rheumatoid 0.233903548631435 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 85480 TSLP thymic stromal lymphopoietin umls:C0004096 Asthma 0.233874584565322 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 672 BRCA1 breast cancer 1, early onset umls:C0033578 Prostatic Neoplasms 0.233865687391692 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0151779 Melanoma, Cutaneous Malignant 0.233863414846466 78 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C0033578 Prostatic Neoplasms 0.233837211862939 15 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0010346 Crohn Disease 0.233816167895734 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10320 IKZF1 IKAROS family zinc finger 1 (Ikaros) umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.23379658954061 37 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6928 HNF1B HNF1 homeobox B umls:C0033578 Prostatic Neoplasms 0.233787203829621 9 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C0042487 Venous Thrombosis 0.233787203829621 10 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0027627 Neoplasm Metastasis 0.233756455755641 69 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 246 ALOX15 arachidonate 15-lipoxygenase umls:C0004153 Atherosclerosis 0.233689141912424 22 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 7056 THBD thrombomodulin umls:C0027051 Myocardial Infarction 0.233688653375064 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0027627 Neoplasm Metastasis 0.2336695635573 45 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C1956346 Coronary Artery Disease 0.233611146887712 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 338 APOB apolipoprotein B umls:C0020473 Hyperlipidemias 0.233561627391754 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4049 LTA lymphotoxin alpha umls:C1956346 Coronary Artery Disease 0.233532663325641 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0024299 Lymphoma 0.233532663325641 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3172 HNF4A hepatocyte nuclear factor 4, alpha umls:C0342276 Mason-Type Diabetes 0.233530879317775 83 Biomarker BeFree, CTD_human 288 ANK3 ankyrin 3, node of Ranvier (ankyrin G) umls:C0005586 Bipolar Disorder 0.233463565474558 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0030567 Parkinson Disease 0.233454179763569 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3205 HOXA9 homeobox A9 umls:C0023467 Leukemia, Myeloid, Acute 0.23341502305332 50 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0001925 Albuminuria 0.233376184738857 11 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2068 ERCC2 excision repair cross-complementation group 2 umls:C0038356 Stomach Neoplasms 0.233376184738857 9 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3717 JAK2 Janus kinase 2 umls:C0023418 Leukemia 0.233356606383732 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0011860 Diabetes Mellitus, Type 2 0.233356117846372 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0005695 Urinary Bladder Neoplasms 0.233299166788865 21 AlteredExpression, Biomarker, PostTranslationalModification, Therapeutic BeFree, CTD_human, LHGDN 2623 GATA1 GATA binding protein 1 (globin transcription factor 1) umls:C0023462 Leukemia, Megakaryoblastic, Acute 0.233250790808257 55 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 627 BDNF brain-derived neurotrophic factor umls:C0003125 Anorexia Nervosa 0.233249647292907 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C1458155 Breast Neoplasms 0.233171652268195 23 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C0011053 Deafness 0.233170675193475 11 Biomarker, GeneticVariation CTD_human, GAD 79001 VKORC1 vitamin K epoxide reductase complex, subunit 1 umls:C0019080 Hemorrhage 0.233170675193475 10 Biomarker, GeneticVariation CTD_human, GAD 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C2239176 Carcinoma, Hepatocellular 0.23316048254934 57 Biomarker BeFree, CTD_human, LHGDN 2932 GSK3B glycogen synthase kinase 3 beta umls:C0002395 Alzheimer Disease 0.233093168706123 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 56244 BTNL2 butyrophilin-like 2 (MHC class II associated) umls:C0036202 Sarcoidosis 0.233073101813639 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C2239176 Carcinoma, Hepatocellular 0.233073101813639 24 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0524620 Metabolic Syndrome X 0.233072613276279 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0023891 Liver Cirrhosis, Alcoholic 0.233043649210165 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0004352 Autistic Disorder 0.233043649210165 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7043 TGFB3 transforming growth factor, beta 3 umls:C0008925 Cleft Palate 0.233043649210165 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2200 FBN1 fibrillin 1 umls:C0013581 Ectopia Lentis 0.233024070855041 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2166 FAAH fatty acid amide hydrolase umls:C0028754 Obesity 0.233023582317681 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5744 PTHLH parathyroid hormone-like hormone umls:C1458155 Breast Neoplasms 0.233015662218771 19 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 5053 PAH phenylalanine hydroxylase umls:C0751435 Hyperphenylalaninemia 0.232984592048062 102 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 3569 IL6 interleukin 6 umls:C0524620 Metabolic Syndrome X 0.232945587292969 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0033578 Prostatic Neoplasms 0.232859183631988 12 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 11200 CHEK2 checkpoint kinase 2 umls:C0033578 Prostatic Neoplasms 0.232859183631988 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0001418 Adenocarcinoma 0.232838628202143 23 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0001418 Adenocarcinoma 0.232819049847019 41 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6326 SCN2A sodium channel, voltage gated, type II alpha subunit umls:C0014544 Epilepsy 0.232740566284947 33 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5997 RGS2 regulator of G-protein signaling 2 umls:C0020538 Hypertension 0.232711113681473 18 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0024121 Lung Neoplasms 0.232703193582564 11 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, LHGDN 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C1458155 Breast Neoplasms 0.232703193582564 10 Biomarker, GeneticVariation CTD_human, LHGDN 6037 RNASE3 ribonuclease, RNase A family, 3 umls:C0004096 Asthma 0.23268263815272 19 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4314 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) umls:C1956346 Coronary Artery Disease 0.232633118656761 19 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8842 PROM1 prominin 1 umls:C0017636 Glioblastoma 0.232593473409152 55 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0004153 Atherosclerosis 0.232584087698163 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0033578 Prostatic Neoplasms 0.232575679061894 13 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0265965 Dyskeratosis Congenita 0.23255561216941 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0003873 Arthritis, Rheumatoid 0.23255512363205 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6583 SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 umls:C0021390 Inflammatory Bowel Diseases 0.23255512363205 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0948480 Coronary Restenosis 0.23255463509469 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0034065 Pulmonary Embolism 0.23255463509469 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 121278 TPH2 tryptophan hydroxylase 2 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.232505604136091 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1312 COMT catechol-O-methyltransferase umls:C1458155 Breast Neoplasms 0.232497684037182 11 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0033578 Prostatic Neoplasms 0.232477617144698 25 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0152013 Adenocarcinoma of lung 0.232445891995998 73 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C2239176 Carcinoma, Hepatocellular 0.232436994822369 47 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4255 MGMT O-6-methylguanine-DNA methyltransferase umls:C0006118 Brain Neoplasms 0.232378578152781 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2932 GSK3B glycogen synthase kinase 3 beta umls:C0036341 Schizophrenia 0.232321138557914 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C2239176 Carcinoma, Hepatocellular 0.232309968839059 55 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7490 WT1 Wilms tumor 1 umls:C0023418 Leukemia 0.232281004772945 48 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0020538 Hypertension 0.232271619061956 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4864 NPC1 Niemann-Pick disease, type C1 umls:C0220756 Niemann-Pick Disease, Type C 0.232260449343101 58 Biomarker, GeneticVariation BeFree, CTD_human, GAD 319100 TAAR6 trace amine associated receptor 6 umls:C0036341 Schizophrenia 0.232193624037244 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0018133 Graft vs Host Disease 0.232193135499884 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1950 EGF epidermal growth factor umls:C0033578 Prostatic Neoplasms 0.23216514850849 16 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 7153 TOP2A topoisomerase (DNA) II alpha 170kDa umls:C1458155 Breast Neoplasms 0.23216514850849 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 595 CCND1 cyclin D1 umls:C0038356 Stomach Neoplasms 0.23216465997113 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C0014548 Epilepsy, Generalized 0.232115629012532 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3558 IL2 interleukin 2 umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.232113356467306 79 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0024121 Lung Neoplasms 0.232086664946418 11 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 100 ADA adenosine deaminase umls:C0085110 Severe Combined Immunodeficiency 0.232085047379183 105 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0025202 Melanoma 0.231988603029222 25 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 117156 SCGB3A2 secretoglobin, family 3A, member 2 umls:C0004096 Asthma 0.231988114491862 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6790 AURKA aurora kinase A umls:C1458155 Breast Neoplasms 0.231959638963108 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0017638 Glioma 0.231939572070624 31 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C0040136 Thyroid Neoplasms 0.23191060800451 23 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0016059 Fibrosis 0.231881155401037 9 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1950 EGF epidermal growth factor umls:C2239176 Carcinoma, Hepatocellular 0.231869985682181 46 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3663 IRF5 interferon regulatory factor 5 umls:C0036421 Scleroderma, Systemic 0.231860599971192 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0162809 Kallmann Syndrome 0.231841021616068 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 128674 PROKR2 prokineticin receptor 2 umls:C0162809 Kallmann Syndrome 0.231812057549954 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0027627 Neoplasm Metastasis 0.231742959698871 52 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C1140680 Malignant neoplasm of ovary 0.231693440202913 53 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 6247 RS1 retinoschisin 1 umls:C0152439 Retinoschisis 0.231676134393015 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2068 ERCC2 excision repair cross-complementation group 2 umls:C0009404 Colorectal Neoplasms 0.231675645855655 9 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0042487 Venous Thrombosis 0.231675645855655 12 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 351 APP amyloid beta (A4) precursor protein umls:C0085220 Cerebral Amyloid Angiopathy 0.231627103434417 20 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7019 TFAM transcription factor A, mitochondrial umls:C0002395 Alzheimer Disease 0.231626126359697 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C1458155 Breast Neoplasms 0.231598139368303 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6714 SRC SRC proto-oncogene, non-receptor tyrosine kinase umls:C1458155 Breast Neoplasms 0.231598139368303 14 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C0009952 Seizures, Febrile 0.231577583938459 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0004509 Azoospermia 0.231557028508614 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD 324 APC adenomatous polyposis coli umls:C0079218 Fibromatosis, Aggressive 0.231508486087376 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0024115 Lung Diseases 0.231508486087376 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1906 EDN1 endothelin 1 umls:C0004096 Asthma 0.231499100376387 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 773 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit umls:C0004134 Ataxia 0.231479522021262 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6716 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) umls:C2937421 Prostatic Hyperplasia 0.231470136310273 9 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0021368 Inflammation 0.231470136310273 10 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4072 EPCAM epithelial cell adhesion molecule umls:C0007097 Carcinoma 0.231430491062664 44 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1378 CR1 complement component (3b/4b) receptor 1 (Knops blood group) umls:C0002395 Alzheimer Disease 0.231420616814315 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0007097 Carcinoma 0.231392629822921 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6317 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 umls:C0007137 Carcinoma, Squamous Cell 0.231343598864323 21 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0004153 Atherosclerosis 0.231323043434479 29 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0009375 Colonic Neoplasms 0.231314634798209 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0033578 Prostatic Neoplasms 0.231314634798209 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3440 IFNA2 interferon, alpha 2 umls:C0019196 Hepatitis C 0.231311873715623 75 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0011849 Diabetes Mellitus 0.23127401247588 37 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3614 IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 umls:C0035334 Retinitis Pigmentosa 0.231265115302251 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 695 BTK Bruton agammaglobulinemia tyrosine kinase umls:C0001768 Agammaglobulinemia 0.231187120277539 13 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 51473 DCDC2 doublecortin domain containing 2 umls:C0476254 Dyslexia 0.231166564847695 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 30061 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 umls:C0282193 Iron Overload 0.231146497955211 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1736 DKC1 dyskeratosis congenita 1, dyskerin umls:C0265965 Dyskeratosis Congenita 0.231118022426457 33 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C0014804 Erythromelalgia 0.231089058360343 26 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0007137 Carcinoma, Squamous Cell 0.231089058360343 28 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5327 PLAT plasminogen activator, tissue umls:C0038454 Stroke 0.231088569822983 79 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 7941 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) umls:C0010068 Coronary Disease 0.231039538864385 26 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0030297 Pancreatic Neoplasms 0.231031130228116 12 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 5617 PRL prolactin umls:C0024141 Lupus Erythematosus, Systemic 0.231010574798271 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 434 ASIP agouti signaling protein umls:C0025202 Melanoma 0.231010086260911 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 27436 EML4 echinoderm microtubule associated protein like 4 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.230979338186932 75 Biomarker BeFree, CTD_human 51151 SLC45A2 solute carrier family 45, member 2 umls:C0025202 Melanoma 0.230883060277601 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0524851 Neurodegenerative Diseases 0.230854584748848 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0860207 Drug-Induced Liver Injury 0.230853607674128 10 Biomarker, GeneticVariation CTD_human, GAD 3667 IRS1 insulin receptor substrate 1 umls:C0021655 Insulin Resistance 0.230853607674128 10 Biomarker, GeneticVariation CTD_human, GAD 116519 APOA5 apolipoprotein A-V umls:C1956346 Coronary Artery Disease 0.230834029319003 25 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0007137 Carcinoma, Squamous Cell 0.230805065252889 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0033578 Prostatic Neoplasms 0.230747625658022 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5268 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 umls:C1458155 Breast Neoplasms 0.230747625658022 11 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C0001126 Acidosis, Renal Tubular 0.230747625658022 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0038356 Stomach Neoplasms 0.230747625658022 11 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 7490 WT1 Wilms tumor 1 umls:C1458155 Breast Neoplasms 0.230747625658022 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3481 IGF2 insulin-like growth factor 2 umls:C0004903 Beckwith-Wiedemann Syndrome 0.230744864575436 65 Biomarker, GeneticVariation BeFree, CTD_human, GAD 80339 PNPLA3 patatin-like phospholipase domain containing 3 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.230744864575436 66 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2492 FSHR follicle stimulating hormone receptor umls:C0032460 Polycystic Ovary Syndrome 0.230677550732219 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 59067 IL21 interleukin 21 umls:C0007570 Celiac Disease 0.230677550732219 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C1527249 Colorectal Cancer 0.230657483839735 36 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 353143 LCE3B late cornified envelope 3B umls:C0033860 Psoriasis 0.230628519773621 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 353144 LCE3C late cornified envelope 3C umls:C0033860 Psoriasis 0.230628519773621 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 406906 MIR122 microRNA 122 umls:C2239176 Carcinoma, Hepatocellular 0.230608941418497 47 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0206686 Adrenocortical Carcinoma 0.230608941418497 49 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C1458155 Breast Neoplasms 0.23054211611264 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6696 SPP1 secreted phosphoprotein 1 umls:C1458155 Breast Neoplasms 0.230493085154042 17 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0033578 Prostatic Neoplasms 0.230464121087928 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6340 SCNN1G sodium channel, non voltage gated 1 gamma subunit umls:C0020538 Hypertension 0.230443077120724 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 351 APP amyloid beta (A4) precursor protein umls:C2936349 Plaque, Amyloid 0.230412329046744 73 Biomarker, GeneticVariation BeFree, CTD_human 6886 TAL1 T-cell acute lymphocytic leukemia 1 umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.230412329046744 73 Biomarker BeFree, CTD_human 7704 ZBTB16 zinc finger and BTB domain containing 16 umls:C0023487 Leukemia, Promyelocytic, Acute 0.230412329046744 72 Biomarker BeFree, CTD_human 659 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) umls:C0152171 Idiopathic Pulmonary Hypertension 0.230334989000023 107 Biomarker, GeneticVariation BeFree, CLINVAR 79577 CDC73 cell division cycle 73 umls:C0030521 Parathyroid Neoplasms 0.230238544650062 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2332 FMR1 fragile X mental retardation 1 umls:C3714756 Intellectual Disability 0.230238544650062 25 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0004153 Atherosclerosis 0.230237567575342 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 85363 TRIM5 tripartite motif containing 5 umls:C0019693 HIV Infections 0.230197922327733 46 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 185 AGTR1 angiotensin II receptor, type 1 umls:C0022658 Kidney Diseases 0.230188536616744 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD 55876 GSDMB gasdermin B umls:C0004096 Asthma 0.230188536616744 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2263 FGFR2 fibroblast growth factor receptor 2 umls:C1510455 Acrocephalosyndactylia 0.230180616517835 12 Biomarker, GeneticVariation CTD_human, LHGDN 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C0598608 Hyperhomocysteinemia 0.23015957255063 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0020445 Hyperlipoproteinemia Type II 0.230139505658146 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0001418 Adenocarcinoma 0.230110541592032 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0028768 Obsessive-Compulsive Disorder 0.230110541592032 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0004352 Autistic Disorder 0.230110541592032 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7068 THRB thyroid hormone receptor, beta umls:C2940786 Thyroid Hormone Resistance Syndrome 0.230090963236908 40 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C0158981 Neonatal diabetes mellitus 0.230051484429929 106 Biomarker, GeneticVariation BeFree, CLINVAR 4352 MPL MPL proto-oncogene, thrombopoietin receptor umls:C0836924 Thrombocytosis 0.23003303510468 23 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4477 MSMB microseminoprotein, beta- umls:C0033578 Prostatic Neoplasms 0.230003582501207 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 11200 CHEK2 checkpoint kinase 2 umls:C0009404 Colorectal Neoplasms 0.229975106972453 8 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4353 MPO myeloperoxidase umls:C0024121 Lung Neoplasms 0.229975106972453 9 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0001418 Adenocarcinoma 0.229926076013855 14 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5925 RB1 retinoblastoma 1 umls:C1458155 Breast Neoplasms 0.229926076013855 17 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 6101 RP1 retinitis pigmentosa 1 (autosomal dominant) umls:C0035334 Retinitis Pigmentosa 0.229888381214742 11 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 3362 HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled umls:C0036341 Schizophrenia 0.229827037021938 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1200 TPP1 tripeptidyl peptidase I umls:C0027877 Neuronal Ceroid-Lipofuscinoses 0.2297784946007 31 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C0010346 Crohn Disease 0.229749041997227 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0029458 Osteoporosis, Postmenopausal 0.229670558435155 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8604 SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 umls:C0004352 Autistic Disorder 0.229621527476557 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3606 IL18 interleukin 18 umls:C0036202 Sarcoidosis 0.229593051947803 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8600 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 umls:C0029456 Osteoporosis 0.229593051947803 16 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 3122 HLA-DRA major histocompatibility complex, class II, DR alpha umls:C0026769 Multiple Sclerosis 0.229592563410443 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 11200 CHEK2 checkpoint kinase 2 umls:C0376358 Malignant neoplasm of prostate 0.229572496517958 21 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 6121 RPE65 retinal pigment epithelium-specific protein 65kDa umls:C0456909 Blindness 0.229564087881689 9 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0023467 Leukemia, Myeloid, Acute 0.229561815336463 70 Biomarker, Therapeutic BeFree, CTD_human 4089 SMAD4 SMAD family member 4 umls:C0009404 Colorectal Neoplasms 0.229515056923091 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6794 STK11 serine/threonine kinase 11 umls:C0024121 Lung Neoplasms 0.229515056923091 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0002395 Alzheimer Disease 0.229514568385731 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0948089 Acute Coronary Syndrome 0.229514568385731 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0149925 Small Cell Lung Carcinoma 0.229503887204236 54 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2147 F2 coagulation factor II (thrombin) umls:C2239176 Carcinoma, Hepatocellular 0.229466025964493 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0005586 Bipolar Disorder 0.229465537427133 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0005695 Urinary Bladder Neoplasms 0.229436573361019 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 26580 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) umls:C0221032 Lipodystrophy, Congenital Generalized 0.229416995005895 27 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5241 PGR progesterone receptor umls:C0007097 Carcinoma 0.229416995005895 30 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2898 GRIK2 glutamate receptor, ionotropic, kainate 2 umls:C0004352 Autistic Disorder 0.229387542402421 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5588 PRKCQ protein kinase C, theta umls:C0003873 Arthritis, Rheumatoid 0.229387053865061 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0010346 Crohn Disease 0.229367475509937 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0009404 Colorectal Neoplasms 0.229359066873667 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C1458155 Breast Neoplasms 0.229359066873667 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2952 GSTT1 glutathione S-transferase theta 1 umls:C0033578 Prostatic Neoplasms 0.229358578336307 12 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0021368 Inflammation 0.229358578336307 9 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 8915 BCL10 B-cell CLL/lymphoma 10 umls:C0242647 Lymphoma, B-Cell, Marginal Zone 0.229339654959173 61 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 8647 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 umls:C0008372 Cholestasis, Intrahepatic 0.229309547377709 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3077 HFE hemochromatosis umls:C0030567 Parkinson Disease 0.229309058840349 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0042109 Urticaria 0.229309058840349 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1161 ERCC8 excision repair cross-complementation group 8 umls:C0009207 Cockayne Syndrome 0.229289480485225 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2932 GSK3B glycogen synthase kinase 3 beta umls:C0005586 Bipolar Disorder 0.229260027881751 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 64127 NOD2 nucleotide-binding oligomerization domain containing 2 umls:C0003872 Arthritis, Psoriatic 0.229260027881751 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3456 IFNB1 interferon, beta 1, fibroblast umls:C0025202 Melanoma 0.229240449526627 37 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0040136 Thyroid Neoplasms 0.229231063815637 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 613 BCR breakpoint cluster region umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.229220382634142 52 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 779 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit umls:C0238358 Hypokalemic Periodic Paralysis 0.229191418568028 41 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0025149 Medulloblastoma 0.229191418568028 44 Biomarker BeFree, CTD_human, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0013080 Down Syndrome 0.229191418568028 43 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7298 TYMS thymidylate synthetase umls:C0009375 Colonic Neoplasms 0.229182032857039 19 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0009375 Colonic Neoplasms 0.229153557328285 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 185 AGTR1 angiotensin II receptor, type 1 umls:C0085580 Hypertension, Essential 0.22914189907207 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5428 POLG polymerase (DNA directed), gamma umls:C0242422 Parkinsonian Disorders 0.229104526369687 17 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4729 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa umls:C0005586 Bipolar Disorder 0.229104037832327 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C1458155 Breast Neoplasms 0.229075562303574 13 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 3105 HLA-A major histocompatibility complex, class I, A umls:C0038325 Stevens-Johnson Syndrome 0.229054518336369 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0011854 Diabetes Mellitus, Type 1 0.229054518336369 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7157 TP53 tumor protein p53 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.22901487308876 53 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4647 MYO7A myosin VIIA umls:C0271097 Usher Syndromes 0.229005975915131 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7035 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) umls:C0042487 Venous Thrombosis 0.228947559245544 8 GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0027686 Neovascularization, Pathologic 0.228947559245544 10 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7066 THPO thrombopoietin umls:C0836924 Thrombocytosis 0.228878949931821 33 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 627 BDNF brain-derived neurotrophic factor umls:C0028768 Obsessive-Compulsive Disorder 0.228849497328347 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3565 IL4 interleukin 4 umls:C0024141 Lupus Erythematosus, Systemic 0.228849497328347 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4241 MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 umls:C0025202 Melanoma 0.228821021799594 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0011884 Diabetic Retinopathy 0.228820533262234 10 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5645 PRSS2 protease, serine, 2 (trypsin 2) umls:C0149521 Pancreatitis, Chronic 0.228820533262234 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 57142 RTN4 reticulon 4 umls:C0036341 Schizophrenia 0.228820533262234 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0003873 Arthritis, Rheumatoid 0.228800466369749 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0033578 Prostatic Neoplasms 0.22879205773348 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0014859 Esophageal Neoplasms 0.228771502303636 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0024305 Lymphoma, Non-Hodgkin 0.228771013766276 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0030567 Parkinson Disease 0.228742049700162 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3785 KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 umls:C0014544 Epilepsy 0.228702404452553 40 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 114781 BTBD9 BTB (POZ) domain containing 9 umls:C0035258 Restless Legs Syndrome 0.228693018741564 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2645 GCK glucokinase (hexokinase 4) umls:C0085207 Diabetes, Gestational 0.228684776545925 26 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 8929 PHOX2B paired-like homeobox 2b umls:C0027819 Neuroblastoma 0.228673440386439 31 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5428 POLG polymerase (DNA directed), gamma umls:C0007795 Diffuse Cerebral Sclerosis of Schilder 0.228644476320326 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 240 ALOX5 arachidonate 5-lipoxygenase umls:C0004153 Atherosclerosis 0.228643987782966 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4843 NOS2 nitric oxide synthase 2, inducible umls:C0024530 Malaria 0.228643987782966 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 846 CASR calcium-sensing receptor umls:C0020502 Hyperparathyroidism 0.228615512254212 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0004153 Atherosclerosis 0.228565992758254 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0002395 Alzheimer Disease 0.22853702869214 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1813 DRD2 dopamine receptor D2 umls:C0236969 Substance-Related Disorders 0.22853654015478 9 Biomarker, GeneticVariation CTD_human, GAD 3630 INS insulin umls:C0021655 Insulin Resistance 0.22853654015478 9 Biomarker, GeneticVariation CTD_human, GAD 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C0003811 Arrhythmias, Cardiac 0.22853654015478 11 Biomarker, GeneticVariation CTD_human, GAD 3952 LEP leptin umls:C0043094 Weight Gain 0.22853654015478 10 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C0016658 Fractures, Bone 0.22853654015478 9 Biomarker, GeneticVariation CTD_human, GAD 56606 SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 umls:C0018099 Gout 0.22853654015478 9 Biomarker, GeneticVariation CTD_human, GAD 1285 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) umls:C0027706 Nephritis, Hereditary 0.228508553163386 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1950 EGF epidermal growth factor umls:C0017636 Glioblastoma 0.228476828014687 58 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 3481 IGF2 insulin-like growth factor 2 umls:C0027708 Wilms Tumor 0.228427797056089 66 AlteredExpression, Biomarker BeFree, CTD_human 1804 DPP6 dipeptidyl-peptidase 6 umls:C0002736 Amyotrophic Lateral Sclerosis 0.22840951417147 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0010073 Coronary Vasospasm 0.228311452254274 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0033578 Prostatic Neoplasms 0.228303043618004 12 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0009404 Colorectal Neoplasms 0.228303043618004 11 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0040136 Thyroid Neoplasms 0.228254012659406 17 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 186 AGTR2 angiotensin II receptor, type 2 umls:C0149721 Hypertrophy, Left Ventricular 0.228253524122046 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5362 PLXNA2 plexin A2 umls:C0036341 Schizophrenia 0.228253524122046 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0024121 Lung Neoplasms 0.228225048593293 12 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic BeFree, CTD_human, LHGDN 4311 MME membrane metallo-endopeptidase umls:C0033578 Prostatic Neoplasms 0.228225048593293 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 945 CD33 CD33 molecule umls:C0023467 Leukemia, Myeloid, Acute 0.228164359378479 50 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0026769 Multiple Sclerosis 0.22815497366749 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2099 ESR1 estrogen receptor 1 umls:C0021364 Infertility, Male 0.228126009601376 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9966 TNFSF15 tumor necrosis factor (ligand) superfamily, member 15 umls:C0009324 Colitis, Ulcerative 0.228076978642778 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C0398625 Protein C Deficiency 0.228048503114024 18 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 1950 EGF epidermal growth factor umls:C0001418 Adenocarcinoma 0.22802794768418 27 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 umls:C0221032 Lipodystrophy, Congenital Generalized 0.227999472155426 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2668 GDNF glial cell derived neurotrophic factor umls:C0019569 Hirschsprung Disease 0.227949952659468 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2798 GNRHR gonadotropin-releasing hormone receptor umls:C0020619 Hypogonadism 0.227892024527241 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0027627 Neoplasm Metastasis 0.227880854808386 49 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7051 TGM1 transglutaminase 1 umls:C0079154 Ichthyosis, Lamellar 0.227880854808386 46 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 326 AIRE autoimmune regulator umls:C3494489 Autoimmune polyendocrinopathy syndrome, type 1 0.227860787915901 63 Biomarker, GeneticVariation BeFree, CTD_human 4353 MPO myeloperoxidase umls:C0002395 Alzheimer Disease 0.227842505031283 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3586 IL10 interleukin 10 umls:C0011615 Dermatitis, Atopic 0.227822438138798 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4908 NTF3 neurotrophin 3 umls:C0036341 Schizophrenia 0.227793474072685 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0149931 Migraine Disorders 0.227793474072685 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4170 MCL1 myeloid cell leukemia 1 umls:C0026764 Multiple Myeloma 0.22777389571756 39 Biomarker BeFree, CTD_human, LHGDN 7173 TPO thyroid peroxidase umls:C0010308 Congenital Hypothyroidism 0.22777389571756 39 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.227764510006571 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7555 CNBP CCHC-type zinc finger, nucleic acid binding protein umls:C0027126 Myotonic Dystrophy 0.227675345263004 47 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9429 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) umls:C1458155 Breast Neoplasms 0.227658039453105 8 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 845 CASQ2 calsequestrin 2 (cardiac muscle) umls:C0042514 Tachycardia, Ventricular 0.227658039453105 8 Biomarker, GeneticVariation CTD_human, LHGDN 3952 LEP leptin umls:C0021368 Inflammation 0.227658039453105 8 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN 4481 MSR1 macrophage scavenger receptor 1 umls:C0033578 Prostatic Neoplasms 0.227658039453105 8 Biomarker, GeneticVariation CTD_human, LHGDN 348 APOE apolipoprotein E umls:C0007273 Carotid Artery Diseases 0.227636995485901 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1557 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 umls:C0007222 Cardiovascular Diseases 0.227636995485901 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0024141 Lupus Erythematosus, Systemic 0.227636995485901 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4513 COX2 cytochrome c oxidase subunit II umls:C1527249 Colorectal Cancer 0.227598005216282 83 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 7124 TNF tumor necrosis factor umls:C0027627 Neoplasm Metastasis 0.227597350238292 48 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4221 MEN1 multiple endocrine neoplasia I umls:C0206754 Neuroendocrine Tumors 0.227568386172178 38 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 153 ADRB1 adrenoceptor beta 1 umls:C0007222 Cardiovascular Diseases 0.227559000461189 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0002395 Alzheimer Disease 0.227559000461189 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0024305 Lymphoma, Non-Hodgkin 0.227559000461189 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0027051 Myocardial Infarction 0.227559000461189 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 326 AIRE autoimmune regulator umls:C0085409 Polyendocrinopathies, Autoimmune 0.227509969502591 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 81608 FIP1L1 factor interacting with PAPOLA and CPSF1 umls:C1540912 Hypereosinophilic Syndrome 0.227490391147466 38 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3676 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.227481493973837 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0002395 Alzheimer Disease 0.227481005436477 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0021368 Inflammation 0.227452529907723 8 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 3817 KLK2 kallikrein-related peptidase 2 umls:C0033578 Prostatic Neoplasms 0.227452529907723 8 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0001418 Adenocarcinoma 0.227452529907723 8 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C1458155 Breast Neoplasms 0.227452529907723 9 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C1458155 Breast Neoplasms 0.227452529907723 8 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 943 TNFRSF8 tumor necrosis factor receptor superfamily, member 8 umls:C0019829 Hodgkin Disease 0.227432463015239 24 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0856761 Budd-Chiari Syndrome 0.227431974477879 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0001418 Adenocarcinoma 0.227431974477879 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3417 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble umls:C0028945 Oligodendroglioma 0.227411907585395 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 274 BIN1 bridging integrator 1 umls:C0002395 Alzheimer Disease 0.227353490915807 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3043 HBB hemoglobin, beta umls:C0024535 Malaria, Falciparum 0.227353490915807 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0009404 Colorectal Neoplasms 0.227325015387053 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 54413 NLGN3 neuroligin 3 umls:C0004352 Autistic Disorder 0.227304948494569 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0001418 Adenocarcinoma 0.227304948494569 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6657 SOX2 SRY (sex determining region Y)-box 2 umls:C0003119 Anophthalmos 0.227304948494569 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6775 STAT4 signal transducer and activator of transcription 4 umls:C0036421 Scleroderma, Systemic 0.227304459957209 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6649 SOD3 superoxide dismutase 3, extracellular umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.227275495891095 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0024121 Lung Neoplasms 0.227247020362342 9 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 8243 SMC1A structural maintenance of chromosomes 1A umls:C0270972 De Lange Syndrome 0.227226953469857 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0242422 Parkinsonian Disorders 0.227206886577373 37 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1188 CLCNKB chloride channel, voltage-sensitive Kb umls:C0004775 Bartter Syndrome 0.227148958445145 20 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0024141 Lupus Erythematosus, Systemic 0.227148469907785 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0019693 HIV Infections 0.227128403015301 30 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0033578 Prostatic Neoplasms 0.227119994379032 14 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6934 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) umls:C0009404 Colorectal Neoplasms 0.227119994379032 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 10019 SH2B3 SH2B adaptor protein 3 umls:C0011854 Diabetes Mellitus, Type 1 0.227069986345714 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 595 CCND1 cyclin D1 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.227059305164218 53 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0011849 Diabetes Mellitus 0.227050407990589 29 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C0040053 Thrombosis 0.22704151081696 11 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2324 FLT4 fms-related tyrosine kinase 4 umls:C0024236 Lymphedema 0.227021443924475 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 60675 PROK2 prokineticin 2 umls:C0162809 Kallmann Syndrome 0.227021443924475 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0003873 Arthritis, Rheumatoid 0.227021443924475 19 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C2239176 Carcinoma, Hepatocellular 0.227001377031991 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0023890 Liver Cirrhosis 0.226992479858362 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C2239176 Carcinoma, Hepatocellular 0.226972412965877 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5582 PRKCG protein kinase C, gamma umls:C0087012 Spinocerebellar Ataxias 0.226972412965877 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5077 PAX3 paired box 3 umls:C3266898 Waardenburg Syndrome 0.226952346073393 44 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4507 MTAP methylthioadenosine phosphorylase umls:C0025202 Melanoma 0.226942960362404 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1785 DNM2 dynamin 2 umls:C0752282 Myopathies, Structural, Congenital 0.226923382007279 34 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5310 PKD1 polycystic kidney disease 1 (autosomal dominant) umls:C0010709 Cysts 0.226923382007279 37 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 50943 FOXP3 forkhead box P3 umls:C0011854 Diabetes Mellitus, Type 1 0.226922893469919 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8626 TP63 tumor protein p63 umls:C0001418 Adenocarcinoma 0.22691448483365 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 54806 AHI1 Abelson helper integration site 1 umls:C0036341 Schizophrenia 0.226864965337692 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0033578 Prostatic Neoplasms 0.226836489808938 12 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0007117 Carcinoma, Basal Cell 0.226836001271578 9 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1401 CRP C-reactive protein, pentraxin-related umls:C0524620 Metabolic Syndrome X 0.226795867486609 36 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1071 CETP cholesteryl ester transfer protein, plasma umls:C0020538 Hypertension 0.22678648177562 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0027819 Neuroblastoma 0.226746836528011 43 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1950 EGF epidermal growth factor umls:C0027627 Neoplasm Metastasis 0.226726769635527 60 Biomarker BeFree, CTD_human 55294 FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.226688419858424 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3481 IGF2 insulin-like growth factor 2 umls:C0028754 Obesity 0.226688419858424 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD 51750 RTEL1 regulator of telomere elongation helicase 1 umls:C0017638 Glioma 0.226688419858424 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4534 MTM1 myotubularin 1 umls:C0752282 Myopathies, Structural, Congenital 0.226639877437185 36 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C0007117 Carcinoma, Basal Cell 0.226630491726196 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0279628 Adenocarcinoma Of Esophagus 0.226590357941227 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3240 HP haptoglobin umls:C0007222 Cardiovascular Diseases 0.226561393875114 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3169 FOXA1 forkhead box A1 umls:C1458155 Breast Neoplasms 0.226552985238844 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3084 NRG1 neuregulin 1 umls:C1458155 Breast Neoplasms 0.226552985238844 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3952 LEP leptin umls:C0524620 Metabolic Syndrome X 0.226541326982629 44 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0024530 Malaria 0.226532429809 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0024305 Lymphoma, Non-Hodgkin 0.226502977205526 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4128 MAOA monoamine oxidase A umls:C0030567 Parkinson Disease 0.226502977205526 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7515 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.226502977205526 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3630 INS insulin umls:C0011881 Diabetic Nephropathies 0.226492296024031 53 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 367 AR androgen receptor umls:C2239176 Carcinoma, Hepatocellular 0.226483398850402 25 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 7253 TSHR thyroid stimulating hormone receptor umls:C0010308 Congenital Hypothyroidism 0.226483398850402 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.226453946246928 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0028754 Obesity 0.226453946246928 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4763 NF1 neurofibromin 1 umls:C0206727 Nerve Sheath Neoplasms 0.226434367891804 37 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 65078 RTN4R reticulon 4 receptor umls:C0036341 Schizophrenia 0.226425470718174 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 219771 CCNY cyclin Y umls:C0010346 Crohn Disease 0.226424982180814 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0011057 Hearing Loss, Sudden 0.226424982180814 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6496 SIX3 SIX homeobox 3 umls:C0079541 Holoprosencephaly 0.22640540382569 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0023343 Leprosy 0.22640491528833 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1956 EGFR epidermal growth factor receptor umls:C0029463 Osteosarcoma 0.226376439759576 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5428 POLG polymerase (DNA directed), gamma umls:C0021364 Infertility, Male 0.226375951222216 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0032927 Precancerous Conditions 0.226355884329732 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0001418 Adenocarcinoma 0.226327408800978 23 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.226326920263618 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2776 GNAQ guanine nucleotide binding protein (G protein), q polypeptide umls:C0025202 Melanoma 0.226326920263618 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 55145 THAP1 THAP domain containing, apoptosis associated protein 1 umls:C0013421 Dystonia 0.226306853371134 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0004352 Autistic Disorder 0.226297956197504 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0023890 Liver Cirrhosis 0.22627788930502 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0024121 Lung Neoplasms 0.226269480668751 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0024121 Lung Neoplasms 0.226269480668751 12 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 7052 TGM2 transglutaminase 2 umls:C1458155 Breast Neoplasms 0.226269480668751 10 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C0025202 Melanoma 0.226248925238906 18 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 51561 IL23A interleukin 23, alpha subunit p19 umls:C0033860 Psoriasis 0.226228858346422 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0025202 Melanoma 0.226219961172793 11 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 126 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide umls:C0026640 Mouth Neoplasms 0.226219472635433 7 Biomarker, GeneticVariation CTD_human, GAD 3953 LEPR leptin receptor umls:C0021655 Insulin Resistance 0.226219472635433 8 Biomarker, GeneticVariation CTD_human, GAD 4153 MBL2 mannose-binding lectin (protein C) 2, soluble umls:C0151526 Premature Birth 0.226219472635433 7 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0007873 Uterine Cervical Neoplasms 0.226219472635433 7 Biomarker, GeneticVariation CTD_human, GAD 56729 RETN resistin umls:C0021655 Insulin Resistance 0.226219472635433 8 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0020517 Hypersensitivity 0.226219472635433 9 Biomarker, GeneticVariation CTD_human, GAD 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0023418 Leukemia 0.226199894280308 26 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0151744 Myocardial Ischemia 0.226170441676834 13 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0017638 Glioma 0.226130796429225 50 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 213 ALB albumin umls:C0022658 Kidney Diseases 0.226101832363112 49 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 940 CD28 CD28 molecule umls:C0019693 HIV Infections 0.226101832363112 42 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7038 TG thyroglobulin umls:C0018021 Goiter 0.226101832363112 43 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0011860 Diabetes Mellitus, Type 2 0.226092446652123 11 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 1030 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) umls:C0017638 Glioma 0.226072379759638 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 595 CCND1 cyclin D1 umls:C0024121 Lung Neoplasms 0.226063971123369 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3586 IL10 interleukin 10 umls:C0024121 Lung Neoplasms 0.226063971123369 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1421 CRYGD crystallin, gamma D umls:C0086543 Cataract 0.226043904230884 25 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0017636 Glioblastoma 0.226043904230884 24 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5429 POLH polymerase (DNA directed), eta umls:C0043346 Xeroderma Pigmentosum 0.226043904230884 26 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 940 CD28 CD28 molecule umls:C0003873 Arthritis, Rheumatoid 0.225994384734926 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5058 PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 umls:C1458155 Breast Neoplasms 0.225985976098657 10 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 1890 TYMP thymidine phosphorylase umls:C0009404 Colorectal Neoplasms 0.225985976098657 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0041327 Tuberculosis, Pulmonary 0.225965420668813 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0006625 Cachexia 0.225887425644101 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0004096 Asthma 0.225886937106741 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3605 IL17A interleukin 17A umls:C0004364 Autoimmune Diseases 0.225876255925246 57 Biomarker BeFree, CTD_human 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0085541 Epilepsy, Frontal Lobe 0.225858461577987 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3559 IL2RA interleukin 2 receptor, alpha umls:C0003873 Arthritis, Rheumatoid 0.225837906148143 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1017 CDK2 cyclin-dependent kinase 2 umls:C0025202 Melanoma 0.225818327793018 40 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3952 LEP leptin umls:C0032460 Polycystic Ovary Syndrome 0.225809430619389 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3105 HLA-A major histocompatibility complex, class I, A umls:C0038013 Spondylitis, Ankylosing 0.225808942082029 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0242383 Macular Degeneration 0.225808942082029 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 83990 BRIP1 BRCA1 interacting protein C-terminal helicase 1 umls:C0015625 Fanconi Anemia 0.225789363726904 30 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3914 LAMB3 laminin, beta 3 umls:C0079301 Epidermolysis Bullosa, Junctional 0.225789363726904 31 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0919267 Ovarian Neoplasms 0.225759911123431 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C1458155 Breast Neoplasms 0.225731435594677 17 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2778 GNAS GNAS complex locus umls:C0020538 Hypertension 0.225730947057317 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0024530 Malaria 0.225710880164833 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0004352 Autistic Disorder 0.225710880164833 28 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C1458155 Breast Neoplasms 0.225702471528563 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 9518 GDF15 growth differentiation factor 15 umls:C0033578 Prostatic Neoplasms 0.225702471528563 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0020542 Hypertension, Pulmonary 0.225681916098719 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3439 IFNA1 interferon, alpha 1 umls:C0025202 Melanoma 0.22564178231375 55 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.225592751355152 58 Biomarker BeFree, CTD_human 3554 IL1R1 interleukin 1 receptor, type I umls:C0014175 Endometriosis 0.225574957007893 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0006118 Brain Neoplasms 0.225554401578049 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0033975 Psychotic Disorders 0.225554401578049 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2147 F2 coagulation factor II (thrombin) umls:C0037198 Sinus Thrombosis, Intracranial 0.225525437511935 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 54899 PXK PX domain containing serine/threonine kinase umls:C0024141 Lupus Erythematosus, Systemic 0.225525437511935 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0038454 Stroke 0.225525437511935 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8764 TNFRSF14 tumor necrosis factor receptor superfamily, member 14 umls:C0003873 Arthritis, Rheumatoid 0.225525437511935 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0033578 Prostatic Neoplasms 0.225496961983181 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0007222 Cardiovascular Diseases 0.225476406553337 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0206708 Cervical Intraepithelial Neoplasia 0.225476406553337 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10855 HPSE heparanase umls:C0025202 Melanoma 0.225447931024583 15 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4204 MECP2 methyl CpG binding protein 2 umls:C3714756 Intellectual Disability 0.225447931024583 17 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1890 TYMP thymidine phosphorylase umls:C0007097 Carcinoma 0.225447931024583 15 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0009404 Colorectal Neoplasms 0.22541896695847 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 898 CCNE1 cyclin E1 umls:C1458155 Breast Neoplasms 0.22541896695847 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0033578 Prostatic Neoplasms 0.22541896695847 9 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0007097 Carcinoma 0.22541896695847 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7424 VEGFC vascular endothelial growth factor C umls:C1458155 Breast Neoplasms 0.22541896695847 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C2239176 Carcinoma, Hepatocellular 0.225398411528625 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2952 GSTT1 glutathione S-transferase theta 1 umls:C0007097 Carcinoma 0.225369447462512 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5972 REN renin umls:C0022658 Kidney Diseases 0.225358277743656 50 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0033860 Psoriasis 0.225349380570027 23 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0023895 Liver Diseases 0.225349380570027 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1401 CRP C-reactive protein, pentraxin-related umls:C0948089 Acute Coronary Syndrome 0.225320416503913 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8929 PHOX2B paired-like homeobox 2b umls:C0019569 Hirschsprung Disease 0.225320416503913 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4211 MEIS1 Meis homeobox 1 umls:C0035258 Restless Legs Syndrome 0.225319927966553 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4485 MST1 macrophage stimulating 1 (hepatocyte growth factor-like) umls:C0010346 Crohn Disease 0.225319927966553 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0024299 Lymphoma 0.225319927966553 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3953 LEPR leptin receptor umls:C1458155 Breast Neoplasms 0.2252914524378 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C1512419 Hereditary Melanoma 0.225280937696935 82 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 4261 CIITA class II, major histocompatibility complex, transactivator umls:C0026769 Multiple Sclerosis 0.225270897007955 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1436 CSF1R colony stimulating factor 1 receptor umls:C0023467 Leukemia, Myeloid, Acute 0.225251318652831 39 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 324 APC adenomatous polyposis coli umls:C0699790 Colon Carcinoma 0.225231906738337 89 Biomarker, GeneticVariation BeFree, CLINVAR 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0027627 Neoplasm Metastasis 0.225222354586717 31 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 7507 XPA xeroderma pigmentosum, complementation group A umls:C0043346 Xeroderma Pigmentosum 0.225222354586717 30 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0010200 Cough 0.225221866049357 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7298 TYMS thymidylate synthetase umls:C1458155 Breast Neoplasms 0.225213457413088 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7050 TGIF1 TGFB-induced factor homeobox 1 umls:C0079541 Holoprosencephaly 0.225193390520603 19 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0151744 Myocardial Ischemia 0.225192901983243 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0024305 Lymphoma, Non-Hodgkin 0.225192901983243 18 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1812 DRD1 dopamine receptor D1 umls:C0005586 Bipolar Disorder 0.225192901983243 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3717 JAK2 Janus kinase 2 umls:C0856761 Budd-Chiari Syndrome 0.225192901983243 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0007137 Carcinoma, Squamous Cell 0.22516442645449 15 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0040136 Thyroid Neoplasms 0.22516393791713 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0036202 Sarcoidosis 0.22516393791713 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 114609 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein umls:C0041296 Tuberculosis 0.22516393791713 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10599 SLCO1B1 solute carrier organic anion transporter family, member 1B1 umls:C0026848 Muscular Diseases 0.225143871024645 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0033578 Prostatic Neoplasms 0.225135462388376 7 AlteredExpression, Biomarker CTD_human, LHGDN 5328 PLAU plasminogen activator, urokinase umls:C0033578 Prostatic Neoplasms 0.225135462388376 8 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification CTD_human, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0024121 Lung Neoplasms 0.225085942892418 11 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic BeFree, CTD_human, GAD, LHGDN 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0010346 Crohn Disease 0.22503642339646 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0019829 Hodgkin Disease 0.22503642339646 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 121278 TPH2 tryptophan hydroxylase 2 umls:C0004352 Autistic Disorder 0.22503642339646 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 596 BCL2 B-cell CLL/lymphoma 2 umls:C0026764 Multiple Myeloma 0.225025742214964 54 Biomarker BeFree, CTD_human 6121 RPE65 retinal pigment epithelium-specific protein 65kDa umls:C0339527 Leber Congenital Amaurosis 0.225025742214964 54 Biomarker BeFree, CTD_human 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0024121 Lung Neoplasms 0.225007947867706 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0022658 Kidney Diseases 0.224987392437862 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5081 PAX7 paired box 7 umls:C0206655 Rhabdomyosarcoma, Alveolar 0.224967814082737 36 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4018 LPA lipoprotein, Lp(a) umls:C0038454 Stroke 0.224958916909108 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0001418 Adenocarcinoma 0.224958428371748 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 59067 IL21 interleukin 21 umls:C0024141 Lupus Erythematosus, Systemic 0.224938361479263 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1401 CRP C-reactive protein, pentraxin-related umls:C3714514 Infection 0.224929952842994 7 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 10481 HOXB13 homeobox B13 umls:C1458155 Breast Neoplasms 0.224929952842994 7 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3605 IL17A interleukin 17A umls:C0021368 Inflammation 0.224929952842994 7 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 43 ACHE acetylcholinesterase (Yt blood group) umls:C0002395 Alzheimer Disease 0.22490939741315 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 345 APOC3 apolipoprotein C-III umls:C0007222 Cardiovascular Diseases 0.22490939741315 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2218 FKTN fukutin umls:C0026850 Muscular Dystrophies 0.22490939741315 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0001418 Adenocarcinoma 0.224880921884396 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3481 IGF2 insulin-like growth factor 2 umls:C0009404 Colorectal Neoplasms 0.224880921884396 13 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0038356 Stomach Neoplasms 0.224802438322324 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C0085541 Epilepsy, Frontal Lobe 0.224753407363726 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0026769 Multiple Sclerosis 0.224753407363726 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 861 RUNX1 runt-related transcription factor 1 umls:C0003873 Arthritis, Rheumatoid 0.224753407363726 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1021 CDK6 cyclin-dependent kinase 6 umls:C0003873 Arthritis, Rheumatoid 0.224752918826366 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1071 CETP cholesteryl ester transfer protein, plasma umls:C0020473 Hyperlipidemias 0.224752918826366 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2643 GCH1 GTP cyclohydrolase 1 umls:C0030193 Pain 0.224752918826366 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0030297 Pancreatic Neoplasms 0.224724443297612 6 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2152 F3 coagulation factor III (thromboplastin, tissue factor) umls:C0040053 Thrombosis 0.224724443297612 7 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0033578 Prostatic Neoplasms 0.224724443297612 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0027651 Neoplasms 0.224724443297612 12 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification, Therapeutic CTD_human, GAD, LHGDN 7450 VWF von Willebrand factor umls:C0040053 Thrombosis 0.224724443297612 8 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0027947 Neutropenia 0.224713273578757 56 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 2688 GH1 growth hormone 1 umls:C0032019 Pituitary Neoplasms 0.224713273578757 45 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0004096 Asthma 0.224674923801654 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.224674923801654 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.224664897598149 87 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR 1956 EGFR epidermal growth factor receptor umls:C0149925 Small Cell Lung Carcinoma 0.22465534544653 27 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3952 LEP leptin umls:C0020459 Hyperinsulinism 0.22465534544653 29 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4221 MEN1 multiple endocrine neoplasia I umls:C0030297 Pancreatic Neoplasms 0.22465485690917 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1071 CETP cholesteryl ester transfer protein, plasma umls:C0242339 Dyslipidemias 0.224625892843056 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 159296 NKX2-3 NK2 homeobox 3 umls:C0009324 Colitis, Ulcerative 0.224625892843056 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C0013080 Down Syndrome 0.224625892843056 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5896 RAG1 recombination activating gene 1 umls:C0085110 Severe Combined Immunodeficiency 0.224618139184777 30 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0029456 Osteoporosis 0.224605825950572 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD 84894 LINGO1 leucine rich repeat and Ig domain containing 1 umls:C0270736 Essential Tremor 0.224605825950572 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10161 LPAR6 lysophosphatidic acid receptor 6 umls:C0020678 Hypotrichosis 0.224597417314302 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0038356 Stomach Neoplasms 0.224596928776942 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0034885 Rectal Neoplasms 0.224596928776942 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0009324 Colitis, Ulcerative 0.224576861884458 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3565 IL4 interleukin 4 umls:C0033860 Psoriasis 0.224547897818344 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0004364 Autoimmune Diseases 0.22452783092586 29 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1138 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) umls:C0024121 Lung Neoplasms 0.224518933752231 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2157 F8 coagulation factor VIII, procoagulant component umls:C0042487 Venous Thrombosis 0.224518933752231 7 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4942 OAT ornithine aminotransferase umls:C0018425 Gyrate Atrophy 0.224507764033375 43 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6792 CDKL5 cyclin-dependent kinase-like 5 umls:C0036572 Seizures 0.224478799967262 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 60468 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 umls:C0011854 Diabetes Mellitus, Type 1 0.224469414256272 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C0001973 Alcoholism 0.224469414256272 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 627 BDNF brain-derived neurotrophic factor umls:C0004352 Autistic Disorder 0.224420383297674 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1030 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) umls:C1956346 Coronary Artery Disease 0.224420383297674 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1535 CYBA cytochrome b-245, alpha polypeptide umls:C0011860 Diabetes Mellitus, Type 2 0.224420383297674 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3586 IL10 interleukin 10 umls:C0004943 Behcet Syndrome 0.224420383297674 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 81037 CLPTM1L CLPTM1-like umls:C0024121 Lung Neoplasms 0.224391419231561 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8000 PSCA prostate stem cell antigen umls:C0038356 Stomach Neoplasms 0.224391419231561 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0024809 Marijuana Abuse 0.224371352339076 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0022603 Keratosis, Seborrheic 0.224342876810322 15 Biomarker, GeneticVariation BeFree, LHGDN, UNIPROT 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0001430 Adenoma 0.224342876810322 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0007134 Carcinoma, Renal Cell 0.224342876810322 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3593 IL12B interleukin 12B umls:C0003872 Arthritis, Psoriatic 0.224342388272962 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2194 FASN fatty acid synthase umls:C1458155 Breast Neoplasms 0.224313912744209 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1136 CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) umls:C0024121 Lung Neoplasms 0.224313424206849 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0032914 Pre-Eclampsia 0.224313424206849 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2956 MSH6 mutS homolog 6 umls:C0014170 Endometrial Neoplasms 0.224313424206849 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0038356 Stomach Neoplasms 0.224313424206849 7 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0043251 Wounds and Injuries 0.224313424206849 7 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 65125 WNK1 WNK lysine deficient protein kinase 1 umls:C0020538 Hypertension 0.224293357314364 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 338 APOB apolipoprotein B umls:C0242339 Dyslipidemias 0.224215362289652 20 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0032580 Adenomatous Polyposis Coli 0.224195295397168 35 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6854 SYN2 synapsin II umls:C0036341 Schizophrenia 0.224186398223539 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1813 DRD2 dopamine receptor D2 umls:C0038587 Substance Withdrawal Syndrome 0.224185909686179 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2067 ERCC1 excision repair cross-complementation group 1 umls:C0038356 Stomach Neoplasms 0.224185909686179 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3557 IL1RN interleukin 1 receptor antagonist umls:C0007786 Brain Ischemia 0.224185909686179 8 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3798 KIF5A kinesin family member 5A umls:C0003873 Arthritis, Rheumatoid 0.224185909686179 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0152013 Adenocarcinoma of lung 0.224175228504683 56 Biomarker BeFree, CTD_human 1649 DDIT3 DNA-damage-inducible transcript 3 umls:C0206634 Liposarcoma, Myxoid 0.224175228504683 50 Biomarker, GeneticVariation BeFree, CTD_human 85480 TSLP thymic stromal lymphopoietin umls:C0011615 Dermatitis, Atopic 0.224166331331054 28 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4128 MAOA monoamine oxidase A umls:C0004352 Autistic Disorder 0.224136878727581 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4988 OPRM1 opioid receptor, mu 1 umls:C0019337 Heroin Dependence 0.224136878727581 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3106 HLA-B major histocompatibility complex, class I, B umls:C0020517 Hypersensitivity 0.224107914661467 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4522 MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase umls:C0027794 Neural Tube Defects 0.224107914661467 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7356 SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) umls:C0021368 Inflammation 0.224107914661467 7 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0018671 Head and Neck Neoplasms 0.224107914661467 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4221 MEN1 multiple endocrine neoplasia I umls:C0017150 Gastrinoma 0.224088336306342 26 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2147 F2 coagulation factor II (thrombin) umls:C0005779 Blood Coagulation Disorders 0.224087847768982 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1116 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) umls:C0036341 Schizophrenia 0.224058883702869 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C0022661 Kidney Failure, Chronic 0.224038816810384 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6367 CCL22 chemokine (C-C motif) ligand 22 umls:C0011615 Dermatitis, Atopic 0.224030408174115 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 595 CCND1 cyclin D1 umls:C0040136 Thyroid Neoplasms 0.224030408174115 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2115 ETV1 ets variant 1 umls:C0033578 Prostatic Neoplasms 0.224030408174115 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4851 NOTCH1 notch 1 umls:C1458155 Breast Neoplasms 0.224030408174115 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6776 STAT5A signal transducer and activator of transcription 5A umls:C1458155 Breast Neoplasms 0.224030408174115 10 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0023470 Leukemia, Myeloid 0.223989785851786 37 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5925 RB1 retinoblastoma 1 umls:C0029463 Osteosarcoma 0.223940754893188 41 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0001206 Acromegaly 0.223911790827074 37 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 367 AR androgen receptor umls:C0002170 Alopecia 0.223902405116085 7 Biomarker, GeneticVariation CTD_human, GAD 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0004782 Basal Ganglia Diseases 0.223902405116085 7 Biomarker, GeneticVariation CTD_human, GAD 1956 EGFR epidermal growth factor receptor umls:C0027643 Neoplasm Recurrence, Local 0.223902405116085 8 Biomarker, GeneticVariation CTD_human, GAD 2099 ESR1 estrogen receptor 1 umls:C0024667 Mammary Neoplasms, Animal 0.223902405116085 8 Biomarker, GeneticVariation CTD_human, GAD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0013182 Drug Hypersensitivity 0.223902405116085 7 Biomarker, GeneticVariation CTD_human, GAD 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C0023903 Liver Neoplasms 0.223902405116085 7 Biomarker, GeneticVariation CTD_human, GAD 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0236969 Substance-Related Disorders 0.223902405116085 7 Biomarker, GeneticVariation CTD_human, GAD 7157 TP53 tumor protein p53 umls:C0007621 Cell Transformation, Neoplastic 0.223902405116085 7 Biomarker, GeneticVariation CTD_human, GAD 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0038356 Stomach Neoplasms 0.223902405116085 7 Biomarker, GeneticVariation CTD_human, GAD 865 CBFB core-binding factor, beta subunit umls:C0023467 Leukemia, Myeloid, Acute 0.22389172393459 50 Biomarker, GeneticVariation BeFree, CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0027627 Neoplasm Metastasis 0.223862759868476 42 Biomarker BeFree, CTD_human, LHGDN 3662 IRF4 interferon regulatory factor 4 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.223853374157487 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3426 CFI complement factor I umls:C0242383 Macular Degeneration 0.223775379132775 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0004153 Atherosclerosis 0.223775379132775 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4485 MST1 macrophage stimulating 1 (hepatocyte growth factor-like) umls:C0009324 Colitis, Ulcerative 0.223775379132775 12 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 57167 SALL4 spalt-like transcription factor 4 umls:C0013261 Duane Retraction Syndrome 0.223746903604021 9 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 55145 THAP1 THAP domain containing, apoptosis associated protein 1 umls:C0393593 Dystonic Disorders 0.223706281281692 33 Biomarker, GeneticVariation BeFree, CTD_human, GAD 135 ADORA2A adenosine A2a receptor umls:C0030319 Panic Disorder 0.223697384108063 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 552 AVPR1A arginine vasopressin receptor 1A umls:C0004352 Autistic Disorder 0.223697384108063 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5108 PCM1 pericentriolar material 1 umls:C0036341 Schizophrenia 0.223697384108063 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1030 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) umls:C0026986 Myelodysplastic Syndromes 0.223628286256981 33 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C2239176 Carcinoma, Hepatocellular 0.223628286256981 33 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0003850 Arteriosclerosis 0.223608219364496 49 Biomarker, Therapeutic BeFree, CTD_human 7253 TSHR thyroid stimulating hormone receptor umls:C0040136 Thyroid Neoplasms 0.223570358124753 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C0011854 Diabetes Mellitus, Type 1 0.223569869587393 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0026764 Multiple Myeloma 0.223550291232269 31 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 1281 COL3A1 collagen, type III, alpha 1 umls:C0013720 Ehlers-Danlos Syndrome 0.223550291232269 30 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C1458155 Breast Neoplasms 0.223541394058639 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3290 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 umls:C0020538 Hypertension 0.223491874562681 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0004943 Behcet Syndrome 0.223491874562681 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 221458 KIF6 kinesin family member 6 umls:C0027051 Myocardial Infarction 0.223491874562681 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0011860 Diabetes Mellitus, Type 2 0.223491874562681 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0007097 Carcinoma 0.223463399033928 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1291 COL6A1 collagen, type VI, alpha 1 umls:C0026850 Muscular Dystrophies 0.223463399033928 9 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0030297 Pancreatic Neoplasms 0.223463399033928 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0032285 Pneumonia 0.223442843604083 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7172 TPMT thiopurine S-methyltransferase umls:C0023530 Leukopenia 0.223422776711599 32 Biomarker, GeneticVariation BeFree, CTD_human, GAD 328 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 umls:C0025202 Melanoma 0.22341387953797 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3240 HP haptoglobin umls:C0027051 Myocardial Infarction 0.22341387953797 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0035309 Retinal Diseases 0.223373745753001 41 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1908 EDN3 endothelin 3 umls:C0019569 Hirschsprung Disease 0.223364848579371 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0030297 Pancreatic Neoplasms 0.223335884513258 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 241 ALOX5AP arachidonate 5-lipoxygenase-activating protein umls:C0004153 Atherosclerosis 0.2232863650173 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4023 LPL lipoprotein lipase umls:C0020443 Hypercholesterolemia 0.2232863650173 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5966 REL v-rel avian reticuloendotheliosis viral oncogene homolog umls:C0003873 Arthritis, Rheumatoid 0.2232863650173 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0038358 Stomach Ulcer 0.2232863650173 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6794 STK11 serine/threonine kinase 11 umls:C0007137 Carcinoma, Squamous Cell 0.223257889488546 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0001418 Adenocarcinoma 0.223237822596061 23 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4000 LMNA lamin A/C umls:C0686353 Muscular Dystrophies, Limb-Girdle 0.223237822596061 20 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5329 PLAUR plasminogen activator, urokinase receptor umls:C0027627 Neoplasm Metastasis 0.223208858529948 16 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0001418 Adenocarcinoma 0.223208858529948 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3593 IL12B interleukin 12B umls:C0009324 Colitis, Ulcerative 0.223208369992588 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 22943 DKK1 dickkopf WNT signaling pathway inhibitor 1 umls:C1458155 Breast Neoplasms 0.223179894463834 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4314 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) umls:C1458155 Breast Neoplasms 0.223179894463834 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6752 SSTR2 somatostatin receptor 2 umls:C0030297 Pancreatic Neoplasms 0.223179894463834 10 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0005695 Urinary Bladder Neoplasms 0.223179894463834 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C0003811 Arrhythmias, Cardiac 0.223170675193475 10 GeneticVariation CLINVAR, GAD 11330 CTRC chymotrypsin C (caldecrin) umls:C0149521 Pancreatitis, Chronic 0.22315933903399 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3458 IFNG interferon, gamma umls:C0002874 Anemia, Aplastic 0.22315933903399 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4018 LPA lipoprotein, Lp(a) umls:C0007222 Cardiovascular Diseases 0.22315933903399 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C2239176 Carcinoma, Hepatocellular 0.223139272141505 31 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1576 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 umls:C1458155 Breast Neoplasms 0.223130374967876 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0948089 Acute Coronary Syndrome 0.223130374967876 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0036202 Sarcoidosis 0.223130374967876 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 50941 IBD5 inflammatory bowel disease 5 umls:C0021390 Inflammatory Bowel Diseases 0.223110308075391 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 23418 CRB1 crumbs family member 1, photoreceptor morphogenesis associated umls:C0339527 Leber Congenital Amaurosis 0.223090241182907 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.223090241182907 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6240 RRM1 ribonucleotide reductase M1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.223090241182907 39 Biomarker, GeneticVariation BeFree, CTD_human, GAD 59272 ACE2 angiotensin I converting enzyme 2 umls:C0011881 Diabetic Nephropathies 0.223081344009278 14 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 4018 LPA lipoprotein, Lp(a) umls:C0004153 Atherosclerosis 0.223061277116793 32 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3439 IFNA1 interferon, alpha 1 umls:C0019163 Hepatitis B 0.223041210224309 47 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0149931 Migraine Disorders 0.22303231305068 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 846 CASR calcium-sensing receptor umls:C0020626 Hypoparathyroidism 0.22303231305068 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9927 MFN2 mitofusin 2 umls:C0007959 Charcot-Marie-Tooth Disease 0.223004003962556 49 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 152 ADRA2C adrenoceptor alpha 2C umls:C0018801 Heart Failure 0.223002860447206 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0007137 Carcinoma, Squamous Cell 0.223002860447206 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3363 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled umls:C0036341 Schizophrenia 0.223002860447206 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3394 IRF8 interferon regulatory factor 8 umls:C0026769 Multiple Sclerosis 0.223002860447206 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0011854 Diabetes Mellitus, Type 1 0.223002860447206 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7297 TYK2 tyrosine kinase 2 umls:C0026769 Multiple Sclerosis 0.223002860447206 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4763 NF1 neurofibromin 1 umls:C0162678 Neurofibromatoses 0.222983282092081 31 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 949 SCARB1 scavenger receptor class B, member 1 umls:C0019196 Hepatitis C 0.222974384918452 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5251 PHEX phosphate regulating endopeptidase homolog, X-linked umls:C3536983 Familial Hypophosphatemic Rickets 0.222954318025968 22 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0017638 Glioma 0.222954318025968 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0007134 Carcinoma, Renal Cell 0.222953829488608 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3586 IL10 interleukin 10 umls:C0022104 Irritable Bowel Syndrome 0.222953829488608 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0162872 Aortic Aneurysm, Thoracic 0.222953829488608 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0206698 Cholangiocarcinoma 0.222925353959854 14 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 185 AGTR1 angiotensin II receptor, type 1 umls:C0162871 Aortic Aneurysm, Abdominal 0.222924865422494 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0025202 Melanoma 0.222924865422494 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 90865 IL33 interleukin 33 umls:C0004096 Asthma 0.22290479853001 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 581 BAX BCL2-associated X protein umls:C1458155 Breast Neoplasms 0.22289638989374 7 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C1458155 Breast Neoplasms 0.22289638989374 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1869 E2F1 E2F transcription factor 1 umls:C1458155 Breast Neoplasms 0.22289638989374 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3725 JUN jun proto-oncogene umls:C1458155 Breast Neoplasms 0.22289638989374 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4288 MKI67 marker of proliferation Ki-67 umls:C1458155 Breast Neoplasms 0.22289638989374 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0030297 Pancreatic Neoplasms 0.22289638989374 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C0027651 Neoplasms 0.22289638989374 7 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0017924 Glycogen Storage Disease Type V 0.222846870397782 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2572 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) umls:C0036341 Schizophrenia 0.222846870397782 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2784 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 umls:C1956346 Coronary Artery Disease 0.222846870397782 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0030297 Pancreatic Neoplasms 0.222846870397782 8 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0279626 Esophageal Squamous Cell Carcinoma 0.222806736612813 38 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0009404 Colorectal Neoplasms 0.22276887537307 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1789 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta umls:C0007097 Carcinoma 0.22276887537307 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8647 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 umls:C0268312 Cholestasis, progressive familial intrahepatic 1 0.222757705654215 46 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 4594 MUT methylmalonyl CoA mutase umls:C0268583 Methylmalonic acidemia 0.222757705654215 46 Biomarker, GeneticVariation BeFree, CTD_human 10019 SH2B3 SH2B adaptor protein 3 umls:C0007570 Celiac Disease 0.222719355877112 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54106 TLR9 toll-like receptor 9 umls:C0010346 Crohn Disease 0.222719355877112 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2184 FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) umls:C0268483 Tyrosinemias 0.222699777521988 30 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0017636 Glioblastoma 0.222699777521988 29 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0033578 Prostatic Neoplasms 0.222690880348358 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C0009404 Colorectal Neoplasms 0.222690880348358 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7508 XPC xeroderma pigmentosum, complementation group C umls:C0024121 Lung Neoplasms 0.222690880348358 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 11200 CHEK2 checkpoint kinase 2 umls:C0085390 Li-Fraumeni Syndrome 0.222670813455874 20 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4851 NOTCH1 notch 1 umls:C0024299 Lymphoma 0.222670813455874 21 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2113 ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1 umls:C0024141 Lupus Erythematosus, Systemic 0.222670324918514 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 598 BCL2L1 BCL2-like 1 umls:C2239176 Carcinoma, Hepatocellular 0.22264184938976 15 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 6401 SELE selectin E umls:C0007222 Cardiovascular Diseases 0.2226413608524 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2065 ERBB3 erb-b2 receptor tyrosine kinase 3 umls:C0033578 Prostatic Neoplasms 0.222612885323647 5 AlteredExpression, Biomarker CTD_human, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0021368 Inflammation 0.222612885323647 7 AlteredExpression, Biomarker CTD_human, LHGDN 1890 TYMP thymidine phosphorylase umls:C0038356 Stomach Neoplasms 0.222612885323647 6 AlteredExpression, Biomarker CTD_human, LHGDN 847 CAT catalase umls:C0004096 Asthma 0.222592329893802 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 345 APOC3 apolipoprotein C-III umls:C0010068 Coronary Disease 0.222584087698163 25 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0003873 Arthritis, Rheumatoid 0.222543298935204 22 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2562 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 umls:C0014553 Epilepsy, Absence 0.22251433486909 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1356 CP ceruloplasmin (ferroxidase) umls:C0030567 Parkinson Disease 0.222485370802977 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0024121 Lung Neoplasms 0.222485370802977 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 57192 MCOLN1 mucolipin 1 umls:C0026697 Mucolipidoses 0.222485370802977 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6934 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) umls:C0009375 Colonic Neoplasms 0.222485370802977 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5048 PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) umls:C0266463 Lissencephaly 0.222474201084121 44 Biomarker, GeneticVariation BeFree, CTD_human 7099 TLR4 toll-like receptor 4 umls:C1956346 Coronary Artery Disease 0.222436339844379 12 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7137 TNNI3 troponin I type 3 (cardiac) umls:C0007196 Cardiomyopathy, Restrictive 0.222436339844379 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1138 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) umls:C0001973 Alcoholism 0.222435851307019 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3592 IL12A interleukin 12A umls:C0026769 Multiple Sclerosis 0.222435851307019 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3566 IL4R interleukin 4 receptor umls:C0019693 HIV Infections 0.222435851307019 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7298 TYMS thymidylate synthetase umls:C0034885 Rectal Neoplasms 0.222435851307019 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3075 CFH complement factor H umls:C0017662 Glomerulonephritis, Membranoproliferative 0.222416272951894 26 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 10117 ENAM enamelin umls:C0002452 Amelogenesis Imperfecta 0.222416272951894 27 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0242339 Dyslipidemias 0.222416272951894 29 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 8434 RECK reversion-inducing-cysteine-rich protein with kazal motifs umls:C0027627 Neoplasm Metastasis 0.222416272951894 28 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0206698 Cholangiocarcinoma 0.222416272951894 28 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0033578 Prostatic Neoplasms 0.222407375778265 7 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0027651 Neoplasms 0.222407375778265 6 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2335 FN1 fibronectin 1 umls:C0007097 Carcinoma 0.22238730888578 21 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5467 PPARD peroxisome proliferator-activated receptor delta umls:C0028754 Obesity 0.22238682034842 14 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 5915 RARB retinoic acid receptor, beta umls:C0007137 Carcinoma, Squamous Cell 0.222358344819667 13 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 219771 CCNY cyclin Y umls:C0009324 Colitis, Ulcerative 0.222357856282307 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.222357856282307 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 383 ARG1 arginase 1 umls:C0004096 Asthma 0.222308825323709 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1235 CCR6 chemokine (C-C motif) receptor 6 umls:C0003873 Arthritis, Rheumatoid 0.222308825323709 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0042870 Vitamin D Deficiency 0.222308825323709 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0005695 Urinary Bladder Neoplasms 0.222279861257595 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1071 CETP cholesteryl ester transfer protein, plasma umls:C0020445 Hyperlipoproteinemia Type II 0.222230830298997 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5327 PLAT plasminogen activator, tissue umls:C0027051 Myocardial Infarction 0.222230830298997 45 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 7100 TLR5 toll-like receptor 5 umls:C0024141 Lupus Erythematosus, Systemic 0.222230830298997 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0043251 Wounds and Injuries 0.222201866232883 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4353 MPO myeloperoxidase umls:C0021368 Inflammation 0.222201866232883 9 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0024121 Lung Neoplasms 0.222201866232883 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0023530 Leukopenia 0.222190696514028 47 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 7486 WRN Werner syndrome, RecQ helicase-like umls:C0231341 Aging, Premature 0.222190696514028 44 Biomarker, GeneticVariation BeFree, CTD_human 7369 UMOD uromodulin umls:C0022658 Kidney Diseases 0.222181799340399 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 921 CD5 CD5 molecule umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.222152835274285 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3107 HLA-C major histocompatibility complex, class I, C umls:C0038325 Stevens-Johnson Syndrome 0.222152346736925 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2189 FANCG Fanconi anemia, complementation group G umls:C0015625 Fanconi Anemia 0.2221327683818 26 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3458 IFNG interferon, gamma umls:C0011615 Dermatitis, Atopic 0.2221327683818 28 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6615 SNAI1 snail family zinc finger 1 umls:C0027627 Neoplasm Metastasis 0.2221327683818 28 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 340273 ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 umls:C0025202 Melanoma 0.222103804315687 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 8091 HMGA2 high mobility group AT-hook 2 umls:C0027651 Neoplasms 0.222103804315687 19 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0002871 Anemia 0.222103804315687 20 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 23187 PHLDB1 pleckstrin homology-like domain, family B, member 1 umls:C0017638 Glioma 0.222103315778327 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7337 UBE3A ubiquitin protein ligase E3A umls:C0004352 Autistic Disorder 0.222103315778327 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4292 MLH1 mutL homolog 1 umls:C0919267 Ovarian Neoplasms 0.222074840249573 11 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.222074351712213 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0162820 Dermatitis, Allergic Contact 0.222074351712213 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3240 HP haptoglobin umls:C0011860 Diabetes Mellitus, Type 2 0.222054284819729 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4193 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase umls:C0025202 Melanoma 0.222054284819729 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4547 MTTP microsomal triglyceride transfer protein umls:C0015695 Fatty Liver 0.222025320753615 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7128 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 umls:C0033860 Psoriasis 0.222025320753615 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3596 IL13 interleukin 13 umls:C2607914 Rhinitis, Allergic 0.22200525386113 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0021390 Inflammatory Bowel Diseases 0.22200525386113 27 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5172 SLC26A4 solute carrier family 26 (anion exchanger), member 4 umls:C0018021 Goiter 0.22200525386113 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0009404 Colorectal Neoplasms 0.221996356687501 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1906 EDN1 endothelin 1 umls:C0032914 Pre-Eclampsia 0.221996356687501 6 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 9 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) umls:C0005695 Urinary Bladder Neoplasms 0.221996356687501 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1312 COMT catechol-O-methyltransferase umls:C0004936 Mental Disorders 0.221956222902532 36 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0004153 Atherosclerosis 0.221947325728903 12 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4221 MEN1 multiple endocrine neoplasia I umls:C0021670 Insulinoma 0.221927258836419 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5972 REN renin umls:C0027051 Myocardial Infarction 0.221927258836419 28 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 682 BSG basigin (Ok blood group) umls:C0027627 Neoplasm Metastasis 0.22187822787782 35 Biomarker BeFree, CTD_human, LHGDN 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0017638 Glioma 0.22187822787782 34 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 2521 FUS FUS RNA binding protein umls:C0206634 Liposarcoma, Myxoid 0.22187822787782 35 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3558 IL2 interleukin 2 umls:C0023418 Leukemia 0.22187822787782 35 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 923 CD6 CD6 molecule umls:C0026769 Multiple Sclerosis 0.221868842166831 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0007786 Brain Ischemia 0.221868842166831 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0011875 Diabetic Angiopathies 0.221868842166831 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0009404 Colorectal Neoplasms 0.221868842166831 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1811 SLC26A3 solute carrier family 26 (anion exchanger), member 3 umls:C0009324 Colitis, Ulcerative 0.221868842166831 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0030567 Parkinson Disease 0.221868842166831 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6506 SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 umls:C0002736 Amyotrophic Lateral Sclerosis 0.221849263811707 27 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7980 TFPI2 tissue factor pathway inhibitor 2 umls:C0027627 Neoplasm Metastasis 0.221849263811707 25 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 1869 E2F1 E2F transcription factor 1 umls:C0025202 Melanoma 0.221820299745593 15 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 847 CAT catalase umls:C0011860 Diabetes Mellitus, Type 2 0.221819811208233 15 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3240 HP haptoglobin umls:C0011854 Diabetes Mellitus, Type 1 0.221819811208233 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8431 NR0B2 nuclear receptor subfamily 0, group B, member 2 umls:C0028754 Obesity 0.221819811208233 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6422 SFRP1 secreted frizzled-related protein 1 umls:C1458155 Breast Neoplasms 0.221791335679479 8 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0040136 Thyroid Neoplasms 0.221791335679479 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 153 ADRB1 adrenoceptor beta 1 umls:C0151744 Myocardial Ischemia 0.221790847142119 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1806 DPYD dihydropyrimidine dehydrogenase umls:C0038356 Stomach Neoplasms 0.221790847142119 8 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2243 FGA fibrinogen alpha chain umls:C1861172 Venous Thromboembolism 0.221790847142119 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2811 GP1BA glycoprotein Ib (platelet), alpha polypeptide umls:C0040053 Thrombosis 0.221790847142119 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0018939 Hematologic Diseases 0.221790847142119 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0008924 Cleft Lip 0.221790847142119 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0008925 Cleft Palate 0.221790847142119 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4843 NOS2 nitric oxide synthase 2, inducible umls:C0021368 Inflammation 0.221790847142119 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0340274 Hypertension, Pregnancy-Induced 0.221790847142119 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4092 SMAD7 SMAD family member 7 umls:C0009404 Colorectal Neoplasms 0.221790847142119 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6606 SMN1 survival of motor neuron 1, telomeric umls:C0700595 Spinal Muscular Atrophies of Childhood 0.221790847142119 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6775 STAT4 signal transducer and activator of transcription 4 umls:C1527336 Sjogren's Syndrome 0.221790847142119 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0005138 Berylliosis 0.221790847142119 8 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0036983 Shock, Septic 0.221790847142119 6 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0007570 Celiac Disease 0.221770780249635 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2629 GBA glucosidase, beta, acid umls:C0752347 Lewy Body Disease 0.221741816183521 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1767 DNAH5 dynein, axonemal, heavy chain 5 umls:C0022521 Kartagener Syndrome 0.221692785224923 17 Biomarker, GeneticVariation BeFree, GAD, LHGDN, UNIPROT 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C0040479 Torsades de Pointes 0.221692785224923 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C0017668 Glomerulosclerosis, Focal Segmental 0.221692785224923 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3988 LIPA lipase A, lysosomal acid, cholesterol esterase umls:C0008384 Cholesterol Ester Storage Disease 0.221672718332439 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3292 HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1 umls:C0014175 Endometriosis 0.221663821158809 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0019187 Hepatitis, Alcoholic 0.221663821158809 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0022593 Keratosis 0.221663821158809 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5617 PRL prolactin umls:C0032019 Pituitary Neoplasms 0.22162368737384 44 Biomarker, Therapeutic BeFree, CTD_human 1956 EGFR epidermal growth factor receptor umls:C0206698 Cholangiocarcinoma 0.221614790200211 18 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 2034 EPAS1 endothelial PAS domain protein 1 umls:C0007134 Carcinoma, Renal Cell 0.221614790200211 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0022596 Keratoderma, Palmoplantar 0.221614790200211 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 26277 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 umls:C0265965 Dyskeratosis Congenita 0.221614790200211 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3718 JAK3 Janus kinase 3 umls:C0085110 Severe Combined Immunodeficiency 0.221586481112088 44 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0001925 Albuminuria 0.221585337596738 8 Biomarker, GeneticVariation CTD_human, GAD 629 CFB complement factor B umls:C0024141 Lupus Erythematosus, Systemic 0.221585337596738 5 Biomarker, GeneticVariation CTD_human, GAD 2147 F2 coagulation factor II (thrombin) umls:C0019080 Hemorrhage 0.221585337596738 6 Biomarker, GeneticVariation CTD_human, GAD 2952 GSTT1 glutathione S-transferase theta 1 umls:C0022665 Kidney Neoplasms 0.221585337596738 5 Biomarker, GeneticVariation CTD_human, GAD 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0005138 Berylliosis 0.221585337596738 9 Biomarker, GeneticVariation CTD_human, GAD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0020517 Hypersensitivity 0.221585337596738 6 Biomarker, GeneticVariation CTD_human, GAD 3553 IL1B interleukin 1, beta umls:C0007786 Brain Ischemia 0.221585337596738 9 Biomarker, GeneticVariation CTD_human, GAD 3990 LIPC lipase, hepatic umls:C0021655 Insulin Resistance 0.221585337596738 6 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0852077 Blood Coagulation Disorders, Inherited 0.221585337596738 6 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0860207 Drug-Induced Liver Injury 0.221585337596738 6 Biomarker, GeneticVariation CTD_human, GAD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0004238 Atrial Fibrillation 0.221585337596738 6 GeneticVariation, Therapeutic CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0700359 Organophosphate Poisoning 0.221585337596738 8 GeneticVariation, Therapeutic CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0007786 Brain Ischemia 0.221585337596738 6 Biomarker, GeneticVariation CTD_human, GAD 1019 CDK4 cyclin-dependent kinase 4 umls:C0007097 Carcinoma 0.221536795175499 17 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0027819 Neuroblastoma 0.221536795175499 17 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 958 CD40 CD40 molecule, TNF receptor superfamily member 5 umls:C0026769 Multiple Sclerosis 0.221536306638139 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0023903 Liver Neoplasms 0.221536306638139 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7097 TLR2 toll-like receptor 2 umls:C0023343 Leprosy 0.221536306638139 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0028754 Obesity 0.221536306638139 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3249 HPN hepsin umls:C0033578 Prostatic Neoplasms 0.221507831109386 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6623 SNCG synuclein, gamma (breast cancer-specific protein 1) umls:C1458155 Breast Neoplasms 0.221507831109386 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C0085298 Death, Sudden, Cardiac 0.221470136310273 9 GeneticVariation CLINVAR, GAD, LHGDN 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0085298 Death, Sudden, Cardiac 0.221470136310273 9 GeneticVariation CLINVAR, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C1956346 Coronary Artery Disease 0.221458311613428 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0034069 Pulmonary Fibrosis 0.221458311613428 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2130 EWSR1 EWS RNA-binding protein 1 umls:C0206663 Neuroectodermal Tumors, Primitive 0.221340182803747 41 Biomarker, GeneticVariation BeFree, CTD_human 2688 GH1 growth hormone 1 umls:C0041408 Turner Syndrome 0.221340182803747 41 Biomarker, Therapeutic BeFree, CTD_human 7248 TSC1 tuberous sclerosis 1 umls:C0007134 Carcinoma, Renal Cell 0.221340182803747 41 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0009319 Colitis 0.221311218737633 33 Biomarker BeFree, CTD_human, LHGDN 4729 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa umls:C0036341 Schizophrenia 0.221302321564004 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1116 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) umls:C0017636 Glioblastoma 0.221253290605406 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 9211 LGI1 leucine-rich, glioma inactivated 1 umls:C0017638 Glioma 0.221253290605406 14 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 200879 LIPH lipase, member H umls:C0020678 Hypotrichosis 0.221253290605406 15 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6557 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 umls:C0004775 Bartter Syndrome 0.221253290605406 15 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7054 TH tyrosine hydroxylase umls:C0013421 Dystonia 0.221253290605406 16 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 70 ACTC1 actin, alpha, cardiac muscle 1 umls:C0007193 Cardiomyopathy, Dilated 0.221252802068046 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.221252802068046 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0017638 Glioma 0.221252802068046 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4864 NPC1 Niemann-Pick disease, type C1 umls:C0028754 Obesity 0.221252802068046 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3732 CD82 CD82 molecule umls:C0033578 Prostatic Neoplasms 0.221224326539292 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2852 GPER1 G protein-coupled estrogen receptor 1 umls:C1458155 Breast Neoplasms 0.221224326539292 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0021364 Infertility, Male 0.221174807043334 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0011615 Dermatitis, Atopic 0.221174807043334 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3953 LEPR leptin receptor umls:C0020538 Hypertension 0.221174807043334 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 57661 PHRF1 PHD and ring finger domains 1 umls:C0024141 Lupus Erythematosus, Systemic 0.221174807043334 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2645 GCK glucokinase (hexokinase 4) umls:C2931834 Congenital Hyperinsulinism 0.221125776084736 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3146 HMGB1 high mobility group box 1 umls:C0243026 Sepsis 0.221125776084736 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4900 NRGN neurogranin (protein kinase C substrate, RC3) umls:C0036341 Schizophrenia 0.221125776084736 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1756 DMD dystrophin umls:C0878544 Cardiomyopathies 0.221105709192251 35 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 2778 GNAS GNAS complex locus umls:C2931404 Albright's hereditary osteodystrophy 0.221105709192251 34 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5972 REN renin umls:C0018801 Heart Failure 0.221105709192251 35 Biomarker, GeneticVariation BeFree, CTD_human, GAD 22854 NTNG1 netrin G1 umls:C0036341 Schizophrenia 0.221096812018622 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2688 GH1 growth hormone 1 umls:C0001206 Acromegaly 0.221056678233653 46 Biomarker, GeneticVariation BeFree, CTD_human 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0004114 Astrocytoma 0.221047781060024 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 859 CAV3 caveolin 3 umls:C0686353 Muscular Dystrophies, Limb-Girdle 0.221027714167539 32 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0009404 Colorectal Neoplasms 0.22101881699391 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10491 CRTAP cartilage associated protein umls:C0029434 Osteogenesis Imperfecta 0.220998750101426 22 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 199713 NLRP7 NLR family, pyrin domain containing 7 umls:C0020217 Hydatidiform Mole 0.220998750101426 22 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 64175 P3H1 prolyl 3-hydroxylase 1 umls:C0029434 Osteogenesis Imperfecta 0.220998750101426 22 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0027627 Neoplasm Metastasis 0.220969786035312 16 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 3717 JAK2 Janus kinase 2 umls:C0009324 Colitis, Ulcerative 0.220969297497952 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5078 PAX4 paired box 4 umls:C0011854 Diabetes Mellitus, Type 1 0.220969297497952 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6647 SOD1 superoxide dismutase 1, soluble umls:C0011860 Diabetes Mellitus, Type 2 0.220969297497952 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4363 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 umls:C1458155 Breast Neoplasms 0.220940821969198 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 581 BAX BCL2-associated X protein umls:C0009375 Colonic Neoplasms 0.220940821969198 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1813 DRD2 dopamine receptor D2 umls:C0013384 Dyskinesias 0.220940821969198 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0038356 Stomach Neoplasms 0.220940821969198 10 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 1969 EPHA2 EPH receptor A2 umls:C0027651 Neoplasms 0.220940821969198 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8493 PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D umls:C1458155 Breast Neoplasms 0.220940821969198 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5915 RARB retinoic acid receptor, beta umls:C1458155 Breast Neoplasms 0.220940821969198 8 AlteredExpression, Biomarker, PostTranslationalModification, Therapeutic BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0919267 Ovarian Neoplasms 0.220940821969198 8 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0524909 Hepatitis B, Chronic 0.220920266539354 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4129 MAOB monoamine oxidase B umls:C0036341 Schizophrenia 0.220920266539354 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3458 IFNG interferon, gamma umls:C0243026 Sepsis 0.22089130247324 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0002895 Anemia, Sickle Cell 0.22089130247324 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 627 BDNF brain-derived neurotrophic factor umls:C0033975 Psychotic Disorders 0.220871235580756 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3458 IFNG interferon, gamma umls:C0004364 Autoimmune Diseases 0.220871235580756 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3662 IRF4 interferon regulatory factor 4 umls:C0026764 Multiple Myeloma 0.220871235580756 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3596 IL13 interleukin 13 umls:C0033860 Psoriasis 0.220842271514642 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0948089 Acute Coronary Syndrome 0.220813307448528 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3559 IL2RA interleukin 2 receptor, alpha umls:C0019693 HIV Infections 0.220793240556044 24 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C2316212 Cryopyrin-Associated Periodic Syndromes 0.220773173663559 40 Biomarker, GeneticVariation BeFree, CTD_human 1311 COMP cartilage oligomeric matrix protein umls:C0029408 Osteoarthritis 0.22076427648993 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9126 SMC3 structural maintenance of chromosomes 3 umls:C0270972 De Lange Syndrome 0.22076427648993 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0007137 Carcinoma, Squamous Cell 0.220744209597446 30 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0023465 Leukemia, Monocytic, Acute 0.220744209597446 30 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1813 DRD2 dopamine receptor D2 umls:C0032019 Pituitary Neoplasms 0.220735312423816 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0009375 Colonic Neoplasms 0.220735312423816 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0005695 Urinary Bladder Neoplasms 0.220735312423816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0030297 Pancreatic Neoplasms 0.220735312423816 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2006 ELN elastin umls:C0010495 Cutis Laxa 0.220715245531332 21 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2057 EPOR erythropoietin receptor umls:C0032461 Polycythemia 0.220715245531332 22 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3251 HPRT1 hypoxanthine phosphoribosyltransferase 1 umls:C0740394 Hyperuricemia 0.220715245531332 20 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C0238358 Hypokalemic Periodic Paralysis 0.220715245531332 22 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0206692 Carcinoma, Lobular 0.220686281465218 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 10084 PQBP1 polyglutamine binding protein 1 umls:C1136249 Mental Retardation, X-Linked 0.220686281465218 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2952 GSTT1 glutathione S-transferase theta 1 umls:C0026764 Multiple Myeloma 0.220685792927858 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3077 HFE hemochromatosis umls:C0026986 Myelodysplastic Syndromes 0.220685792927858 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3176 HNMT histamine N-methyltransferase umls:C0004096 Asthma 0.220685792927858 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0031099 Periodontitis 0.220685792927858 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0004352 Autistic Disorder 0.220685792927858 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5445 PON2 paraoxonase 2 umls:C0007222 Cardiovascular Diseases 0.220685792927858 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0006267 Bronchiectasis 0.220685792927858 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2152 F3 coagulation factor III (thromboplastin, tissue factor) umls:C1458155 Breast Neoplasms 0.220657317399105 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4830 NME1 NME/NM23 nucleoside diphosphate kinase 1 umls:C0009404 Colorectal Neoplasms 0.220657317399105 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6615 SNAI1 snail family zinc finger 1 umls:C1458155 Breast Neoplasms 0.220657317399105 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6591 SNAI2 snail family zinc finger 2 umls:C1458155 Breast Neoplasms 0.220657317399105 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6696 SPP1 secreted phosphoprotein 1 umls:C0024121 Lung Neoplasms 0.220657317399105 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6714 SRC SRC proto-oncogene, non-receptor tyrosine kinase umls:C0009375 Colonic Neoplasms 0.220657317399105 7 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 51741 WWOX WW domain containing oxidoreductase umls:C1458155 Breast Neoplasms 0.220657317399105 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 627 BDNF brain-derived neurotrophic factor umls:C0014544 Epilepsy 0.22063676196926 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2952 GSTT1 glutathione S-transferase theta 1 umls:C0007134 Carcinoma, Renal Cell 0.22063676196926 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6720 SREBF1 sterol regulatory element binding transcription factor 1 umls:C0028754 Obesity 0.22063676196926 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0007785 Cerebral Infarction 0.220607797903147 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5444 PON1 paraoxonase 1 umls:C0003873 Arthritis, Rheumatoid 0.220607797903147 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0026769 Multiple Sclerosis 0.220607797903147 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0151744 Myocardial Ischemia 0.220607797903147 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2912 GRM2 glutamate receptor, metabotropic 2 umls:C0036341 Schizophrenia 0.220558766944548 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0878544 Cardiomyopathies 0.220558766944548 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0151744 Myocardial Ischemia 0.220538700052064 34 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 4179 CD46 CD46 molecule, complement regulatory protein umls:C0025007 Measles 0.220489669093466 38 Biomarker, GeneticVariation BeFree, CTD_human 55636 CHD7 chromodomain helicase DNA binding protein 7 umls:C0162809 Kallmann Syndrome 0.220480771919837 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0017638 Glioma 0.220480771919837 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 355 FAS Fas cell surface death receptor umls:C0004364 Autoimmune Diseases 0.220480771919837 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0027022 Myeloproliferative Disorders 0.220460705027352 30 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3000 GUCY2D guanylate cyclase 2D, membrane (retina-specific) umls:C0035334 Retinitis Pigmentosa 0.220460705027352 28 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0001418 Adenocarcinoma 0.220451807853723 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 50506 DUOX2 dual oxidase 2 umls:C0010308 Congenital Hypothyroidism 0.220431740961238 19 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1890 TYMP thymidine phosphorylase umls:C0027627 Neoplasm Metastasis 0.220431740961238 22 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1116 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) umls:C0017638 Glioma 0.220402776895125 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0206698 Cholangiocarcinoma 0.220402776895125 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 386653 IL31 interleukin 31 umls:C0011615 Dermatitis, Atopic 0.220402776895125 14 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3952 LEP leptin umls:C0085207 Diabetes, Gestational 0.220402776895125 14 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7298 TYMS thymidylate synthetase umls:C0007137 Carcinoma, Squamous Cell 0.220402776895125 14 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 64241 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 umls:C1956346 Coronary Artery Disease 0.220402288357765 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C0018133 Graft vs Host Disease 0.220402288357765 9 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3560 IL2RB interleukin 2 receptor, beta umls:C0003873 Arthritis, Rheumatoid 0.220402288357765 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0018995 Hemochromatosis 0.220402288357765 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 83990 BRIP1 BRCA1 interacting protein C-terminal helicase 1 umls:C1458155 Breast Neoplasms 0.220373812829011 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0009404 Colorectal Neoplasms 0.220373812829011 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0030297 Pancreatic Neoplasms 0.220373812829011 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 23136 EPB41L3 erythrocyte membrane protein band 4.1-like 3 umls:C1458155 Breast Neoplasms 0.220373812829011 4 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 5915 RARB retinoic acid receptor, beta umls:C0024121 Lung Neoplasms 0.220373812829011 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 864 RUNX3 runt-related transcription factor 3 umls:C0024121 Lung Neoplasms 0.220373812829011 6 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6423 SFRP2 secreted frizzled-related protein 2 umls:C0009404 Colorectal Neoplasms 0.220373812829011 7 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 7367 UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 umls:C0033578 Prostatic Neoplasms 0.220373812829011 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 56729 RETN resistin umls:C0524620 Metabolic Syndrome X 0.220353257399167 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0004352 Autistic Disorder 0.220324293333053 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2539 G6PD glucose-6-phosphate dehydrogenase umls:C0015702 Favism 0.220304226440568 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0003873 Arthritis, Rheumatoid 0.220304226440568 24 Biomarker, GeneticVariation BeFree, CTD_human, GAD 887 CCKBR cholecystokinin B receptor umls:C0030319 Panic Disorder 0.220275262374455 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0015695 Fatty Liver 0.220275262374455 14 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 1832 DSP desmoplakin umls:C0349788 Arrhythmogenic Right Ventricular Dysplasia 0.220267020178816 25 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 4179 CD46 CD46 molecule, complement regulatory protein umls:C2931788 Atypical Hemolytic Uremic Syndrome 0.22025519548197 30 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1234 CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) umls:C0017661 Glomerulonephritis, IGA 0.220246298308341 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0038454 Stroke 0.220246298308341 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5925 RB1 retinoblastoma 1 umls:C2239176 Carcinoma, Hepatocellular 0.220226231415857 23 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, GAD, LHGDN 338 APOB apolipoprotein B umls:C1704417 Hyperlipoproteinemia Type II 0.220206164523372 36 Biomarker, GeneticVariation BeFree, UNIPROT 4155 MBP myelin basic protein umls:C0014072 Encephalomyelitis, Autoimmune, Experimental 0.220206164523372 39 Biomarker BeFree, CTD_human 8912 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit umls:C0014553 Epilepsy, Absence 0.220197267349743 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 847 CAT catalase umls:C0011849 Diabetes Mellitus 0.220197267349743 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1401 CRP C-reactive protein, pentraxin-related umls:C0010346 Crohn Disease 0.220197267349743 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2321 FLT1 fms-related tyrosine kinase 1 umls:C0025202 Melanoma 0.220197267349743 12 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5741 PTH parathyroid hormone umls:C0221002 Hyperparathyroidism, Primary 0.220177855435249 63 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 23095 KIF1B kinesin family member 1B umls:C0007959 Charcot-Marie-Tooth Disease 0.220177855435249 64 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0024121 Lung Neoplasms 0.220168303283629 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0030297 Pancreatic Neoplasms 0.220168303283629 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0014170 Endometrial Neoplasms 0.220168303283629 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 348 APOE apolipoprotein E umls:C0007282 Carotid Stenosis 0.220118783787671 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 145741 C2CD4A C2 calcium-dependent domain containing 4A umls:C0011860 Diabetes Mellitus, Type 2 0.220118783787671 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 64170 CARD9 caspase recruitment domain family, member 9 umls:C0009324 Colitis, Ulcerative 0.220118783787671 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 79258 MMEL1 membrane metallo-endopeptidase-like 1 umls:C0003873 Arthritis, Rheumatoid 0.220118783787671 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4589 MUC7 mucin 7, secreted umls:C0004096 Asthma 0.220118783787671 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 64805 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 umls:C0027051 Myocardial Infarction 0.220118783787671 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5788 PTPRC protein tyrosine phosphatase, receptor type, C umls:C0003873 Arthritis, Rheumatoid 0.220118783787671 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0009324 Colitis, Ulcerative 0.220118783787671 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 79001 VKORC1 vitamin K epoxide reductase complex, subunit 1 umls:C0038454 Stroke 0.220118783787671 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 580 BARD1 BRCA1 associated RING domain 1 umls:C1458155 Breast Neoplasms 0.220090308258917 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0009375 Colonic Neoplasms 0.220090308258917 6 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, LHGDN 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0033578 Prostatic Neoplasms 0.220090308258917 5 Biomarker, GeneticVariation, PostTranslationalModification CTD_human, LHGDN 1806 DPYD dihydropyrimidine dehydrogenase umls:C1458155 Breast Neoplasms 0.220090308258917 5 AlteredExpression, Biomarker CTD_human, LHGDN 2150 F2RL1 coagulation factor II (thrombin) receptor-like 1 umls:C0021368 Inflammation 0.220090308258917 6 Biomarker CTD_human, LHGDN 2875 GPT glutamic-pyruvate transaminase (alanine aminotransferase) umls:C0015695 Fatty Liver 0.220090308258917 5 AlteredExpression, Biomarker CTD_human, LHGDN 2876 GPX1 glutathione peroxidase 1 umls:C1458155 Breast Neoplasms 0.220090308258917 4 Biomarker, GeneticVariation CTD_human, LHGDN 3146 HMGB1 high mobility group box 1 umls:C0021368 Inflammation 0.220090308258917 9 Biomarker CTD_human, LHGDN 3952 LEP leptin umls:C0033578 Prostatic Neoplasms 0.220090308258917 5 Biomarker, GeneticVariation CTD_human, LHGDN 27030 MLH3 mutL homolog 3 umls:C0009404 Colorectal Neoplasms 0.220090308258917 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 4593 MUSK muscle, skeletal, receptor tyrosine kinase umls:C0026896 Myasthenia Gravis 0.220090308258917 5 Biomarker CTD_human, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0033578 Prostatic Neoplasms 0.220090308258917 5 Biomarker, GeneticVariation CTD_human, LHGDN 4879 NPPB natriuretic peptide B umls:C1956346 Coronary Artery Disease 0.220090308258917 5 AlteredExpression, Biomarker CTD_human, LHGDN 6285 S100B S100 calcium binding protein B umls:C0270611 Brain Injuries 0.220090308258917 6 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN 23411 SIRT1 sirtuin 1 umls:C0033578 Prostatic Neoplasms 0.220090308258917 5 AlteredExpression, Biomarker CTD_human, LHGDN 6768 ST14 suppression of tumorigenicity 14 (colon carcinoma) umls:C0033578 Prostatic Neoplasms 0.220090308258917 5 AlteredExpression, Biomarker CTD_human, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0009404 Colorectal Neoplasms 0.220090308258917 5 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0036341 Schizophrenia 0.220069752829073 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0018801 Heart Failure 0.220069752829073 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1584 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 umls:C0001627 Adrenal Hyperplasia, Congenital 0.220061999170794 30 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0020443 Hypercholesterolemia 0.220040788762959 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8644 AKR1C3 aldo-keto reductase family 1, member C3 umls:C0032460 Polycystic Ovary Syndrome 0.220040788762959 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8924 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 umls:C0009324 Colitis, Ulcerative 0.220040788762959 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0037116 Silicosis 0.220040788762959 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0006625 Cachexia 0.220020721870475 21 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0036220 Sarcoma, Kaposi 0.219991757804361 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0038454 Stroke 0.219991757804361 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2048 EPHB2 EPH receptor B2 umls:C0376358 Malignant neoplasm of prostate 0.219971690911877 28 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 3486 IGFBP3 insulin-like growth factor binding protein 3 umls:C0038356 Stomach Neoplasms 0.219962793738247 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0243026 Sepsis 0.219962793738247 6 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 6340 SCNN1G sodium channel, non voltage gated 1 gamma subunit umls:C0010674 Cystic Fibrosis 0.219962793738247 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3309 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) umls:C2239176 Carcinoma, Hepatocellular 0.219942726845763 20 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4023 LPL lipoprotein lipase umls:C0030305 Pancreatitis 0.219942726845763 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 118 ADD1 adducin 1 (alpha) umls:C0085580 Hypertension, Essential 0.219922659953278 35 Biomarker, GeneticVariation BeFree, CTD_human 92140 MTDH metadherin umls:C0027627 Neoplasm Metastasis 0.219922659953278 35 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human 6010 RHO rhodopsin umls:C0035304 Retinal Degeneration 0.219922659953278 36 Biomarker, GeneticVariation BeFree, CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0014859 Esophageal Neoplasms 0.219913762779649 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 100133941 CD24 CD24 molecule umls:C0026769 Multiple Sclerosis 0.219913762779649 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0242339 Dyslipidemias 0.219913762779649 13 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0017636 Glioblastoma 0.219893695887165 27 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1577 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 umls:C0033578 Prostatic Neoplasms 0.219884798713536 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 354 KLK3 kallikrein-related peptidase 3 umls:C2937421 Prostatic Hyperplasia 0.219884798713536 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4214 MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase umls:C1458155 Breast Neoplasms 0.219884798713536 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C0033578 Prostatic Neoplasms 0.219884798713536 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0030297 Pancreatic Neoplasms 0.219884798713536 6 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C1861172 Venous Thromboembolism 0.219884798713536 6 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 5966 REL v-rel avian reticuloendotheliosis viral oncogene homolog umls:C0019829 Hodgkin Disease 0.219884798713536 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C0042514 Tachycardia, Ventricular 0.219884798713536 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3758 KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 umls:C0004775 Bartter Syndrome 0.219864731821051 19 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0005695 Urinary Bladder Neoplasms 0.219835767754937 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1958 EGR1 early growth response 1 umls:C0033578 Prostatic Neoplasms 0.219835767754937 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1136 CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) umls:C0001973 Alcoholism 0.219835279217577 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2701 GJA4 gap junction protein, alpha 4, 37kDa umls:C0020538 Hypertension 0.219835279217577 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 375056 MIA3 melanoma inhibitory activity family, member 3 umls:C1956346 Coronary Artery Disease 0.219835279217577 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4633 MYL2 myosin, light chain 2, regulatory, cardiac, slow umls:C0007194 Cardiomyopathy, Hypertrophic 0.219835279217577 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 221692 PHACTR1 phosphatase and actin regulator 1 umls:C1956346 Coronary Artery Disease 0.219835279217577 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0011884 Diabetic Retinopathy 0.219835279217577 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 137196 CCDC26 CCDC26 long non-coding RNA umls:C0017638 Glioma 0.219786248258979 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 255738 PCSK9 proprotein convertase subtilisin/kexin type 9 umls:C1956346 Coronary Artery Disease 0.219786248258979 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10758 TRAF3IP2 TRAF3 interacting protein 2 umls:C0033860 Psoriasis 0.219786248258979 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 154 ADRB2 adrenoceptor beta 2, surface umls:C0151744 Myocardial Ischemia 0.219757284192866 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 642 BLMH bleomycin hydrolase umls:C0002395 Alzheimer Disease 0.219757284192866 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0018671 Head and Neck Neoplasms 0.219757284192866 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7341 SUMO1 small ubiquitin-like modifier 1 umls:C0008925 Cleft Palate 0.219757284192866 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3240 HP haptoglobin umls:C0024530 Malaria 0.219737217300381 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10468 FST follistatin umls:C0032460 Polycystic Ovary Syndrome 0.219708253234267 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3198 HOXA1 homeobox A1 umls:C0004352 Autistic Disorder 0.219708253234267 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10046 MAMLD1 mastermind-like domain containing 1 umls:C0848558 Hypospadias 0.219708253234267 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0007222 Cardiovascular Diseases 0.219708253234267 11 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 335 APOA1 apolipoprotein A-I umls:C0038454 Stroke 0.219679289168154 5 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2067 ERCC1 excision repair cross-complementation group 1 umls:C0027651 Neoplasms 0.219679289168154 5 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2162 F13A1 coagulation factor XIII, A1 polypeptide umls:C0042487 Venous Thrombosis 0.219679289168154 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0008924 Cleft Lip 0.219679289168154 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0040034 Thrombocytopenia 0.219679289168154 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0030297 Pancreatic Neoplasms 0.219679289168154 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7516 XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2 umls:C1458155 Breast Neoplasms 0.219679289168154 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.219639155383185 34 Biomarker BeFree, CTD_human 3195 TLX1 T-cell leukemia homeobox 1 umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.219639155383185 35 Biomarker BeFree, CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0029456 Osteoporosis 0.219630258209556 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3791 KDR kinase insert domain receptor umls:C1458155 Breast Neoplasms 0.219630258209556 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3952 LEP leptin umls:C0015695 Fatty Liver 0.219630258209556 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0017636 Glioblastoma 0.219581227250957 17 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3381 IBSP integrin-binding sialoprotein umls:C0027627 Neoplasm Metastasis 0.219581227250957 17 Biomarker BeFree, CTD_human, LHGDN 5604 MAP2K1 mitogen-activated protein kinase kinase 1 umls:C0025202 Melanoma 0.219581227250957 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C2239176 Carcinoma, Hepatocellular 0.219581227250957 19 Biomarker BeFree, CTD_human, LHGDN 5443 POMC proopiomelanocortin umls:C0010481 Cushing Syndrome 0.219581227250957 20 Biomarker BeFree, CTD_human, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0006118 Brain Neoplasms 0.219581227250957 18 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0007137 Carcinoma, Squamous Cell 0.219552263184844 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0007137 Carcinoma, Squamous Cell 0.219552263184844 11 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0027627 Neoplasm Metastasis 0.219552263184844 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 683 BST1 bone marrow stromal cell antigen 1 umls:C0030567 Parkinson Disease 0.219551774647484 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1512 CTSH cathepsin H umls:C0011854 Diabetes Mellitus, Type 1 0.219551774647484 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0030567 Parkinson Disease 0.219551774647484 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0031117 Peripheral Nervous System Diseases 0.219551774647484 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0042109 Urticaria 0.219551774647484 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0023895 Liver Diseases 0.219551774647484 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.219551774647484 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0020443 Hypercholesterolemia 0.219551774647484 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 25865 PRKD2 protein kinase D2 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.219551774647484 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7157 TP53 tumor protein p53 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.219551774647484 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0027947 Neutropenia 0.219502743688886 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 111 ADCY5 adenylate cyclase 5 umls:C0011860 Diabetes Mellitus, Type 2 0.219502743688886 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9049 AIP aryl hydrocarbon receptor interacting protein umls:C0001430 Adenoma 0.219502743688886 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 595 CCND1 cyclin D1 umls:C0032927 Precancerous Conditions 0.219502743688886 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10144 FAM13A family with sequence similarity 13, member A umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.219502743688886 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 355 FAS Fas cell surface death receptor umls:C0023467 Leukemia, Myeloid, Acute 0.219502743688886 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10718 NRG3 neuregulin 3 umls:C0036341 Schizophrenia 0.219502743688886 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 323 APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 umls:C0002395 Alzheimer Disease 0.219473779622772 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 434 ASIP agouti signaling protein umls:C0007117 Carcinoma, Basal Cell 0.219473779622772 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1071 CETP cholesteryl ester transfer protein, plasma umls:C0020557 Hypertriglyceridemia 0.219473779622772 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0021368 Inflammation 0.219473779622772 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1583 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 umls:C0014170 Endometrial Neoplasms 0.219473779622772 5 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0007873 Uterine Cervical Neoplasms 0.219473779622772 7 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3565 IL4 interleukin 4 umls:C0020517 Hypersensitivity 0.219473779622772 6 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3741 KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5 umls:C0004238 Atrial Fibrillation 0.219473779622772 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0000832 Abruptio Placentae 0.219473779622772 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 27328 PCDH11X protocadherin 11 X-linked umls:C0002395 Alzheimer Disease 0.219473779622772 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6607 SMN2 survival of motor neuron 2, centromeric umls:C0700595 Spinal Muscular Atrophies of Childhood 0.219473779622772 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7341 SUMO1 small ubiquitin-like modifier 1 umls:C0008924 Cleft Lip 0.219473779622772 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0026766 Multiple Organ Failure 0.219473779622772 6 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0037286 Skin Neoplasms 0.219473779622772 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 9210 BMP15 bone morphogenetic protein 15 umls:C0032460 Polycystic Ovary Syndrome 0.219424748664174 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5027 P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.219424748664174 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 161742 SPRED1 sprouty-related, EVH1 domain containing 1 umls:C0027831 Neurofibromatosis 1 0.219424748664174 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1232 CCR3 chemokine (C-C motif) receptor 3 umls:C0019693 HIV Infections 0.219404681771689 27 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.219404681771689 26 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7015 TERT telomerase reverse transcriptase umls:C0025202 Melanoma 0.219404681771689 26 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0009324 Colitis, Ulcerative 0.219375717705576 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0005586 Bipolar Disorder 0.219375717705576 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5961 PRPH2 peripherin 2 (retinal degeneration, slow) umls:C0035334 Retinitis Pigmentosa 0.219367475509937 27 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 5376 PMP22 peripheral myelin protein 22 umls:C0031117 Peripheral Nervous System Diseases 0.219355650813091 35 Biomarker BeFree, CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0007222 Cardiovascular Diseases 0.219346753639462 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2584 GALK1 galactokinase 1 umls:C0016952 Galactosemias 0.219346753639462 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3371 TNC tenascin C umls:C0004096 Asthma 0.219346753639462 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0149925 Small Cell Lung Carcinoma 0.219326686746977 24 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0007134 Carcinoma, Renal Cell 0.219326686746977 25 Biomarker BeFree, CTD_human, LHGDN 27232 GNMT glycine N-methyltransferase umls:C2239176 Carcinoma, Hepatocellular 0.219297722680864 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6720 SREBF1 sterol regulatory element binding transcription factor 1 umls:C0015695 Fatty Liver 0.219297722680864 18 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3315 HSPB1 heat shock 27kDa protein 1 umls:C2239176 Carcinoma, Hepatocellular 0.21926875861475 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3855 KRT7 keratin 7, type II umls:C0007134 Carcinoma, Renal Cell 0.21926875861475 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5744 PTHLH parathyroid hormone-like hormone umls:C0033578 Prostatic Neoplasms 0.21926875861475 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0023055 Laryngeal Neoplasms 0.21926827007739 4 Biomarker, GeneticVariation CTD_human, GAD 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0026640 Mouth Neoplasms 0.21926827007739 5 Biomarker, GeneticVariation CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0033687 Proteinuria 0.21926827007739 9 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD 338 APOB apolipoprotein B umls:C0020557 Hypertriglyceridemia 0.21926827007739 4 Biomarker, GeneticVariation CTD_human, GAD 1557 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 umls:C0040053 Thrombosis 0.21926827007739 4 Biomarker, GeneticVariation CTD_human, GAD 1813 DRD2 dopamine receptor D2 umls:C0043094 Weight Gain 0.21926827007739 4 Biomarker, GeneticVariation CTD_human, GAD 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0024305 Lymphoma, Non-Hodgkin 0.21926827007739 4 Biomarker, GeneticVariation CTD_human, GAD 2243 FGA fibrinogen alpha chain umls:C0040053 Thrombosis 0.21926827007739 5 Biomarker, GeneticVariation CTD_human, GAD 2539 G6PD glucose-6-phosphate dehydrogenase umls:C0019054 Hemolysis 0.21926827007739 6 Biomarker, GeneticVariation CTD_human, GAD 26330 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic umls:C0002395 Alzheimer Disease 0.21926827007739 4 Biomarker, GeneticVariation CTD_human, GAD 2646 GCKR glucokinase (hexokinase 4) regulator umls:C0020557 Hypertriglyceridemia 0.21926827007739 4 Biomarker, GeneticVariation CTD_human, GAD 2784 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 umls:C0043094 Weight Gain 0.21926827007739 4 Biomarker, GeneticVariation CTD_human, GAD 2944 GSTM1 glutathione S-transferase mu 1 umls:C0037274 Skin Diseases 0.21926827007739 4 Biomarker, GeneticVariation CTD_human, GAD 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0020517 Hypersensitivity 0.21926827007739 5 Biomarker, GeneticVariation CTD_human, GAD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0027726 Nephrotic Syndrome 0.21926827007739 5 Biomarker, GeneticVariation CTD_human, GAD 3596 IL13 interleukin 13 umls:C0020523 Hypersensitivity, Immediate 0.21926827007739 6 Biomarker, GeneticVariation CTD_human, GAD 3569 IL6 interleukin 6 umls:C0006434 Burns 0.21926827007739 6 Biomarker, GeneticVariation CTD_human, GAD 3569 IL6 interleukin 6 umls:C0022876 Obstetric Labor, Premature 0.21926827007739 6 Biomarker, GeneticVariation CTD_human, GAD 3569 IL6 interleukin 6 umls:C0030567 Parkinson Disease 0.21926827007739 5 Biomarker, GeneticVariation CTD_human, GAD 3976 LIF leukemia inhibitory factor umls:C0021361 Infertility, Female 0.21926827007739 5 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0006434 Burns 0.21926827007739 5 Biomarker, GeneticVariation CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0878544 Cardiomyopathies 0.219219239118792 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 348 APOE apolipoprotein E umls:C0036572 Seizures 0.219219239118792 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 847 CAT catalase umls:C0011854 Diabetes Mellitus, Type 1 0.219219239118792 10 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 2147 F2 coagulation factor II (thrombin) umls:C0023890 Liver Cirrhosis 0.219219239118792 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3458 IFNG interferon, gamma umls:C0004153 Atherosclerosis 0.219219239118792 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10318 TNIP1 TNFAIP3 interacting protein 1 umls:C0024141 Lupus Erythematosus, Systemic 0.219219239118792 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3949 LDLR low density lipoprotein receptor umls:C0020473 Hyperlipidemias 0.219170208160194 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10752 CHL1 cell adhesion molecule L1-like umls:C0036341 Schizophrenia 0.21914124409408 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C2239176 Carcinoma, Hepatocellular 0.21914124409408 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1585 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 umls:C0020428 Hyperaldosteronism 0.21914124409408 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3135 HLA-G major histocompatibility complex, class I, G umls:C0004096 Asthma 0.21914124409408 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3240 HP haptoglobin umls:C0020538 Hypertension 0.21914124409408 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5771 PTPN2 protein tyrosine phosphatase, non-receptor type 2 umls:C0009324 Colitis, Ulcerative 0.21914124409408 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7226 TRPM2 transient receptor potential cation channel, subfamily M, member 2 umls:C0005586 Bipolar Disorder 0.21914124409408 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0003873 Arthritis, Rheumatoid 0.219121177201596 25 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2056 EPO erythropoietin umls:C0026986 Myelodysplastic Syndromes 0.219121177201596 25 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 23418 CRB1 crumbs family member 1, photoreceptor morphogenesis associated umls:C0035334 Retinitis Pigmentosa 0.219092213135482 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 29851 ICOS inducible T-cell co-stimulator umls:C0009447 Common Variable Immunodeficiency 0.219092213135482 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0349639 Leukemia, Myelomonocytic, Juvenile 0.219092213135482 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8030 CCDC6 coiled-coil domain containing 6 umls:C0238463 Thyroid cancer, papillary 0.219072146242997 32 Biomarker, GeneticVariation BeFree, CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0027819 Neuroblastoma 0.219072146242997 33 Biomarker BeFree, CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0002395 Alzheimer Disease 0.219063249069368 10 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 64220 STRA6 stimulated by retinoic acid 6 umls:C0003119 Anophthalmos 0.219063249069368 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0025202 Melanoma 0.219063249069368 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4613 MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog umls:C0025149 Medulloblastoma 0.219043182176884 24 Biomarker BeFree, CTD_human, LHGDN 5111 PCNA proliferating cell nuclear antigen umls:C0001418 Adenocarcinoma 0.219043182176884 25 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.21901421811077 17 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1410 CRYAB crystallin, alpha B umls:C0086543 Cataract 0.21901421811077 16 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3909 LAMA3 laminin, alpha 3 umls:C0079301 Epidermolysis Bullosa, Junctional 0.21901421811077 15 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0003486 Aortic Aneurysm 0.21901421811077 17 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6285 S100B S100 calcium binding protein B umls:C0013080 Down Syndrome 0.21901421811077 16 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C0037889 Spherocytosis, Hereditary 0.21901421811077 16 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1474 CST6 cystatin E/M umls:C1458155 Breast Neoplasms 0.218985254044656 8 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 1630 DCC DCC netrin 1 receptor umls:C0009404 Colorectal Neoplasms 0.218985254044656 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2118 ETV4 ets variant 4 umls:C1458155 Breast Neoplasms 0.218985254044656 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3458 IFNG interferon, gamma umls:C1458155 Breast Neoplasms 0.218985254044656 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3897 L1CAM L1 cell adhesion molecule umls:C0019569 Hirschsprung Disease 0.218985254044656 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4288 MKI67 marker of proliferation Ki-67 umls:C0001418 Adenocarcinoma 0.218985254044656 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4879 NPPB natriuretic peptide B umls:C0007222 Cardiovascular Diseases 0.218985254044656 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 65217 PCDH15 protocadherin-related 15 umls:C0271097 Usher Syndromes 0.218985254044656 9 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3899 AFF3 AF4/FMR2 family, member 3 umls:C0003873 Arthritis, Rheumatoid 0.218935734548698 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 580 BARD1 BRCA1 associated RING domain 1 umls:C0027819 Neuroblastoma 0.218935734548698 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0011860 Diabetes Mellitus, Type 2 0.218935734548698 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7056 THBD thrombomodulin umls:C0398623 Thrombophilia 0.218935734548698 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 80332 ADAM33 ADAM metallopeptidase domain 33 umls:C0085129 Bronchial Hyperreactivity 0.2188867035901 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2194 FASN fatty acid synthase umls:C0028754 Obesity 0.2188867035901 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD 467 ATF3 activating transcription factor 3 umls:C0848558 Hypospadias 0.218857739523986 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0948089 Acute Coronary Syndrome 0.218857739523986 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10318 TNIP1 TNFAIP3 interacting protein 1 umls:C0033860 Psoriasis 0.218857739523986 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6247 RS1 retinoschisin 1 umls:C0271091 Juvenile X-Linked Retinoschisis 0.218809363543379 50 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 28444 IGHV3-21 immunoglobulin heavy variable 3-21 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.218808708565388 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4397 MS multiple sclerosis umls:C0026769 Multiple Sclerosis 0.218788641672904 31 Biomarker BeFree, CTD_human 7276 TTR transthyretin umls:C0740340 Amyloidosis, Familial 0.218788641672904 33 Biomarker, GeneticVariation BeFree, CTD_human 9685 CLINT1 clathrin interactor 1 umls:C0036341 Schizophrenia 0.218779744499275 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0004943 Behcet Syndrome 0.218779744499275 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0025202 Melanoma 0.218779744499275 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0011849 Diabetes Mellitus 0.218779744499275 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0007222 Cardiovascular Diseases 0.218779744499275 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0038358 Stomach Ulcer 0.218779744499275 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 79870 BAALC brain and acute leukemia, cytoplasmic umls:C0023467 Leukemia, Myeloid, Acute 0.21875967760679 24 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0027819 Neuroblastoma 0.21875967760679 23 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3458 IFNG interferon, gamma umls:C0010346 Crohn Disease 0.218730713540676 16 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3753 KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 umls:C0022387 Jervell-Lange Nielsen Syndrome 0.218730713540676 16 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0023903 Liver Neoplasms 0.218730713540676 17 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5816 PVALB parvalbumin umls:C0036341 Schizophrenia 0.218730713540676 15 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4089 SMAD4 SMAD family member 4 umls:C0235974 Pancreatic Carcinoma 0.218711301626182 66 Biomarker, GeneticVariation BeFree, CLINVAR 26154 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 umls:C0079154 Ichthyosis, Lamellar 0.218701749474563 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 301 ANXA1 annexin A1 umls:C0007137 Carcinoma, Squamous Cell 0.218701749474563 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 9076 CLDN1 claudin 1 umls:C1458155 Breast Neoplasms 0.218701749474563 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2114 ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2 umls:C1458155 Breast Neoplasms 0.218701749474563 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2346 FOLH1 folate hydrolase (prostate-specific membrane antigen) 1 umls:C0033578 Prostatic Neoplasms 0.218701749474563 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0024121 Lung Neoplasms 0.218701749474563 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0024121 Lung Neoplasms 0.218701749474563 8 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6696 SPP1 secreted phosphoprotein 1 umls:C0025500 Mesothelioma 0.218701749474563 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0007097 Carcinoma 0.218701749474563 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0033578 Prostatic Neoplasms 0.218701749474563 11 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 348 APOE apolipoprotein E umls:C0033860 Psoriasis 0.218652229978605 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1813 DRD2 dopamine receptor D2 umls:C0019337 Heroin Dependence 0.218652229978605 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 115352 FCRL3 Fc receptor-like 3 umls:C0018213 Graves Disease 0.218652229978605 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3929 LBP lipopolysaccharide binding protein umls:C0243026 Sepsis 0.218652229978605 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 26191 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) umls:C0021390 Inflammatory Bowel Diseases 0.218652229978605 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0023891 Liver Cirrhosis, Alcoholic 0.218652229978605 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7298 TYMS thymidylate synthetase umls:C0024305 Lymphoma, Non-Hodgkin 0.218652229978605 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0011615 Dermatitis, Atopic 0.218603199020006 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7038 TG thyroglobulin umls:C0920350 Thyroiditis, Autoimmune 0.218603199020006 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 796 CALCA calcitonin-related polypeptide alpha umls:C0020538 Hypertension 0.218574234953893 9 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 26047 CNTNAP2 contactin associated protein-like 2 umls:C0014544 Epilepsy 0.218574234953893 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1380 CR2 complement component (3d/Epstein Barr virus) receptor 2 umls:C0024141 Lupus Erythematosus, Systemic 0.218574234953893 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C0270853 Myoclonic Epilepsy, Juvenile 0.218574234953893 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3596 IL13 interleukin 13 umls:C0085129 Bronchial Hyperreactivity 0.218574234953893 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4763 NF1 neurofibromin 1 umls:C0023467 Leukemia, Myeloid, Acute 0.218574234953893 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4852 NPY neuropeptide Y umls:C0007222 Cardiovascular Diseases 0.218574234953893 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 30062 RAX retina and anterior neural fold homeobox umls:C0003119 Anophthalmos 0.218574234953893 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0021390 Inflammatory Bowel Diseases 0.218574234953893 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7298 TYMS thymidylate synthetase umls:C2239176 Carcinoma, Hepatocellular 0.218574234953893 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3440 IFNA2 interferon, alpha 2 umls:C0019163 Hepatitis B 0.218525203995295 16 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 10481 HOXB13 homeobox B13 umls:C0376358 Malignant neoplasm of prostate 0.21850513710281 30 Biomarker, GeneticVariation BeFree, UNIPROT 595 CCND1 cyclin D1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21850513710281 31 Biomarker BeFree, CTD_human 2688 GH1 growth hormone 1 umls:C0028754 Obesity 0.21850513710281 31 Biomarker BeFree, CTD_human 23600 AMACR alpha-methylacyl-CoA racemase umls:C0001430 Adenoma 0.218496239929181 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0023903 Liver Neoplasms 0.218496239929181 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3953 LEPR leptin receptor umls:C0011849 Diabetes Mellitus 0.218496239929181 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0919267 Ovarian Neoplasms 0.218496239929181 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0038358 Stomach Ulcer 0.218496239929181 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0004153 Atherosclerosis 0.218496239929181 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0007137 Carcinoma, Squamous Cell 0.218496239929181 9 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0027819 Neuroblastoma 0.218476173036696 22 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 260431 COPD Pulmonary disease, chronic obstructive, severe early-onset umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.218476173036696 22 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3569 IL6 interleukin 6 umls:C0009319 Colitis 0.218476173036696 22 Biomarker BeFree, CTD_human, LHGDN 4005 LMO2 LIM domain only 2 (rhombotin-like 1) umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.218476173036696 22 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 57526 PCDH19 protocadherin 19 umls:C0014544 Epilepsy 0.218476173036696 21 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5879 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) umls:C0027627 Neoplasm Metastasis 0.218476173036696 22 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0007137 Carcinoma, Squamous Cell 0.218447208970583 14 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0206180 Lymphoma, Large-Cell, Anaplastic 0.218447208970583 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 177 AGER advanced glycosylation end product-specific receptor umls:C0011875 Diabetic Angiopathies 0.218418244904469 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1012 CDH13 cadherin 13 umls:C2239176 Carcinoma, Hepatocellular 0.218418244904469 5 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 1414 CRYBB1 crystallin, beta B1 umls:C0086543 Cataract 0.218418244904469 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0025500 Mesothelioma 0.218418244904469 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5655 KLK10 kallikrein-related peptidase 10 umls:C1458155 Breast Neoplasms 0.218418244904469 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0007137 Carcinoma, Squamous Cell 0.218418244904469 7 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 4853 NOTCH2 notch 2 umls:C1458155 Breast Neoplasms 0.218418244904469 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5069 PAPPA pregnancy-associated plasma protein A, pappalysin 1 umls:C0948089 Acute Coronary Syndrome 0.218418244904469 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0005695 Urinary Bladder Neoplasms 0.218418244904469 6 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C0024530 Malaria 0.218418244904469 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C1458155 Breast Neoplasms 0.218418244904469 7 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 8542 APOL1 apolipoprotein L, 1 umls:C0036341 Schizophrenia 0.218368725408511 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 640 BLK BLK proto-oncogene, Src family tyrosine kinase umls:C0003873 Arthritis, Rheumatoid 0.218368725408511 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2215 FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) umls:C0024143 Lupus Nephritis 0.218368725408511 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0017661 Glomerulonephritis, IGA 0.218368725408511 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5771 PTPN2 protein tyrosine phosphatase, non-receptor type 2 umls:C0003873 Arthritis, Rheumatoid 0.218368725408511 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7096 TLR1 toll-like receptor 1 umls:C0023343 Leprosy 0.218368725408511 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2532 ACKR1 atypical chemokine receptor 1 (Duffy blood group) umls:C0024530 Malaria 0.218319694449913 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 595 CCND1 cyclin D1 umls:C0023418 Leukemia 0.218319694449913 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD 100 ADA adenosine deaminase umls:C0004352 Autistic Disorder 0.218290730383799 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 57194 ATP10A ATPase, class V, type 10A umls:C0004352 Autistic Disorder 0.218290730383799 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0004096 Asthma 0.218290730383799 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0014175 Endometriosis 0.218290730383799 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4689 NCF4 neutrophil cytosolic factor 4, 40kDa umls:C0010346 Crohn Disease 0.218290730383799 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0017638 Glioma 0.218270663491315 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3952 LEP leptin umls:C0028756 Obesity, Morbid 0.218270663491315 23 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C0001623 Adrenal Insufficiency 0.218270663491315 22 Biomarker, GeneticVariation BeFree, CTD_human, GAD 326 AIRE autoimmune regulator umls:C0006840 Candidiasis 0.218241699425201 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0032019 Pituitary Neoplasms 0.218241699425201 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 80271 ITPKC inositol-trisphosphate 3-kinase C umls:C0026691 Mucocutaneous Lymph Node Syndrome 0.218241699425201 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2538 G6PC glucose-6-phosphatase, catalytic subunit umls:C2919796 Hepatorenal form of glycogen storage disease 0.218221632532716 29 Biomarker BeFree, CTD_human 2122 MECOM MDS1 and EVI1 complex locus umls:C0023470 Leukemia, Myeloid 0.218221632532716 30 Biomarker, GeneticVariation BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0919267 Ovarian Neoplasms 0.218212735359087 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0027651 Neoplasms 0.218212735359087 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2056 EPO erythropoietin umls:C0022661 Kidney Failure, Chronic 0.218192668466603 21 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 8074 FGF23 fibroblast growth factor 23 umls:C0085681 Hyperphosphatemia 0.218192668466603 20 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 212 ALAS2 5'-aminolevulinate synthase 2 umls:C0002896 Anemia, Sideroblastic 0.218163704400489 15 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4599 MX1 MX dynamin-like GTPase 1 umls:C0021400 Influenza, Human 0.218163704400489 14 Biomarker BeFree, CTD_human, LHGDN 5657 PRTN3 proteinase 3 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.218163704400489 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 9997 SCO2 SCO2 cytochrome c oxidase assembly protein umls:C0007194 Cardiomyopathy, Hypertrophic 0.218163704400489 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5897 RAG2 recombination activating gene 2 umls:C0085110 Severe Combined Immunodeficiency 0.21815546220485 25 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0003873 Arthritis, Rheumatoid 0.218134740334375 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 177 AGER advanced glycosylation end product-specific receptor umls:C0003873 Arthritis, Rheumatoid 0.218134740334375 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 374 AREG amphiregulin umls:C1458155 Breast Neoplasms 0.218134740334375 6 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 572 BAD BCL2-associated agonist of cell death umls:C0033578 Prostatic Neoplasms 0.218134740334375 6 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 79444 BIRC7 baculoviral IAP repeat containing 7 umls:C0007134 Carcinoma, Renal Cell 0.218134740334375 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0024121 Lung Neoplasms 0.218134740334375 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0005695 Urinary Bladder Neoplasms 0.218134740334375 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 10395 DLC1 DLC1 Rho GTPase activating protein umls:C0027651 Neoplasms 0.218134740334375 6 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 2876 GPX1 glutathione peroxidase 1 umls:C0024121 Lung Neoplasms 0.218134740334375 6 Biomarker BeFree, CTD_human, LHGDN 3678 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) umls:C0007097 Carcinoma 0.218134740334375 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0919267 Ovarian Neoplasms 0.218134740334375 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4854 NOTCH3 notch 3 umls:C1458155 Breast Neoplasms 0.218134740334375 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5328 PLAU plasminogen activator, urokinase umls:C0004096 Asthma 0.218134740334375 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7001 PRDX2 peroxiredoxin 2 umls:C0013080 Down Syndrome 0.218134740334375 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8842 PROM1 prominin 1 umls:C0009375 Colonic Neoplasms 0.218134740334375 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C1458155 Breast Neoplasms 0.218134740334375 6 Biomarker BeFree, CTD_human, LHGDN 7372 UMPS uridine monophosphate synthetase umls:C0009404 Colorectal Neoplasms 0.218134740334375 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 28 ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) umls:C1956346 Coronary Artery Disease 0.218085220838417 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1813 DRD2 dopamine receptor D2 umls:C0020514 Hyperprolactinemia 0.218085220838417 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2212 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) umls:C0009324 Colitis, Ulcerative 0.218085220838417 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3113 HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 umls:C0524909 Hepatitis B, Chronic 0.218085220838417 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0149931 Migraine Disorders 0.218085220838417 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5126 PCSK2 proprotein convertase subtilisin/kexin type 2 umls:C0011860 Diabetes Mellitus, Type 2 0.218085220838417 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8929 PHOX2B paired-like homeobox 2b umls:C0010346 Crohn Disease 0.218085220838417 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 56606 SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 umls:C0740394 Hyperuricemia 0.218085220838417 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C2239176 Carcinoma, Hepatocellular 0.218085220838417 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 11262 SP140 SP140 nuclear body protein umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.218085220838417 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 348 APOE apolipoprotein E umls:C0002726 Amyloidosis 0.218036189879819 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6462 SHBG sex hormone-binding globulin umls:C0011860 Diabetes Mellitus, Type 2 0.218036189879819 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0017658 Glomerulonephritis 0.218036189879819 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7490 WT1 Wilms tumor 1 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.218036189879819 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 324 APC adenomatous polyposis coli umls:C0034885 Rectal Neoplasms 0.218007225813705 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0036341 Schizophrenia 0.218007225813705 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1401 CRP C-reactive protein, pentraxin-related umls:C0022661 Kidney Failure, Chronic 0.218007225813705 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0162566 Porphyria Cutanea Tarda 0.218007225813705 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0008925 Cleft Palate 0.218007225813705 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5604 MAP2K1 mitogen-activated protein kinase kinase 1 umls:C0028326 Noonan Syndrome 0.218007225813705 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5789 PTPRD protein tyrosine phosphatase, receptor type, D umls:C0035258 Restless Legs Syndrome 0.218007225813705 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6530 SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2 umls:C0020538 Hypertension 0.218007225813705 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6715 SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) umls:C0032460 Polycystic Ovary Syndrome 0.218007225813705 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 176 ACAN aggrecan umls:C0003873 Arthritis, Rheumatoid 0.217958194855107 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3480 IGF1R insulin-like growth factor 1 receptor umls:C2239176 Carcinoma, Hepatocellular 0.217958194855107 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7253 TSHR thyroid stimulating hormone receptor umls:C0040156 Thyrotoxicosis 0.217958194855107 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0268312 Cholestasis, progressive familial intrahepatic 1 0.217938127962623 29 Biomarker BeFree, CTD_human 2784 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 umls:C0085580 Hypertension, Essential 0.217938127962623 28 Biomarker, GeneticVariation BeFree, CTD_human 1906 EDN1 endothelin 1 umls:C0038454 Stroke 0.217929230788994 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2100 ESR2 estrogen receptor 2 (ER beta) umls:C1956346 Coronary Artery Disease 0.217929230788994 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2272 FHIT fragile histidine triad umls:C0033578 Prostatic Neoplasms 0.217929230788994 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2778 GNAS GNAS complex locus umls:C0016065 Fibrous Dysplasia, Polyostotic 0.217929230788994 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 25894 PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 umls:C0087012 Spinocerebellar Ataxias 0.217929230788994 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6401 SELE selectin E umls:C0020443 Hypercholesterolemia 0.217929230788994 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6402 SELL selectin L umls:C0017661 Glomerulonephritis, IGA 0.217929230788994 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 551 AVP arginine vasopressin umls:C0011848 Diabetes Insipidus 0.217909163896509 22 Biomarker BeFree, CTD_human, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0017636 Glioblastoma 0.217909163896509 21 Biomarker BeFree, CTD_human, LHGDN 7248 TSC1 tuberous sclerosis 1 umls:C0007137 Carcinoma, Squamous Cell 0.217909163896509 19 Biomarker BeFree, CTD_human, LHGDN 1420 CRYGC crystallin, gamma C umls:C0086543 Cataract 0.217880199830395 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2033 EP300 E1A binding protein p300 umls:C0035934 Rubinstein-Taybi Syndrome 0.217880199830395 10 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2178 FANCE Fanconi anemia, complementation group E umls:C0015625 Fanconi Anemia 0.217880199830395 10 Biomarker BeFree, CTD_human, LHGDN 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C2239176 Carcinoma, Hepatocellular 0.217880199830395 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0023418 Leukemia 0.217880199830395 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0009404 Colorectal Neoplasms 0.217851235764282 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0024121 Lung Neoplasms 0.217851235764282 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 153090 DAB2IP DAB2 interacting protein umls:C0033578 Prostatic Neoplasms 0.217851235764282 3 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 1718 DHCR24 24-dehydrocholesterol reductase umls:C0002395 Alzheimer Disease 0.217851235764282 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2068 ERCC2 excision repair cross-complementation group 2 umls:C0005695 Urinary Bladder Neoplasms 0.217851235764282 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0023890 Liver Cirrhosis 0.217851235764282 5 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 2272 FHIT fragile histidine triad umls:C0038356 Stomach Neoplasms 0.217851235764282 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 50943 FOXP3 forkhead box P3 umls:C1458155 Breast Neoplasms 0.217851235764282 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 umls:C0006663 Calcinosis 0.217851235764282 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2932 GSK3B glycogen synthase kinase 3 beta umls:C0033578 Prostatic Neoplasms 0.217851235764282 5 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0033578 Prostatic Neoplasms 0.217851235764282 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8000 PSCA prostate stem cell antigen umls:C0033578 Prostatic Neoplasms 0.217851235764282 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 27173 SLC39A1 solute carrier family 39 (zinc transporter), member 1 umls:C0033578 Prostatic Neoplasms 0.217851235764282 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 25800 SLC39A6 solute carrier family 39 (zinc transporter), member 6 umls:C1458155 Breast Neoplasms 0.217851235764282 5 Biomarker BeFree, CTD_human, LHGDN 6926 TBX3 T-box 3 umls:C1458155 Breast Neoplasms 0.217851235764282 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7366 UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15 umls:C0033578 Prostatic Neoplasms 0.217851235764282 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 463 ZFHX3 zinc finger homeobox 3 umls:C0033578 Prostatic Neoplasms 0.217851235764282 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 84159 ARID5B AT rich interactive domain 5B (MRF1-like) umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.217801716268324 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 868 CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase umls:C0026769 Multiple Sclerosis 0.217801716268324 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0037199 Sinusitis 0.217801716268324 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0001418 Adenocarcinoma 0.217801716268324 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2876 GPX1 glutathione peroxidase 1 umls:C0011860 Diabetes Mellitus, Type 2 0.217801716268324 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3676 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) umls:C0004352 Autistic Disorder 0.217801716268324 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 22808 MRAS muscle RAS oncogene homolog umls:C1956346 Coronary Artery Disease 0.217801716268324 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1824 DSC2 desmocollin 2 umls:C0349788 Arrhythmogenic Right Ventricular Dysplasia 0.217793474072685 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 93986 FOXP2 forkhead box P2 umls:C0004352 Autistic Disorder 0.217752685309725 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 64135 IFIH1 interferon induced with helicase C domain 1 umls:C0024141 Lupus Erythematosus, Systemic 0.217752685309725 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3570 IL6R interleukin 6 receptor umls:C0003873 Arthritis, Rheumatoid 0.217752685309725 14 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 197 AHSG alpha-2-HS-glycoprotein umls:C0006663 Calcinosis 0.217723721243612 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 10109 ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa umls:C0009324 Colitis, Ulcerative 0.217723721243612 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0011615 Dermatitis, Atopic 0.217723721243612 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9993 DGCR2 DiGeorge syndrome critical region gene 2 umls:C0036341 Schizophrenia 0.217723721243612 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 51752 ERAP1 endoplasmic reticulum aminopeptidase 1 umls:C0020538 Hypertension 0.217723721243612 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2074 ERCC6 excision repair cross-complementation group 6 umls:C0242383 Macular Degeneration 0.217723721243612 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0030305 Pancreatitis 0.217723721243612 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0017661 Glomerulonephritis, IGA 0.217723721243612 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0030567 Parkinson Disease 0.217723721243612 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4193 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase umls:C0033578 Prostatic Neoplasms 0.217723721243612 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4255 MGMT O-6-methylguanine-DNA methyltransferase umls:C0023418 Leukemia 0.217723721243612 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4953 ODC1 ornithine decarboxylase 1 umls:C0009404 Colorectal Neoplasms 0.217723721243612 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5621 PRNP prion protein umls:C0019202 Hepatolenticular Degeneration 0.217723721243612 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C0243026 Sepsis 0.217723721243612 7 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 6403 SELP selectin P (granule membrane protein 140kDa, antigen CD62) umls:C0020538 Hypertension 0.217723721243612 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8626 TP63 tumor protein p63 umls:C0008924 Cleft Lip 0.217723721243612 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3667 IRS1 insulin receptor substrate 1 umls:C0011849 Diabetes Mellitus 0.217703654351127 20 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4598 MVK mevalonate kinase umls:C0342731 Mevalonate Kinase Deficiency 0.217703654351127 23 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7015 TERT telomerase reverse transcriptase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.217703654351127 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0027708 Wilms Tumor 0.217674690285014 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0022116 Ischemia 0.217674690285014 12 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 115650 TNFRSF13C tumor necrosis factor receptor superfamily, member 13C umls:C0009447 Common Variable Immunodeficiency 0.217674690285014 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0025202 Melanoma 0.217654623392529 28 Biomarker, Therapeutic BeFree, CTD_human 7248 TSC1 tuberous sclerosis 1 umls:C2239176 Carcinoma, Hepatocellular 0.217654623392529 28 Biomarker BeFree, CTD_human 472 ATM ATM serine/threonine kinase umls:C0033578 Prostatic Neoplasms 0.2176457262189 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4843 NOS2 nitric oxide synthase 2, inducible umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.2176457262189 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0038356 Stomach Neoplasms 0.2176457262189 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0027726 Nephrotic Syndrome 0.2176457262189 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0023903 Liver Neoplasms 0.217625659326415 20 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3481 IGF2 insulin-like growth factor 2 umls:C0206686 Adrenocortical Carcinoma 0.217625659326415 20 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3481 IGF2 insulin-like growth factor 2 umls:C0206624 Hepatoblastoma 0.217625659326415 19 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5663 PSEN1 presenilin 1 umls:C0236642 Pick Disease of the Brain 0.217625659326415 19 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0023467 Leukemia, Myeloid, Acute 0.217625659326415 20 Biomarker BeFree, CTD_human, LHGDN 1727 CYB5R3 cytochrome b5 reductase 3 umls:C0025637 Methemoglobinemia 0.217596695260302 12 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3958 LGALS3 lectin, galactoside-binding, soluble, 3 umls:C0025202 Melanoma 0.217596695260302 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5256 PHKA2 phosphorylase kinase, alpha 2 (liver) umls:C0017919 Glycogen Storage Disease 0.217596695260302 10 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0015625 Fanconi Anemia 0.217596695260302 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7424 VEGFC vascular endothelial growth factor C umls:C0025202 Melanoma 0.217596695260302 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8754 ADAM9 ADAM metallopeptidase domain 9 umls:C0033578 Prostatic Neoplasms 0.217567731194188 3 AlteredExpression, Biomarker CTD_human, LHGDN 8313 AXIN2 axin 2 umls:C0009404 Colorectal Neoplasms 0.217567731194188 3 Biomarker, GeneticVariation, PostTranslationalModification CTD_human, LHGDN 8412 BCAR3 breast cancer anti-estrogen resistance 3 umls:C1458155 Breast Neoplasms 0.217567731194188 4 AlteredExpression, Biomarker CTD_human, LHGDN 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0919267 Ovarian Neoplasms 0.217567731194188 7 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN 2065 ERBB3 erb-b2 receptor tyrosine kinase 3 umls:C0024121 Lung Neoplasms 0.217567731194188 3 AlteredExpression, Biomarker CTD_human, LHGDN 2074 ERCC6 excision repair cross-complementation group 6 umls:C0024121 Lung Neoplasms 0.217567731194188 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 2264 FGFR4 fibroblast growth factor receptor 4 umls:C0033578 Prostatic Neoplasms 0.217567731194188 3 Biomarker, GeneticVariation CTD_human, LHGDN 1647 GADD45A growth arrest and DNA-damage-inducible, alpha umls:C0030297 Pancreatic Neoplasms 0.217567731194188 4 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN 2623 GATA1 GATA binding protein 1 (globin transcription factor 1) umls:C0040034 Thrombocytopenia 0.217567731194188 4 Biomarker, GeneticVariation CTD_human, LHGDN 3397 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein umls:C0027651 Neoplasms 0.217567731194188 4 AlteredExpression, Biomarker CTD_human, LHGDN 3488 IGFBP5 insulin-like growth factor binding protein 5 umls:C1458155 Breast Neoplasms 0.217567731194188 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 3667 IRS1 insulin receptor substrate 1 umls:C0033578 Prostatic Neoplasms 0.217567731194188 3 Biomarker, GeneticVariation CTD_human, LHGDN 182 JAG1 jagged 1 umls:C1458155 Breast Neoplasms 0.217567731194188 4 AlteredExpression, Biomarker CTD_human, LHGDN 25818 KLK5 kallikrein-related peptidase 5 umls:C0033578 Prostatic Neoplasms 0.217567731194188 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 3875 KRT18 keratin 18, type I umls:C1458155 Breast Neoplasms 0.217567731194188 4 AlteredExpression, Biomarker CTD_human, LHGDN 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0038356 Stomach Neoplasms 0.217567731194188 4 AlteredExpression, Biomarker, PostTranslationalModification CTD_human, LHGDN 8829 NRP1 neuropilin 1 umls:C0030297 Pancreatic Neoplasms 0.217567731194188 3 AlteredExpression, Biomarker CTD_human, LHGDN 5329 PLAUR plasminogen activator, urokinase receptor umls:C0033578 Prostatic Neoplasms 0.217567731194188 4 AlteredExpression, Biomarker CTD_human, LHGDN 5621 PRNP prion protein umls:C0038356 Stomach Neoplasms 0.217567731194188 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 8671 SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 umls:C0001126 Acidosis, Renal Tubular 0.217567731194188 3 Biomarker, GeneticVariation CTD_human, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0027746 Nerve Degeneration 0.217567731194188 5 Biomarker, GeneticVariation CTD_human, LHGDN 10381 TUBB3 tubulin, beta 3 class III umls:C0919267 Ovarian Neoplasms 0.217567731194188 3 Biomarker, PostTranslationalModification CTD_human, LHGDN 114904 C1QTNF6 C1q and tumor necrosis factor related protein 6 umls:C0011854 Diabetes Mellitus, Type 1 0.21751821169823 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1581 CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 umls:C0020443 Hypercholesterolemia 0.21751821169823 6 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0023890 Liver Cirrhosis 0.21751821169823 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3106 HLA-B major histocompatibility complex, class I, B umls:C0026896 Myasthenia Gravis 0.21751821169823 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0041466 Typhoid Fever 0.21751821169823 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3458 IFNG interferon, gamma umls:C0035235 Respiratory Syncytial Virus Infections 0.21751821169823 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 246778 IL27 interleukin 27 umls:C0011854 Diabetes Mellitus, Type 1 0.21751821169823 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0029172 Oral Submucous Fibrosis 0.21751821169823 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0023470 Leukemia, Myeloid 0.21751821169823 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8613 PPAP2B phosphatidic acid phosphatase type 2B umls:C1956346 Coronary Artery Disease 0.21751821169823 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0022661 Kidney Failure, Chronic 0.21751821169823 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6470 SHMT1 serine hydroxymethyltransferase 1 (soluble) umls:C0024305 Lymphoma, Non-Hodgkin 0.21751821169823 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0035242 Respiratory Tract Diseases 0.21751821169823 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3574 IL7 interleukin 7 umls:C0026769 Multiple Sclerosis 0.217469180739632 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3953 LEPR leptin receptor umls:C0028756 Obesity, Morbid 0.217469180739632 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4023 LPL lipoprotein lipase umls:C0020445 Hyperlipoproteinemia Type II 0.217469180739632 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 135138 PACRG PARK2 co-regulated umls:C0023343 Leprosy 0.217469180739632 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0023343 Leprosy 0.217469180739632 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 80339 PNPLA3 patatin-like phospholipase domain containing 3 umls:C0023896 Liver Diseases, Alcoholic 0.217469180739632 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54664 TMEM106B transmembrane protein 106B umls:C0751072 Frontotemporal Lobar Degeneration 0.217469180739632 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 154 ADRB2 adrenoceptor beta 2, surface umls:C0004352 Autistic Disorder 0.217440216673518 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 11200 CHEK2 checkpoint kinase 2 umls:C0024121 Lung Neoplasms 0.217440216673518 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1584 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 umls:C0020428 Hyperaldosteronism 0.217440216673518 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2558 GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 umls:C0004352 Autistic Disorder 0.217440216673518 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4049 LTA lymphotoxin alpha umls:C0003872 Arthritis, Psoriatic 0.217440216673518 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0025202 Melanoma 0.21739118571492 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 875 CBS cystathionine-beta-synthase umls:C0007222 Cardiovascular Diseases 0.21739118571492 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6352 CCL5 chemokine (C-C motif) ligand 5 umls:C0011615 Dermatitis, Atopic 0.21739118571492 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4763 NF1 neurofibromin 1 umls:C0031511 Pheochromocytoma 0.21739118571492 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5521 PPP2R2B protein phosphatase 2, regulatory subunit B, beta umls:C0087012 Spinocerebellar Ataxias 0.21739118571492 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6218 RPS17 ribosomal protein S17 umls:C1260899 Anemia, Diamond-Blackfan 0.21739118571492 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.217371118822435 26 Biomarker, GeneticVariation BeFree, CTD_human 11093 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 umls:C2717961 Thrombotic Microangiopathies 0.217371118822435 28 Biomarker BeFree, CTD_human 25978 CHMP2B charged multivesicular body protein 2B umls:C0338451 Frontotemporal Dementia 0.217371118822435 26 Biomarker BeFree, CTD_human 3827 KNG1 kininogen 1 umls:C0019243 Angioedemas, Hereditary 0.217371118822435 27 Biomarker BeFree, CTD_human 8013 NR4A3 nuclear receptor subfamily 4, group A, member 3 umls:C1275278 Chondrosarcoma, Extraskeletal Myxoid 0.217371118822435 26 Biomarker, GeneticVariation BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C1168401 Carcinoma, squamous cell of head and neck 0.217371118822435 27 Biomarker BeFree, CTD_human 6663 SOX10 SRY (sex determining region Y)-box 10 umls:C1848519 Waardenburg syndrome, type 4 0.217371118822435 26 Biomarker, GeneticVariation BeFree, CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0009404 Colorectal Neoplasms 0.217362221648806 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 846 CASR calcium-sensing receptor umls:C0020598 Hypocalcemia 0.217362221648806 5 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0919267 Ovarian Neoplasms 0.217362221648806 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 54205 CYCS cytochrome c, somatic umls:C0040034 Thrombocytopenia 0.217362221648806 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0024121 Lung Neoplasms 0.217362221648806 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C1458155 Breast Neoplasms 0.217362221648806 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0038356 Stomach Neoplasms 0.217362221648806 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3486 IGFBP3 insulin-like growth factor binding protein 3 umls:C0009404 Colorectal Neoplasms 0.217362221648806 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 167691 LCA5 Leber congenital amaurosis 5 umls:C0456909 Blindness 0.217362221648806 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5327 PLAT plasminogen activator, tissue umls:C0040053 Thrombosis 0.217362221648806 7 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 5627 PROS1 protein S (alpha) umls:C0600433 Activated Protein C Resistance 0.217362221648806 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5627 PROS1 protein S (alpha) umls:C0040053 Thrombosis 0.217362221648806 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0030297 Pancreatic Neoplasms 0.217362221648806 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6403 SELP selectin P (granule membrane protein 140kDa, antigen CD62) umls:C0040053 Thrombosis 0.217362221648806 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0020507 Hyperplasia 0.217362221648806 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0033578 Prostatic Neoplasms 0.217362221648806 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0033578 Prostatic Neoplasms 0.217362221648806 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7163 TPD52 tumor protein D52 umls:C0033578 Prostatic Neoplasms 0.217362221648806 3 AlteredExpression, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 7298 TYMS thymidylate synthetase umls:C0024121 Lung Neoplasms 0.217362221648806 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7372 UMPS uridine monophosphate synthetase umls:C0038356 Stomach Neoplasms 0.217362221648806 6 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7507 XPA xeroderma pigmentosum, complementation group A umls:C0007117 Carcinoma, Basal Cell 0.217362221648806 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1535 CYBA cytochrome b-245, alpha polypeptide umls:C0018203 Granulomatous Disease, Chronic 0.217342154756322 18 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2321 FLT1 fms-related tyrosine kinase 1 umls:C0027627 Neoplasm Metastasis 0.217342154756322 19 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0022116 Ischemia 0.217342154756322 18 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0023418 Leukemia 0.217342154756322 18 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 1123 CHN1 chimerin 1 umls:C0013261 Duane Retraction Syndrome 0.217313190690208 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0243026 Sepsis 0.217313190690208 11 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C1458155 Breast Neoplasms 0.217313190690208 14 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3725 JUN jun proto-oncogene umls:C2239176 Carcinoma, Hepatocellular 0.217313190690208 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5328 PLAU plasminogen activator, urokinase umls:C0001418 Adenocarcinoma 0.217313190690208 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7274 TTPA tocopherol (alpha) transfer protein umls:C0042875 Vitamin E Deficiency 0.217313190690208 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6834 SURF1 surfeit 1 umls:C0268237 Cytochrome-c Oxidase Deficiency 0.217284881602085 35 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 64240 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 umls:C0010068 Coronary Disease 0.217234707128136 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 55289 ACOXL acyl-CoA oxidase-like umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.217234707128136 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 875 CBS cystathionine-beta-synthase umls:C0024305 Lymphoma, Non-Hodgkin 0.217234707128136 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1071 CETP cholesteryl ester transfer protein, plasma umls:C0020476 Hyperlipoproteinemias 0.217234707128136 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1577 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 umls:C0022658 Kidney Diseases 0.217234707128136 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 169792 GLIS3 GLIS family zinc finger 3 umls:C0011854 Diabetes Mellitus, Type 1 0.217234707128136 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3107 HLA-C major histocompatibility complex, class I, C umls:C0524909 Hepatitis B, Chronic 0.217234707128136 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4254 KITLG KIT ligand umls:C0039590 Testicular Neoplasms 0.217234707128136 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3912 LAMB1 laminin, beta 1 umls:C0009324 Colitis, Ulcerative 0.217234707128136 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4507 MTAP methylthioadenosine phosphorylase umls:C0027960 Nevus 0.217234707128136 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0027947 Neutropenia 0.217234707128136 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0038587 Substance Withdrawal Syndrome 0.217234707128136 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0004153 Atherosclerosis 0.217234707128136 6 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0023891 Liver Cirrhosis, Alcoholic 0.217234707128136 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0026640 Mouth Neoplasms 0.217234707128136 6 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0029458 Osteoporosis, Postmenopausal 0.217234707128136 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0014859 Esophageal Neoplasms 0.217234707128136 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0034069 Pulmonary Fibrosis 0.217185676169538 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9429 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) umls:C0009404 Colorectal Neoplasms 0.217156712103424 5 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1636 ACE angiotensin I converting enzyme umls:C2937358 Cerebral Hemorrhage 0.217156712103424 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0024121 Lung Neoplasms 0.217156712103424 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0024121 Lung Neoplasms 0.217156712103424 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0009404 Colorectal Neoplasms 0.217156712103424 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0019080 Hemorrhage 0.217156712103424 6 AlteredExpression, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0033687 Proteinuria 0.217156712103424 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3269 HRH1 histamine receptor H1 umls:C0036341 Schizophrenia 0.217156712103424 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C0018781 Hearing Loss, Noise-Induced 0.217156712103424 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 9132 KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4 umls:C0018781 Hearing Loss, Noise-Induced 0.217156712103424 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3952 LEP leptin umls:C0009375 Colonic Neoplasms 0.217156712103424 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0021368 Inflammation 0.217156712103424 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5888 RAD51 RAD51 recombinase umls:C0018671 Head and Neck Neoplasms 0.217156712103424 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6948 TCN2 transcobalamin II umls:C0008924 Cleft Lip 0.217156712103424 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0005138 Berylliosis 0.217156712103424 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 54106 TLR9 toll-like receptor 9 umls:C0021368 Inflammation 0.217156712103424 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0948480 Coronary Restenosis 0.217156712103424 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7299 TYR tyrosinase umls:C0007117 Carcinoma, Basal Cell 0.217156712103424 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0007138 Carcinoma, Transitional Cell 0.21713664521094 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2641 GCG glucagon umls:C0028754 Obesity 0.21713664521094 19 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3439 IFNA1 interferon, alpha 1 umls:C0023890 Liver Cirrhosis 0.21713664521094 19 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 5376 PMP22 peripheral myelin protein 22 umls:C0027888 Hereditary Sensory and Motor Neuropathy 0.21713664521094 19 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 337 APOA4 apolipoprotein A-IV umls:C0004153 Atherosclerosis 0.217107681144826 10 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 26047 CNTNAP2 contactin associated protein-like 2 umls:C0036341 Schizophrenia 0.217107681144826 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1956 EGFR epidermal growth factor receptor umls:C0014175 Endometriosis 0.217107681144826 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2746 GLUD1 glutamate dehydrogenase 1 umls:C0020459 Hyperinsulinism 0.217107681144826 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0036341 Schizophrenia 0.217107681144826 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0017638 Glioma 0.217107681144826 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0001430 Adenoma 0.217087614252342 27 Biomarker BeFree, CTD_human 1392 CRH corticotropin releasing hormone umls:C0003469 Anxiety Disorders 0.217087614252342 36 Biomarker BeFree, CTD_human 1956 EGFR epidermal growth factor receptor umls:C0279626 Esophageal Squamous Cell Carcinoma 0.217087614252342 26 Biomarker, GeneticVariation BeFree, CTD_human 2776 GNAQ guanine nucleotide binding protein (G protein), q polypeptide umls:C0220633 Uveal melanoma 0.217087614252342 25 Biomarker, GeneticVariation BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0027627 Neoplasm Metastasis 0.217087614252342 26 Biomarker, Therapeutic BeFree, CTD_human 4852 NPY neuropeptide Y umls:C0003469 Anxiety Disorders 0.217087614252342 26 Biomarker, Therapeutic BeFree, CTD_human 324 APC adenomatous polyposis coli umls:C0206677 Adenomatous Polyps 0.217058650186228 17 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7957 EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) umls:C0751778 Myoclonic Epilepsies, Progressive 0.217058650186228 17 Biomarker BeFree, CTD_human, LHGDN 57697 FANCM Fanconi anemia, complementation group M umls:C0015625 Fanconi Anemia 0.217058650186228 16 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3853 KRT6A keratin 6A, type II umls:C0265334 Pachyonychia Congenita 0.217058650186228 17 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5191 PEX7 peroxisomal biogenesis factor 7 umls:C0282529 Chondrodysplasia Punctata, Rhizomelic 0.217058650186228 16 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0026986 Myelodysplastic Syndromes 0.217029686120114 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0002395 Alzheimer Disease 0.217029686120114 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1508 CTSB cathepsin B umls:C0017636 Glioblastoma 0.217029686120114 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0029463 Osteosarcoma 0.217029686120114 10 Biomarker BeFree, CTD_human, LHGDN 6324 SCN1B sodium channel, voltage gated, type I beta subunit umls:C0009952 Seizures, Febrile 0.217029686120114 9 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2810 SFN stratifin umls:C0007137 Carcinoma, Squamous Cell 0.217029686120114 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6535 SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 umls:C1136249 Mental Retardation, X-Linked 0.217029686120114 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6752 SSTR2 somatostatin receptor 2 umls:C0206754 Neuroendocrine Tumors 0.217029686120114 9 Biomarker BeFree, CTD_human, LHGDN 7020 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) umls:C1458155 Breast Neoplasms 0.217029686120114 9 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 338 APOB apolipoprotein B umls:C1862596 Hypobetalipoproteinemia, Familial 0.21701027420562 60 Biomarker, GeneticVariation BeFree, CLINVAR 28 ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) umls:C0030297 Pancreatic Neoplasms 0.216951202558043 3 Biomarker, GeneticVariation CTD_human, GAD 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0031347 Pharyngeal Neoplasms 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0007273 Carotid Artery Diseases 0.216951202558043 3 Biomarker, GeneticVariation CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0020544 Hypertension, Renal 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 328 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 umls:C0038356 Stomach Neoplasms 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 367 AR androgen receptor umls:C0021655 Insulin Resistance 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 57412 AS3MT arsenite methyltransferase umls:C0311375 Arsenic Poisoning 0.216951202558043 4 GeneticVariation, Therapeutic CTD_human, GAD 434 ASIP agouti signaling protein umls:C0037286 Skin Neoplasms 0.216951202558043 3 Biomarker, GeneticVariation CTD_human, GAD 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0021368 Inflammation 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0035455 Rhinitis 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C0013182 Drug Hypersensitivity 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C0860207 Drug-Induced Liver Injury 0.216951202558043 5 Biomarker, GeneticVariation CTD_human, GAD 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0024667 Mammary Neoplasms, Animal 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0042487 Venous Thrombosis 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 2580 GAK cyclin G associated kinase umls:C0030567 Parkinson Disease 0.216951202558043 3 Biomarker, GeneticVariation CTD_human, GAD 2693 GHSR growth hormone secretagogue receptor umls:C0001973 Alcoholism 0.216951202558043 4 GeneticVariation, Therapeutic CTD_human, GAD 2876 GPX1 glutathione peroxidase 1 umls:C0020538 Hypertension 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0860207 Drug-Induced Liver Injury 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 3586 IL10 interleukin 10 umls:C0013182 Drug Hypersensitivity 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 3586 IL10 interleukin 10 umls:C0026766 Multiple Organ Failure 0.216951202558043 4 GeneticVariation, Therapeutic CTD_human, GAD 3592 IL12A interleukin 12A umls:C0023892 Liver Cirrhosis, Biliary 0.216951202558043 3 Biomarker, GeneticVariation CTD_human, GAD 3596 IL13 interleukin 13 umls:C0020517 Hypersensitivity 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 3557 IL1RN interleukin 1 receptor antagonist umls:C0333641 Atrophy 0.216951202558043 4 GeneticVariation, Therapeutic CTD_human, GAD 3565 IL4 interleukin 4 umls:C0020523 Hypersensitivity, Immediate 0.216951202558043 5 Biomarker, GeneticVariation CTD_human, GAD 3791 KDR kinase insert domain receptor umls:C0027686 Neovascularization, Pathologic 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0027643 Neoplasm Recurrence, Local 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0948480 Coronary Restenosis 0.216951202558043 3 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0021361 Infertility, Female 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0040034 Thrombocytopenia 0.216951202558043 3 Biomarker, GeneticVariation CTD_human, GAD 5327 PLAT plasminogen activator, tissue umls:C1861172 Venous Thromboembolism 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 5588 PRKCQ protein kinase C, theta umls:C0011854 Diabetes Mellitus, Type 1 0.216951202558043 3 Biomarker, GeneticVariation CTD_human, GAD 375611 SLC26A5 solute carrier family 26 (anion exchanger), member 5 umls:C0011053 Deafness 0.216951202558043 4 Biomarker, GeneticVariation CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0020517 Hypersensitivity 0.216951202558043 5 Biomarker, GeneticVariation CTD_human, GAD 7299 TYR tyrosinase umls:C0037286 Skin Neoplasms 0.216951202558043 3 Biomarker, GeneticVariation CTD_human, GAD 1394 CRHR1 corticotropin releasing hormone receptor 1 umls:C1269683 Depressive Disorder, Major 0.216902171599444 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1401 CRP C-reactive protein, pentraxin-related umls:C0018799 Heart Diseases 0.216902171599444 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C1956346 Coronary Artery Disease 0.216902171599444 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2200 FBN1 fibrillin 1 umls:C0162872 Aortic Aneurysm, Thoracic 0.216902171599444 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0036341 Schizophrenia 0.216902171599444 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3704 ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) umls:C0002878 Anemia, Hemolytic 0.216902171599444 9 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0020473 Hyperlipidemias 0.216902171599444 11 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 1893 ECM1 extracellular matrix protein 1 umls:C0009324 Colitis, Ulcerative 0.216824176574733 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 201163 FLCN folliculin umls:C0032326 Pneumothorax 0.216824176574733 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0271051 Macular Edema 0.216824176574733 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7472 WNT2 wingless-type MMTV integration site family member 2 umls:C0004352 Autistic Disorder 0.216824176574733 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0268318 Intrahepatic Cholestasis of Pregnancy 0.216804109682248 24 Biomarker, GeneticVariation BeFree, CTD_human 6103 RPGR retinitis pigmentosa GTPase regulator umls:C0035304 Retinal Degeneration 0.216775145616134 17 Biomarker BeFree, CTD_human, LHGDN 146059 CDAN1 codanin 1 umls:C0002876 Anemia, Dyserythropoietic, Congenital 0.216746181550021 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1021 CDK6 cyclin-dependent kinase 6 umls:C0025149 Medulloblastoma 0.216746181550021 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 10987 COPS5 COP9 signalosome subunit 5 umls:C2239176 Carcinoma, Hepatocellular 0.216746181550021 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2260 FGFR1 fibroblast growth factor receptor 1 umls:C1458155 Breast Neoplasms 0.216746181550021 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4771 NF2 neurofibromin 2 (merlin) umls:C0025500 Mesothelioma 0.216746181550021 14 Biomarker BeFree, CTD_human, LHGDN 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C1458155 Breast Neoplasms 0.216746181550021 9 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 8301 PICALM phosphatidylinositol binding clathrin assembly protein umls:C0023467 Leukemia, Myeloid, Acute 0.216746181550021 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 57190 SEPN1 selenoprotein N, 1 umls:C0026850 Muscular Dystrophies 0.216746181550021 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 10347 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 umls:C0002395 Alzheimer Disease 0.216618667029351 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 384 ARG2 arginase 2 umls:C0004096 Asthma 0.216618667029351 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 929 CD14 CD14 molecule umls:C0023890 Liver Cirrhosis 0.216618667029351 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3667 IRS1 insulin receptor substrate 1 umls:C1956346 Coronary Artery Disease 0.216618667029351 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0011860 Diabetes Mellitus, Type 2 0.216618667029351 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4868 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) umls:C0022658 Kidney Diseases 0.216618667029351 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5144 PDE4D phosphodiesterase 4D, cAMP-specific umls:C0004096 Asthma 0.216618667029351 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 80339 PNPLA3 patatin-like phospholipase domain containing 3 umls:C0023891 Liver Cirrhosis, Alcoholic 0.216618667029351 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0003165 Anthracosis 0.216618667029351 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7369 UMOD uromodulin umls:C0020538 Hypertension 0.216618667029351 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7422 VEGFA vascular endothelial growth factor A umls:C0018801 Heart Failure 0.216618667029351 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1184 CLCN5 chloride channel, voltage-sensitive 5 umls:C0878681 Dent Disease 0.216569636070753 19 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0014859 Esophageal Neoplasms 0.216569636070753 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2110 ETFDH electron-transferring-flavoprotein dehydrogenase umls:C0268596 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 0.216569636070753 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0206698 Cholangiocarcinoma 0.216569636070753 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4128 MAOA monoamine oxidase A umls:C0003431 Antisocial Personality Disorder 0.216569636070753 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7249 TSC2 tuberous sclerosis 2 umls:C0014544 Epilepsy 0.216569636070753 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD 799 CALCR calcitonin receptor umls:C0029456 Osteoporosis 0.216540672004639 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0020456 Hyperglycemia 0.216540672004639 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5083 PAX9 paired box 9 umls:C0399352 Anodontia 0.216540672004639 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7021 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) umls:C0013274 Ductus Arteriosus, Patent 0.216540672004639 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0003486 Aortic Aneurysm 0.216540672004639 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 100 ADA adenosine deaminase umls:C0392607 Severe combined immunodeficiency due to adenosine deaminase deficiency 0.216520605112154 23 Biomarker BeFree, CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0019202 Hepatolenticular Degeneration 0.216520605112154 24 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.216520605112154 25 Biomarker BeFree, CTD_human 8626 TP63 tumor protein p63 umls:C0406704 Ectrodactyly-cleft lip/palate syndrome 0.216520605112154 24 Biomarker, GeneticVariation BeFree, CTD_human 958 CD40 CD40 molecule, TNF receptor superfamily member 5 umls:C0272236 Hyper-IgM Immunodeficiency Syndrome 0.216491641046041 14 Biomarker BeFree, CTD_human, LHGDN 959 CD40LG CD40 ligand umls:C0004364 Autoimmune Diseases 0.216491641046041 16 Biomarker BeFree, CTD_human, LHGDN 2078 ERG v-ets avian erythroblastosis virus E26 oncogene homolog umls:C0023418 Leukemia 0.216491641046041 15 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3567 IL5 interleukin 5 umls:C0011615 Dermatitis, Atopic 0.216491641046041 15 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3918 LAMC2 laminin, gamma 2 umls:C0079301 Epidermolysis Bullosa, Junctional 0.216491641046041 15 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3934 LCN2 lipocalin 2 umls:C0027627 Neoplasm Metastasis 0.216491641046041 16 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4204 MECP2 methyl CpG binding protein 2 umls:C0162635 Angelman Syndrome 0.216491641046041 14 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5015 OTX2 orthodenticle homeobox 2 umls:C0025149 Medulloblastoma 0.216491641046041 15 Biomarker BeFree, CTD_human, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0007134 Carcinoma, Renal Cell 0.216491641046041 15 Biomarker BeFree, CTD_human, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0271694 Lipodystrophy, Familial Partial 0.216491641046041 15 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 23411 SIRT1 sirtuin 1 umls:C0524851 Neurodegenerative Diseases 0.216491641046041 15 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 6591 SNAI2 snail family zinc finger 2 umls:C0027627 Neoplasm Metastasis 0.216491641046041 16 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0262584 Carcinoma, Small Cell 0.216491641046041 15 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 196 AHR aryl hydrocarbon receptor umls:C1458155 Breast Neoplasms 0.216462676979927 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8788 DLK1 delta-like 1 homolog (Drosophila) umls:C0026986 Myelodysplastic Syndromes 0.216462676979927 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2625 GATA3 GATA binding protein 3 umls:C0007097 Carcinoma 0.216462676979927 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 23095 KIF1B kinesin family member 1B umls:C0027819 Neuroblastoma 0.216462676979927 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0023895 Liver Diseases 0.216462676979927 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 374291 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) umls:C0023264 Leigh Disease 0.216462676979927 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5745 PTH1R parathyroid hormone 1 receptor umls:C0014084 Enchondromatosis 0.216462676979927 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C0002878 Anemia, Hemolytic 0.216462676979927 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3371 TNC tenascin C umls:C0025202 Melanoma 0.216462676979927 8 Biomarker BeFree, CTD_human, LHGDN 64240 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 umls:C0004153 Atherosclerosis 0.216335162459257 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1636 ACE angiotensin I converting enzyme umls:C1565489 Renal Insufficiency 0.216335162459257 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1378 CR1 complement component (3b/4b) receptor 1 (Knops blood group) umls:C0024530 Malaria 0.216335162459257 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1490 CTGF connective tissue growth factor umls:C0023890 Liver Cirrhosis 0.216335162459257 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2524 FUT2 fucosyltransferase 2 (secretor status included) umls:C0010346 Crohn Disease 0.216335162459257 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0036202 Sarcoidosis 0.216335162459257 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3172 HNF4A hepatocyte nuclear factor 4, alpha umls:C0009324 Colitis, Ulcerative 0.216335162459257 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3949 LDLR low density lipoprotein receptor umls:C0242339 Dyslipidemias 0.216335162459257 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4056 LTC4S leukotriene C4 synthase umls:C1319853 Asthma, Aspirin-Induced 0.216335162459257 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 4938 OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa umls:C0011854 Diabetes Mellitus, Type 1 0.216335162459257 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0524620 Metabolic Syndrome X 0.216335162459257 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6326 SCN2A sodium channel, voltage gated, type II alpha subunit umls:C0009952 Seizures, Febrile 0.216335162459257 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0023283 Leishmaniasis, Cutaneous 0.216335162459257 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2334 AFF2 AF4/FMR2 family, member 2 umls:C0016667 Fragile X Syndrome 0.216286131500659 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0162871 Aortic Aneurysm, Abdominal 0.216286131500659 18 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7490 WT1 Wilms tumor 1 umls:C0206115 WAGR Syndrome 0.216286131500659 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0023892 Liver Cirrhosis, Biliary 0.216257167434545 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 27185 DISC1 disrupted in schizophrenia 1 umls:C0236792 Asperger Syndrome 0.216257167434545 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4317 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) umls:C0025202 Melanoma 0.216257167434545 7 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C0080178 Spinal Dysraphism 0.216257167434545 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0037286 Skin Neoplasms 0.216257167434545 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4891 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 umls:C0018995 Hemochromatosis 0.216257167434545 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 324 APC adenomatous polyposis coli umls:C0699791 STOMACH CARCINOMA 0.216237100542061 22 Biomarker, GeneticVariation BeFree, UNIPROT 196 AHR aryl hydrocarbon receptor umls:C0023903 Liver Neoplasms 0.216237100542061 23 Biomarker, GeneticVariation BeFree, CTD_human 26291 FGF21 fibroblast growth factor 21 umls:C0028754 Obesity 0.216237100542061 23 Biomarker, Therapeutic BeFree, CTD_human 2272 FHIT fragile histidine triad umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.216237100542061 23 Biomarker BeFree, CTD_human 3762 KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5 umls:C0001430 Adenoma 0.216237100542061 24 Biomarker BeFree, CTD_human 4193 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.216237100542061 23 Biomarker, GeneticVariation BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0279628 Adenocarcinoma Of Esophagus 0.216237100542061 23 Biomarker BeFree, CTD_human 613 BCR breakpoint cluster region umls:C0027022 Myeloproliferative Disorders 0.216208136475947 14 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0007137 Carcinoma, Squamous Cell 0.216208136475947 14 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4128 MAOA monoamine oxidase A umls:C0004936 Mental Disorders 0.216208136475947 15 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4583 MUC2 mucin 2, oligomeric mucus/gel-forming umls:C0001418 Adenocarcinoma 0.216208136475947 15 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5241 PGR progesterone receptor umls:C0025286 Meningioma 0.216208136475947 16 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2182 ACSL4 acyl-CoA synthetase long-chain family member 4 umls:C2239176 Carcinoma, Hepatocellular 0.216179172409833 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0007134 Carcinoma, Renal Cell 0.216179172409833 7 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 3491 CYR61 cysteine-rich, angiogenic inducer, 61 umls:C2239176 Carcinoma, Hepatocellular 0.216179172409833 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1719 DHFR dihydrofolate reductase umls:C0029463 Osteosarcoma 0.216179172409833 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2162 F13A1 coagulation factor XIII, A1 polypeptide umls:C0015530 Factor XIII Deficiency 0.216179172409833 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2778 GNAS GNAS complex locus umls:C0034013 Puberty, Precocious 0.216179172409833 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2984 GUCY2C guanylate cyclase 2C umls:C0009404 Colorectal Neoplasms 0.216179172409833 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3294 HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 umls:C0014175 Endometriosis 0.216179172409833 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3315 HSPB1 heat shock 27kDa protein 1 umls:C0007137 Carcinoma, Squamous Cell 0.216179172409833 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3458 IFNG interferon, gamma umls:C0023281 Leishmaniasis 0.216179172409833 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3934 LCN2 lipocalin 2 umls:C0022658 Kidney Diseases 0.216179172409833 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 23592 LEMD3 LEM domain containing 3 umls:C0025239 Melorheostosis 0.216179172409833 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 23236 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) umls:C0026986 Myelodysplastic Syndromes 0.216179172409833 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5925 RB1 retinoblastoma 1 umls:C0005695 Urinary Bladder Neoplasms 0.216179172409833 6 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0007097 Carcinoma 0.216179172409833 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7273 TTN titin umls:C0751336 Distal Myopathies 0.216179172409833 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1829 DSG2 desmoglein 2 umls:C0349788 Arrhythmogenic Right Ventricular Dysplasia 0.216121410718236 21 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 118429 ANTXR2 anthrax toxin receptor 2 umls:C0038013 Spondylitis, Ankylosing 0.216051657889163 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 311 ANXA11 annexin A11 umls:C0036202 Sarcoidosis 0.216051657889163 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9732 DOCK4 dedicator of cytokinesis 4 umls:C0004352 Autistic Disorder 0.216051657889163 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2147 F2 coagulation factor II (thrombin) umls:C0007785 Cerebral Infarction 0.216051657889163 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2739 GLO1 glyoxalase I umls:C0004352 Autistic Disorder 0.216051657889163 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3240 HP haptoglobin umls:C0002895 Anemia, Sickle Cell 0.216051657889163 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0151744 Myocardial Ischemia 0.216051657889163 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7804 LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor umls:C0027051 Myocardial Infarction 0.216051657889163 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4792 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha umls:C0019829 Hodgkin Disease 0.216051657889163 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4889 NPY5R neuropeptide Y receptor Y5 umls:C0028754 Obesity 0.216051657889163 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5327 PLAT plasminogen activator, tissue umls:C0020538 Hypertension 0.216051657889163 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10111 RAD50 RAD50 homolog (S. cerevisiae) umls:C0004096 Asthma 0.216051657889163 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5981 RFC1 replication factor C (activator 1) 1, 145kDa umls:C0029463 Osteosarcoma 0.216051657889163 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10758 TRAF3IP2 TRAF3 interacting protein 2 umls:C0003872 Arthritis, Psoriatic 0.216051657889163 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23025 UNC13A unc-13 homolog A (C. elegans) umls:C0002736 Amyotrophic Lateral Sclerosis 0.216051657889163 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0002895 Anemia, Sickle Cell 0.216051657889163 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 472 ATM ATM serine/threonine kinase umls:C0025202 Melanoma 0.216002626930565 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3565 IL4 interleukin 4 umls:C0004364 Autoimmune Diseases 0.216002626930565 17 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0022116 Ischemia 0.216002626930565 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.216002626930565 15 Biomarker, GeneticVariation BeFree, CTD_human, GAD 30835 CD209 CD209 molecule umls:C0041327 Tuberculosis, Pulmonary 0.215973662864452 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 55748 CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) umls:C0011881 Diabetic Nephropathies 0.215973662864452 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1280 COL2A1 collagen, type II, alpha 1 umls:C0035305 Retinal Detachment 0.215973662864452 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3586 IL10 interleukin 10 umls:C0017658 Glomerulonephritis 0.215973662864452 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3856 KRT8 keratin 8, type II umls:C0023890 Liver Cirrhosis 0.215973662864452 6 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 9947 MAGEC1 melanoma antigen family C1 umls:C0025202 Melanoma 0.215973662864452 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0026764 Multiple Myeloma 0.215973662864452 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5327 PLAT plasminogen activator, tissue umls:C0004153 Atherosclerosis 0.215973662864452 7 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 5428 POLG polymerase (DNA directed), gamma umls:C0036572 Seizures 0.215973662864452 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5447 POR P450 (cytochrome) oxidoreductase umls:C0001627 Adrenal Hyperplasia, Congenital 0.215973662864452 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0023290 Leishmaniasis, Visceral 0.215973662864452 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 23495 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B umls:C0026764 Multiple Myeloma 0.215973662864452 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0004698 Balkan Nephropathy 0.215973662864452 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 123016 TTC8 tetratricopeptide repeat domain 8 umls:C0752166 Bardet-Biedl Syndrome 0.215973662864452 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 79001 VKORC1 vitamin K epoxide reductase complex, subunit 1 umls:C0010068 Coronary Disease 0.215973662864452 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0042510 Ventricular Fibrillation 0.215965420668813 18 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 2010 EMD emerin umls:C0751337 Scapuloperoneal muscular dystrophy 0.215953595971967 23 Biomarker, GeneticVariation BeFree, UNIPROT 859 CAV3 caveolin 3 umls:C1853698 Rippling muscle disease 0.215953595971967 21 Biomarker, GeneticVariation BeFree, UNIPROT 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.215953595971967 21 Biomarker, GeneticVariation BeFree, CTD_human 859 CAV3 caveolin 3 umls:C1838254 Rippling muscle disease, 1 0.215953595971967 21 Biomarker, GeneticVariation BeFree, CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C2931822 Nasopharyngeal carcinoma 0.215953595971967 22 Biomarker BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0349639 Leukemia, Myelomonocytic, Juvenile 0.215953595971967 21 Biomarker BeFree, CTD_human 2562 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 umls:C0162635 Angelman Syndrome 0.215953595971967 22 Biomarker BeFree, CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0035412 Rhabdomyosarcoma 0.215953595971967 21 Biomarker, GeneticVariation BeFree, CTD_human 4143 MAT1A methionine adenosyltransferase I, alpha umls:C2239176 Carcinoma, Hepatocellular 0.215953595971967 22 Biomarker BeFree, CTD_human 4830 NME1 NME/NM23 nucleoside diphosphate kinase 1 umls:C0027819 Neuroblastoma 0.215953595971967 21 Biomarker, GeneticVariation BeFree, CTD_human 23451 SF3B1 splicing factor 3b, subunit 1, 155kDa umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.215953595971967 21 Biomarker BeFree, CTD_human 6598 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 umls:C1335929 Schwannomatosis 0.215953595971967 22 Biomarker BeFree, CTD_human 121278 TPH2 tryptophan hydroxylase 2 umls:C0011581 Depressive Disorder 0.215953595971967 22 Biomarker, GeneticVariation BeFree, CTD_human 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C0037274 Skin Diseases 0.215924631905853 13 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0023890 Liver Cirrhosis 0.215924631905853 14 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3569 IL6 interleukin 6 umls:C0206698 Cholangiocarcinoma 0.215924631905853 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0023448 Leukemia, Lymphoid 0.215924631905853 14 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 407035 MIR31 microRNA 31 umls:C0027627 Neoplasm Metastasis 0.215924631905853 14 Biomarker BeFree, CTD_human, LHGDN 5320 PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) umls:C0004153 Atherosclerosis 0.215924631905853 14 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 9021 SOCS3 suppressor of cytokine signaling 3 umls:C2239176 Carcinoma, Hepatocellular 0.215924631905853 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 796 CALCA calcitonin-related polypeptide alpha umls:C0033578 Prostatic Neoplasms 0.21589566783974 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8837 CFLAR CASP8 and FADD-like apoptosis regulator umls:C0019829 Hodgkin Disease 0.21589566783974 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1471 CST3 cystatin C umls:C0022658 Kidney Diseases 0.21589566783974 7 Biomarker BeFree, CTD_human, LHGDN 7430 EZR ezrin umls:C0007097 Carcinoma 0.21589566783974 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 55294 FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase umls:C0017638 Glioma 0.21589566783974 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0007137 Carcinoma, Squamous Cell 0.21589566783974 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 22914 KLRK1 killer cell lectin-like receptor subfamily K, member 1 umls:C0025202 Melanoma 0.21589566783974 6 Biomarker BeFree, CTD_human, LHGDN 3858 KRT10 keratin 10, type I umls:C0007137 Carcinoma, Squamous Cell 0.21589566783974 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3856 KRT8 keratin 8, type II umls:C1458155 Breast Neoplasms 0.21589566783974 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3934 LCN2 lipocalin 2 umls:C0027651 Neoplasms 0.21589566783974 6 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0024121 Lung Neoplasms 0.21589566783974 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 10232 MSLN mesothelin umls:C0001418 Adenocarcinoma 0.21589566783974 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5328 PLAU plasminogen activator, urokinase umls:C0030297 Pancreatic Neoplasms 0.21589566783974 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5443 POMC proopiomelanocortin umls:C0221406 Pituitary ACTH Hypersecretion 0.21589566783974 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 11168 PSIP1 PC4 and SFRS1 interacting protein 1 umls:C0023467 Leukemia, Myeloid, Acute 0.21589566783974 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 30061 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 umls:C0002871 Anemia 0.21589566783974 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0027627 Neoplasm Metastasis 0.21589566783974 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8792 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator umls:C0029463 Osteosarcoma 0.21589566783974 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 11173 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 umls:C1956346 Coronary Artery Disease 0.21576815331907 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0004096 Asthma 0.21576815331907 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 367 AR androgen receptor umls:C0004352 Autistic Disorder 0.21576815331907 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2212 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) umls:C0026691 Mucocutaneous Lymph Node Syndrome 0.21576815331907 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10363 HMG20A high mobility group 20A umls:C0011860 Diabetes Mellitus, Type 2 0.21576815331907 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 64135 IFIH1 interferon induced with helicase C domain 1 umls:C0018213 Graves Disease 0.21576815331907 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10320 IKZF1 IKAROS family zinc finger 1 (Ikaros) umls:C0024141 Lupus Erythematosus, Systemic 0.21576815331907 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3557 IL1RN interleukin 1 receptor antagonist umls:C0027051 Myocardial Infarction 0.21576815331907 8 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 5605 MAP2K2 mitogen-activated protein kinase kinase 2 umls:C0028326 Noonan Syndrome 0.21576815331907 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0002871 Anemia 0.21576815331907 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0024301 Lymphoma, Follicular 0.21576815331907 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0025312 Meningomyelocele 0.21576815331907 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0010346 Crohn Disease 0.21576815331907 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5727 PTCH1 patched 1 umls:C0037286 Skin Neoplasms 0.21576815331907 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 55905 RNF114 ring finger protein 114 umls:C0033860 Psoriasis 0.21576815331907 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C0020538 Hypertension 0.21576815331907 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6775 STAT4 signal transducer and activator of transcription 4 umls:C0004943 Behcet Syndrome 0.21576815331907 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 117289 TAGAP T-cell activation RhoGTPase activating protein umls:C0003873 Arthritis, Rheumatoid 0.21576815331907 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 26011 TENM4 teneurin transmembrane protein 4 umls:C0005586 Bipolar Disorder 0.21576815331907 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0008149 Chlamydia Infections 0.21576815331907 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7189 TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase umls:C0003873 Arthritis, Rheumatoid 0.21576815331907 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0020538 Hypertension 0.21576815331907 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 57679 ALS2 amyotrophic lateral sclerosis 2 (juvenile) umls:C2931441 Hereditary spastic paralysis, infantile onset ascending 0.215719122360472 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 324 APC adenomatous polyposis coli umls:C0021846 Intestinal Polyps 0.215719122360472 16 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1030 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) umls:C0024299 Lymphoma 0.215719122360472 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3078 CFHR1 complement factor H-related 1 umls:C2931788 Atypical Hemolytic Uremic Syndrome 0.215719122360472 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 25978 CHMP2B charged multivesicular body protein 2B umls:C0751072 Frontotemporal Lobar Degeneration 0.215719122360472 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1813 DRD2 dopamine receptor D2 umls:C0003469 Anxiety Disorders 0.215719122360472 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2289 FKBP5 FK506 binding protein 5 umls:C1269683 Depressive Disorder, Major 0.215719122360472 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3440 IFNA2 interferon, alpha 2 umls:C0025202 Melanoma 0.215719122360472 31 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0001430 Adenoma 0.215719122360472 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0023890 Liver Cirrhosis 0.215719122360472 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0021390 Inflammatory Bowel Diseases 0.215719122360472 13 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6899 TBX1 T-box 1 umls:C0018798 Heart Defects, Congenital 0.215719122360472 14 Biomarker, GeneticVariation BeFree, CTD_human, GAD 438 ASMT acetylserotonin O-methyltransferase umls:C0004352 Autistic Disorder 0.215690158294358 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 721 C4B complement component 4B (Chido blood group) umls:C0004364 Autoimmune Diseases 0.215690158294358 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 847 CAT catalase umls:C0003873 Arthritis, Rheumatoid 0.215690158294358 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2067 ERCC1 excision repair cross-complementation group 1 umls:C0027627 Neoplasm Metastasis 0.215690158294358 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2876 GPX1 glutathione peroxidase 1 umls:C0007137 Carcinoma, Squamous Cell 0.215690158294358 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2995 GYPC glycophorin C (Gerbich blood group) umls:C0024530 Malaria 0.215690158294358 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0017658 Glomerulonephritis 0.215690158294358 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C0018817 Heart Septal Defects, Atrial 0.215690158294358 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 22871 NLGN1 neuroligin 1 umls:C0004352 Autistic Disorder 0.215690158294358 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4843 NOS2 nitric oxide synthase 2, inducible umls:C0023895 Liver Diseases 0.215690158294358 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 9037 SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A umls:C0004352 Autistic Disorder 0.215690158294358 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0001430 Adenoma 0.215690158294358 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0005695 Urinary Bladder Neoplasms 0.215690158294358 5 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 3439 IFNA1 interferon, alpha 1 umls:C2239176 Carcinoma, Hepatocellular 0.215670091401873 23 Biomarker, Therapeutic BeFree, CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0175693 Silver-Russell Syndrome 0.215670091401873 20 Biomarker BeFree, CTD_human 8028 MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 umls:C0023467 Leukemia, Myeloid, Acute 0.215670091401873 20 Biomarker BeFree, CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0011581 Depressive Disorder 0.215670091401873 21 Biomarker, GeneticVariation BeFree, CTD_human 6098 ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.215670091401873 20 Biomarker BeFree, CTD_human 25939 SAMHD1 SAM domain and HD domain 1 umls:C0796126 Aicardi-Goutieres syndrome 0.215670091401873 20 Biomarker BeFree, CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C0023467 Leukemia, Myeloid, Acute 0.21564112733576 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1401 CRP C-reactive protein, pentraxin-related umls:C2239176 Carcinoma, Hepatocellular 0.21564112733576 13 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 23586 DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 umls:C0021400 Influenza, Human 0.21564112733576 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0030354 Papilloma 0.21564112733576 12 Biomarker BeFree, CTD_human, LHGDN 3569 IL6 interleukin 6 umls:C0032285 Pneumonia 0.21564112733576 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3868 KRT16 keratin 16, type I umls:C0265334 Pachyonychia Congenita 0.21564112733576 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4292 MLH1 mutL homolog 1 umls:C0027627 Neoplasm Metastasis 0.21564112733576 13 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4306 NR3C2 nuclear receptor subfamily 3, group C, member 2 umls:C0033805 Pseudohypoaldosteronism 0.21564112733576 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0025517 Metabolic Diseases 0.21564112733576 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 23532 PRAME preferentially expressed antigen in melanoma umls:C0023418 Leukemia 0.21564112733576 13 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 81 ACTN4 actinin, alpha 4 umls:C0007097 Carcinoma 0.215612163269646 5 Biomarker BeFree, CTD_human, LHGDN 701 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B umls:C0009404 Colorectal Neoplasms 0.215612163269646 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1230 CCR1 chemokine (C-C motif) receptor 1 umls:C2239176 Carcinoma, Hepatocellular 0.215612163269646 3 Biomarker BeFree, CTD_human, LHGDN 960 CD44 CD44 molecule (Indian blood group) umls:C0038356 Stomach Neoplasms 0.215612163269646 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1540 CYLD cylindromatosis (turban tumor syndrome) umls:C2239176 Carcinoma, Hepatocellular 0.215612163269646 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1789 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta umls:C1458155 Breast Neoplasms 0.215612163269646 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 9156 EXO1 exonuclease 1 umls:C0009404 Colorectal Neoplasms 0.215612163269646 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0033578 Prostatic Neoplasms 0.215612163269646 5 Biomarker BeFree, CTD_human, LHGDN 2520 GAST gastrin umls:C0038356 Stomach Neoplasms 0.215612163269646 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2688 GH1 growth hormone 1 umls:C0007222 Cardiovascular Diseases 0.215612163269646 5 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0022658 Kidney Diseases 0.215612163269646 5 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 10320 IKZF1 IKAROS family zinc finger 1 (Ikaros) umls:C0024299 Lymphoma 0.215612163269646 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3691 ITGB4 integrin, beta 4 umls:C0014527 Epidermolysis Bullosa 0.215612163269646 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 10232 MSLN mesothelin umls:C0919267 Ovarian Neoplasms 0.215612163269646 5 Biomarker BeFree, CTD_human, LHGDN 10232 MSLN mesothelin umls:C0030297 Pancreatic Neoplasms 0.215612163269646 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 9971 NR1H4 nuclear receptor subfamily 1, group H, member 4 umls:C0023895 Liver Diseases 0.215612163269646 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3651 PDX1 pancreatic and duodenal homeobox 1 umls:C0030297 Pancreatic Neoplasms 0.215612163269646 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5300 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 umls:C1458155 Breast Neoplasms 0.215612163269646 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5747 PTK2 protein tyrosine kinase 2 umls:C0007137 Carcinoma, Squamous Cell 0.215612163269646 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5747 PTK2 protein tyrosine kinase 2 umls:C0017636 Glioblastoma 0.215612163269646 5 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C0033805 Pseudohypoaldosteronism 0.215612163269646 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6338 SCNN1B sodium channel, non voltage gated 1 beta subunit umls:C0033805 Pseudohypoaldosteronism 0.215612163269646 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6422 SFRP1 secreted frizzled-related protein 1 umls:C0009404 Colorectal Neoplasms 0.215612163269646 6 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0007786 Brain Ischemia 0.215612163269646 5 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0009375 Colonic Neoplasms 0.215612163269646 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6850 SYK spleen tyrosine kinase umls:C0025202 Melanoma 0.215612163269646 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8600 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 umls:C0029454 Osteopetrosis 0.215612163269646 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7431 VIM vimentin umls:C0033578 Prostatic Neoplasms 0.215612163269646 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 886 CCKAR cholecystokinin A receptor umls:C0001973 Alcoholism 0.215484648748976 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 919 CD247 CD247 molecule umls:C0036421 Scleroderma, Systemic 0.215484648748976 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 958 CD40 CD40 molecule, TNF receptor superfamily member 5 umls:C0026691 Mucocutaneous Lymph Node Syndrome 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1378 CR1 complement component (3b/4b) receptor 1 (Knops blood group) umls:C0024535 Malaria, Falciparum 0.215484648748976 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1739 DLG1 discs, large homolog 1 (Drosophila) umls:C0036341 Schizophrenia 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1814 DRD3 dopamine receptor D3 umls:C0040517 Tourette Syndrome 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0026764 Multiple Myeloma 0.215484648748976 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2067 ERCC1 excision repair cross-complementation group 1 umls:C0025202 Melanoma 0.215484648748976 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 339145 FAM92B family with sequence similarity 92, member B umls:C0010346 Crohn Disease 0.215484648748976 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2901 GRIK5 glutamate receptor, ionotropic, kainate 5 umls:C0036341 Schizophrenia 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3240 HP haptoglobin umls:C0002871 Anemia 0.215484648748976 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3240 HP haptoglobin umls:C0036341 Schizophrenia 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3593 IL12B interleukin 12B umls:C0024141 Lupus Erythematosus, Systemic 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3553 IL1B interleukin 1, beta umls:C0029458 Osteoporosis, Postmenopausal 0.215484648748976 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3559 IL2RA interleukin 2 receptor, alpha umls:C0010346 Crohn Disease 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3710 ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 umls:C0011854 Diabetes Mellitus, Type 1 0.215484648748976 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 57608 KIAA1462 KIAA1462 umls:C1956346 Coronary Artery Disease 0.215484648748976 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0023903 Liver Neoplasms 0.215484648748976 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3988 LIPA lipase A, lysosomal acid, cholesterol esterase umls:C1956346 Coronary Artery Disease 0.215484648748976 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0037198 Sinus Thrombosis, Intracranial 0.215484648748976 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0243026 Sepsis 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5629 PROX1 prospero homeobox 1 umls:C0011860 Diabetes Mellitus, Type 2 0.215484648748976 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10610 ST6GALNAC2 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 umls:C0017661 Glomerulonephritis, IGA 0.215484648748976 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0017668 Glomerulosclerosis, Focal Segmental 0.215484648748976 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0029172 Oral Submucous Fibrosis 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8626 TP63 tumor protein p63 umls:C0008925 Cleft Palate 0.215484648748976 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7367 UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 umls:C0018133 Graft vs Host Disease 0.215484648748976 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C0162872 Aortic Aneurysm, Thoracic 0.215435617790378 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 57817 HAMP hepcidin antimicrobial peptide umls:C0005283 beta-Thalassemia 0.215435617790378 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23284 LPHN3 latrophilin 3 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.215435617790378 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C2239176 Carcinoma, Hepatocellular 0.215435617790378 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7450 VWF von Willebrand factor umls:C0007222 Cardiovascular Diseases 0.215435617790378 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0919267 Ovarian Neoplasms 0.215406653724264 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 405 ARNT aryl hydrocarbon receptor nuclear translocator umls:C0014175 Endometriosis 0.215406653724264 3 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1187 CLCNKA chloride channel, voltage-sensitive Ka umls:C0020538 Hypertension 0.215406653724264 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0030297 Pancreatic Neoplasms 0.215406653724264 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1746 DLX2 distal-less homeobox 2 umls:C0004352 Autistic Disorder 0.215406653724264 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0004352 Autistic Disorder 0.215406653724264 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3481 IGF2 insulin-like growth factor 2 umls:C0004153 Atherosclerosis 0.215406653724264 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3552 IL1A interleukin 1, alpha umls:C0011633 Dermatomyositis 0.215406653724264 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3553 IL1B interleukin 1, beta umls:C0011633 Dermatomyositis 0.215406653724264 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4139 MARK1 MAP/microtubule affinity-regulating kinase 1 umls:C0004352 Autistic Disorder 0.215406653724264 2 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4153 MBL2 mannose-binding lectin (protein C) 2, soluble umls:C0085207 Diabetes, Gestational 0.215406653724264 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 259197 NCR3 natural cytotoxicity triggering receptor 3 umls:C0024530 Malaria 0.215406653724264 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5110 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase umls:C0080178 Spinal Dysraphism 0.215406653724264 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0003949 Asbestosis 0.215406653724264 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0002395 Alzheimer Disease 0.215406653724264 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6712 SPTBN2 spectrin, beta, non-erythrocytic 2 umls:C0087012 Spinocerebellar Ataxias 0.215406653724264 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0205770 Papilloma, Choroid Plexus 0.215406653724264 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0699791 STOMACH CARCINOMA 0.21538658683178 19 Biomarker, GeneticVariation BeFree, UNIPROT 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C2931838 Familial HDL deficiency 0.21538658683178 19 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0020538 Hypertension 0.21538658683178 20 Biomarker, Therapeutic BeFree, CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.21538658683178 20 Biomarker BeFree, CTD_human 8101 CLLS2 Disrupted in B-cell neoplasia umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21538658683178 19 Biomarker BeFree, CTD_human 1540 CYLD cylindromatosis (turban tumor syndrome) umls:C1305968 Familial cylindromatosis 0.21538658683178 20 Biomarker, GeneticVariation BeFree, CTD_human 201163 FLCN folliculin umls:C0007134 Carcinoma, Renal Cell 0.21538658683178 20 Biomarker BeFree, CTD_human 2641 GCG glucagon umls:C0020456 Hyperglycemia 0.21538658683178 21 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0524909 Hepatitis B, Chronic 0.21538658683178 25 Biomarker, Therapeutic BeFree, CTD_human 4869 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) umls:C0023487 Leukemia, Promyelocytic, Acute 0.21538658683178 20 Biomarker, GeneticVariation BeFree, CTD_human 134430 WDR36 WD repeat domain 36 umls:C0339573 Glaucoma, Primary Open Angle 0.21538658683178 19 Biomarker, GeneticVariation BeFree, CTD_human 478 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide umls:C0013421 Dystonia 0.215357622765666 10 Biomarker BeFree, CTD_human, LHGDN 648 BMI1 BMI1 proto-oncogene, polycomb ring finger umls:C0017638 Glioma 0.215357622765666 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 286077 FAM83H family with sequence similarity 83, member H umls:C0002452 Amelogenesis Imperfecta 0.215357622765666 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 55120 FANCL Fanconi anemia, complementation group L umls:C0015625 Fanconi Anemia 0.215357622765666 10 Biomarker BeFree, CTD_human, LHGDN 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C2239176 Carcinoma, Hepatocellular 0.215357622765666 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C0014553 Epilepsy, Absence 0.215357622765666 10 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0007134 Carcinoma, Renal Cell 0.215357622765666 10 Biomarker BeFree, CTD_human, LHGDN 3785 KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 umls:C0270851 Epilepsy, Benign Neonatal 0.215357622765666 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0004114 Astrocytoma 0.215357622765666 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4582 MUC1 mucin 1, cell surface associated umls:C0026764 Multiple Myeloma 0.215357622765666 11 Biomarker BeFree, CTD_human, LHGDN 4983 OPHN1 oligophrenin 1 umls:C1136249 Mental Retardation, X-Linked 0.215357622765666 10 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0024299 Lymphoma 0.215357622765666 12 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0027627 Neoplasm Metastasis 0.215357622765666 12 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 7173 TPO thyroid peroxidase umls:C0018021 Goiter 0.215357622765666 13 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7273 TTN titin umls:C0026848 Muscular Diseases 0.215357622765666 10 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 186 AGTR2 angiotensin II receptor, type 2 umls:C1136249 Mental Retardation, X-Linked 0.215328658699552 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 240 ALOX5 arachidonate 5-lipoxygenase umls:C0009375 Colonic Neoplasms 0.215328658699552 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 573 BAG1 BCL2-associated athanogene umls:C1458155 Breast Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 598 BCL2L1 BCL2-like 1 umls:C0024121 Lung Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 650 BMP2 bone morphogenetic protein 2 umls:C1458155 Breast Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0007273 Carotid Artery Diseases 0.215328658699552 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0010606 Carcinoma, Adenoid Cystic 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 55743 CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase umls:C0038356 Stomach Neoplasms 0.215328658699552 3 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 1118 CHIT1 chitinase 1 (chitotriosidase) umls:C0017205 Gaucher Disease 0.215328658699552 3 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1259 CNGA1 cyclic nucleotide gated channel alpha 1 umls:C0035334 Retinitis Pigmentosa 0.215328658699552 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0009404 Colorectal Neoplasms 0.215328658699552 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1825 DSC3 desmocollin 3 umls:C1458155 Breast Neoplasms 0.215328658699552 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2057 EPOR erythropoietin receptor umls:C1458155 Breast Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0009404 Colorectal Neoplasms 0.215328658699552 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2118 ETV4 ets variant 4 umls:C0033578 Prostatic Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8074 FGF23 fibroblast growth factor 23 umls:C0006663 Calcinosis 0.215328658699552 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2799 GNS glucosamine (N-acetyl)-6-sulfatase umls:C0026706 Mucopolysaccharidosis III 0.215328658699552 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3240 HP haptoglobin umls:C1458155 Breast Neoplasms 0.215328658699552 4 Biomarker BeFree, CTD_human, LHGDN 3490 IGFBP7 insulin-like growth factor binding protein 7 umls:C1458155 Breast Neoplasms 0.215328658699552 4 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3490 IGFBP7 insulin-like growth factor binding protein 7 umls:C0033578 Prostatic Neoplasms 0.215328658699552 3 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3586 IL10 interleukin 10 umls:C0023281 Leishmaniasis 0.215328658699552 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3725 JUN jun proto-oncogene umls:C0029463 Osteosarcoma 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4170 MCL1 myeloid cell leukemia 1 umls:C0024121 Lung Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4194 MDM4 MDM4, p53 regulator umls:C1458155 Breast Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4288 MKI67 marker of proliferation Ki-67 umls:C0919267 Ovarian Neoplasms 0.215328658699552 4 Biomarker BeFree, CTD_human, LHGDN 4316 MMP7 matrix metallopeptidase 7 (matrilysin, uterine) umls:C0009375 Colonic Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 92140 MTDH metadherin umls:C1458155 Breast Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0005695 Urinary Bladder Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4879 NPPB natriuretic peptide B umls:C0003504 Aortic Valve Insufficiency 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5245 PHB prohibitin umls:C1458155 Breast Neoplasms 0.215328658699552 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5329 PLAUR plasminogen activator, urokinase receptor umls:C0007097 Carcinoma 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0020456 Hyperglycemia 0.215328658699552 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0040136 Thyroid Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 29108 PYCARD PYD and CARD domain containing umls:C0009404 Colorectal Neoplasms 0.215328658699552 2 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 9821 RB1CC1 RB1-inducible coiled-coil 1 umls:C1458155 Breast Neoplasms 0.215328658699552 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5950 RBP4 retinol binding protein 4, plasma umls:C0032460 Polycystic Ovary Syndrome 0.215328658699552 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 83998 REG4 regenerating islet-derived family, member 4 umls:C0038356 Stomach Neoplasms 0.215328658699552 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8991 SELENBP1 selenium binding protein 1 umls:C0009404 Colorectal Neoplasms 0.215328658699552 2 Biomarker BeFree, CTD_human, LHGDN 55630 SLC39A4 solute carrier family 39 (zinc transporter), member 4 umls:C0001197 Acrodermatitis 0.215328658699552 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0030567 Parkinson Disease 0.215328658699552 6 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0007097 Carcinoma 0.215328658699552 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8614 STC2 stanniocalcin 2 umls:C1458155 Breast Neoplasms 0.215328658699552 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7137 TNNI3 troponin I type 3 (cardiac) umls:C0027051 Myocardial Infarction 0.215328658699552 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 8626 TP63 tumor protein p63 umls:C0919267 Ovarian Neoplasms 0.215328658699552 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3908 LAMA2 laminin, alpha 2 umls:C0699743 Congenital muscular dystrophy 0.215309246785058 54 Biomarker, GeneticVariation BeFree, CLINVAR 1636 ACE angiotensin I converting enzyme umls:C1175175 Severe Acute Respiratory Syndrome 0.215201144178882 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 348 APOE apolipoprotein E umls:C0751967 Multiple Sclerosis, Relapsing-Remitting 0.215201144178882 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.215201144178882 5 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 388125 C2CD4B C2 calcium-dependent domain containing 4B umls:C0011860 Diabetes Mellitus, Type 2 0.215201144178882 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0026769 Multiple Sclerosis 0.215201144178882 4 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 1280 COL2A1 collagen, type II, alpha 1 umls:C0027092 Myopia 0.215201144178882 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1312 COMT catechol-O-methyltransferase umls:C0004352 Autistic Disorder 0.215201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0001418 Adenocarcinoma 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0023895 Liver Diseases 0.215201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1815 DRD4 dopamine receptor D4 umls:C0040188 Tic Disorders 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0024299 Lymphoma 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2557 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 umls:C0004352 Autistic Disorder 0.215201144178882 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2906 GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D umls:C0036341 Schizophrenia 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2993 GYPA glycophorin A (MNS blood group) umls:C0024530 Malaria 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3098 HK1 hexokinase 1 umls:C0011860 Diabetes Mellitus, Type 2 0.215201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0014175 Endometriosis 0.215201144178882 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 64135 IFIH1 interferon induced with helicase C domain 1 umls:C0033860 Psoriasis 0.215201144178882 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3458 IFNG interferon, gamma umls:C0024314 Lymphoproliferative Disorders 0.215201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3687 ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) umls:C0024141 Lupus Erythematosus, Systemic 0.215201144178882 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4015 LOX lysyl oxidase umls:C0029172 Oral Submucous Fibrosis 0.215201144178882 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C0042900 Vitiligo 0.215201144178882 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0162429 Malnutrition 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4792 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha umls:C0033860 Psoriasis 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0005586 Bipolar Disorder 0.215201144178882 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4923 NTSR1 neurotensin receptor 1 (high affinity) umls:C0036341 Schizophrenia 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 639 PRDM1 PR domain containing 1, with ZNF domain umls:C0003873 Arthritis, Rheumatoid 0.215201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5579 PRKCB protein kinase C, beta umls:C0011860 Diabetes Mellitus, Type 2 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8000 PSCA prostate stem cell antigen umls:C0005695 Urinary Bladder Neoplasms 0.215201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8490 RGS5 regulator of G-protein signaling 5 umls:C0020538 Hypertension 0.215201144178882 4 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 9672 SDC3 syndecan 3 umls:C0028754 Obesity 0.215201144178882 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 22941 SHANK2 SH3 and multiple ankyrin repeat domains 2 umls:C0004352 Autistic Disorder 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C3495559 Arthritis, Juvenile 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 121260 SLC15A4 solute carrier family 15 (oligopeptide transporter), member 4 umls:C0024141 Lupus Erythematosus, Systemic 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0023891 Liver Cirrhosis, Alcoholic 0.215201144178882 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0029458 Osteoporosis, Postmenopausal 0.215201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7252 TSHB thyroid stimulating hormone, beta umls:C0020676 Hypothyroidism 0.215201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0027651 Neoplasms 0.215201144178882 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7168 TPM1 tropomyosin 1 (alpha) umls:C0007193 Cardiomyopathy, Dilated 0.215192901983243 17 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 135 ADORA2A adenosine A2a receptor umls:C0003469 Anxiety Disorders 0.215152113220284 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 51752 ERAP1 endoplasmic reticulum aminopeptidase 1 umls:C0033860 Psoriasis 0.215152113220284 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2066 ERBB4 erb-b2 receptor tyrosine kinase 4 umls:C0025202 Melanoma 0.215152113220284 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2737 GLI3 GLI family zinc finger 3 umls:C0152427 Polydactyly 0.215152113220284 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2767 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) umls:C0025202 Melanoma 0.215152113220284 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3240 HP haptoglobin umls:C0019693 HIV Infections 0.215152113220284 11 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 3481 IGF2 insulin-like growth factor 2 umls:C0023903 Liver Neoplasms 0.215152113220284 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 27347 STK39 serine threonine kinase 39 umls:C0020538 Hypertension 0.215152113220284 11 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0007785 Cerebral Infarction 0.21512314915417 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 116987 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 umls:C0004352 Autistic Disorder 0.21512314915417 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 185 AGTR1 angiotensin II receptor, type 1 umls:C0011884 Diabetic Retinopathy 0.21512314915417 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 843 CASP10 caspase 10, apoptosis-related cysteine peptidase umls:C0025202 Melanoma 0.21512314915417 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1670 DEFA5 defensin, alpha 5, Paneth cell-specific umls:C0021390 Inflammatory Bowel Diseases 0.21512314915417 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1745 DLX1 distal-less homeobox 1 umls:C0004352 Autistic Disorder 0.21512314915417 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 1806 DPYD dihydropyrimidine dehydrogenase umls:C0009375 Colonic Neoplasms 0.21512314915417 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0020619 Hypogonadism 0.21512314915417 4 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD, LHGDN 2918 GRM8 glutamate receptor, metabotropic 8 umls:C0004352 Autistic Disorder 0.21512314915417 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3105 HLA-A major histocompatibility complex, class I, A umls:C0004352 Autistic Disorder 0.21512314915417 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3106 HLA-B major histocompatibility complex, class I, B umls:C0011603 Dermatitis 0.21512314915417 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0038356 Stomach Neoplasms 0.21512314915417 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3291 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 umls:C0011854 Diabetes Mellitus, Type 1 0.21512314915417 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 umls:C0848558 Hypospadias 0.21512314915417 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3313 HSPA9 heat shock 70kDa protein 9 (mortalin) umls:C0030567 Parkinson Disease 0.21512314915417 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3717 JAK2 Janus kinase 2 umls:C0032962 Pregnancy Complications 0.21512314915417 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 3981 LIG4 ligase IV, DNA, ATP-dependent umls:C0026764 Multiple Myeloma 0.21512314915417 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4323 MMP14 matrix metallopeptidase 14 (membrane-inserted) umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.21512314915417 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C1458155 Breast Neoplasms 0.21512314915417 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 23022 PALLD palladin, cytoskeletal associated protein umls:C0030297 Pancreatic Neoplasms 0.21512314915417 3 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5534 PPP3R1 protein phosphatase 3, regulatory subunit B, alpha umls:C0149721 Hypertrophy, Left Ventricular 0.21512314915417 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5788 PTPRC protein tyrosine phosphatase, receptor type, C umls:C0019196 Hepatitis C 0.21512314915417 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5649 RELN reelin umls:C0002395 Alzheimer Disease 0.21512314915417 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C0010674 Cystic Fibrosis 0.21512314915417 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 6401 SELE selectin E umls:C0017661 Glomerulonephritis, IGA 0.21512314915417 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0024121 Lung Neoplasms 0.21512314915417 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0030848 Penile Induration 0.21512314915417 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 8792 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21512314915417 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0010674 Cystic Fibrosis 0.21512314915417 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 7296 TXNRD1 thioredoxin reductase 1 umls:C0001430 Adenoma 0.21512314915417 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD, LHGDN 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0027627 Neoplasm Metastasis 0.215103082261686 19 Biomarker BeFree, CTD_human 1594 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 umls:C0035579 Rickets 0.215103082261686 19 Biomarker BeFree, CTD_human 2194 FASN fatty acid synthase umls:C2239176 Carcinoma, Hepatocellular 0.215103082261686 20 Biomarker BeFree, CTD_human 2316 FLNA filamin A, alpha umls:C1868720 Periventricular Nodular Heterotopia 0.215103082261686 19 Biomarker BeFree, CTD_human 60498 IGAN1 IgA nephropathy umls:C0017661 Glomerulonephritis, IGA 0.215103082261686 18 Biomarker BeFree, CTD_human 4286 MITF microphthalmia-associated transcription factor umls:C2700265 Waardenburg syndrome type 2 0.215103082261686 19 Biomarker BeFree, CTD_human 4602 MYB v-myb avian myeloblastosis viral oncogene homolog umls:C0010606 Carcinoma, Adenoid Cystic 0.215103082261686 19 Biomarker BeFree, CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.215103082261686 18 Biomarker BeFree, CTD_human 6208 RPS14 ribosomal protein S14 umls:C0740302 5q- syndrome 0.215103082261686 18 Biomarker BeFree, CTD_human 79577 CDC73 cell division cycle 73 umls:C0687150 parathyroid cancer 0.215074773173563 45 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 2023 ENO1 enolase 1, (alpha) umls:C0003873 Arthritis, Rheumatoid 0.215074118195572 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 50943 FOXP3 forkhead box P3 umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.215074118195572 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2821 GPI glucose-6-phosphate isomerase umls:C0002878 Anemia, Hemolytic 0.215074118195572 9 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 10553 HTATIP2 HIV-1 Tat interactive protein 2, 30kDa umls:C2239176 Carcinoma, Hepatocellular 0.215074118195572 9 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3606 IL18 interleukin 18 umls:C0027627 Neoplasm Metastasis 0.215074118195572 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0023479 Leukemia, Myelomonocytic, Acute 0.215074118195572 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3872 KRT17 keratin 17, type I umls:C0265334 Pachyonychia Congenita 0.215074118195572 10 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 54474 KRT20 keratin 20, type I umls:C0001418 Adenocarcinoma 0.215074118195572 11 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4853 NOTCH2 notch 2 umls:C0085280 Alagille Syndrome 0.215074118195572 9 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5309 PITX3 paired-like homeodomain 3 umls:C0086543 Cataract 0.215074118195572 10 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0085261 Proteus Syndrome 0.215074118195572 12 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0085655 Polymyositis 0.215074118195572 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0033860 Psoriasis 0.215074118195572 11 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 64241 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 umls:C0242216 Gallstones 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0009404 Colorectal Neoplasms 0.215045154129459 2 Biomarker, GeneticVariation CTD_human, LHGDN 10551 AGR2 anterior gradient 2 umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 208 AKT2 v-akt murine thymoma viral oncogene homolog 2 umls:C1458155 Breast Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 23600 AMACR alpha-methylacyl-CoA racemase umls:C0009404 Colorectal Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 301 ANXA1 annexin A1 umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 324 APC adenomatous polyposis coli umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 Biomarker, PostTranslationalModification CTD_human, LHGDN 6790 AURKA aurora kinase A umls:C0009404 Colorectal Neoplasms 0.215045154129459 2 Biomarker, PostTranslationalModification CTD_human, LHGDN 551 AVP arginine vasopressin umls:C0020649 Hypotension 0.215045154129459 7 Biomarker, Therapeutic CTD_human, LHGDN 563 AZGP1 alpha-2-glycoprotein 1, zinc-binding umls:C0001418 Adenocarcinoma 0.215045154129459 2 AlteredExpression, Biomarker CTD_human, LHGDN 581 BAX BCL2-associated X protein umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 Biomarker, PostTranslationalModification CTD_human, LHGDN 23705 CADM1 cell adhesion molecule 1 umls:C1458155 Breast Neoplasms 0.215045154129459 2 Biomarker, GeneticVariation, PostTranslationalModification CTD_human, LHGDN 816 CAMK2B calcium/calmodulin-dependent protein kinase II beta umls:C0036341 Schizophrenia 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 595 CCND1 cyclin D1 umls:C0020507 Hyperplasia 0.215045154129459 4 AlteredExpression, Biomarker CTD_human, LHGDN 1003 CDH5 cadherin 5, type 2 (vascular endothelium) umls:C1458155 Breast Neoplasms 0.215045154129459 3 Biomarker CTD_human, LHGDN 8837 CFLAR CASP8 and FADD-like apoptosis regulator umls:C0023418 Leukemia 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 1269 CNR2 cannabinoid receptor 2 (macrophage) umls:C0023467 Leukemia, Myeloid, Acute 0.215045154129459 2 AlteredExpression, Biomarker CTD_human, LHGDN 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0005695 Urinary Bladder Neoplasms 0.215045154129459 4 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0005695 Urinary Bladder Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0919267 Ovarian Neoplasms 0.215045154129459 2 Biomarker CTD_human, LHGDN 1965 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa umls:C0002395 Alzheimer Disease 0.215045154129459 3 AlteredExpression, Biomarker, PostTranslationalModification CTD_human, LHGDN 2023 ENO1 enolase 1, (alpha) umls:C0002395 Alzheimer Disease 0.215045154129459 3 Biomarker CTD_human, LHGDN 2056 EPO erythropoietin umls:C0270611 Brain Injuries 0.215045154129459 3 Biomarker, Therapeutic CTD_human, LHGDN 7430 EZR ezrin umls:C0033578 Prostatic Neoplasms 0.215045154129459 4 AlteredExpression, Biomarker CTD_human, LHGDN 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0038356 Stomach Neoplasms 0.215045154129459 4 AlteredExpression, Biomarker, PostTranslationalModification CTD_human, LHGDN 2274 FHL2 four and a half LIM domains 2 umls:C1458155 Breast Neoplasms 0.215045154129459 2 AlteredExpression, Biomarker CTD_human, LHGDN 1647 GADD45A growth arrest and DNA-damage-inducible, alpha umls:C0919267 Ovarian Neoplasms 0.215045154129459 2 AlteredExpression, Therapeutic CTD_human, LHGDN 2638 GC group-specific component (vitamin D binding protein) umls:C0162557 Liver Failure, Acute 0.215045154129459 4 AlteredExpression, Biomarker CTD_human, LHGDN 2650 GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 umls:C0033578 Prostatic Neoplasms 0.215045154129459 2 Biomarker, GeneticVariation CTD_human, LHGDN 3161 HMMR hyaluronan-mediated motility receptor (RHAMM) umls:C1458155 Breast Neoplasms 0.215045154129459 2 AlteredExpression, Biomarker CTD_human, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C1458155 Breast Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 10481 HOXB13 homeobox B13 umls:C0033578 Prostatic Neoplasms 0.215045154129459 5 AlteredExpression, Biomarker CTD_human, LHGDN 10855 HPSE heparanase umls:C1458155 Breast Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 3481 IGF2 insulin-like growth factor 2 umls:C0015934 Fetal Growth Retardation 0.215045154129459 4 AlteredExpression, Biomarker CTD_human, LHGDN 3553 IL1B interleukin 1, beta umls:C0020615 Hypoglycemia 0.215045154129459 3 Biomarker CTD_human, LHGDN 3553 IL1B interleukin 1, beta umls:C0024121 Lung Neoplasms 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 3725 JUN jun proto-oncogene umls:C0038356 Stomach Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker, PostTranslationalModification CTD_human, LHGDN 1902 LPAR1 lysophosphatidic acid receptor 1 umls:C1458155 Breast Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 1902 LPAR1 lysophosphatidic acid receptor 1 umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0919267 Ovarian Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0038356 Stomach Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker, PostTranslationalModification CTD_human, LHGDN 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0007097 Carcinoma 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 4292 MLH1 mutL homolog 1 umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 4502 MT2A metallothionein 2A umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0919267 Ovarian Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 4585 MUC4 mucin 4, cell surface associated umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 Biomarker CTD_human, LHGDN 4598 MVK mevalonate kinase umls:C0015967 Fever 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 9 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0003130 Anoxia 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0027651 Neoplasms 0.215045154129459 3 Biomarker CTD_human, LHGDN 4879 NPPB natriuretic peptide B umls:C0242707 Ventricular Dysfunction, Right 0.215045154129459 4 AlteredExpression, Biomarker CTD_human, LHGDN 5069 PAPPA pregnancy-associated plasma protein A, pappalysin 1 umls:C0027051 Myocardial Infarction 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0021368 Inflammation 0.215045154129459 3 Biomarker CTD_human, LHGDN 5277 PIGA phosphatidylinositol glycan anchor biosynthesis, class A umls:C0019050 Hemoglobinuria, Paroxysmal 0.215045154129459 4 Biomarker, GeneticVariation CTD_human, LHGDN 5444 PON1 paraoxonase 1 umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0005695 Urinary Bladder Neoplasms 0.215045154129459 8 AlteredExpression, Biomarker CTD_human, LHGDN 387 RHOA ras homolog family member A umls:C0007097 Carcinoma 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 387 RHOA ras homolog family member A umls:C0038356 Stomach Neoplasms 0.215045154129459 4 Biomarker CTD_human, LHGDN 6019 RLN2 relaxin 2 umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C0027125 Myotonia 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 6441 SFTPD surfactant protein D umls:C0024121 Lung Neoplasms 0.215045154129459 4 AlteredExpression, Biomarker CTD_human, LHGDN 6470 SHMT1 serine hydroxymethyltransferase 1 (soluble) umls:C1458155 Breast Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 64374 SIL1 SIL1 nucleotide exchange factor umls:C0037952 Spinocerebellar Degenerations 0.215045154129459 2 Biomarker, GeneticVariation CTD_human, LHGDN 6502 SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase umls:C0027651 Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 6608 SMO smoothened, frizzled class receptor umls:C0007117 Carcinoma, Basal Cell 0.215045154129459 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 25803 SPDEF SAM pointed domain containing ETS transcription factor umls:C0919267 Ovarian Neoplasms 0.215045154129459 2 AlteredExpression, Biomarker CTD_human, LHGDN 7010 TEK TEK tyrosine kinase, endothelial umls:C0027686 Neovascularization, Pathologic 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0009375 Colonic Neoplasms 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0009405 Colorectal Neoplasms, Hereditary Nonpolyposis 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, LHGDN 10333 TLR6 toll-like receptor 6 umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 Biomarker, GeneticVariation CTD_human, LHGDN 8600 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 umls:C0002382 Alveolar Bone Loss 0.215045154129459 3 Biomarker CTD_human, LHGDN 7137 TNNI3 troponin I type 3 (cardiac) umls:C0948089 Acute Coronary Syndrome 0.215045154129459 3 Biomarker CTD_human, LHGDN 7276 TTR transthyretin umls:C0024121 Lung Neoplasms 0.215045154129459 4 AlteredExpression, Biomarker CTD_human, LHGDN 7291 TWIST1 twist family bHLH transcription factor 1 umls:C1510455 Acrocephalosyndactylia 0.215045154129459 4 Biomarker, GeneticVariation CTD_human, LHGDN 7291 TWIST1 twist family bHLH transcription factor 1 umls:C0038356 Stomach Neoplasms 0.215045154129459 3 Biomarker CTD_human, LHGDN 7372 UMPS uridine monophosphate synthetase umls:C0033578 Prostatic Neoplasms 0.215045154129459 2 AlteredExpression, Biomarker CTD_human, LHGDN 10451 VAV3 vav 3 guanine nucleotide exchange factor umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0002170 Alopecia 0.215045154129459 4 Biomarker, GeneticVariation CTD_human, LHGDN 7432 VIP vasoactive intestinal peptide umls:C0033578 Prostatic Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 54739 XAF1 XIAP associated factor 1 umls:C0009375 Colonic Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 7515 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 umls:C0033578 Prostatic Neoplasms 0.215045154129459 4 Biomarker, GeneticVariation CTD_human, LHGDN 6935 ZEB1 zinc finger E-box binding homeobox 1 umls:C1458155 Breast Neoplasms 0.215045154129459 3 AlteredExpression, Biomarker CTD_human, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.215025742214965 53 Biomarker, GeneticVariation BeFree, CLINVAR 84142 FAM175A family with sequence similarity 175, member A umls:C0006142 Malignant neoplasm breast 0.214917639608789 3 Biomarker, GeneticVariation BeFree, GAD, UNIPROT 155 ADRB3 adrenoceptor beta 3 umls:C0020473 Hyperlipidemias 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 79722 ANKRD55 ankyrin repeat domain 55 umls:C0003873 Arthritis, Rheumatoid 0.214917639608789 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23780 APOL2 apolipoprotein L, 2 umls:C0036341 Schizophrenia 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 847 CAT catalase umls:C0011882 Diabetic Neuropathies 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0019693 HIV Infections 0.214917639608789 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 941 CD80 CD80 molecule umls:C0007570 Celiac Disease 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4261 CIITA class II, major histocompatibility complex, transactivator umls:C0001403 Addison Disease 0.214917639608789 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1814 DRD3 dopamine receptor D3 umls:C0004352 Autistic Disorder 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.214917639608789 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3106 HLA-B major histocompatibility complex, class I, B umls:C0011609 Drug Eruptions 0.214917639608789 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3586 IL10 interleukin 10 umls:C0241910 Hepatitis, Autoimmune 0.214917639608789 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 400935 IL17REL interleukin 17 receptor E-like umls:C0009324 Colitis, Ulcerative 0.214917639608789 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8807 IL18RAP interleukin 18 receptor accessory protein umls:C0009324 Colitis, Ulcerative 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3565 IL4 interleukin 4 umls:C0034069 Pulmonary Fibrosis 0.214917639608789 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3758 KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 umls:C0020538 Hypertension 0.214917639608789 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 375056 MIA3 melanoma inhibitory activity family, member 3 umls:C0027051 Myocardial Infarction 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0027765 Nervous System Diseases 0.214917639608789 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C0021364 Infertility, Male 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4602 MYB v-myb avian myeloblastosis viral oncogene homolog umls:C0004096 Asthma 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.214917639608789 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4794 NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon umls:C0003873 Arthritis, Rheumatoid 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5184 PEPD peptidase D umls:C0011860 Diabetes Mellitus, Type 2 0.214917639608789 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54899 PXK PX domain containing serine/threonine kinase umls:C0003873 Arthritis, Rheumatoid 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5995 RGR retinal G protein coupled receptor umls:C0035334 Retinitis Pigmentosa 0.214917639608789 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6401 SELE selectin E umls:C0026769 Multiple Sclerosis 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0004943 Behcet Syndrome 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10019 SH2B3 SH2B adaptor protein 3 umls:C0027051 Myocardial Infarction 0.214917639608789 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C0008924 Cleft Lip 0.214917639608789 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6870 TACR3 tachykinin receptor 3 umls:C0001973 Alcoholism 0.214917639608789 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0002949 Aneurysm, Dissecting 0.214917639608789 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7297 TYK2 tyrosine kinase 2 umls:C0010346 Crohn Disease 0.214917639608789 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23607 CD2AP CD2-associated protein umls:C0017668 Glomerulosclerosis, Focal Segmental 0.214868608650191 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23586 DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 umls:C0019196 Hepatitis C 0.214868608650191 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2006 ELN elastin umls:C0020538 Hypertension 0.214868608650191 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.214868608650191 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3240 HP haptoglobin umls:C0004153 Atherosclerosis 0.214868608650191 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C0028945 Oligodendroglioma 0.214868608650191 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0011854 Diabetes Mellitus, Type 1 0.214868608650191 10 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0010072 Coronary Thrombosis 0.214868608650191 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4160 MC4R melanocortin 4 receptor umls:C0020505 Hyperphagia 0.214868608650191 11 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4353 MPO myeloperoxidase umls:C0007222 Cardiovascular Diseases 0.214868608650191 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7292 TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 umls:C0027051 Myocardial Infarction 0.214868608650191 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0473527 Hypoalphalipoproteinemias 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0009404 Colorectal Neoplasms 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0003811 Arrhythmias, Cardiac 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0033578 Prostatic Neoplasms 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 324 APC adenomatous polyposis coli umls:C0004352 Autistic Disorder 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 335 APOA1 apolipoprotein A-I umls:C0473527 Hypoalphalipoproteinemias 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 335 APOA1 apolipoprotein A-I umls:C0021368 Inflammation 0.214839644584077 3 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 627 BDNF brain-derived neurotrophic factor umls:C0040336 Tobacco Use Disorder 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 635 BHMT betaine--homocysteine S-methyltransferase umls:C0000832 Abruptio Placentae 0.214839644584077 1 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 56244 BTNL2 butyrophilin-like 2 (MHC class II associated) umls:C0005138 Berylliosis 0.214839644584077 1 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0022876 Obstetric Labor, Premature 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0038356 Stomach Neoplasms 0.214839644584077 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 1812 DRD1 dopamine receptor D1 umls:C0004352 Autistic Disorder 0.214839644584077 1 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0007097 Carcinoma 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2068 ERCC2 excision repair cross-complementation group 2 umls:C0033578 Prostatic Neoplasms 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C2937358 Cerebral Hemorrhage 0.214839644584077 3 GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 2255 FGF10 fibroblast growth factor 10 umls:C0008924 Cleft Lip 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2729 GCLC glutamate-cysteine ligase, catalytic subunit umls:C0020538 Hypertension 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2780 GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 umls:C0009398 Color Vision Defects 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2941 GSTA4 glutathione S-transferase alpha 4 umls:C0030567 Parkinson Disease 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 2944 GSTM1 glutathione S-transferase mu 1 umls:C0025500 Mesothelioma 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3283 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 umls:C0032460 Polycystic Ovary Syndrome 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3481 IGF2 insulin-like growth factor 2 umls:C0030567 Parkinson Disease 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3482 IGF2R insulin-like growth factor 2 receptor umls:C0002395 Alzheimer Disease 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3569 IL6 interleukin 6 umls:C0007117 Carcinoma, Basal Cell 0.214839644584077 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3570 IL6R interleukin 6 receptor umls:C0036341 Schizophrenia 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3630 INS insulin umls:C0030567 Parkinson Disease 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3753 KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 umls:C0018781 Hearing Loss, Noise-Induced 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0005695 Urinary Bladder Neoplasms 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0027626 Neoplasm Invasiveness 0.214839644584077 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0037286 Skin Neoplasms 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 4868 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) umls:C0033687 Proteinuria 0.214839644584077 5 AlteredExpression, Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0027889 Hereditary Sensory and Autonomic Neuropathies 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5443 POMC proopiomelanocortin umls:C3714514 Infection 0.214839644584077 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0021368 Inflammation 0.214839644584077 3 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 10544 PROCR protein C receptor, endothelial umls:C0021368 Inflammation 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0004352 Autistic Disorder 0.214839644584077 1 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 5925 RB1 retinoblastoma 1 umls:C0030297 Pancreatic Neoplasms 0.214839644584077 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 56729 RETN resistin umls:C0022661 Kidney Failure, Chronic 0.214839644584077 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 51156 SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 umls:C0042487 Venous Thrombosis 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0040053 Thrombosis 0.214839644584077 6 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 4089 SMAD4 SMAD family member 4 umls:C0038356 Stomach Neoplasms 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0006118 Brain Neoplasms 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0038356 Stomach Neoplasms 0.214839644584077 4 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6690 SPINK1 serine peptidase inhibitor, Kazal type 1 umls:C0030297 Pancreatic Neoplasms 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6716 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) umls:C0014170 Endometrial Neoplasms 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6770 STAR steroidogenic acute regulatory protein umls:C0014170 Endometrial Neoplasms 0.214839644584077 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 219736 STOX1 storkhead box 1 umls:C0032914 Pre-Eclampsia 0.214839644584077 2 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 6817 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 umls:C0033578 Prostatic Neoplasms 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7056 THBD thrombomodulin umls:C0040053 Thrombosis 0.214839644584077 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7124 TNF tumor necrosis factor umls:C0040053 Thrombosis 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0027651 Neoplasms 0.214839644584077 3 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0021368 Inflammation 0.214839644584077 3 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD, LHGDN 7139 TNNT2 troponin T type 2 (cardiac) umls:C0018800 Cardiomegaly 0.214839644584077 3 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0007273 Carotid Artery Diseases 0.214839644584077 2 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7157 TP53 tumor protein p53 umls:C0016978 Gallbladder Neoplasms 0.214839644584077 4 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 54822 TRPM7 transient receptor potential cation channel, subfamily M, member 7 umls:C0001430 Adenoma 0.214839644584077 1 Biomarker, GeneticVariation CTD_human, GAD, LHGDN 7298 TYMS thymidylate synthetase umls:C0030297 Pancreatic Neoplasms 0.214839644584077 3 AlteredExpression, Biomarker, GeneticVariation CTD_human, GAD, LHGDN 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.214819577691592 17 Biomarker, GeneticVariation BeFree, CTD_human 595 CCND1 cyclin D1 umls:C2931822 Nasopharyngeal carcinoma 0.214819577691592 18 Biomarker, GeneticVariation BeFree, CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.214819577691592 18 Biomarker, GeneticVariation BeFree, CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0022116 Ischemia 0.214819577691592 19 Biomarker, Therapeutic BeFree, CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0020615 Hypoglycemia 0.214819577691592 17 Biomarker BeFree, CTD_human 3938 LCT lactase umls:C0268181 Lactose Intolerance, Adult Type 0.214819577691592 17 Biomarker, GeneticVariation BeFree, CTD_human 406950 MIR16-1 microRNA 16-1 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.214819577691592 17 Biomarker BeFree, CTD_human 4830 NME1 NME/NM23 nucleoside diphosphate kinase 1 umls:C2239176 Carcinoma, Hepatocellular 0.214819577691592 18 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0001231 ACTH Syndrome, Ectopic 0.214819577691592 21 Biomarker BeFree, CTD_human 6121 RPE65 retinal pigment epithelium-specific protein 65kDa umls:C0854723 Retinal Dystrophies 0.214819577691592 18 Biomarker, GeneticVariation BeFree, CTD_human 7253 TSHR thyroid stimulating hormone receptor umls:C0001430 Adenoma 0.214819577691592 18 Biomarker, GeneticVariation BeFree, CTD_human 598 BCL2L1 BCL2-like 1 umls:C0007097 Carcinoma 0.214790613625479 10 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 80184 CEP290 centrosomal protein 290kDa umls:C0752166 Bardet-Biedl Syndrome 0.214790613625479 8 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2213 FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) umls:C0004364 Autoimmune Diseases 0.214790613625479 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2582 GALE UDP-galactose-4-epimerase umls:C0016952 Galactosemias 0.214790613625479 8 Biomarker BeFree, CTD_human, LHGDN 3090 HIC1 hypermethylated in cancer 1 umls:C0025149 Medulloblastoma 0.214790613625479 8 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 11141 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 umls:C1136249 Mental Retardation, X-Linked 0.214790613625479 9 Biomarker BeFree, CTD_human, LHGDN 64324 NSD1 nuclear receptor binding SET domain protein 1 umls:C0023467 Leukemia, Myeloid, Acute 0.214790613625479 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5879 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) umls:C0025202 Melanoma 0.214790613625479 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1636 ACE angiotensin I converting enzyme umls:C0021295 Infant, Premature, Diseases 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 154 ADRB2 adrenoceptor beta 2, surface umls:C0020473 Hyperlipidemias 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 324 APC adenomatous polyposis coli umls:C0024667 Mammary Neoplasms, Animal 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 80832 APOL4 apolipoprotein L, 4 umls:C0036341 Schizophrenia 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 367 AR androgen receptor umls:C0021361 Infertility, Female 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 60468 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 umls:C0007570 Celiac Disease 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 590 BCHE butyrylcholinesterase umls:C0700359 Organophosphate Poisoning 0.214634135038695 8 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD 627 BDNF brain-derived neurotrophic factor umls:C0236733 Amphetamine-Related Disorders 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 635 BHMT betaine--homocysteine S-methyltransferase umls:C0027794 Neural Tube Defects 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 23743 BHMT2 betaine--homocysteine S-methyltransferase 2 umls:C0008924 Cleft Lip 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 23743 BHMT2 betaine--homocysteine S-methyltransferase 2 umls:C0008925 Cleft Palate 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0021368 Inflammation 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 1234 CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) umls:C0043124 West Nile Fever 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 1235 CCR6 chemokine (C-C motif) receptor 6 umls:C0042900 Vitiligo 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 945 CD33 CD33 molecule umls:C0002395 Alzheimer Disease 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 969 CD69 CD69 molecule umls:C0011854 Diabetes Mellitus, Type 1 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0079487 Helicobacter Infections 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 1008 CDH10 cadherin 10, type 2 (T2-cadherin) umls:C0004352 Autistic Disorder 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 1301 COL11A1 collagen, type XI, alpha 1 umls:C0021818 Intervertebral Disc Displacement 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 1395 CRHR2 corticotropin releasing hormone receptor 2 umls:C0021368 Inflammation 0.214634135038695 3 GeneticVariation, Therapeutic CTD_human, GAD 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0021361 Infertility, Female 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0040336 Tobacco Use Disorder 0.214634135038695 5 Biomarker, GeneticVariation CTD_human, GAD 1557 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 umls:C0860207 Drug-Induced Liver Injury 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0236733 Amphetamine-Related Disorders 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 1813 DRD2 dopamine receptor D2 umls:C0004782 Basal Ganglia Diseases 0.214634135038695 7 Biomarker, GeneticVariation CTD_human, GAD 1814 DRD3 dopamine receptor D3 umls:C0236736 Cocaine-Related Disorders 0.214634135038695 7 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD 1814 DRD3 dopamine receptor D3 umls:C0021122 Impulse Control Disorders 0.214634135038695 5 Biomarker, GeneticVariation CTD_human, GAD 2099 ESR1 estrogen receptor 1 umls:C0021361 Infertility, Female 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 2099 ESR1 estrogen receptor 1 umls:C0028960 Oligospermia 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 2161 F12 coagulation factor XII (Hageman factor) umls:C0020538 Hypertension 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 2166 FAAH fatty acid amide hydrolase umls:C0038587 Substance Withdrawal Syndrome 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 2356 FPGS folylpolyglutamate synthase umls:C0024305 Lymphoma, Non-Hodgkin 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 8322 FZD4 frizzled class receptor 4 umls:C0035309 Retinal Diseases 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 2812 GP1BB glycoprotein Ib (platelet), beta polypeptide umls:C0040034 Thrombocytopenia 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 2931 GSK3A glycogen synthase kinase 3 alpha umls:C0036341 Schizophrenia 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 2944 GSTM1 glutathione S-transferase mu 1 umls:C0236733 Amphetamine-Related Disorders 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 2944 GSTM1 glutathione S-transferase mu 1 umls:C0085183 Neoplasms, Second Primary 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 2952 GSTT1 glutathione S-transferase theta 1 umls:C0236733 Amphetamine-Related Disorders 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0020517 Hypersensitivity 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0005138 Berylliosis 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 3483 IGFALS insulin-like growth factor binding protein, acid labile subunit umls:C0018273 Growth Disorders 0.214634135038695 4 Biomarker, GeneticVariation CTD_human, GAD 3586 IL10 interleukin 10 umls:C0006434 Burns 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 3592 IL12A interleukin 12A umls:C0023903 Liver Neoplasms 0.214634135038695 3 GeneticVariation, Therapeutic CTD_human, GAD 3606 IL18 interleukin 18 umls:C0020523 Hypersensitivity, Immediate 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 8807 IL18RAP interleukin 18 receptor accessory protein umls:C0021390 Inflammatory Bowel Diseases 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 3553 IL1B interleukin 1, beta umls:C0006434 Burns 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 3565 IL4 interleukin 4 umls:C0013182 Drug Hypersensitivity 0.214634135038695 4 Biomarker, GeneticVariation CTD_human, GAD 3565 IL4 interleukin 4 umls:C0860207 Drug-Induced Liver Injury 0.214634135038695 4 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD 3569 IL6 interleukin 6 umls:C0000786 Abortion, Spontaneous 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 3569 IL6 interleukin 6 umls:C0020517 Hypersensitivity 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 3569 IL6 interleukin 6 umls:C0007772 Intracranial Arteriovenous Malformations 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 51141 INSIG2 insulin induced gene 2 umls:C0043094 Weight Gain 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 3674 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) umls:C0040034 Thrombocytopenia 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 4254 KITLG KIT ligand umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0026640 Mouth Neoplasms 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 3972 LHB luteinizing hormone beta polypeptide umls:C0021361 Infertility, Female 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 22853 LMTK2 lemur tyrosine kinase 2 umls:C0033578 Prostatic Neoplasms 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 79694 MANEA mannosidase, endo-alpha umls:C0236736 Cocaine-Related Disorders 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 4353 MPO myeloperoxidase umls:C0028797 Occupational Diseases 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 4522 MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase umls:C0000832 Abruptio Placentae 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0333355 Mucositis 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0037274 Skin Diseases 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0007786 Brain Ischemia 0.214634135038695 4 Biomarker, GeneticVariation CTD_human, GAD 7827 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) umls:C0001925 Albuminuria 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0028797 Occupational Diseases 0.214634135038695 6 Biomarker, GeneticVariation CTD_human, GAD 4985 OPRD1 opioid receptor, delta 1 umls:C0236969 Substance-Related Disorders 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 10133 OPTN optineurin umls:C0029401 Osteitis Deformans 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 79728 PALB2 partner and localizer of BRCA2 umls:C0030297 Pancreatic Neoplasms 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 221692 PHACTR1 phosphatase and actin regulator 1 umls:C0027051 Myocardial Infarction 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 8398 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) umls:C0027960 Nevus 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0001828 Agricultural Workers' Diseases 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0021655 Insulin Resistance 0.214634135038695 4 GeneticVariation, Therapeutic CTD_human, GAD 25780 RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated) umls:C0024141 Lupus Erythematosus, Systemic 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 3516 RBPJ recombination signal binding protein for immunoglobulin kappa J region umls:C0003873 Arthritis, Rheumatoid 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 6447 SCG5 secretogranin V (7B2 protein) umls:C0009404 Colorectal Neoplasms 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 6401 SELE selectin E umls:C0007786 Brain Ischemia 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0009404 Colorectal Neoplasms 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C0008925 Cleft Palate 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 6522 SLC4A2 solute carrier family 4 (anion exchanger), member 2 umls:C0023892 Liver Cirrhosis, Biliary 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0236736 Cocaine-Related Disorders 0.214634135038695 6 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0016059 Fibrosis 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 6689 SPIB Spi-B transcription factor (Spi-1/PU.1 related) umls:C0023892 Liver Cirrhosis, Biliary 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 200734 SPRED2 sprouty-related, EVH1 domain containing 2 umls:C0003873 Arthritis, Rheumatoid 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 6817 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 umls:C0042076 Urologic Neoplasms 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 10460 TACC3 transforming, acidic coiled-coil containing protein 3 umls:C0005695 Urinary Bladder Neoplasms 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0042109 Urticaria 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0014859 Esophageal Neoplasms 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0013182 Drug Hypersensitivity 0.214634135038695 4 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0221204 Osteolysis 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 7139 TNNT2 troponin T type 2 (cardiac) umls:C0085298 Death, Sudden, Cardiac 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 7157 TP53 tumor protein p53 umls:C0021361 Infertility, Female 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 7157 TP53 tumor protein p53 umls:C0030849 Penile Neoplasms 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 8626 TP63 tumor protein p63 umls:C0024121 Lung Neoplasms 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0026769 Multiple Sclerosis 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 7422 VEGFA vascular endothelial growth factor A umls:C0018671 Head and Neck Neoplasms 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 55759 WDR12 WD repeat domain 12 umls:C1956346 Coronary Artery Disease 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 55759 WDR12 WD repeat domain 12 umls:C0027051 Myocardial Infarction 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 7512 XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound umls:C0002994 Angioedema 0.214634135038695 2 Biomarker, GeneticVariation CTD_human, GAD 7515 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 umls:C0028797 Occupational Diseases 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 463 ZFHX3 zinc finger homeobox 3 umls:C0004238 Atrial Fibrillation 0.214634135038695 3 Biomarker, GeneticVariation CTD_human, GAD 590 BCHE butyrylcholinesterase umls:C0028754 Obesity 0.214585104080097 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0524620 Metabolic Syndrome X 0.214585104080097 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0009324 Colitis, Ulcerative 0.214585104080097 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C2584620 Thrombophilia, hereditary 0.214585104080097 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2661 GDF9 growth differentiation factor 9 umls:C0032460 Polycystic Ovary Syndrome 0.214585104080097 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0005695 Urinary Bladder Neoplasms 0.214585104080097 12 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3558 IL2 interleukin 2 umls:C0023903 Liver Neoplasms 0.214585104080097 10 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3643 INSR insulin receptor umls:C0271650 Glucose Intolerance 0.214585104080097 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0004352 Autistic Disorder 0.214585104080097 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 133522 PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta umls:C0028754 Obesity 0.214585104080097 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0037274 Skin Diseases 0.214585104080097 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0279626 Esophageal Squamous Cell Carcinoma 0.214536073121499 16 Biomarker, GeneticVariation BeFree, CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0003486 Aortic Aneurysm 0.214536073121499 17 Biomarker BeFree, CTD_human 79058 ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 umls:C0206657 Sarcoma, Alveolar Soft Part 0.214536073121499 16 Biomarker, GeneticVariation BeFree, CTD_human 478 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide umls:C0338488 Alternating hemiplegia of childhood 0.214536073121499 16 Biomarker, GeneticVariation BeFree, CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0279628 Adenocarcinoma Of Esophagus 0.214536073121499 17 Biomarker, GeneticVariation BeFree, CTD_human 1741 DLG3 discs, large homolog 3 (Drosophila) umls:C1136249 Mental Retardation, X-Linked 0.214536073121499 16 Biomarker BeFree, CTD_human 2188 FANCF Fanconi anemia, complementation group F umls:C0015625 Fanconi Anemia 0.214536073121499 16 Biomarker BeFree, CTD_human 2624 GATA2 GATA binding protein 2 umls:C0023467 Leukemia, Myeloid, Acute 0.214536073121499 16 Biomarker, GeneticVariation BeFree, CTD_human 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0022568 Keratitis 0.214536073121499 16 Biomarker, GeneticVariation BeFree, CTD_human 2767 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) umls:C0220633 Uveal melanoma 0.214536073121499 17 Biomarker BeFree, CTD_human 80025 PANK2 pantothenate kinase 2 umls:C2931845 Neurodegeneration with brain iron accumulation (NBIA) 0.214536073121499 16 Biomarker BeFree, CTD_human 57096 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 umls:C0339527 Leber Congenital Amaurosis 0.214536073121499 16 Biomarker, GeneticVariation BeFree, CTD_human 140821 RSS Russell Silver syndrome umls:C0175693 Silver-Russell Syndrome 0.214536073121499 16 Biomarker BeFree, CTD_human 6657 SOX2 SRY (sex determining region Y)-box 2 umls:C0007137 Carcinoma, Squamous Cell 0.214536073121499 16 Biomarker BeFree, CTD_human 598 BCL2L1 BCL2-like 1 umls:C0026764 Multiple Myeloma 0.214507109055385 9 Biomarker BeFree, CTD_human, LHGDN 1051 CEBPB CCAAT/enhancer binding protein (C/EBP), beta umls:C2239176 Carcinoma, Hepatocellular 0.214507109055385 8 Biomarker BeFree, CTD_human, LHGDN 27185 DISC1 disrupted in schizophrenia 1 umls:C0004352 Autistic Disorder 0.214507109055385 7 Biomarker BeFree, CTD_human, LHGDN 2520 GAST gastrin umls:C0001418 Adenocarcinoma 0.214507109055385 9 Biomarker BeFree, CTD_human, LHGDN 2752 GLUL glutamate-ammonia ligase umls:C2239176 Carcinoma, Hepatocellular 0.214507109055385 9 Biomarker BeFree, CTD_human, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0282612 Prostatic Intraepithelial Neoplasia 0.214507109055385 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3586 IL10 interleukin 10 umls:C0023290 Leishmaniasis, Visceral 0.214507109055385 9 Biomarker BeFree, CTD_human, LHGDN 3596 IL13 interleukin 13 umls:C0032285 Pneumonia 0.214507109055385 9 Biomarker BeFree, CTD_human, LHGDN 4292 MLH1 mutL homolog 1 umls:C0024299 Lymphoma 0.214507109055385 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0334634 Lymphoma, Mantle-Cell 0.214507109055385 7 Biomarker BeFree, CTD_human, LHGDN 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0751336 Distal Myopathies 0.214507109055385 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4763 NF1 neurofibromin 1 umls:C0004114 Astrocytoma 0.214507109055385 10 Biomarker BeFree, CTD_human, LHGDN 5444 PON1 paraoxonase 1 umls:C0020445 Hyperlipoproteinemia Type II 0.214507109055385 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0007097 Carcinoma 0.214507109055385 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 57096 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 umls:C0035334 Retinitis Pigmentosa 0.214507109055385 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C2239176 Carcinoma, Hepatocellular 0.214507109055385 9 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6720 SREBF1 sterol regulatory element binding transcription factor 1 umls:C2239176 Carcinoma, Hepatocellular 0.214507109055385 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 10537 UBD ubiquitin D umls:C2239176 Carcinoma, Hepatocellular 0.214507109055385 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1441 CSF3R colony stimulating factor 3 receptor (granulocyte) umls:C1853118 Neutropenia, Severe Congenital, Autosomal Recessive 3 0.214458733074777 51 Biomarker, GeneticVariation BeFree, CLINVAR 10878 CFHR3 complement factor H-related 3 umls:C2931788 Atypical Hemolytic Uremic Syndrome 0.214301599510003 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3426 CFI complement factor I umls:C2931788 Atypical Hemolytic Uremic Syndrome 0.214301599510003 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1149 CIDEA cell death-inducing DFFA-like effector a umls:C0028754 Obesity 0.214301599510003 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1906 EDN1 endothelin 1 umls:C0022658 Kidney Diseases 0.214301599510003 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9734 HDAC9 histone deacetylase 9 umls:C0038454 Stroke 0.214301599510003 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3458 IFNG interferon, gamma umls:C0023283 Leishmaniasis, Cutaneous 0.214301599510003 10 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3586 IL10 interleukin 10 umls:C0023283 Leishmaniasis, Cutaneous 0.214301599510003 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3553 IL1B interleukin 1, beta umls:C0037274 Skin Diseases 0.214301599510003 10 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3557 IL1RN interleukin 1 receptor antagonist umls:C0022658 Kidney Diseases 0.214301599510003 8 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3558 IL2 interleukin 2 umls:C0027651 Neoplasms 0.214301599510003 9 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 4160 MC4R melanocortin 4 receptor umls:C0020459 Hyperinsulinism 0.214301599510003 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0007137 Carcinoma, Squamous Cell 0.214301599510003 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4792 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha umls:C2239176 Carcinoma, Hepatocellular 0.214301599510003 8 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 4868 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) umls:C0017668 Glomerulosclerosis, Focal Segmental 0.214301599510003 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0019693 HIV Infections 0.214301599510003 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C0013902 Elliptocytosis, Hereditary 0.214301599510003 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6272 SORT1 sortilin 1 umls:C1956346 Coronary Artery Disease 0.214301599510003 9 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5079 PAX5 paired box 5 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.214252568551405 16 Biomarker, GeneticVariation BeFree, UNIPROT 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0376545 Hematologic Neoplasms 0.214252568551405 16 Biomarker BeFree, CTD_human 335 APOA1 apolipoprotein A-I umls:C2239176 Carcinoma, Hepatocellular 0.214252568551405 16 AlteredExpression, Biomarker BeFree, CTD_human 8314 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) umls:C0220633 Uveal melanoma 0.214252568551405 15 Biomarker BeFree, CTD_human 64109 CRLF2 cytokine receptor-like factor 2 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.214252568551405 15 AlteredExpression, Biomarker BeFree, CTD_human 1714 DGCR DiGeorge syndrome chromosome region umls:C0012236 DiGeorge Syndrome 0.214252568551405 15 Biomarker BeFree, CTD_human 3239 HOXD13 homeobox D13 umls:C0206762 Limb Deformities, Congenital 0.214252568551405 16 Biomarker, GeneticVariation BeFree, CTD_human 3378 IBD2 inflammatory bowel disease 2 umls:C0021390 Inflammatory Bowel Diseases 0.214252568551405 15 Biomarker, GeneticVariation BeFree, CTD_human 3600 IL15 interleukin 15 umls:C0007570 Celiac Disease 0.214252568551405 15 Biomarker BeFree, CTD_human 3553 IL1B interleukin 1, beta umls:C0017636 Glioblastoma 0.214252568551405 16 Biomarker BeFree, CTD_human 4781 NFIB nuclear factor I/B umls:C0010606 Carcinoma, Adenoid Cystic 0.214252568551405 16 Biomarker BeFree, CTD_human 5538 PPT1 palmitoyl-protein thioesterase 1 umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.214252568551405 17 Biomarker BeFree, CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0023903 Liver Neoplasms 0.214252568551405 16 Biomarker, Therapeutic BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0085109 Corneal Neovascularization 0.214252568551405 16 Biomarker BeFree, CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0272187 Congenital leukocyte adherence deficiency 0.214224259463282 43 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 1636 ACE angiotensin I converting enzyme umls:C2239176 Carcinoma, Hepatocellular 0.214223604485291 8 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 157 ADRBK2 adrenergic, beta, receptor kinase 2 umls:C0005586 Bipolar Disorder 0.214223604485291 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0020540 Hypertension, Malignant 0.214223604485291 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 374 AREG amphiregulin umls:C0004096 Asthma 0.214223604485291 6 Biomarker BeFree, CTD_human, LHGDN 478 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide umls:C0242422 Parkinsonian Disorders 0.214223604485291 6 Biomarker BeFree, CTD_human, LHGDN 1191 CLU clusterin umls:C0024141 Lupus Erythematosus, Systemic 0.214223604485291 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0017168 Gastroesophageal Reflux 0.214223604485291 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1993 ELAVL2 ELAV like neuron-specific RNA binding protein 2 umls:C0149925 Small Cell Lung Carcinoma 0.214223604485291 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 11009 IL24 interleukin 24 umls:C0024121 Lung Neoplasms 0.214223604485291 9 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3717 JAK2 Janus kinase 2 umls:C0040038 Thromboembolism 0.214223604485291 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C0014175 Endometriosis 0.214223604485291 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8575 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator umls:C0013421 Dystonia 0.214223604485291 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0007194 Cardiomyopathy, Hypertrophic 0.214223604485291 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0025149 Medulloblastoma 0.214223604485291 7 Biomarker BeFree, CTD_human, LHGDN 7980 TFPI2 tissue factor pathway inhibitor 2 umls:C2239176 Carcinoma, Hepatocellular 0.214223604485291 6 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 22954 TRIM32 tripartite motif containing 32 umls:C0752166 Bardet-Biedl Syndrome 0.214223604485291 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7422 VEGFA vascular endothelial growth factor A umls:C0035412 Rhabdomyosarcoma 0.214223604485291 6 Biomarker BeFree, CTD_human, LHGDN 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0020302 Hydrophthalmos 0.214038816810384 27 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 25978 CHMP2B charged multivesicular body protein 2B umls:C0002736 Amyotrophic Lateral Sclerosis 0.21401809493991 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 81037 CLPTM1L CLPTM1-like umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21401809493991 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1471 CST3 cystatin C umls:C0007222 Cardiovascular Diseases 0.21401809493991 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 345611 IRGM immunity-related GTPase family, M umls:C0009324 Colitis, Ulcerative 0.21401809493991 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0152013 Adenocarcinoma of lung 0.21401809493991 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C0010481 Cushing Syndrome 0.21401809493991 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8575 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator umls:C0393593 Dystonic Disorders 0.21401809493991 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5649 RELN reelin umls:C0005586 Bipolar Disorder 0.21401809493991 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7157 TP53 tumor protein p53 umls:C0206681 Adenocarcinoma, Clear Cell 0.21401809493991 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 79054 TRPM8 transient receptor potential cation channel, subfamily M, member 8 umls:C0149931 Migraine Disorders 0.21401809493991 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0220658 PFEIFFER SYNDROME 0.213969063981311 14 Biomarker, GeneticVariation BeFree, UNIPROT 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0684249 Carcinoma of lung 0.213969063981311 14 Biomarker, GeneticVariation BeFree, UNIPROT 57007 ACKR3 atypical chemokine receptor 3 umls:C0027627 Neoplasm Metastasis 0.213969063981311 14 Biomarker BeFree, CTD_human 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0027627 Neoplasm Metastasis 0.213969063981311 16 Biomarker BeFree, CTD_human 79092 CARD14 caspase recruitment domain family, member 14 umls:C0033860 Psoriasis 0.213969063981311 15 Biomarker, GeneticVariation BeFree, CTD_human 1406 CRX cone-rod homeobox umls:C0339527 Leber Congenital Amaurosis 0.213969063981311 15 Biomarker, GeneticVariation BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0007097 Carcinoma 0.213969063981311 15 Biomarker, Therapeutic BeFree, CTD_human 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0007134 Carcinoma, Renal Cell 0.213969063981311 14 Biomarker BeFree, CTD_human 2688 GH1 growth hormone 1 umls:C0346302 Growth Hormone-Secreting Pituitary Adenoma 0.213969063981311 16 Biomarker BeFree, CTD_human 3630 INS insulin umls:C0011880 Diabetic Ketoacidosis 0.213969063981311 15 Biomarker, Therapeutic BeFree, CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C1275081 Cardiofaciocutaneous syndrome 0.213969063981311 15 Biomarker BeFree, CTD_human 4163 MCC mutated in colorectal cancers umls:C0032580 Adenomatous Polyposis Coli 0.213969063981311 15 Biomarker, GeneticVariation BeFree, CTD_human 406928 MIR137 microRNA 137 umls:C0036341 Schizophrenia 0.213969063981311 14 Biomarker, GeneticVariation BeFree, CTD_human 8031 NCOA4 nuclear receptor coactivator 4 umls:C0238463 Thyroid cancer, papillary 0.213969063981311 14 Biomarker, GeneticVariation BeFree, CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C2931822 Nasopharyngeal carcinoma 0.213969063981311 15 Biomarker BeFree, CTD_human 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C0270962 Minicore Myopathy with External Ophthalmoplegia 0.213969063981311 14 Biomarker, GeneticVariation BeFree, CTD_human 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C2931401 Long QT syndrome type 3 0.213969063981311 15 Biomarker BeFree, CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0036572 Seizures 0.213969063981311 17 Biomarker BeFree, CTD_human 859 CAV3 caveolin 3 umls:C0038644 Sudden Infant Death 0.213940099915198 5 Biomarker, GeneticVariation BeFree, LHGDN, UNIPROT 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0018799 Heart Diseases 0.213940099915198 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 274 BIN1 bridging integrator 1 umls:C0752282 Myopathies, Structural, Congenital 0.213940099915198 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0010068 Coronary Disease 0.213940099915198 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0206727 Nerve Sheath Neoplasms 0.213940099915198 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 317782 CELIAC2 celiac disease 2 umls:C0007570 Celiac Disease 0.213940099915198 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1356 CP ceruloplasmin (ferroxidase) umls:C0011849 Diabetes Mellitus 0.213940099915198 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1436 CSF1R colony stimulating factor 1 receptor umls:C0027627 Neoplasm Metastasis 0.213940099915198 7 Biomarker BeFree, CTD_human, LHGDN 1612 DAPK1 death-associated protein kinase 1 umls:C0007134 Carcinoma, Renal Cell 0.213940099915198 5 Biomarker BeFree, CTD_human, LHGDN 1612 DAPK1 death-associated protein kinase 1 umls:C0023467 Leukemia, Myeloid, Acute 0.213940099915198 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0025149 Medulloblastoma 0.213940099915198 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2187 FANCB Fanconi anemia, complementation group B umls:C0015625 Fanconi Anemia 0.213940099915198 5 Biomarker BeFree, CTD_human, LHGDN 2321 FLT1 fms-related tyrosine kinase 1 umls:C0007134 Carcinoma, Renal Cell 0.213940099915198 7 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 9518 GDF15 growth differentiation factor 15 umls:C0025202 Melanoma 0.213940099915198 6 Biomarker BeFree, CTD_human, LHGDN 2668 GDNF glial cell derived neurotrophic factor umls:C0524851 Neurodegenerative Diseases 0.213940099915198 6 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 2898 GRIK2 glutamate receptor, ionotropic, kainate 2 umls:C0036341 Schizophrenia 0.213940099915198 6 Biomarker BeFree, CTD_human, LHGDN 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0004114 Astrocytoma 0.213940099915198 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3313 HSPA9 heat shock 70kDa protein 9 (mortalin) umls:C2239176 Carcinoma, Hepatocellular 0.213940099915198 6 Biomarker BeFree, CTD_human, LHGDN 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0034069 Pulmonary Fibrosis 0.213940099915198 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3484 IGFBP1 insulin-like growth factor binding protein 1 umls:C0014175 Endometriosis 0.213940099915198 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3574 IL7 interleukin 7 umls:C0024312 Lymphopenia 0.213940099915198 7 Biomarker BeFree, CTD_human, LHGDN 4353 MPO myeloperoxidase umls:C0024115 Lung Diseases 0.213940099915198 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 9971 NR1H4 nuclear receptor subfamily 1, group H, member 4 umls:C0008370 Cholestasis 0.213940099915198 8 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 84628 NTNG2 netrin G2 umls:C0036341 Schizophrenia 0.213940099915198 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.213940099915198 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0024115 Lung Diseases 0.213940099915198 7 Biomarker BeFree, CTD_human, LHGDN 5909 RAP1GAP RAP1 GTPase activating protein umls:C0025202 Melanoma 0.213940099915198 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0009324 Colitis, Ulcerative 0.213940099915198 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6448 SGSH N-sulfoglucosamine sulfohydrolase umls:C0026706 Mucopolysaccharidosis III 0.213940099915198 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 23411 SIRT1 sirtuin 1 umls:C1458155 Breast Neoplasms 0.213940099915198 7 Biomarker BeFree, CTD_human, LHGDN 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C1458155 Breast Neoplasms 0.213940099915198 7 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8831 SYNGAP1 synaptic Ras GTPase activating protein 1 umls:C3714756 Intellectual Disability 0.213940099915198 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6999 TDO2 tryptophan 2,3-dioxygenase umls:C0004352 Autistic Disorder 0.213940099915198 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0020445 Hyperlipoproteinemia Type II 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0017658 Glomerulonephritis 0.213734590369816 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 114902 C1QTNF5 C1q and tumor necrosis factor related protein 5 umls:C0242383 Macular Degeneration 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1278 COL1A2 collagen, type I, alpha 2 umls:C0029456 Osteoporosis 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1375 CPT1B carnitine palmitoyltransferase 1B (muscle) umls:C0027404 Narcolepsy 0.213734590369816 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1520 CTSS cathepsin S umls:C0028754 Obesity 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0020538 Hypertension 0.213734590369816 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1867 DYX1 dyslexia susceptibility 1 umls:C0476254 Dyslexia 0.213734590369816 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2099 ESR1 estrogen receptor 1 umls:C0023903 Liver Neoplasms 0.213734590369816 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2213 FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) umls:C0024530 Malaria 0.213734590369816 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2571 GAD1 glutamate decarboxylase 1 (brain, 67kDa) umls:C0004352 Autistic Disorder 0.213734590369816 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3106 HLA-B major histocompatibility complex, class I, B umls:C0015230 Exanthema 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3240 HP haptoglobin umls:C0011875 Diabetic Angiopathies 0.213734590369816 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3358 HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled umls:C0524620 Metabolic Syndrome X 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 50615 IL21R interleukin 21 receptor umls:C0024141 Lupus Erythematosus, Systemic 0.213734590369816 6 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0037274 Skin Diseases 0.213734590369816 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4035 LRP1 low density lipoprotein receptor-related protein 1 umls:C0149931 Migraine Disorders 0.213734590369816 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4353 MPO myeloperoxidase umls:C0022658 Kidney Diseases 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0018801 Heart Failure 0.213734590369816 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3084 NRG1 neuregulin 1 umls:C0019569 Hirschsprung Disease 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10891 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha umls:C0018801 Heart Failure 0.213734590369816 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 63976 PRDM16 PR domain containing 16 umls:C0149931 Migraine Disorders 0.213734590369816 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0002736 Amyotrophic Lateral Sclerosis 0.213734590369816 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5966 REL v-rel avian reticuloendotheliosis viral oncogene homolog umls:C0033860 Psoriasis 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0019693 HIV Infections 0.213734590369816 6 AlteredExpression, Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0003469 Anxiety Disorders 0.213734590369816 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23216 TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 umls:C0028754 Obesity 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0027059 Myocarditis 0.213734590369816 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7172 TPMT thiopurine S-methyltransferase umls:C0027947 Neutropenia 0.213734590369816 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 213 ALB albumin umls:C0023890 Liver Cirrhosis 0.213685559411218 14 Biomarker BeFree, CTD_human 260328 ALRH Allergic rhinitis umls:C2607914 Rhinitis, Allergic 0.213685559411218 13 Biomarker BeFree, CTD_human 100188832 AUTS1 Autism, susceptibility to, 1 umls:C0004352 Autistic Disorder 0.213685559411218 13 Biomarker BeFree, CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0036572 Seizures 0.213685559411218 16 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.213685559411218 14 Biomarker BeFree, CTD_human 2335 FN1 fibronectin 1 umls:C0011849 Diabetes Mellitus 0.213685559411218 14 Biomarker BeFree, CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0027627 Neoplasm Metastasis 0.213685559411218 14 Biomarker BeFree, CTD_human 9817 KEAP1 kelch-like ECH-associated protein 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.213685559411218 13 Biomarker BeFree, CTD_human 9365 KL klotho umls:C0231341 Aging, Premature 0.213685559411218 14 Biomarker BeFree, CTD_human 3953 LEPR leptin receptor umls:C0497406 Overweight 0.213685559411218 14 Biomarker, GeneticVariation BeFree, CTD_human 4359 MPZ myelin protein zero umls:C0027888 Hereditary Sensory and Motor Neuropathy 0.213685559411218 13 Biomarker, GeneticVariation BeFree, CTD_human 378884 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 umls:C0751778 Myoclonic Epilepsies, Progressive 0.213685559411218 14 Biomarker BeFree, CTD_human 4852 NPY neuropeptide Y umls:C0011581 Depressive Disorder 0.213685559411218 14 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C0085215 Primary Ovarian Insufficiency 0.213685559411218 13 Biomarker, GeneticVariation BeFree, CTD_human 5324 PLAG1 pleiomorphic adenoma gene 1 umls:C1260965 Lipoblastoma 0.213685559411218 14 Biomarker, GeneticVariation BeFree, CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C2239176 Carcinoma, Hepatocellular 0.213685559411218 13 Biomarker, Therapeutic BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0345893 Juvenile polyposis syndrome 0.213685559411218 13 Biomarker BeFree, CTD_human 56606 SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 umls:C0473219 Renal hypouricemia 0.213685559411218 15 Biomarker, GeneticVariation BeFree, CTD_human 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C2239176 Carcinoma, Hepatocellular 0.213685559411218 14 Biomarker, Therapeutic BeFree, CTD_human 7157 TP53 tumor protein p53 umls:C0018923 Hemangiosarcoma 0.213685559411218 13 Biomarker BeFree, CTD_human 317 APAF1 apoptotic peptidase activating factor 1 umls:C0007134 Carcinoma, Renal Cell 0.213656595345104 4 Biomarker BeFree, CTD_human, LHGDN 367 AR androgen receptor umls:C0282612 Prostatic Intraepithelial Neoplasia 0.213656595345104 6 Biomarker BeFree, CTD_human, LHGDN 657 BMPR1A bone morphogenetic protein receptor, type IA umls:C0018553 Hamartoma Syndrome, Multiple 0.213656595345104 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 595 CCND1 cyclin D1 umls:C0020502 Hyperparathyroidism 0.213656595345104 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 915 CD3D CD3d molecule, delta (CD3-TCR complex) umls:C0085110 Severe Combined Immunodeficiency 0.213656595345104 6 Biomarker BeFree, CTD_human, LHGDN 1191 CLU clusterin umls:C0025202 Melanoma 0.213656595345104 4 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0014869 Esophagitis, Peptic 0.213656595345104 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1593 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 umls:C0004153 Atherosclerosis 0.213656595345104 5 Biomarker BeFree, CTD_human, LHGDN 1755 DMBT1 deleted in malignant brain tumors 1 umls:C0017638 Glioma 0.213656595345104 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 406874 DYX8 dyslexia susceptibility 8 umls:C0476254 Dyslexia 0.213656595345104 4 Biomarker BeFree, CTD_human, LHGDN 1906 EDN1 endothelin 1 umls:C0038525 Subarachnoid Hemorrhage 0.213656595345104 5 Biomarker BeFree, CTD_human, LHGDN 2099 ESR1 estrogen receptor 1 umls:C0024121 Lung Neoplasms 0.213656595345104 6 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 2194 FASN fatty acid synthase umls:C0027651 Neoplasms 0.213656595345104 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2243 FGA fibrinogen alpha chain umls:C0001733 Afibrinogenemia 0.213656595345104 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2678 GGT1 gamma-glutamyltransferase 1 umls:C0007097 Carcinoma 0.213656595345104 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 27232 GNMT glycine N-methyltransferase umls:C0023903 Liver Neoplasms 0.213656595345104 6 Biomarker BeFree, CTD_human, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0029463 Osteosarcoma 0.213656595345104 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3565 IL4 interleukin 4 umls:C0032285 Pneumonia 0.213656595345104 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3569 IL6 interleukin 6 umls:C0524851 Neurodegenerative Diseases 0.213656595345104 6 Biomarker BeFree, CTD_human, LHGDN 3630 INS insulin umls:C0033578 Prostatic Neoplasms 0.213656595345104 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 8242 KDM5C lysine (K)-specific demethylase 5C umls:C3714756 Intellectual Disability 0.213656595345104 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 406903 MIR10B microRNA 10b umls:C1458155 Breast Neoplasms 0.213656595345104 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 54903 MKS1 Meckel syndrome, type 1 umls:C0752166 Bardet-Biedl Syndrome 0.213656595345104 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0919267 Ovarian Neoplasms 0.213656595345104 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4629 MYH11 myosin, heavy chain 11, smooth muscle umls:C0023479 Leukemia, Myelomonocytic, Acute 0.213656595345104 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8021 NUP214 nucleoporin 214kDa umls:C0023467 Leukemia, Myeloid, Acute 0.213656595345104 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 9409 PEX16 peroxisomal biogenesis factor 16 umls:C0043459 Zellweger Syndrome 0.213656595345104 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 10908 PNPLA6 patatin-like phospholipase domain containing 6 umls:C0085084 Motor Neuron Disease 0.213656595345104 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0011615 Dermatitis, Atopic 0.213656595345104 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5879 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) umls:C2239176 Carcinoma, Hepatocellular 0.213656595345104 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 85358 SHANK3 SH3 and multiple ankyrin repeat domains 3 umls:C3714756 Intellectual Disability 0.213656595345104 5 Biomarker BeFree, CTD_human, LHGDN 147912 SIX5 SIX homeobox 5 umls:C0265234 Branchio-Oto-Renal Syndrome 0.213656595345104 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0001973 Alcoholism 0.213656595345104 5 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6696 SPP1 secreted phosphoprotein 1 umls:C0001418 Adenocarcinoma 0.213656595345104 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6736 SRY sex determining region Y umls:C2748895 Ovotesticular Disorders of Sex Development 0.213656595345104 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6855 SYP synaptophysin umls:C0036341 Schizophrenia 0.213656595345104 6 Biomarker BeFree, CTD_human, LHGDN 7980 TFPI2 tissue factor pathway inhibitor 2 umls:C0025202 Melanoma 0.213656595345104 4 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 7037 TFRC transferrin receptor umls:C0005283 beta-Thalassemia 0.213656595345104 5 Biomarker BeFree, CTD_human, LHGDN 8600 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 umls:C0266929 Chronic Periodontitis 0.213656595345104 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 54209 TREM2 triggering receptor expressed on myeloid cells 2 umls:C0002395 Alzheimer Disease 0.213656595345104 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7249 TSC2 tuberous sclerosis 2 umls:C0004352 Autistic Disorder 0.213656595345104 6 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7490 WT1 Wilms tumor 1 umls:C0017636 Glioblastoma 0.213656595345104 5 Biomarker BeFree, CTD_human, LHGDN 4904 YBX1 Y box binding protein 1 umls:C1458155 Breast Neoplasms 0.213656595345104 6 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 28 ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) umls:C0013295 Duodenal Ulcer 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C1565489 Renal Insufficiency 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54806 AHI1 Abelson helper integration site 1 umls:C0004352 Autistic Disorder 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 324 APC adenomatous polyposis coli umls:C0021390 Inflammatory Bowel Diseases 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 721 C4B complement component 4B (Chido blood group) umls:C0004352 Autistic Disorder 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 55259 CASC1 cancer susceptibility candidate 1 umls:C0024121 Lung Neoplasms 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 595 CCND1 cyclin D1 umls:C0006118 Brain Neoplasms 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3075 CFH complement factor H umls:C0025303 Meningococcal Infections 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1120 CHKB choline kinase beta umls:C0027404 Narcolepsy 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1280 COL2A1 collagen, type II, alpha 1 umls:C0008925 Cleft Palate 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 29119 CTNNA3 catenin (cadherin-associated protein), alpha 3 umls:C0004096 Asthma 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1621 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) umls:C1456784 Paranoid Disorders 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1909 EDNRA endothelin receptor type A umls:C0149931 Migraine Disorders 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2099 ESR1 estrogen receptor 1 umls:C0023418 Leukemia 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase umls:C0238190 Myositis, Inclusion Body 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2917 GRM7 glutamate receptor, metabotropic 7 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2979 GUCA1B guanylate cyclase activator 1B (retina) umls:C0035334 Retinitis Pigmentosa 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3105 HLA-A major histocompatibility complex, class I, A umls:C0017638 Glioma 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0007138 Carcinoma, Transitional Cell 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3552 IL1A interleukin 1, alpha umls:C0037274 Skin Diseases 0.213451085799722 7 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3565 IL4 interleukin 4 umls:C0023283 Leishmaniasis, Cutaneous 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3654 IRAK1 interleukin-1 receptor-associated kinase 1 umls:C0003873 Arthritis, Rheumatoid 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23095 KIF1B kinesin family member 1B umls:C0026769 Multiple Sclerosis 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4000 LMNA lamin A/C umls:C0032460 Polycystic Ovary Syndrome 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4353 MPO myeloperoxidase umls:C2239176 Carcinoma, Hepatocellular 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0027627 Neoplasm Metastasis 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4763 NF1 neurofibromin 1 umls:C0004352 Autistic Disorder 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0085580 Hypertension, Essential 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4902 NRTN neurturin umls:C0019569 Hirschsprung Disease 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0004096 Asthma 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5111 PCNA proliferating cell nuclear antigen umls:C0006118 Brain Neoplasms 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 84547 PGBD1 piggyBac transposable element derived 1 umls:C0036341 Schizophrenia 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5467 PPARD peroxisome proliferator-activated receptor delta umls:C0015695 Fatty Liver 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5502 PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A umls:C0018801 Heart Failure 0.213451085799722 5 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 63870 PSORS5 psoriasis susceptibility 5 umls:C0033860 Psoriasis 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 63869 PSORS6 psoriasis susceptibility 6 umls:C0033860 Psoriasis 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5949 RBP3 retinol binding protein 3, interstitial umls:C0035334 Retinitis Pigmentosa 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8991 SELENBP1 selenium binding protein 1 umls:C0036341 Schizophrenia 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C0011854 Diabetes Mellitus, Type 1 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6647 SOD1 superoxide dismutase 1, soluble umls:C0017638 Glioma 0.213451085799722 6 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 64220 STRA6 stimulated by retinoic acid 6 umls:C0026010 Microphthalmos 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 412 STS steroid sulfatase (microsomal), isozyme S umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6869 TACR1 tachykinin receptor 1 umls:C0001973 Alcoholism 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0034067 Pulmonary Emphysema 0.213451085799722 5 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.213451085799722 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 146057 TTBK2 tau tubulin kinase 2 umls:C0087012 Spinocerebellar Ataxias 0.213451085799722 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7422 VEGFA vascular endothelial growth factor A umls:C0032927 Precancerous Conditions 0.213451085799722 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7450 VWF von Willebrand factor umls:C0020538 Hypertension 0.213451085799722 8 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10002 NR2E3 nuclear receptor subfamily 2, group E, member 3 umls:C0035334 Retinitis Pigmentosa 0.21341387953797 8 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 4508 ATP6 ATP synthase F0 subunit 6 umls:C1328349 Neuropathy ataxia and retinis pigmentosa 0.213402054841124 12 Biomarker, GeneticVariation BeFree, UNIPROT 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C2931833 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 0.213402054841124 12 Biomarker, GeneticVariation BeFree, UNIPROT 57379 AICDA activation-induced cytidine deaminase umls:C0272236 Hyper-IgM Immunodeficiency Syndrome 0.213402054841124 12 Biomarker, GeneticVariation BeFree, CTD_human 213 ALB albumin umls:C0007222 Cardiovascular Diseases 0.213402054841124 13 Biomarker, GeneticVariation BeFree, CTD_human 100310785 ALL1 Leukemia, acute lymphocytic, susceptibility to, 1 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.213402054841124 12 Biomarker BeFree, CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C1136249 Mental Retardation, X-Linked 0.213402054841124 12 Biomarker BeFree, CTD_human 551 AVP arginine vasopressin umls:C0032617 Polyuria 0.213402054841124 13 Biomarker, Therapeutic BeFree, CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0039101 Sarcoma, Synovial 0.213402054841124 12 Biomarker, Therapeutic BeFree, CTD_human 930 CD19 CD19 molecule umls:C0009447 Common Variable Immunodeficiency 0.213402054841124 13 Biomarker BeFree, CTD_human 1282 COL4A1 collagen, type IV, alpha 1 umls:C3714587 Porencephaly 0.213402054841124 12 Biomarker BeFree, CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0029928 Ovarian Diseases 0.213402054841124 13 Biomarker, GeneticVariation BeFree, CTD_human 2584 GALK1 galactokinase 1 umls:C0086543 Cataract 0.213402054841124 12 Biomarker BeFree, CTD_human 8091 HMGA2 high mobility group AT-hook 2 umls:C3489413 LIPOMATOSIS, MULTIPLE 0.213402054841124 12 Biomarker BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.213402054841124 15 Biomarker, Therapeutic BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0011581 Depressive Disorder 0.213402054841124 12 Biomarker, GeneticVariation BeFree, CTD_human 3667 IRS1 insulin receptor substrate 1 umls:C2239176 Carcinoma, Hepatocellular 0.213402054841124 13 Biomarker BeFree, CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C2239176 Carcinoma, Hepatocellular 0.213402054841124 12 Biomarker BeFree, CTD_human 3954 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 umls:C1956097 Wolf-Hirschhorn Syndrome 0.213402054841124 12 Biomarker BeFree, CTD_human 378938 MALAT1 metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) umls:C0027627 Neoplasm Metastasis 0.213402054841124 12 Biomarker BeFree, CTD_human 10892 MALT1 MALT1 paracaspase umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.213402054841124 12 Biomarker, GeneticVariation BeFree, CTD_human 407006 MIR221 microRNA 221 umls:C0027627 Neoplasm Metastasis 0.213402054841124 13 Biomarker BeFree, CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.213402054841124 12 Biomarker, GeneticVariation BeFree, CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0400966 Non-alcoholic Fatty Liver Disease 0.213402054841124 12 Biomarker, GeneticVariation BeFree, CTD_human 29072 SETD2 SET domain containing 2 umls:C0007134 Carcinoma, Renal Cell 0.213402054841124 14 Biomarker BeFree, CTD_human 6440 SFTPC surfactant protein C umls:C1800706 Idiopathic Pulmonary Fibrosis 0.213402054841124 12 Biomarker, GeneticVariation BeFree, CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0023903 Liver Neoplasms 0.213402054841124 13 Biomarker BeFree, CTD_human 7054 TH tyrosine hydroxylase umls:C0242422 Parkinsonian Disorders 0.213402054841124 12 Biomarker, GeneticVariation BeFree, CTD_human 7098 TLR3 toll-like receptor 3 umls:C0276226 Encephalitis, Herpes Simplex 0.213402054841124 12 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C1261473 Sarcoma 0.213402054841124 16 Biomarker, Therapeutic BeFree, CTD_human 7157 TP53 tumor protein p53 umls:C0010606 Carcinoma, Adenoid Cystic 0.213402054841124 13 Biomarker BeFree, CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0030193 Pain 0.213402054841124 15 Biomarker, Therapeutic BeFree, CTD_human 7535 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa umls:C0085110 Severe Combined Immunodeficiency 0.213402054841124 12 Biomarker BeFree, CTD_human 23746 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 umls:C0035334 Retinitis Pigmentosa 0.21337309077501 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 51129 ANGPTL4 angiopoietin-like 4 umls:C0007097 Carcinoma 0.21337309077501 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 307 ANXA4 annexin A4 umls:C0007134 Carcinoma, Renal Cell 0.21337309077501 4 Biomarker BeFree, CTD_human, LHGDN 482 ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide umls:C0017638 Glioma 0.21337309077501 3 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 8313 AXIN2 axin 2 umls:C0009375 Colonic Neoplasms 0.21337309077501 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 27241 BBS9 Bardet-Biedl syndrome 9 umls:C0752166 Bardet-Biedl Syndrome 0.21337309077501 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 596 BCL2 B-cell CLL/lymphoma 2 umls:C0004352 Autistic Disorder 0.21337309077501 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0021400 Influenza, Human 0.21337309077501 5 Biomarker BeFree, CTD_human, LHGDN 1356 CP ceruloplasmin (ferroxidase) umls:C0018995 Hemochromatosis 0.21337309077501 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1401 CRP C-reactive protein, pentraxin-related umls:C0025517 Metabolic Diseases 0.21337309077501 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1436 CSF1R colony stimulating factor 1 receptor umls:C0027651 Neoplasms 0.21337309077501 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0006625 Cachexia 0.21337309077501 4 Biomarker BeFree, CTD_human, LHGDN 1591 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 umls:C0024121 Lung Neoplasms 0.21337309077501 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0001418 Adenocarcinoma 0.21337309077501 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2056 EPO erythropoietin umls:C0025202 Melanoma 0.21337309077501 4 Biomarker BeFree, CTD_human, LHGDN 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0009375 Colonic Neoplasms 0.21337309077501 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2101 ESRRA estrogen-related receptor alpha umls:C1458155 Breast Neoplasms 0.21337309077501 5 Biomarker BeFree, CTD_human, LHGDN 392255 GDF6 growth differentiation factor 6 umls:C0022738 Klippel-Feil Syndrome 0.21337309077501 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0027627 Neoplasm Metastasis 0.21337309077501 4 Biomarker BeFree, CTD_human, LHGDN 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0001418 Adenocarcinoma 0.21337309077501 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 57817 HAMP hepcidin antimicrobial peptide umls:C0022661 Kidney Failure, Chronic 0.21337309077501 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3105 HLA-A major histocompatibility complex, class I, A umls:C0026764 Multiple Myeloma 0.21337309077501 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0014175 Endometriosis 0.21337309077501 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 182 JAG1 jagged 1 umls:C0018798 Heart Defects, Congenital 0.21337309077501 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0018923 Hemangiosarcoma 0.21337309077501 7 Biomarker BeFree, CTD_human, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0038356 Stomach Neoplasms 0.21337309077501 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 407006 MIR221 microRNA 221 umls:C1458155 Breast Neoplasms 0.21337309077501 5 Biomarker BeFree, CTD_human, LHGDN 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0017636 Glioblastoma 0.21337309077501 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8648 NCOA1 nuclear receptor coactivator 1 umls:C1458155 Breast Neoplasms 0.21337309077501 5 Biomarker BeFree, CTD_human, LHGDN 8031 NCOA4 nuclear receptor coactivator 4 umls:C0040136 Thyroid Neoplasms 0.21337309077501 5 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7080 NKX2-1 NK2 homeobox 1 umls:C0008489 Chorea 0.21337309077501 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4843 NOS2 nitric oxide synthase 2, inducible umls:C1458155 Breast Neoplasms 0.21337309077501 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0007785 Cerebral Infarction 0.21337309077501 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5830 PEX5 peroxisomal biogenesis factor 5 umls:C0043459 Zellweger Syndrome 0.21337309077501 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5583 PRKCH protein kinase C, eta umls:C0007785 Cerebral Infarction 0.21337309077501 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5925 RB1 retinoblastoma 1 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.21337309077501 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 50484 RRM2B ribonucleotide reductase M2 B (TP53 inducible) umls:C0751651 Mitochondrial Diseases 0.21337309077501 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6295 SAG S-antigen; retina and pineal gland (arrestin) umls:C0035334 Retinitis Pigmentosa 0.21337309077501 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6343 SCT secretin umls:C0004352 Autistic Disorder 0.21337309077501 7 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 10801 SEPT9 septin 9 umls:C0023467 Leukemia, Myeloid, Acute 0.21337309077501 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6423 SFRP2 secreted frizzled-related protein 2 umls:C0007134 Carcinoma, Renal Cell 0.21337309077501 3 Biomarker BeFree, CTD_human, LHGDN 6688 SPI1 Spi-1 proto-oncogene umls:C0023470 Leukemia, Myeloid 0.21337309077501 4 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 6948 TCN2 transcobalamin II umls:C0002888 Anemia, Megaloblastic 0.21337309077501 4 Biomarker BeFree, CTD_human, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0010314 Cri-du-Chat Syndrome 0.21337309077501 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7039 TGFA transforming growth factor, alpha umls:C0020542 Hypertension, Pulmonary 0.21337309077501 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0023281 Leishmaniasis 0.21337309077501 5 Biomarker BeFree, CTD_human, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0009375 Colonic Neoplasms 0.21337309077501 5 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0021364 Infertility, Male 0.21337309077501 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 51741 WWOX WW domain containing oxidoreductase umls:C0007137 Carcinoma, Squamous Cell 0.21337309077501 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0699790 Colon Carcinoma 0.213324714794402 47 Biomarker, GeneticVariation BeFree, CLINVAR 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0699790 Colon Carcinoma 0.213324714794402 47 Biomarker, GeneticVariation BeFree, CLINVAR 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0008313 Cholangitis, Sclerosing 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6833 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 umls:C0011854 Diabetes Mellitus, Type 1 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0024809 Marijuana Abuse 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 324 APC adenomatous polyposis coli umls:C0206646 Fibromatosis, Abdominal 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 337 APOA4 apolipoprotein A-IV umls:C0020445 Hyperlipoproteinemia Type II 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 94313 AUTS5 Autism, susceptibility to, 5 umls:C0004352 Autistic Disorder 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10678 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 umls:C0003873 Arthritis, Rheumatoid 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 627 BDNF brain-derived neurotrophic factor umls:C0019337 Heroin Dependence 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 64170 CARD9 caspase recruitment domain family, member 9 umls:C0038013 Spondylitis, Ankylosing 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0023283 Leishmaniasis, Cutaneous 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 998 CDC42 cell division cycle 42 umls:C0019693 HIV Infections 0.213167581229629 5 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, GAD 1053 CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 81037 CLPTM1L CLPTM1-like umls:C0152013 Adenocarcinoma of lung 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1376 CPT2 carnitine palmitoyltransferase 2 umls:C0026848 Muscular Diseases 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1075 CTSC cathepsin C umls:C0031090 Periodontal Diseases 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3577 CXCR1 chemokine (C-X-C motif) receptor 1 umls:C0019693 HIV Infections 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1555 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 umls:C0022661 Kidney Failure, Chronic 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1816 DRD5 dopamine receptor D5 umls:C0005586 Bipolar Disorder 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2559 GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 umls:C0036341 Schizophrenia 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2625 GATA3 GATA binding protein 3 umls:C0019829 Hodgkin Disease 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2638 GC group-specific component (vitamin D binding protein) umls:C0018213 Graves Disease 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2672 GFI1 growth factor independent 1 transcription repressor umls:C0023467 Leukemia, Myeloid, Acute 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2876 GPX1 glutathione peroxidase 1 umls:C0007193 Cardiomyopathy, Dilated 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3094 HINT1 histidine triad nucleotide binding protein 1 umls:C0036341 Schizophrenia 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3118 HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 umls:C0003873 Arthritis, Rheumatoid 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3458 IFNG interferon, gamma umls:C0008149 Chlamydia Infections 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3593 IL12B interleukin 12B umls:C0038013 Spondylitis, Ankylosing 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 83943 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) umls:C0004352 Autistic Disorder 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3613 IMPA2 inositol(myo)-1(or 4)-monophosphatase 2 umls:C0009952 Seizures, Febrile 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 221895 JAZF1 JAZF zinc finger 1 umls:C0024141 Lupus Erythematosus, Systemic 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3972 LHB luteinizing hormone beta polypeptide umls:C0020619 Hypogonadism 0.213167581229629 7 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 389421 LIN28B lin-28 homolog B (C. elegans) umls:C0027819 Neuroblastoma 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C0268495 Oculocutaneous albinism type 2 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4584 MUC3A mucin 3A, cell surface associated umls:C0009324 Colitis, Ulcerative 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0033860 Psoriasis 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7827 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) umls:C0027720 Nephrosis 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0020179 Huntington Disease 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 94103 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 umls:C0009324 Colitis, Ulcerative 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta umls:C0036341 Schizophrenia 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7941 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) umls:C0004096 Asthma 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0598608 Hyperhomocysteinemia 0.213167581229629 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5445 PON2 paraoxonase 2 umls:C0020445 Hyperlipoproteinemia Type II 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5579 PRKCB protein kinase C, beta umls:C0004352 Autistic Disorder 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0023532 Leukoplakia, Oral 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0079731 Lymphoma, B-Cell 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2185 PTK2B protein tyrosine kinase 2 beta umls:C0025202 Melanoma 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8787 RGS9 regulator of G-protein signaling 9 umls:C0036341 Schizophrenia 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6103 RPGR retinitis pigmentosa GTPase regulator umls:C0854723 Retinal Dystrophies 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 864 RUNX3 runt-related transcription factor 3 umls:C0038013 Spondylitis, Ankylosing 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6324 SCN1B sodium channel, voltage gated, type I beta subunit umls:C1142166 Brugada Syndrome 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C0027127 Myotonia Congenita 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0017661 Glomerulonephritis, IGA 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 51151 SLC45A2 solute carrier family 45, member 2 umls:C0007137 Carcinoma, Squamous Cell 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6647 SOD1 superoxide dismutase 1, soluble umls:C0011884 Diabetic Retinopathy 0.213167581229629 5 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0003873 Arthritis, Rheumatoid 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6804 STX1A syntaxin 1A (brain) umls:C0004352 Autistic Disorder 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 50511 SYCP3 synaptonemal complex protein 3 umls:C0004509 Azoospermia 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 117289 TAGAP T-cell activation RhoGTPase activating protein umls:C0010346 Crohn Disease 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0042373 Vascular Diseases 0.213167581229629 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6955 TRA T cell receptor alpha locus umls:C0027404 Narcolepsy 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0028754 Obesity 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7297 TYK2 tyrosine kinase 2 umls:C0033860 Psoriasis 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 79001 VKORC1 vitamin K epoxide reductase complex, subunit 1 umls:C0042373 Vascular Diseases 0.213167581229629 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 125893 ZNF816 zinc finger protein 816 umls:C0033860 Psoriasis 0.213167581229629 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1278 COL1A2 collagen, type I, alpha 2 umls:C0023931 osteogenesis imperfecta tarda 0.21311855027103 11 Biomarker, GeneticVariation BeFree, UNIPROT 2632 GBE1 glucan (1,4-alpha-), branching enzyme 1 umls:C1849722 Polyglucosan Body Disease, Adult Form 0.21311855027103 11 AlteredExpression, Biomarker, GeneticVariation BeFree, UNIPROT 324 APC adenomatous polyposis coli umls:C0021841 Intestinal Neoplasms 0.21311855027103 15 Biomarker BeFree, CTD_human 30835 CD209 CD209 molecule umls:C0011311 Dengue 0.21311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0282193 Iron Overload 0.21311855027103 12 Biomarker BeFree, CTD_human 2152 F3 coagulation factor III (thromboplastin, tissue factor) umls:C0012739 Disseminated Intravascular Coagulation 0.21311855027103 14 Biomarker BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C2239176 Carcinoma, Hepatocellular 0.21311855027103 14 Biomarker BeFree, CTD_human 3320 HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 umls:C0027627 Neoplasm Metastasis 0.21311855027103 12 Biomarker BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0019189 Hepatitis, Chronic 0.21311855027103 12 Biomarker, Therapeutic BeFree, CTD_human 3586 IL10 interleukin 10 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21311855027103 11 Biomarker BeFree, CTD_human 9365 KL klotho umls:C0085681 Hyperphosphatemia 0.21311855027103 12 Biomarker BeFree, CTD_human 3954 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 umls:C0036572 Seizures 0.21311855027103 11 Biomarker BeFree, CTD_human 4284 MIP major intrinsic protein of lens fiber umls:C0086543 Cataract 0.21311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human 406988 MIR205 microRNA 205 umls:C0027627 Neoplasm Metastasis 0.21311855027103 12 Biomarker BeFree, CTD_human 4291 MLF1 myeloid leukemia factor 1 umls:C0023467 Leukemia, Myeloid, Acute 0.21311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C2931822 Nasopharyngeal carcinoma 0.21311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0028754 Obesity 0.21311855027103 12 Biomarker, GeneticVariation BeFree, CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0018923 Hemangiosarcoma 0.21311855027103 12 Biomarker BeFree, CTD_human 51196 PLCE1 phospholipase C, epsilon 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human 5428 POLG polymerase (DNA directed), gamma umls:C0014544 Epilepsy 0.21311855027103 12 Biomarker BeFree, CTD_human 5546 PRCC papillary renal cell carcinoma (translocation-associated) umls:C0007134 Carcinoma, Renal Cell 0.21311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human 5829 PXN paxillin umls:C0027627 Neoplasm Metastasis 0.21311855027103 12 Biomarker BeFree, CTD_human 5889 RAD51C RAD51 paralog C umls:C0015625 Fanconi Anemia 0.21311855027103 11 Biomarker BeFree, CTD_human 8036 SHOC2 soc-2 suppressor of clear homolog (C. elegans) umls:C0028326 Noonan Syndrome 0.21311855027103 12 Biomarker, GeneticVariation BeFree, CTD_human 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C0006845 Candidiasis, Chronic Mucocutaneous 0.21311855027103 11 Biomarker, GeneticVariation BeFree, CTD_human 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C0026918 Mycobacterium Infections 0.21311855027103 12 Biomarker, GeneticVariation BeFree, CTD_human 164656 TMPRSS6 transmembrane protease, serine 6 umls:C0162316 Anemia, Iron-Deficiency 0.21311855027103 12 Biomarker, GeneticVariation BeFree, CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0027627 Neoplasm Metastasis 0.21311855027103 12 Biomarker, Therapeutic BeFree, CTD_human 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0007193 Cardiomyopathy, Dilated 0.213110308075391 23 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 23171 GPD1L glycerol-3-phosphate dehydrogenase 1-like umls:C0038644 Sudden Infant Death 0.213089586204917 2 Biomarker, GeneticVariation BeFree, LHGDN, UNIPROT 57007 ACKR3 atypical chemokine receptor 3 umls:C0007097 Carcinoma 0.213089586204917 3 Biomarker BeFree, CTD_human, LHGDN 10551 AGR2 anterior gradient 2 umls:C1458155 Breast Neoplasms 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 240 ALOX5 arachidonate 5-lipoxygenase umls:C0042109 Urticaria 0.213089586204917 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 284 ANGPT1 angiopoietin 1 umls:C0243026 Sepsis 0.213089586204917 4 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 374 AREG amphiregulin umls:C0007137 Carcinoma, Squamous Cell 0.213089586204917 3 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0001418 Adenocarcinoma 0.213089586204917 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 115761 ARL11 ADP-ribosylation factor-like 11 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.213089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 400500 BCAR4 breast cancer anti-estrogen resistance 4 (non-protein coding) umls:C1458155 Breast Neoplasms 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 655 BMP7 bone morphogenetic protein 7 umls:C0033578 Prostatic Neoplasms 0.213089586204917 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 865 CBFB core-binding factor, beta subunit umls:C0023479 Leukemia, Myelomonocytic, Acute 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 595 CCND1 cyclin D1 umls:C0010606 Carcinoma, Adenoid Cystic 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 595 CCND1 cyclin D1 umls:C0019562 von Hippel-Lindau Disease 0.213089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0271650 Glucose Intolerance 0.213089586204917 3 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 9308 CD83 CD83 molecule umls:C0003873 Arthritis, Rheumatoid 0.213089586204917 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0030354 Papilloma 0.213089586204917 4 Biomarker BeFree, CTD_human, LHGDN 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0206754 Neuroendocrine Tumors 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0919267 Ovarian Neoplasms 0.213089586204917 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 8837 CFLAR CASP8 and FADD-like apoptosis regulator umls:C0026986 Myelodysplastic Syndromes 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1181 CLCN2 chloride channel, voltage-sensitive 2 umls:C0014553 Epilepsy, Absence 0.213089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1471 CST3 cystatin C umls:C0025286 Meningioma 0.213089586204917 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1475 CSTA cystatin A (stefin A) umls:C0027627 Neoplasm Metastasis 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1476 CSTB cystatin B (stefin B) umls:C0025286 Meningioma 0.213089586204917 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1490 CTGF connective tissue growth factor umls:C0001418 Adenocarcinoma 0.213089586204917 4 Biomarker BeFree, CTD_human, LHGDN 1612 DAPK1 death-associated protein kinase 1 umls:C0024121 Lung Neoplasms 0.213089586204917 4 Biomarker BeFree, CTD_human, LHGDN 1673 DEFB4A defensin, beta 4A umls:C0021390 Inflammatory Bowel Diseases 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0001418 Adenocarcinoma 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 26298 EHF ets homologous factor umls:C0033578 Prostatic Neoplasms 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2023 ENO1 enolase 1, (alpha) umls:C2239176 Carcinoma, Hepatocellular 0.213089586204917 3 Biomarker BeFree, CTD_human, LHGDN 2157 F8 coagulation factor VIII, procoagulant component umls:C0398623 Thrombophilia 0.213089586204917 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0025500 Mesothelioma 0.213089586204917 3 Biomarker BeFree, CTD_human, LHGDN 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C1458155 Breast Neoplasms 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2520 GAST gastrin umls:C0009375 Colonic Neoplasms 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2879 GPX4 glutathione peroxidase 4 umls:C1458155 Breast Neoplasms 0.213089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2886 GRB7 growth factor receptor-bound protein 7 umls:C1458155 Breast Neoplasms 0.213089586204917 5 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 2925 GRPR gastrin-releasing peptide receptor umls:C0033578 Prostatic Neoplasms 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2952 GSTT1 glutathione S-transferase theta 1 umls:C0017636 Glioblastoma 0.213089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3065 HDAC1 histone deacetylase 1 umls:C0007137 Carcinoma, Squamous Cell 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0023467 Leukemia, Myeloid, Acute 0.213089586204917 3 Biomarker BeFree, CTD_human, LHGDN 3161 HMMR hyaluronan-mediated motility receptor (RHAMM) umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.213089586204917 2 Biomarker BeFree, CTD_human, LHGDN 3240 HP haptoglobin umls:C0041296 Tuberculosis 0.213089586204917 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0018923 Hemangiosarcoma 0.213089586204917 4 Biomarker BeFree, CTD_human, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0009375 Colonic Neoplasms 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0033578 Prostatic Neoplasms 0.213089586204917 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3458 IFNG interferon, gamma umls:C0006272 Bronchiolitis Obliterans 0.213089586204917 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 3553 IL1B interleukin 1, beta umls:C0006287 Bronchopulmonary Dysplasia 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3569 IL6 interleukin 6 umls:C0017531 Giant Lymph Node Hyperplasia 0.213089586204917 4 Biomarker BeFree, CTD_human, LHGDN 3678 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) umls:C0007137 Carcinoma, Squamous Cell 0.213089586204917 4 Biomarker BeFree, CTD_human, LHGDN 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0023487 Leukemia, Promyelocytic, Acute 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3982 LIM2 lens intrinsic membrane protein 2, 19kDa umls:C0086543 Cataract 0.213089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 406938 MIR146A microRNA 146a umls:C0002395 Alzheimer Disease 0.213089586204917 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4319 MMP10 matrix metallopeptidase 10 (stromelysin 2) umls:C0024121 Lung Neoplasms 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4330 MN1 meningioma (disrupted in balanced translocation) 1 umls:C0023467 Leukemia, Myeloid, Acute 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0001418 Adenocarcinoma 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4582 MUC1 mucin 1, cell surface associated umls:C0025500 Mesothelioma 0.213089586204917 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4878 NPPA natriuretic peptide A umls:C0007193 Cardiomyopathy, Dilated 0.213089586204917 5 Biomarker BeFree, CTD_human, LHGDN 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0029463 Osteosarcoma 0.213089586204917 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0028840 Ocular Hypertension 0.213089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0007097 Carcinoma 0.213089586204917 4 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 5111 PCNA proliferating cell nuclear antigen umls:C0024121 Lung Neoplasms 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C0025149 Medulloblastoma 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5173 PDYN prodynorphin umls:C0013384 Dyskinesias 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5195 PEX14 peroxisomal biogenesis factor 14 umls:C0043459 Zellweger Syndrome 0.213089586204917 2 Biomarker BeFree, CTD_human, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0007097 Carcinoma 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0033860 Psoriasis 0.213089586204917 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 5731 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa umls:C0001418 Adenocarcinoma 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5740 PTGIS prostaglandin I2 (prostacyclin) synthase umls:C0024121 Lung Neoplasms 0.213089586204917 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0030354 Papilloma 0.213089586204917 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0025500 Mesothelioma 0.213089586204917 4 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 83593 RASSF5 Ras association (RalGDS/AF-6) domain family member 5 umls:C0027819 Neuroblastoma 0.213089586204917 2 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 864 RUNX3 runt-related transcription factor 3 umls:C0014859 Esophageal Neoplasms 0.213089586204917 4 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6275 S100A4 S100 calcium binding protein A4 umls:C0025149 Medulloblastoma 0.213089586204917 2 Biomarker BeFree, CTD_human, LHGDN 6277 S100A6 S100 calcium binding protein A6 umls:C0007097 Carcinoma 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7356 SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) umls:C0024115 Lung Diseases 0.213089586204917 4 Biomarker BeFree, CTD_human, LHGDN 6425 SFRP5 secreted frizzled-related protein 5 umls:C1458155 Breast Neoplasms 0.213089586204917 3 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0085568 Buruli Ulcer 0.213089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5002 SLC22A18 solute carrier family 22, member 18 umls:C1458155 Breast Neoplasms 0.213089586204917 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0919267 Ovarian Neoplasms 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 55676 SLC30A6 solute carrier family 30 (zinc transporter), member 6 umls:C0002395 Alzheimer Disease 0.213089586204917 3 Biomarker BeFree, CTD_human, LHGDN 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C0206698 Cholangiocarcinoma 0.213089586204917 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6548 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 umls:C0018801 Heart Failure 0.213089586204917 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 170682 SLEH1 systemic lupus erythematosus with hemolytic anemia 1 umls:C0024141 Lupus Erythematosus, Systemic 0.213089586204917 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6623 SNCG synuclein, gamma (breast cancer-specific protein 1) umls:C0007097 Carcinoma 0.213089586204917 4 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0026764 Multiple Myeloma 0.213089586204917 2 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 10653 SPINT2 serine peptidase inhibitor, Kunitz type, 2 umls:C0007097 Carcinoma 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 9901 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 umls:C3714756 Intellectual Disability 0.213089586204917 4 Biomarker BeFree, CTD_human, LHGDN 6776 STAT5A signal transducer and activator of transcription 5A umls:C0001418 Adenocarcinoma 0.213089586204917 5 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 7014 TERF2 telomeric repeat binding factor 2 umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.213089586204917 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7037 TFRC transferrin receptor umls:C0162316 Anemia, Iron-Deficiency 0.213089586204917 6 Biomarker BeFree, CTD_human, LHGDN 7040 TGFB1 transforming growth factor, beta 1 umls:C0013295 Duodenal Ulcer 0.213089586204917 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, LHGDN 7057 THBS1 thrombospondin 1 umls:C1458155 Breast Neoplasms 0.213089586204917 4 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 7112 TMPO thymopoietin umls:C0007193 Cardiomyopathy, Dilated 0.213089586204917 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7124 TNF tumor necrosis factor umls:C0009375 Colonic Neoplasms 0.213089586204917 5 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0021400 Influenza, Human 0.213089586204917 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 55809 TRERF1 transcriptional regulating factor 1 umls:C1458155 Breast Neoplasms 0.213089586204917 3 Biomarker BeFree, CTD_human, LHGDN 7248 TSC1 tuberous sclerosis 1 umls:C0004352 Autistic Disorder 0.213089586204917 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7248 TSC1 tuberous sclerosis 1 umls:C0037769 Spasms, Infantile 0.213089586204917 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7345 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) umls:C2239176 Carcinoma, Hepatocellular 0.213089586204917 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C0022610 Kernicterus 0.213089586204917 4 Biomarker BeFree, CTD_human, LHGDN 7473 WNT3 wingless-type MMTV integration site family, member 3 umls:C0334634 Lymphoma, Mantle-Cell 0.213089586204917 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 64131 XYLT1 xylosyltransferase I umls:C0033847 Pseudoxanthoma Elasticum 0.213089586204917 2 Biomarker BeFree, CTD_human, LHGDN 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C1141890 Congenital long QT syndrome 0.213041210224309 46 Biomarker, GeneticVariation BeFree, CLINVAR 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0022665 Kidney Neoplasms 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0030201 Pain, Postoperative 0.212884076659535 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 1636 ACE angiotensin I converting enzyme umls:C0025303 Meningococcal Infections 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 210 ALAD aminolevulinate dehydratase umls:C0020538 Hypertension 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10239 AP3S2 adaptor-related protein complex 3, sigma 2 subunit umls:C0011860 Diabetes Mellitus, Type 2 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 116519 APOA5 apolipoprotein A-V umls:C0020479 Hyperlipoproteinemia Type III 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 84159 ARID5B AT rich interactive domain 5B (MRF1-like) umls:C0003873 Arthritis, Rheumatoid 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0162557 Liver Failure, Acute 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 60468 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 umls:C0010346 Crohn Disease 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 596 BCL2 B-cell CLL/lymphoma 2 umls:C0004509 Azoospermia 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8315 BRAP BRCA1 associated protein umls:C0027051 Myocardial Infarction 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 56946 C11orf30 chromosome 11 open reading frame 30 umls:C0011615 Dermatitis, Atopic 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 796 CALCA calcitonin-related polypeptide alpha umls:C0029408 Osteoarthritis 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0001418 Adenocarcinoma 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1019 CDK4 cyclin-dependent kinase 4 umls:C0006118 Brain Neoplasms 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23274 CLEC16A C-type lectin domain family 16, member A umls:C0001403 Addison Disease 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1215 CMA1 chymase 1, mast cell umls:C0020538 Hypertension 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 50514 DEC1 deleted in esophageal cancer 1 umls:C0014859 Esophageal Neoplasms 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 139189 DGKK diacylglycerol kinase, kappa umls:C0848558 Hypospadias 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1947 EFNB1 ephrin-B1 umls:C0010278 Craniosynostoses 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2255 FGF10 fibroblast growth factor 10 umls:C0008925 Cleft Palate 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C0270736 Essential Tremor 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2562 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 umls:C0014544 Epilepsy 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2638 GC group-specific component (vitamin D binding protein) umls:C0003873 Arthritis, Rheumatoid 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0033860 Psoriasis 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 57369 GJD2 gap junction protein, delta 2, 36kDa umls:C0027092 Myopia 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2915 GRM5 glutamate receptor, metabotropic 5 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2952 GSTT1 glutathione S-transferase theta 1 umls:C0003949 Asbestosis 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9464 HAND2 heart and neural crest derivatives expressed 2 umls:C0018798 Heart Defects, Congenital 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0007124 Carcinoma, Intraductal, Noninfiltrating 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3106 HLA-B major histocompatibility complex, class I, B umls:C0039103 Synovitis 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3122 HLA-DRA major histocompatibility complex, class II, DR alpha umls:C0030567 Parkinson Disease 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0032285 Pneumonia 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0004352 Autistic Disorder 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 163702 IFNLR1 interferon, lambda receptor 1 umls:C0033860 Psoriasis 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3559 IL2RA interleukin 2 receptor, alpha umls:C0002171 Alopecia Areata 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3566 IL4R interleukin 4 receptor umls:C0007134 Carcinoma, Renal Cell 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0023891 Liver Cirrhosis, Alcoholic 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9365 KL klotho umls:C0006663 Calcinosis 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9365 KL klotho umls:C0020437 Hypercalcemia 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4048 LTA4H leukotriene A4 hydrolase umls:C0004153 Atherosclerosis 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4200 ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial umls:C0270850 Epilepsy, Idiopathic Generalized 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0036341 Schizophrenia 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4314 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) umls:C0004114 Astrocytoma 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4436 MSH2 mutS homolog 2 umls:C0017638 Glioma 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4485 MST1 macrophage stimulating 1 (hepatocyte growth factor-like) umls:C0008313 Cholangitis, Sclerosing 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4544 MTNR1B melatonin receptor 1B umls:C0032460 Polycystic Ovary Syndrome 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0024301 Lymphoma, Follicular 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4734 NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase umls:C0022548 Keloid 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 222698 NKAPL NFKB activating protein-like umls:C0036341 Schizophrenia 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4887 NPY2R neuropeptide Y receptor Y2 umls:C0001973 Alcoholism 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5032 P2RY11 purinergic receptor P2Y, G-protein coupled, 11 umls:C0027404 Narcolepsy 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 100359403 PARK16 Parkinson disease 16 (susceptibility) umls:C0030567 Parkinson Disease 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5133 PDCD1 programmed cell death 1 umls:C0026769 Multiple Sclerosis 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5284 PIGR polymeric immunoglobulin receptor umls:C0017661 Glomerulonephritis, IGA 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0004352 Autistic Disorder 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0006118 Brain Neoplasms 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0010073 Coronary Vasospasm 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5617 PRL prolactin umls:C0004352 Autistic Disorder 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C0040038 Thromboembolism 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8000 PSCA prostate stem cell antigen umls:C0013295 Duodenal Ulcer 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5727 PTCH1 patched 1 umls:C0030297 Pancreatic Neoplasms 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 139411 PTCHD1 patched domain containing 1 umls:C0004352 Autistic Disorder 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0029172 Oral Submucous Fibrosis 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5741 PTH parathyroid hormone umls:C0029458 Osteoporosis, Postmenopausal 0.212884076659535 4 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 9232 PTTG1 pituitary tumor-transforming 1 umls:C0033860 Psoriasis 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 149628 PYHIN1 pyrin and HIN domain family, member 1 umls:C0004096 Asthma 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6279 S100A8 S100 calcium binding protein A8 umls:C0011615 Dermatitis, Atopic 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54414 SIAE sialic acid acetylesterase umls:C0004364 Autoimmune Diseases 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6581 SLC22A3 solute carrier family 22 (organic cation transporter), member 3 umls:C0033578 Prostatic Neoplasms 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 348932 SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18 umls:C0020538 Hypertension 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6535 SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 umls:C0004352 Autistic Disorder 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6616 SNAP25 synaptosomal-associated protein, 25kDa umls:C0005586 Bipolar Disorder 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6647 SOD1 superoxide dismutase 1, soluble umls:C0023895 Liver Diseases 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0028754 Obesity 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6671 SP4 Sp4 transcription factor umls:C0005586 Bipolar Disorder 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8128 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 umls:C0004352 Autistic Disorder 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 27347 STK39 serine threonine kinase 39 umls:C0004352 Autistic Disorder 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 55014 STX17 syntaxin 17 umls:C0025202 Melanoma 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10228 STX6 syntaxin 6 umls:C0038868 Supranuclear Palsy, Progressive 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8831 SYNGAP1 synaptic Ras GTPase activating protein 1 umls:C0004352 Autistic Disorder 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6863 TAC1 tachykinin, precursor 1 umls:C0036341 Schizophrenia 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0042109 Urticaria 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0242383 Macular Degeneration 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8741 TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 umls:C0017661 Glomerulonephritis, IGA 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 27324 TOX3 TOX high mobility group box family member 3 umls:C1458155 Breast Neoplasms 0.212884076659535 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 90139 TSPAN18 tetraspanin 18 umls:C0036341 Schizophrenia 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7297 TYK2 tyrosine kinase 2 umls:C0003873 Arthritis, Rheumatoid 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7298 TYMS thymidylate synthetase umls:C0024301 Lymphoma, Follicular 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C0019829 Hodgkin Disease 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54887 UHRF1BP1 UHRF1 binding protein 1 umls:C0024141 Lupus Erythematosus, Systemic 0.212884076659535 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 51530 ZC3HC1 zinc finger, C3HC-type containing 1 umls:C1956346 Coronary Artery Disease 0.212884076659535 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2099 ESR1 estrogen receptor 1 umls:C3809250 ESTROGEN RESISTANCE 0.212835045700937 11 Biomarker, GeneticVariation BeFree, UNIPROT 10939 AFG3L2 AFG3-like AAA ATPase 2 umls:C0087012 Spinocerebellar Ataxias 0.212835045700937 11 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0022661 Kidney Failure, Chronic 0.212835045700937 11 Biomarker, GeneticVariation BeFree, CTD_human 324 APC adenomatous polyposis coli umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.212835045700937 10 Biomarker BeFree, CTD_human 940 CD28 CD28 molecule umls:C0004364 Autoimmune Diseases 0.212835045700937 12 Biomarker, GeneticVariation BeFree, CTD_human 1113 CHGA chromogranin A (parathyroid secretory protein 1) umls:C0031511 Pheochromocytoma 0.212835045700937 11 Biomarker BeFree, CTD_human 1394 CRHR1 corticotropin releasing hormone receptor 1 umls:C0003469 Anxiety Disorders 0.212835045700937 12 Biomarker, GeneticVariation BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0026764 Multiple Myeloma 0.212835045700937 13 Biomarker, Therapeutic BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0027947 Neutropenia 0.212835045700937 12 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 2161 F12 coagulation factor XII (Hageman factor) umls:C0019243 Angioedemas, Hereditary 0.212835045700937 11 Biomarker, GeneticVariation BeFree, CTD_human 2152 F3 coagulation factor III (thromboplastin, tissue factor) umls:C0023487 Leukemia, Promyelocytic, Acute 0.212835045700937 11 Biomarker BeFree, CTD_human 2200 FBN1 fibrillin 1 umls:C0265313 Weill-Marchesani Syndrome 0.212835045700937 10 Biomarker BeFree, CTD_human 2248 FGF3 fibroblast growth factor 3 umls:C1458155 Breast Neoplasms 0.212835045700937 11 Biomarker BeFree, CTD_human 79147 FKRP fukutin related protein umls:C0265221 Walker-Warburg Syndrome 0.212835045700937 10 Biomarker BeFree, CTD_human 2539 G6PD glucose-6-phosphate dehydrogenase umls:C0002882 Anemia, Hemolytic, Congenital Nonspherocytic 0.212835045700937 12 Biomarker BeFree, CTD_human 2588 GALNS galactosamine (N-acetyl)-6-sulfatase umls:C0026707 Mucopolysaccharidosis IV 0.212835045700937 10 Biomarker, GeneticVariation BeFree, CTD_human 3020 H3F3A H3 histone, family 3A umls:C0017638 Glioma 0.212835045700937 12 Biomarker, GeneticVariation BeFree, CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0034069 Pulmonary Fibrosis 0.212835045700937 11 Biomarker BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0027819 Neuroblastoma 0.212835045700937 11 Biomarker BeFree, CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0026846 Muscular Atrophy 0.212835045700937 11 Biomarker, Therapeutic BeFree, CTD_human 9365 KL klotho umls:C0003850 Arteriosclerosis 0.212835045700937 11 Biomarker BeFree, CTD_human 3852 KRT5 keratin 5, type II umls:C3714534 dowling-degos disease 0.212835045700937 10 Biomarker BeFree, CTD_human 100507436 MICA MHC class I polypeptide-related sequence A umls:C2239176 Carcinoma, Hepatocellular 0.212835045700937 11 Biomarker, GeneticVariation BeFree, CTD_human 406913 MIR126 microRNA 126 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.212835045700937 11 Biomarker, Therapeutic BeFree, CTD_human 4321 MMP12 matrix metallopeptidase 12 (macrophage elastase) umls:C0034067 Pulmonary Emphysema 0.212835045700937 10 Biomarker, GeneticVariation BeFree, CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C2239176 Carcinoma, Hepatocellular 0.212835045700937 10 Biomarker BeFree, CTD_human 594857 NPS neuropeptide S umls:C0003469 Anxiety Disorders 0.212835045700937 12 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 4852 NPY neuropeptide Y umls:C0036572 Seizures 0.212835045700937 13 Biomarker, Therapeutic BeFree, CTD_human 8431 NR0B2 nuclear receptor subfamily 0, group B, member 2 umls:C2239176 Carcinoma, Hepatocellular 0.212835045700937 11 Biomarker BeFree, CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0027819 Neuroblastoma 0.212835045700937 11 Biomarker BeFree, CTD_human 5189 PEX1 peroxisomal biogenesis factor 1 umls:C1832200 Peroxisome biogenesis disorders 0.212835045700937 11 Biomarker BeFree, CTD_human 5241 PGR progesterone receptor umls:C0001418 Adenocarcinoma 0.212835045700937 11 Biomarker BeFree, CTD_human 5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.212835045700937 10 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0020538 Hypertension 0.212835045700937 78 Biomarker, Therapeutic BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0037769 Spasms, Infantile 0.212835045700937 30 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 10547 PSORS4 psoriasis susceptibility 4 umls:C0033860 Psoriasis 0.212835045700937 10 Biomarker BeFree, CTD_human 5741 PTH parathyroid hormone umls:C0020438 Hypercalciuria 0.212835045700937 11 Biomarker, GeneticVariation BeFree, CTD_human 864 RUNX3 runt-related transcription factor 3 umls:C0023467 Leukemia, Myeloid, Acute 0.212835045700937 11 Biomarker BeFree, CTD_human 6278 S100A7 S100 calcium binding protein A7 umls:C0033860 Psoriasis 0.212835045700937 11 Biomarker, GeneticVariation BeFree, CTD_human 8878 SQSTM1 sequestosome 1 umls:C0002736 Amyotrophic Lateral Sclerosis 0.212835045700937 11 Biomarker, GeneticVariation BeFree, CTD_human 7054 TH tyrosine hydroxylase umls:C0031511 Pheochromocytoma 0.212835045700937 11 Biomarker BeFree, CTD_human 7099 TLR4 toll-like receptor 4 umls:C0027627 Neoplasm Metastasis 0.212835045700937 10 Biomarker, GeneticVariation BeFree, CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0007134 Carcinoma, Renal Cell 0.212835045700937 11 Biomarker, Therapeutic BeFree, CTD_human 7157 TP53 tumor protein p53 umls:C0001624 Adrenal Gland Neoplasms 0.212835045700937 11 Biomarker BeFree, CTD_human 8626 TP63 tumor protein p63 umls:C0027627 Neoplasm Metastasis 0.212835045700937 11 Biomarker BeFree, CTD_human 1462 VCAN versican umls:C1840452 Hyaloideoretinal degeneration of Wagner 0.212835045700937 10 Biomarker, GeneticVariation BeFree, CTD_human 25 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase umls:C1458155 Breast Neoplasms 0.212806081634823 3 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 60 ACTB actin, beta umls:C0013421 Dystonia 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 55256 ADI1 acireductone dioxygenase 1 umls:C0033578 Prostatic Neoplasms 0.212806081634823 1 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8854 ALDH1A2 aldehyde dehydrogenase 1 family, member A2 umls:C0025312 Meningomyelocele 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 324 APC adenomatous polyposis coli umls:C0024121 Lung Neoplasms 0.212806081634823 3 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 396 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha umls:C0027627 Neoplasm Metastasis 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 467 ATF3 activating transcription factor 3 umls:C0033578 Prostatic Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0019158 Hepatitis 0.212806081634823 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 27113 BBC3 BCL2 binding component 3 umls:C0006413 Burkitt Lymphoma 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 652 BMP4 bone morphogenetic protein 4 umls:C1458155 Breast Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 701 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B umls:C0206656 Rhabdomyosarcoma, Embryonal 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 56946 C11orf30 chromosome 11 open reading frame 30 umls:C1458155 Breast Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 847 CAT catalase umls:C0033860 Psoriasis 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0034069 Pulmonary Fibrosis 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C2239176 Carcinoma, Hepatocellular 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 6352 CCL5 chemokine (C-C motif) ligand 5 umls:C0034069 Pulmonary Fibrosis 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 894 CCND2 cyclin D2 umls:C0033578 Prostatic Neoplasms 0.212806081634823 2 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 941 CD80 CD80 molecule umls:C0017661 Glomerulonephritis, IGA 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0038356 Stomach Neoplasms 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0024121 Lung Neoplasms 0.212806081634823 5 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0282612 Prostatic Intraepithelial Neoplasia 0.212806081634823 3 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 634 CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) umls:C0024121 Lung Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1072 CFL1 cofilin 1 (non-muscle) umls:C0080178 Spinal Dysraphism 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0004352 Autistic Disorder 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1280 COL2A1 collagen, type II, alpha 1 umls:C0018784 Hearing Loss, Sensorineural 0.212806081634823 3 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1381 CRABP1 cellular retinoic acid binding protein 1 umls:C0007134 Carcinoma, Renal Cell 0.212806081634823 1 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1436 CSF1R colony stimulating factor 1 receptor umls:C1458155 Breast Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 1514 CTSL cathepsin L umls:C0025286 Meningioma 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1576 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 umls:C0033578 Prostatic Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 1580 CYP4B1 cytochrome P450, family 4, subfamily B, polypeptide 1 umls:C0005695 Urinary Bladder Neoplasms 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 9420 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 umls:C0033578 Prostatic Neoplasms 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 1719 DHFR dihydrofolate reductase umls:C0004352 Autistic Disorder 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 54567 DLL4 delta-like 4 (Drosophila) umls:C1458155 Breast Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1808 DPYSL2 dihydropyrimidinase-like 2 umls:C0002395 Alzheimer Disease 0.212806081634823 3 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 55840 EAF2 ELL associated factor 2 umls:C0033578 Prostatic Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2202 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 umls:C0001418 Adenocarcinoma 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2202 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 umls:C0024121 Lung Neoplasms 0.212806081634823 2 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 1959 EGR2 early growth response 2 umls:C0004352 Autistic Disorder 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 1959 EGR2 early growth response 2 umls:C0035372 Rett Syndrome 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 255520 ELMOD2 ELMO/CED-12 domain containing 2 umls:C1800706 Idiopathic Pulmonary Fibrosis 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 2056 EPO erythropoietin umls:C0027627 Neoplasm Metastasis 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2067 ERCC1 excision repair cross-complementation group 1 umls:C0039590 Testicular Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2101 ESRRA estrogen-related receptor alpha umls:C0025517 Metabolic Diseases 0.212806081634823 3 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 2152 F3 coagulation factor III (thromboplastin, tissue factor) umls:C0023890 Liver Cirrhosis 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8772 FADD Fas (TNFRSF6)-associated via death domain umls:C0027627 Neoplasm Metastasis 0.212806081634823 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 355 FAS Fas cell surface death receptor umls:C0162557 Liver Failure, Acute 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 9103 FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) umls:C0398650 Purpura, Thrombocytopenic, Idiopathic 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2245 FGD1 FYVE, RhoGEF and PH domain containing 1 umls:C1136249 Mental Retardation, X-Linked 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0085109 Corneal Neovascularization 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 2249 FGF4 fibroblast growth factor 4 umls:C1458155 Breast Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2252 FGF7 fibroblast growth factor 7 umls:C2937421 Prostatic Hyperplasia 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0023890 Liver Cirrhosis 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2277 FIGF c-fos induced growth factor (vascular endothelial growth factor D) umls:C0751674 Lymphangioleiomyomatosis 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2335 FN1 fibronectin 1 umls:C0010346 Crohn Disease 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0014175 Endometriosis 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3169 FOXA1 forkhead box A1 umls:C0033578 Prostatic Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 2305 FOXM1 forkhead box M1 umls:C1458155 Breast Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2308 FOXO1 forkhead box O1 umls:C0023467 Leukemia, Myeloid, Acute 0.212806081634823 3 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human, LHGDN 2495 FTH1 ferritin, heavy polypeptide 1 umls:C0282193 Iron Overload 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 2662 GDF10 growth differentiation factor 10 umls:C0025500 Mesothelioma 0.212806081634823 1 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 2668 GDNF glial cell derived neurotrophic factor umls:C0020179 Huntington Disease 0.212806081634823 3 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 2668 GDNF glial cell derived neurotrophic factor umls:C0035304 Retinal Degeneration 0.212806081634823 2 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 2678 GGT1 gamma-glutamyltransferase 1 umls:C0023895 Liver Diseases 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2688 GH1 growth hormone 1 umls:C0026846 Muscular Atrophy 0.212806081634823 3 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 51738 GHRL ghrelin/obestatin prepropeptide umls:C0006625 Cachexia 0.212806081634823 3 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0024121 Lung Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0033578 Prostatic Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 10804 GJB6 gap junction protein, beta 6, 30kDa umls:C0013575 Ectodermal Dysplasia 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 2778 GNAS GNAS complex locus umls:C0206698 Cholangiocarcinoma 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 2981 GUCA2B guanylate cyclase activator 2B (uroguanylin) umls:C0022661 Kidney Failure, Chronic 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 3014 H2AFX H2A histone family, member X umls:C1458155 Breast Neoplasms 0.212806081634823 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 338442 HCAR2 hydroxycarboxylic acid receptor 2 umls:C0036341 Schizophrenia 0.212806081634823 1 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 64399 HHIP hedgehog interacting protein umls:C2239176 Carcinoma, Hepatocellular 0.212806081634823 1 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 10481 HOXB13 homeobox B13 umls:C0025202 Melanoma 0.212806081634823 1 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3236 HOXD10 homeobox D10 umls:C0007959 Charcot-Marie-Tooth Disease 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3315 HSPB1 heat shock 27kDa protein 1 umls:C0007134 Carcinoma, Renal Cell 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3315 HSPB1 heat shock 27kDa protein 1 umls:C0026764 Multiple Myeloma 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3600 IL15 interleukin 15 umls:C0014175 Endometriosis 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3606 IL18 interleukin 18 umls:C0027651 Neoplasms 0.212806081634823 3 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3553 IL1B interleukin 1, beta umls:C0026848 Muscular Diseases 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 3558 IL2 interleukin 2 umls:C0033578 Prostatic Neoplasms 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 11009 IL24 interleukin 24 umls:C0030297 Pancreatic Neoplasms 0.212806081634823 2 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 3572 IL6ST interleukin 6 signal transducer umls:C0032285 Pneumonia 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 221037 JMJD1C jumonji domain containing 1C umls:C0004352 Autistic Disorder 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 3727 JUND jun D proto-oncogene umls:C0017658 Glomerulonephritis 0.212806081634823 1 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3756 KCNH1 potassium channel, voltage gated eag related subfamily H, member 1 umls:C1458155 Breast Neoplasms 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3791 KDR kinase insert domain receptor umls:C0001418 Adenocarcinoma 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5655 KLK10 kallikrein-related peptidase 10 umls:C0919267 Ovarian Neoplasms 0.212806081634823 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 55904 KMT2E lysine (K)-specific methyltransferase 2E umls:C0023470 Leukemia, Myeloid 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 54474 KRT20 keratin 20, type I umls:C0038356 Stomach Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 3856 KRT8 keratin 8, type II umls:C0001418 Adenocarcinoma 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 3934 LCN2 lipocalin 2 umls:C0005283 beta-Thalassemia 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 51176 LEF1 lymphoid enhancer-binding factor 1 umls:C0009375 Colonic Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3958 LGALS3 lectin, galactoside-binding, soluble, 3 umls:C0027697 Nephritis 0.212806081634823 2 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 8549 LGR5 leucine-rich repeat containing G protein-coupled receptor 5 umls:C0009375 Colonic Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 4015 LOX lysyl oxidase umls:C0019202 Hepatolenticular Degeneration 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4023 LPL lipoprotein lipase umls:C0033578 Prostatic Neoplasms 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 116135 LRRC3B leucine rich repeat containing 3B umls:C0038356 Stomach Neoplasms 0.212806081634823 1 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 11178 LZTS1 leucine zipper, putative tumor suppressor 1 umls:C0033578 Prostatic Neoplasms 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4118 MAL mal, T-cell differentiation protein umls:C0007137 Carcinoma, Squamous Cell 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 1326 MAP3K8 mitogen-activated protein kinase kinase kinase 8 umls:C0024121 Lung Neoplasms 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1432 MAPK14 mitogen-activated protein kinase 14 umls:C0024121 Lung Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4192 MDK midkine (neurite growth-promoting factor 2) umls:C0017638 Glioma 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 4256 MGP matrix Gla protein umls:C0042345 Varicose Veins 0.212806081634823 1 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C1458155 Breast Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0034069 Pulmonary Fibrosis 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0017661 Glomerulonephritis, IGA 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0025500 Mesothelioma 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C0007194 Cardiomyopathy, Hypertrophic 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 9499 MYOT myotilin umls:C0031117 Peripheral Nervous System Diseases 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4669 NAGLU N-acetylglucosaminidase, alpha umls:C0026706 Mucopolysaccharidosis III 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 10499 NCOA2 nuclear receptor coactivator 2 umls:C1458155 Breast Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8202 NCOA3 nuclear receptor coactivator 3 umls:C0007137 Carcinoma, Squamous Cell 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8202 NCOA3 nuclear receptor coactivator 3 umls:C0033578 Prostatic Neoplasms 0.212806081634823 4 Biomarker BeFree, CTD_human, LHGDN 10397 NDRG1 N-myc downstream regulated 1 umls:C1458155 Breast Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 10397 NDRG1 N-myc downstream regulated 1 umls:C0033578 Prostatic Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 4838 NODAL nodal growth differentiation factor umls:C0079541 Holoprosencephaly 0.212806081634823 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 4854 NOTCH3 notch 3 umls:C0024121 Lung Neoplasms 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 4855 NOTCH4 notch 4 umls:C1458155 Breast Neoplasms 0.212806081634823 4 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 27035 NOX1 NADPH oxidase 1 umls:C0009375 Colonic Neoplasms 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0033578 Prostatic Neoplasms 0.212806081634823 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 64324 NSD1 nuclear receptor binding SET domain protein 1 umls:C3714756 Intellectual Disability 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5047 PAEP progestagen-associated endometrial protein umls:C1458155 Breast Neoplasms 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 56924 PAK6 p21 protein (Cdc42/Rac)-activated kinase 6 umls:C0033578 Prostatic Neoplasms 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5078 PAX4 paired box 4 umls:C0025202 Melanoma 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 2923 PDIA3 protein disulfide isomerase family A, member 3 umls:C0027651 Neoplasms 0.212806081634823 3 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 8572 PDLIM4 PDZ and LIM domain 4 umls:C0029456 Osteoporosis 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 8863 PER3 period circadian clock 3 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.212806081634823 1 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5292 PIM1 Pim-1 proto-oncogene, serine/threonine kinase umls:C0282612 Prostatic Intraepithelial Neoplasia 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5328 PLAU plasminogen activator, urokinase umls:C0007138 Carcinoma, Transitional Cell 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5328 PLAU plasminogen activator, urokinase umls:C1800706 Idiopathic Pulmonary Fibrosis 0.212806081634823 1 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 5443 POMC proopiomelanocortin umls:C0029456 Osteoporosis 0.212806081634823 7 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 5444 PON1 paraoxonase 1 umls:C0017662 Glomerulonephritis, Membranoproliferative 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0022116 Ischemia 0.212806081634823 4 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 10084 PQBP1 polyglutamine binding protein 1 umls:C0025958 Microcephaly 0.212806081634823 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 8842 PROM1 prominin 1 umls:C0009404 Colorectal Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5793 PTPRG protein tyrosine phosphatase, receptor type, G umls:C0038356 Stomach Neoplasms 0.212806081634823 1 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C0007097 Carcinoma 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 8434 RECK reversion-inducing-cysteine-rich protein with kazal motifs umls:C0009375 Colonic Neoplasms 0.212806081634823 1 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 221035 REEP3 receptor accessory protein 3 umls:C0004352 Autistic Disorder 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 6103 RPGR retinitis pigmentosa GTPase regulator umls:C0242383 Macular Degeneration 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 83597 RTP3 receptor (chemosensory) transporter protein 3 umls:C2239176 Carcinoma, Hepatocellular 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 6259 RYK receptor-like tyrosine kinase umls:C0008925 Cleft Palate 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6447 SCG5 secretogranin V (7B2 protein) umls:C0025149 Medulloblastoma 0.212806081634823 1 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6340 SCNN1G sodium channel, non voltage gated 1 gamma subunit umls:C0033805 Pseudohypoaldosteronism 0.212806081634823 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6401 SELE selectin E umls:C0011615 Dermatitis, Atopic 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 8991 SELENBP1 selenium binding protein 1 umls:C0919267 Ovarian Neoplasms 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0015695 Fatty Liver 0.212806081634823 3 Biomarker BeFree, CTD_human, LHGDN 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0033578 Prostatic Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 5176 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 umls:C0042164 Uveitis 0.212806081634823 3 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 6502 SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase umls:C0919267 Ovarian Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 113235 SLC46A1 solute carrier family 46 (folate transporter), member 1 umls:C0024523 Malabsorption Syndromes 0.212806081634823 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 200931 SLC51A solute carrier family 51, alpha subunit umls:C0008370 Cholestasis 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 123264 SLC51B solute carrier family 51, beta subunit umls:C0008370 Cholestasis 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 9353 SLIT2 slit homolog 2 (Drosophila) umls:C2239176 Carcinoma, Hepatocellular 0.212806081634823 1 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0009404 Colorectal Neoplasms 0.212806081634823 4 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0025500 Mesothelioma 0.212806081634823 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0919267 Ovarian Neoplasms 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 3925 STMN1 stathmin 1 umls:C0007097 Carcinoma 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 6876 TAGLN transgelin umls:C0009375 Colonic Neoplasms 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0011881 Diabetic Nephropathies 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 7079 TIMP4 TIMP metallopeptidase inhibitor 4 umls:C0033578 Prostatic Neoplasms 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 7097 TLR2 toll-like receptor 2 umls:C0009404 Colorectal Neoplasms 0.212806081634823 3 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 91147 TMEM67 transmembrane protein 67 umls:C0752166 Bardet-Biedl Syndrome 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3371 TNC tenascin C umls:C0014175 Endometriosis 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0009375 Colonic Neoplasms 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 55504 TNFRSF19 tumor necrosis factor receptor superfamily, member 19 umls:C0025202 Melanoma 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0009404 Colorectal Neoplasms 0.212806081634823 3 Biomarker, Therapeutic BeFree, CTD_human, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0919267 Ovarian Neoplasms 0.212806081634823 3 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human, LHGDN 8600 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 7153 TOP2A topoisomerase (DNA) II alpha 170kDa umls:C0017638 Glioma 0.212806081634823 3 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7170 TPM3 tropomyosin 3 umls:C0007097 Carcinoma 0.212806081634823 4 Biomarker BeFree, CTD_human, LHGDN 7249 TSC2 tuberous sclerosis 2 umls:C0007137 Carcinoma, Squamous Cell 0.212806081634823 2 Biomarker BeFree, CTD_human, LHGDN 7298 TYMS thymidylate synthetase umls:C0206754 Neuroendocrine Tumors 0.212806081634823 2 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 7328 UBE2H ubiquitin-conjugating enzyme E2H umls:C0004352 Autistic Disorder 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 81029 WNT5B wingless-type MMTV integration site family, member 5B umls:C0023267 Leiomyoma 0.212806081634823 1 AlteredExpression, Biomarker BeFree, CTD_human, LHGDN 54739 XAF1 XIAP associated factor 1 umls:C0038356 Stomach Neoplasms 0.212806081634823 2 Biomarker, PostTranslationalModification BeFree, CTD_human, LHGDN 23414 ZFPM2 zinc finger protein, FOG family member 2 umls:C0019284 Hernia, Diaphragmatic 0.212806081634823 2 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 80317 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 umls:C0009404 Colorectal Neoplasms 0.212806081634823 1 Biomarker BeFree, CTD_human, LHGDN 641339 ZNF674 zinc finger protein 674 umls:C1136249 Mental Retardation, X-Linked 0.212806081634823 1 Biomarker, GeneticVariation BeFree, CTD_human, LHGDN 3315 HSPB1 heat shock 27kDa protein 1 umls:C0007959 Charcot-Marie-Tooth Disease 0.212797839439184 12 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 6833 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 umls:C0158981 Neonatal diabetes mellitus 0.212757705654215 45 Biomarker, GeneticVariation BeFree, CLINVAR 18 ABAT 4-aminobutyrate aminotransferase umls:C0004352 Autistic Disorder 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C0008924 Cleft Lip 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1636 ACE angiotensin I converting enzyme umls:C0013182 Drug Hypersensitivity 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 185 AGTR1 angiotensin II receptor, type 1 umls:C0013274 Ductus Arteriosus, Patent 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 240 ALOX5 arachidonate 5-lipoxygenase umls:C0009376 Colonic Polyps 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 270 AMPD1 adenosine monophosphate deaminase 1 umls:C0026848 Muscular Diseases 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 51129 ANGPTL4 angiopoietin-like 4 umls:C0242339 Dyslipidemias 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 196527 ANO6 anoctamin 6 umls:C0038013 Spondylitis, Ankylosing 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 306 ANXA3 annexin A3 umls:C0003873 Arthritis, Rheumatoid 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 40 ASIC2 acid sensing (proton gated) ion channel 2 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0023895 Liver Diseases 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6795 AURKC aurora kinase C umls:C0021364 Infertility, Male 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 29086 BABAM1 BRISC and BRCA1 A complex member 1 umls:C0919267 Ovarian Neoplasms 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0023903 Liver Neoplasms 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 675 BRCA2 breast cancer 2, early onset umls:C0027708 Wilms Tumor 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 842 CASP9 caspase 9, apoptosis-related cysteine peptidase umls:C0033578 Prostatic Neoplasms 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 847 CAT catalase umls:C0023891 Liver Cirrhosis, Alcoholic 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 875 CBS cystathionine-beta-synthase umls:C0162429 Malnutrition 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0023890 Liver Cirrhosis 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 894 CCND2 cyclin D2 umls:C0011860 Diabetes Mellitus, Type 2 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23607 CD2AP CD2-associated protein umls:C0002395 Alzheimer Disease 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0014548 Epilepsy, Generalized 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23562 CLDN14 claudin 14 umls:C0022650 Kidney Calculi 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 26047 CNTNAP2 contactin associated protein-like 2 umls:C0023014 Language Development Disorders 0.212600572089441 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1277 COL1A1 collagen, type I, alpha 1 umls:C0023890 Liver Cirrhosis 0.212600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1278 COL1A2 collagen, type I, alpha 2 umls:C0029172 Oral Submucous Fibrosis 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1281 COL3A1 collagen, type III, alpha 1 umls:C0023890 Liver Cirrhosis 0.212600572089441 6 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1299 COL9A3 collagen, type IX, alpha 3 umls:C0158252 Intervertebral disc disease 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1356 CP ceruloplasmin (ferroxidase) umls:C0011854 Diabetes Mellitus, Type 1 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 64478 CSMD1 CUB and Sushi multiple domains 1 umls:C0033860 Psoriasis 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1471 CST3 cystatin C umls:C0029172 Oral Submucous Fibrosis 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C0029172 Oral Submucous Fibrosis 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3579 CXCR2 chemokine (C-X-C motif) receptor 2 umls:C0009324 Colitis, Ulcerative 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0004352 Autistic Disorder 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1557 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 umls:C0085215 Primary Ovarian Insufficiency 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 153090 DAB2IP DAB2 interacting protein umls:C0162871 Aortic Aneurysm, Abdominal 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1611 DAP death-associated protein umls:C0009324 Colitis, Ulcerative 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23564 DDAH2 dimethylarginine dimethylaminohydrolase 2 umls:C1956346 Coronary Artery Disease 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1719 DHFR dihydrofolate reductase umls:C0016412 Folic Acid Deficiency 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1813 DRD2 dopamine receptor D2 umls:C0021122 Impulse Control Disorders 0.212600572089441 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1816 DRD5 dopamine receptor D5 umls:C0005747 Blepharospasm 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2067 ERCC1 excision repair cross-complementation group 1 umls:C0031117 Peripheral Nervous System Diseases 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2068 ERCC2 excision repair cross-complementation group 2 umls:C0037274 Skin Diseases 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0010068 Coronary Disease 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2147 F2 coagulation factor II (thrombin) umls:C0002395 Alzheimer Disease 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2152 F3 coagulation factor III (thromboplastin, tissue factor) umls:C0151744 Myocardial Ischemia 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0019087 Hemorrhagic Disorders 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0040038 Thromboembolism 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9855 FARP2 FERM, RhoGEF and pleckstrin domain protein 2 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 355 FAS Fas cell surface death receptor umls:C0011860 Diabetes Mellitus, Type 2 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54620 FBXL19 F-box and leucine-rich repeat protein 19 umls:C0003872 Arthritis, Psoriatic 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2255 FGF10 fibroblast growth factor 10 umls:C0033578 Prostatic Neoplasms 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0036341 Schizophrenia 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2488 FSHB follicle stimulating hormone, beta polypeptide umls:C0021364 Infertility, Male 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2643 GCH1 GTP cyclohydrolase 1 umls:C0020538 Hypertension 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9518 GDF15 growth differentiation factor 15 umls:C0149721 Hypertrophy, Left Ventricular 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2768 GNA12 guanine nucleotide binding protein (G protein) alpha 12 umls:C0009324 Colitis, Ulcerative 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2262 GPC5 glypican 5 umls:C0027726 Nephrotic Syndrome 0.212600572089441 1 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 2876 GPX1 glutathione peroxidase 1 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2888 GRB14 growth factor receptor-bound protein 14 umls:C0011860 Diabetes Mellitus, Type 2 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2944 GSTM1 glutathione S-transferase mu 1 umls:C0034734 Raynaud Disease 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 57531 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 umls:C0027819 Neuroblastoma 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3106 HLA-B major histocompatibility complex, class I, B umls:C0017638 Glioma 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0042109 Urticaria 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0017665 Glomerulonephritis, Membranous 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0085179 Eosinophilia-Myalgia Syndrome 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0028754 Obesity 0.212600572089441 5 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3176 HNMT histamine N-methyltransferase umls:C0042109 Urticaria 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3237 HOXD11 homeobox D11 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3352 HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled umls:C0004352 Autistic Disorder 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3359 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 170572 HTR3C 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3361 HTR5A 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0035235 Respiratory Syncytial Virus Infections 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 23308 ICOSLG inducible T-cell co-stimulator ligand umls:C0009324 Colitis, Ulcerative 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3458 IFNG interferon, gamma umls:C0018801 Heart Failure 0.212600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3459 IFNGR1 interferon gamma receptor 1 umls:C0019163 Hepatitis B 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3552 IL1A interleukin 1, alpha umls:C0003165 Anthracosis 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3553 IL1B interleukin 1, beta umls:C0009375 Colonic Neoplasms 0.212600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7850 IL1R2 interleukin 1 receptor, type II umls:C0038013 Spondylitis, Ankylosing 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3557 IL1RN interleukin 1 receptor antagonist umls:C0085129 Bronchial Hyperreactivity 0.212600572089441 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 3565 IL4 interleukin 4 umls:C0162820 Dermatitis, Allergic Contact 0.212600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3569 IL6 interleukin 6 umls:C0002622 Amnesia 0.212600572089441 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 55600 ITLN1 intelectin 1 (galactofuranose binding) umls:C0011860 Diabetes Mellitus, Type 2 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3875 KRT18 keratin 18, type I umls:C0162557 Liver Failure, Acute 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3856 KRT8 keratin 8, type II umls:C0162557 Liver Failure, Acute 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 3927 LASP1 LIM and SH3 protein 1 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 84648 LCE3D late cornified envelope 3D umls:C0033860 Psoriasis 0.212600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4018 LPA lipoprotein, Lp(a) umls:C0040038 Thromboembolism 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4049 LTA lymphotoxin alpha umls:C0023343 Leprosy 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4057 LTF lactotransferrin umls:C0011991 Diarrhea 0.212600572089441 2 GeneticVariation, Therapeutic BeFree, CTD_human, GAD 11178 LZTS1 leucine zipper, putative tumor suppressor 1 umls:C0014859 Esophageal Neoplasms 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 140733 MACROD2 MACRO domain containing 2 umls:C0004352 Autistic Disorder 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10296 MAEA macrophage erythroblast attacher umls:C0011860 Diabetes Mellitus, Type 2 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9935 MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B umls:C0008924 Cleft Lip 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4129 MAOB monoamine oxidase B umls:C0004352 Autistic Disorder 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4210 MEFV Mediterranean fever umls:C0003872 Arthritis, Psoriatic 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 100507436 MICA MHC class I polypeptide-related sequence A umls:C0029172 Oral Submucous Fibrosis 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8028 MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 umls:C0025286 Meningioma 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0029172 Oral Submucous Fibrosis 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4336 MOBP myelin-associated oligodendrocyte basic protein umls:C0038868 Supranuclear Palsy, Progressive 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4353 MPO myeloperoxidase umls:C0023891 Liver Cirrhosis, Alcoholic 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4353 MPO myeloperoxidase umls:C0032927 Precancerous Conditions 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0009081 Clubfoot 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C1856061 Methylenetetrahydrofolate reductase deficiency 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0206064 Microvascular Angina 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0021364 Infertility, Male 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4642 MYO1D myosin ID umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4803 NGF nerve growth factor (beta polypeptide) umls:C0027889 Hereditary Sensory and Autonomic Neuropathies 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4825 NKX6-1 NK6 homeobox 1 umls:C0011860 Diabetes Mellitus, Type 2 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0022658 Kidney Diseases 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0020459 Hyperinsulinism 0.212600572089441 2 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 4862 NPAS2 neuronal PAS domain protein 2 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4835 NQO2 NAD(P)H dehydrogenase, quinone 2 umls:C0001824 Agranulocytosis 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C0021364 Infertility, Male 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9378 NRXN1 neurexin 1 umls:C0023014 Language Development Disorders 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 64324 NSD1 nuclear receptor binding SET domain protein 1 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0004352 Autistic Disorder 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5017 OVOL1 ovo-like zinc finger 1 umls:C0011615 Dermatitis, Atopic 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5062 PAK2 p21 protein (Cdc42/Rac)-activated kinase 2 umls:C0036341 Schizophrenia 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5079 PAX5 paired box 5 umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5080 PAX6 paired box 6 umls:C0011860 Diabetes Mellitus, Type 2 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5187 PER1 period circadian clock 1 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5307 PITX1 paired-like homeodomain 1 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 440822 PIWIL3 piwi-like RNA-mediated gene silencing 3 umls:C0028960 Oligospermia 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 143689 PIWIL4 piwi-like RNA-mediated gene silencing 4 umls:C0028960 Oligospermia 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 51196 PLCE1 phospholipase C, epsilon 1 umls:C0001418 Adenocarcinoma 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 51196 PLCE1 phospholipase C, epsilon 1 umls:C0019100 Severe Dengue 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 122618 PLD4 phospholipase D family, member 4 umls:C0003873 Arthritis, Rheumatoid 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5443 POMC proopiomelanocortin umls:C0018801 Heart Failure 0.212600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5444 PON1 paraoxonase 1 umls:C0080178 Spinal Dysraphism 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5617 PRL prolactin umls:C0018801 Heart Failure 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5727 PTCH1 patched 1 umls:C0008924 Cleft Lip 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5740 PTGIS prostaglandin I2 (prostacyclin) synthase umls:C0013274 Ductus Arteriosus, Patent 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 2185 PTK2B protein tyrosine kinase 2 beta umls:C0037286 Skin Neoplasms 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5923 RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 umls:C0027092 Myopia 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5934 RBL2 retinoblastoma-like 2 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 222546 RFX6 regulatory factor X, 6 umls:C0033578 Prostatic Neoplasms 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 64221 ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54538 ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila) umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6121 RPE65 retinal pigment epithelium-specific protein 65kDa umls:C0917796 Optic Atrophy, Hereditary, Leber 0.212600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6134 RPL10 ribosomal protein L10 umls:C0004352 Autistic Disorder 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 5271 SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 umls:C0033860 Psoriasis 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 26470 SEZ6L2 seizure related 6 homolog (mouse)-like 2 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10019 SH2B3 SH2B adaptor protein 3 umls:C1956346 Coronary Artery Disease 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 10019 SH2B3 SH2B adaptor protein 3 umls:C0024141 Lupus Erythematosus, Systemic 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 27044 SND1 staphylococcal nuclease and tudor domain containing 1 umls:C0004352 Autistic Disorder 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0021364 Infertility, Male 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0242992 Multiple Chemical Sensitivity 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0032927 Precancerous Conditions 0.212600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C0023890 Liver Cirrhosis 0.212600572089441 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human, GAD 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C0002949 Aneurysm, Dissecting 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0002893 Anemia, Refractory 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0029172 Oral Submucous Fibrosis 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7128 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 umls:C0026769 Multiple Sclerosis 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8764 TNFRSF14 tumor necrosis factor receptor superfamily, member 14 umls:C0007570 Celiac Disease 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 8740 TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 umls:C0026769 Multiple Sclerosis 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 57761 TRIB3 tribbles pseudokinase 3 umls:C0524620 Metabolic Syndrome X 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7253 TSHR thyroid stimulating hormone receptor umls:C0920350 Thyroiditis, Autoimmune 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 25828 TXN2 thioredoxin 2 umls:C0080178 Spinal Dysraphism 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7298 TYMS thymidylate synthetase umls:C0008924 Cleft Lip 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7298 TYMS thymidylate synthetase umls:C0008925 Cleft Palate 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7325 UBE2E2 ubiquitin-conjugating enzyme E2E 2 umls:C0011860 Diabetes Mellitus, Type 2 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 54986 ULK4 unc-51 like kinase 4 umls:C0026764 Multiple Myeloma 0.212600572089441 1 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0041948 Uremia 0.212600572089441 3 Biomarker, GeneticVariation BeFree, CTD_human, GAD 9559 VPS26A vacuolar protein sorting 26 homolog A (S. pombe) umls:C0011860 Diabetes Mellitus, Type 2 0.212600572089441 2 Biomarker, GeneticVariation BeFree, CTD_human, GAD 7507 XPA xeroderma pigmentosum, complementation group A umls:C0037286 Skin Neoplasms 0.212600572089441 4 Biomarker, GeneticVariation BeFree, CTD_human, GAD 1033 CDKN3 cyclin-dependent kinase inhibitor 3 umls:C2239176 Carcinoma, Hepatocellular 0.212551541130843 9 Biomarker, GeneticVariation BeFree, UNIPROT 199713 NLRP7 NLR family, pyrin domain containing 7 umls:C3463897 HYDATIDIFORM MOLE, RECURRENT, 1 0.212551541130843 9 Biomarker, GeneticVariation BeFree, UNIPROT 213 ALB albumin umls:C0019693 HIV Infections 0.212551541130843 10 AlteredExpression, Biomarker BeFree, CTD_human 364 AQP7 aquaporin 7 umls:C0028754 Obesity 0.212551541130843 10 Biomarker BeFree, CTD_human 64919 BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.212551541130843 10 Biomarker, GeneticVariation BeFree, CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.212551541130843 10 Biomarker BeFree, CTD_human 29126 CD274 CD274 molecule umls:C2239176 Carcinoma, Hepatocellular 0.212551541130843 10 Biomarker BeFree, CTD_human 1019 CDK4 cyclin-dependent kinase 4 umls:C0023827 Liposarcoma 0.212551541130843 10 Biomarker, Therapeutic BeFree, CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0023903 Liver Neoplasms 0.212551541130843 11 Biomarker BeFree, CTD_human 84181 CHD6 chromodomain helicase DNA binding protein 6 umls:C0027819 Neuroblastoma 0.212551541130843 9 Biomarker BeFree, CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0001627 Adrenal Hyperplasia, Congenital 0.212551541130843 10 Biomarker BeFree, CTD_human 2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase umls:C2239176 Carcinoma, Hepatocellular 0.212551541130843 11 Biomarker BeFree, CTD_human 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0014544 Epilepsy 0.212551541130843 9 Biomarker BeFree, CTD_human 283120 H19 H19, imprinted maternally expressed transcript (non-protein coding) umls:C0175693 Silver-Russell Syndrome 0.212551541130843 10 Biomarker BeFree, CTD_human 3020 H3F3A H3 histone, family 3A umls:C0017636 Glioblastoma 0.212551541130843 10 Biomarker, GeneticVariation BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0023903 Liver Neoplasms 0.212551541130843 13 Biomarker BeFree, CTD_human 140805 HT Hashimoto thyroiditis umls:C0677607 Hashimoto Disease 0.212551541130843 9 Biomarker, GeneticVariation BeFree, CTD_human 3667 IRS1 insulin receptor substrate 1 umls:C0020459 Hyperinsulinism 0.212551541130843 9 Biomarker, GeneticVariation BeFree, CTD_human 9365 KL klotho umls:C1956346 Coronary Artery Disease 0.212551541130843 9 Biomarker, GeneticVariation BeFree, CTD_human 3953 LEPR leptin receptor umls:C0032002 Pituitary Diseases 0.212551541130843 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 4005 LMO2 LIM domain only 2 (rhombotin-like 1) umls:C0023492 Leukemia, T-Cell 0.212551541130843 9 Biomarker BeFree, CTD_human 4851 NOTCH1 notch 1 umls:C0017636 Glioblastoma 0.212551541130843 10 Biomarker BeFree, CTD_human 4306 NR3C2 nuclear receptor subfamily 3, group C, member 2 umls:C0018801 Heart Failure 0.212551541130843 11 Biomarker BeFree, CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.212551541130843 9 Biomarker BeFree, CTD_human 5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.212551541130843 9 Biomarker BeFree, CTD_human 5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.212551541130843 9 Biomarker BeFree, CTD_human 29954 POMT2 protein-O-mannosyltransferase 2 umls:C0265221 Walker-Warburg Syndrome 0.212551541130843 9 Biomarker BeFree, CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0023903 Liver Neoplasms 0.212551541130843 10 Biomarker BeFree, CTD_human 710 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 umls:C2931758 Acquired angioedema 0.212551541130843 10 Biomarker, Therapeutic BeFree, CTD_human 6462 SHBG sex hormone-binding globulin umls:C0524620 Metabolic Syndrome X 0.212551541130843 10 Biomarker, GeneticVariation BeFree, CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0004364 Autoimmune Diseases 0.212551541130843 9 Biomarker BeFree, CTD_human 7039 TGFA transforming growth factor, alpha umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.212551541130843 10 Biomarker BeFree, CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0017636 Glioblastoma 0.212551541130843 10 Biomarker, Therapeutic BeFree, CTD_human 7515 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.212551541130843 9 Biomarker, GeneticVariation BeFree, CTD_human 7750 ZMYM2 zinc finger, MYM-type 2 umls:C0027022 Myeloproliferative Disorders 0.212551541130843 10 Biomarker BeFree, CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0242656 Disease Progression 0.212522577064729 2 Biomarker CTD_human, LHGDN 90 ACVR1 activin A receptor, type I umls:C0027122 Myositis Ossificans 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0020452 Hyperemia 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0151744 Myocardial Ischemia 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 132 ADK adenosine kinase umls:C0003130 Anoxia 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 153 ADRB1 adrenoceptor beta 1 umls:C0020452 Hyperemia 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 153 ADRB1 adrenoceptor beta 1 umls:C0242973 Ventricular Dysfunction 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 154 ADRB2 adrenoceptor beta 2, surface umls:C0020621 Hypokalemia 0.212522577064729 3 Biomarker, GeneticVariation CTD_human, LHGDN 154 ADRB2 adrenoceptor beta 2, surface umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 177 AGER advanced glycosylation end product-specific receptor umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0019284 Hernia, Diaphragmatic 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0020564 Hypertrophy 0.212522577064729 4 AlteredExpression, Biomarker CTD_human, LHGDN 185 AGTR1 angiotensin II receptor, type 1 umls:C0000786 Abortion, Spontaneous 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 196 AHR aryl hydrocarbon receptor umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 196 AHR aryl hydrocarbon receptor umls:C0027651 Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 196 AHR aryl hydrocarbon receptor umls:C0038356 Stomach Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 204 AK2 adenylate kinase 2 umls:C0011053 Deafness 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 1645 AKR1C1 aldo-keto reductase family 1, member C1 umls:C0014170 Endometrial Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 8644 AKR1C3 aldo-keto reductase family 1, member C3 umls:C0014170 Endometrial Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 249 ALPL alkaline phosphatase, liver/bone/kidney umls:C0023895 Liver Diseases 0.212522577064729 2 Biomarker CTD_human, LHGDN 284 ANGPT1 angiopoietin 1 umls:C0016059 Fibrosis 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 335 APOA1 apolipoprotein A-I umls:C0001418 Adenocarcinoma 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 335 APOA1 apolipoprotein A-I umls:C0024121 Lung Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 348 APOE apolipoprotein E umls:C0024121 Lung Neoplasms 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 358 AQP1 aquaporin 1 (Colton blood group) umls:C0007097 Carcinoma 0.212522577064729 2 Biomarker CTD_human, LHGDN 361 AQP4 aquaporin 4 umls:C0004352 Autistic Disorder 0.212522577064729 1 Biomarker CTD_human, LHGDN 384 ARG2 arginase 2 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 10550 ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5 umls:C0038356 Stomach Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 405 ARNT aryl hydrocarbon receptor nuclear translocator umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.212522577064729 2 Biomarker, PostTranslationalModification CTD_human, LHGDN 1386 ATF2 activating transcription factor 2 umls:C0027651 Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 498 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle umls:C0002395 Alzheimer Disease 0.212522577064729 2 Biomarker CTD_human, LHGDN 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0919267 Ovarian Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 342371 ATXN1L ataxin 1-like umls:C0087012 Spinocerebellar Ataxias 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 551 AVP arginine vasopressin umls:C0020625 Hyponatremia 0.212522577064729 2 Biomarker CTD_human, LHGDN 563 AZGP1 alpha-2-glycoprotein 1, zinc-binding umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 567 B2M beta-2-microglobulin umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 581 BAX BCL2-associated X protein umls:C0014859 Esophageal Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 597 BCL2A1 BCL2-related protein A1 umls:C1458155 Breast Neoplasms 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 598 BCL2L1 BCL2-like 1 umls:C0018671 Head and Neck Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 623 BDKRB1 bradykinin receptor B1 umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 8678 BECN1 beclin 1, autophagy related umls:C0009375 Colonic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 329 BIRC2 baculoviral IAP repeat containing 2 umls:C0038356 Stomach Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 330 BIRC3 baculoviral IAP repeat containing 3 umls:C0005695 Urinary Bladder Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 658 BMPR1B bone morphogenetic protein receptor, type IB umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 659 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) umls:C1458155 Breast Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 23705 CADM1 cell adhesion molecule 1 umls:C0004352 Autistic Disorder 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0007786 Brain Ischemia 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 847 CAT catalase umls:C0027651 Neoplasms 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 885 CCK cholecystokinin umls:C0242216 Gallstones 0.212522577064729 2 Biomarker CTD_human, LHGDN 6363 CCL19 chemokine (C-C motif) ligand 19 umls:C0162820 Dermatitis, Allergic Contact 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 10666 CD226 CD226 molecule umls:C0009404 Colorectal Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 960 CD44 CD44 molecule (Indian blood group) umls:C0023487 Leukemia, Promyelocytic, Acute 0.212522577064729 3 Biomarker, PostTranslationalModification, Therapeutic CTD_human, LHGDN 925 CD8A CD8a molecule umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.212522577064729 1 Biomarker CTD_human, LHGDN 928 CD9 CD9 molecule umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0014170 Endometrial Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 1012 CDH13 cadherin 13 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 1000 CDH2 cadherin 2, type 1, N-cadherin (neuronal) umls:C0038356 Stomach Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0038356 Stomach Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 1050 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha umls:C0007137 Carcinoma, Squamous Cell 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 1052 CEBPD CCAAT/enhancer binding protein (C/EBP), delta umls:C0023467 Leukemia, Myeloid, Acute 0.212522577064729 1 Biomarker, PostTranslationalModification CTD_human, LHGDN 1063 CENPF centromere protein F, 350/400kDa umls:C1458155 Breast Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 11200 CHEK2 checkpoint kinase 2 umls:C0242788 Breast Neoplasms, Male 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 1116 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) umls:C0027626 Neoplasm Invasiveness 0.212522577064729 2 Biomarker CTD_human, LHGDN 1129 CHRM2 cholinergic receptor, muscarinic 2 umls:C0005697 Urinary Bladder, Neurogenic 0.212522577064729 2 Biomarker, Therapeutic CTD_human, LHGDN 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C0004352 Autistic Disorder 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0024121 Lung Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 1365 CLDN3 claudin 3 umls:C0038356 Stomach Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 1366 CLDN7 claudin 7 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0023890 Liver Cirrhosis 0.212522577064729 3 Biomarker CTD_human, LHGDN 1280 COL2A1 collagen, type II, alpha 1 umls:C0029422 Osteochondrodysplasias 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 1280 COL2A1 collagen, type II, alpha 1 umls:C0039103 Synovitis 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 1297 COL9A1 collagen, type IX, alpha 1 umls:C0029422 Osteochondrodysplasias 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 1356 CP ceruloplasmin (ferroxidase) umls:C0032914 Pre-Eclampsia 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 8895 CPNE3 copine III umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker CTD_human, LHGDN 1401 CRP C-reactive protein, pentraxin-related umls:C0024121 Lung Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 1401 CRP C-reactive protein, pentraxin-related umls:C0040053 Thrombosis 0.212522577064729 2 Biomarker CTD_human, LHGDN 1410 CRYAB crystallin, alpha B umls:C0007137 Carcinoma, Squamous Cell 0.212522577064729 2 Biomarker CTD_human, LHGDN 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0024305 Lymphoma, Non-Hodgkin 0.212522577064729 4 AlteredExpression, Therapeutic CTD_human, LHGDN 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0334634 Lymphoma, Mantle-Cell 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 6376 CX3CL1 chemokine (C-X3-C motif) ligand 1 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0023892 Liver Cirrhosis, Biliary 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0043251 Wounds and Injuries 0.212522577064729 2 Biomarker CTD_human, LHGDN 4283 CXCL9 chemokine (C-X-C motif) ligand 9 umls:C0023892 Liver Cirrhosis, Biliary 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2833 CXCR3 chemokine (C-X-C motif) receptor 3 umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0024121 Lung Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 1557 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 1576 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 umls:C0029463 Osteosarcoma 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 64816 CYP3A43 cytochrome P450, family 3, subfamily A, polypeptide 43 umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 153090 DAB2IP DAB2 interacting protein umls:C0024121 Lung Neoplasms 0.212522577064729 2 Biomarker, PostTranslationalModification CTD_human, LHGDN 1605 DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 131566 DCBLD2 discoidin, CUB and LCCL domain containing 2 umls:C0038356 Stomach Neoplasms 0.212522577064729 1 Biomarker, PostTranslationalModification CTD_human, LHGDN 51181 DCXR dicarbonyl/L-xylulose reductase umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 1687 DFNA5 deafness, autosomal dominant 5 umls:C1384666 Hearing Loss 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 1789 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 1789 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta umls:C0038356 Stomach Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 81704 DOCK8 dedicator of cytokinesis 8 umls:C3714756 Intellectual Disability 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 1806 DPYD dihydropyrimidine dehydrogenase umls:C0024121 Lung Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 1906 EDN1 endothelin 1 umls:C0020649 Hypotension 0.212522577064729 3 AlteredExpression, Therapeutic CTD_human, LHGDN 1910 EDNRB endothelin receptor type B umls:C1458155 Breast Neoplasms 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 1938 EEF2 eukaryotic translation elongation factor 2 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 2202 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 umls:C1458155 Breast Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 1958 EGR1 early growth response 1 umls:C0003130 Anoxia 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 8667 EIF3H eukaryotic translation initiation factor 3, subunit H umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 10495 ENOX2 ecto-NOX disulfide-thiol exchanger 2 umls:C0027651 Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 954 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 umls:C0023892 Liver Cirrhosis, Biliary 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 2033 EP300 E1A binding protein p300 umls:C0014170 Endometrial Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 4072 EPCAM epithelial cell adhesion molecule umls:C0919267 Ovarian Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2041 EPHA1 EPH receptor A1 umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 2056 EPO erythropoietin umls:C0040136 Thyroid Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 2057 EPOR erythropoietin receptor umls:C0027627 Neoplasm Metastasis 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2057 EPOR erythropoietin receptor umls:C0040136 Thyroid Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 2072 ERCC4 excision repair cross-complementation group 4 umls:C0039590 Testicular Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0005695 Urinary Bladder Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 51466 EVL Enah/Vasp-like umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 51466 EVL Enah/Vasp-like umls:C0009404 Colorectal Neoplasms 0.212522577064729 3 Biomarker, GeneticVariation CTD_human, LHGDN 2149 F2R coagulation factor II (thrombin) receptor umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 2149 F2R coagulation factor II (thrombin) receptor umls:C0023890 Liver Cirrhosis 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 2152 F3 coagulation factor III (thromboplastin, tissue factor) umls:C0027726 Nephrotic Syndrome 0.212522577064729 2 Biomarker CTD_human, LHGDN 2166 FAAH fatty acid amide hydrolase umls:C0020179 Huntington Disease 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2167 FABP4 fatty acid binding protein 4, adipocyte umls:C0007097 Carcinoma 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0004153 Atherosclerosis 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0878544 Cardiomyopathies 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2205 FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide umls:C0042109 Urticaria 0.212522577064729 3 Biomarker CTD_human, LHGDN 2212 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) umls:C0040053 Thrombosis 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0029172 Oral Submucous Fibrosis 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0031030 Periapical Periodontitis 0.212522577064729 1 Biomarker CTD_human, LHGDN 2248 FGF3 fibroblast growth factor 3 umls:C0008924 Cleft Lip 0.212522577064729 2 Biomarker CTD_human, LHGDN 2252 FGF7 fibroblast growth factor 7 umls:C0008924 Cleft Lip 0.212522577064729 2 Biomarker CTD_human, LHGDN 2272 FHIT fragile histidine triad umls:C0025500 Mesothelioma 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 201163 FLCN folliculin umls:C0009404 Colorectal Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 2356 FPGS folylpolyglutamate synthase umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 5349 FXYD3 FXYD domain containing ion transport regulator 3 umls:C0030297 Pancreatic Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 1647 GADD45A growth arrest and DNA-damage-inducible, alpha umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 79695 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 umls:C0009404 Colorectal Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 2621 GAS6 growth arrest-specific 6 umls:C0040053 Thrombosis 0.212522577064729 4 Biomarker CTD_human, LHGDN 2520 GAST gastrin umls:C0024121 Lung Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2626 GATA4 GATA binding protein 4 umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 Biomarker, PostTranslationalModification CTD_human, LHGDN 140628 GATA5 GATA binding protein 5 umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 Biomarker, PostTranslationalModification CTD_human, LHGDN 2670 GFAP glial fibrillary acidic protein umls:C0017639 Gliosis 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 8836 GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2690 GHR growth hormone receptor umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0004352 Autistic Disorder 0.212522577064729 1 Biomarker CTD_human, LHGDN 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0024121 Lung Neoplasms 0.212522577064729 3 Biomarker CTD_human, LHGDN 56287 GKN1 gastrokine 1 umls:C0001418 Adenocarcinoma 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2736 GLI2 GLI family zinc finger 2 umls:C0007117 Carcinoma, Basal Cell 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2746 GLUD1 glutamate dehydrogenase 1 umls:C0220994 Hyperammonemia 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 10457 GPNMB glycoprotein (transmembrane) nmb umls:C1458155 Breast Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 2876 GPX1 glutathione peroxidase 1 umls:C0030567 Parkinson Disease 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 2876 GPX1 glutathione peroxidase 1 umls:C0005695 Urinary Bladder Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 9687 GREB1 growth regulation by estrogen in breast cancer 1 umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0009404 Colorectal Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 2932 GSK3B glycogen synthase kinase 3 beta umls:C0334634 Lymphoma, Mantle-Cell 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 2938 GSTA1 glutathione S-transferase alpha 1 umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 9446 GSTO1 glutathione S-transferase omega 1 umls:C0027651 Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0002736 Amyotrophic Lateral Sclerosis 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 2950 GSTP1 glutathione S-transferase pi 1 umls:C0007273 Carotid Artery Diseases 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 2981 GUCA2B guanylate cyclase activator 2B (uroguanylin) umls:C0027726 Nephrotic Syndrome 0.212522577064729 1 Biomarker CTD_human, LHGDN 1839 HBEGF heparin-binding EGF-like growth factor umls:C0035126 Reperfusion Injury 0.212522577064729 2 Biomarker CTD_human, LHGDN 1839 HBEGF heparin-binding EGF-like growth factor umls:C0038356 Stomach Neoplasms 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 3280 HES1 hes family bHLH transcription factor 1 umls:C1458155 Breast Neoplasms 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0020507 Hyperplasia 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0016059 Fibrosis 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0020507 Hyperplasia 0.212522577064729 2 Biomarker, Therapeutic CTD_human, LHGDN 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0043251 Wounds and Injuries 0.212522577064729 2 Biomarker CTD_human, LHGDN 3206 HOXA10 homeobox A10 umls:C0014170 Endometrial Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 55806 HR hair growth associated umls:C0002170 Alopecia 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 3283 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 3297 HSF1 heat shock transcription factor 1 umls:C0027651 Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7184 HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 3315 HSPB1 heat shock 27kDa protein 1 umls:C0009375 Colonic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 3315 HSPB1 heat shock 27kDa protein 1 umls:C0019693 HIV Infections 0.212522577064729 2 Biomarker CTD_human, LHGDN 3339 HSPG2 heparan sulfate proteoglycan 2 umls:C0029422 Osteochondrodysplasias 0.212522577064729 3 Biomarker, GeneticVariation CTD_human, LHGDN 3357 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled umls:C0018800 Cardiomegaly 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 3383 ICAM1 intercellular adhesion molecule 1 umls:C0043251 Wounds and Injuries 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0007097 Carcinoma 0.212522577064729 2 Biomarker CTD_human, LHGDN 3420 IDH3B isocitrate dehydrogenase 3 (NAD+) beta umls:C0035334 Retinitis Pigmentosa 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 3620 IDO1 indoleamine 2,3-dioxygenase 1 umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 3458 IFNG interferon, gamma umls:C0024121 Lung Neoplasms 0.212522577064729 2 GeneticVariation, Therapeutic CTD_human, LHGDN 3481 IGF2 insulin-like growth factor 2 umls:C0000786 Abortion, Spontaneous 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 22807 IKZF2 IKAROS family zinc finger 2 (Helios) umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 3586 IL10 interleukin 10 umls:C0033578 Prostatic Neoplasms 0.212522577064729 3 Biomarker, GeneticVariation CTD_human, LHGDN 3592 IL12A interleukin 12A umls:C1527336 Sjogren's Syndrome 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 3596 IL13 interleukin 13 umls:C0020507 Hyperplasia 0.212522577064729 2 Biomarker CTD_human, LHGDN 3603 IL16 interleukin 16 umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker CTD_human, LHGDN 3605 IL17A interleukin 17A umls:C0020517 Hypersensitivity 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 54756 IL17RD interleukin 17 receptor D umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 3606 IL18 interleukin 18 umls:C0018800 Cardiomegaly 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 3606 IL18 interleukin 18 umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 3557 IL1RN interleukin 1 receptor antagonist umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 3567 IL5 interleukin 5 umls:C0034069 Pulmonary Fibrosis 0.212522577064729 1 Biomarker CTD_human, LHGDN 3569 IL6 interleukin 6 umls:C0270611 Brain Injuries 0.212522577064729 4 Biomarker, GeneticVariation CTD_human, LHGDN 3624 INHBA inhibin, beta A umls:C0032914 Pre-Eclampsia 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 3630 INS insulin umls:C0020557 Hypertriglyceridemia 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0878544 Cardiomyopathies 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 55600 ITLN1 intelectin 1 (galactofuranose binding) umls:C0025500 Mesothelioma 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 3708 ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 182 JAG1 jagged 1 umls:C0011053 Deafness 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 3725 JUN jun proto-oncogene umls:C0009375 Colonic Neoplasms 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 3725 JUN jun proto-oncogene umls:C0024121 Lung Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 3728 JUP junction plakoglobin umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 9992 KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 umls:C0004238 Atrial Fibrillation 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 3791 KDR kinase insert domain receptor umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 9817 KEAP1 kelch-like ECH-associated protein 1 umls:C0016978 Gallbladder Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 3814 KISS1 KiSS-1 metastasis-suppressor umls:C0038356 Stomach Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C1458155 Breast Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 5655 KLK10 kallikrein-related peptidase 10 umls:C0038356 Stomach Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 606293 KLKP1 kallikrein pseudogene 1 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0004114 Astrocytoma 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 3915 LAMC1 laminin, gamma 1 (formerly LAMB2) umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 3934 LCN2 lipocalin 2 umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 51176 LEF1 lymphoid enhancer-binding factor 1 umls:C0036503 Sebaceous Gland Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 3953 LEPR leptin receptor umls:C0016059 Fibrosis 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 4017 LOXL2 lysyl oxidase-like 2 umls:C0019202 Hepatolenticular Degeneration 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 1241 LTB4R leukotriene B4 receptor umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 4057 LTF lactotransferrin umls:C0014175 Endometriosis 0.212522577064729 2 Biomarker CTD_human, LHGDN 4057 LTF lactotransferrin umls:C0021368 Inflammation 0.212522577064729 2 Biomarker, Therapeutic CTD_human, LHGDN 4057 LTF lactotransferrin umls:C0029456 Osteoporosis 0.212522577064729 2 Biomarker, Therapeutic CTD_human, LHGDN 4118 MAL mal, T-cell differentiation protein umls:C1458155 Breast Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 4217 MAP3K5 mitogen-activated protein kinase kinase kinase 5 umls:C0030567 Parkinson Disease 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 1432 MAPK14 mitogen-activated protein kinase 14 umls:C0878544 Cardiomyopathies 0.212522577064729 2 Biomarker CTD_human, LHGDN 4171 MCM2 minichromosome maintenance complex component 2 umls:C0009375 Colonic Neoplasms 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 4192 MDK midkine (neurite growth-promoting factor 2) umls:C0011881 Diabetic Nephropathies 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 80306 MED28 mediator complex subunit 28 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 10461 MERTK MER proto-oncogene, tyrosine kinase umls:C0040053 Thrombosis 0.212522577064729 1 Biomarker CTD_human, LHGDN 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0919267 Ovarian Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 8190 MIA melanoma inhibitory activity umls:C0038356 Stomach Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0004352 Autistic Disorder 0.212522577064729 1 Biomarker CTD_human, LHGDN 406938 MIR146A microRNA 146a umls:C1458155 Breast Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 406989 MIR206 microRNA 206 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 407007 MIR222 microRNA 222 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 4288 MKI67 marker of proliferation Ki-67 umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 4311 MME membrane metallo-endopeptidase umls:C1458155 Breast Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 4319 MMP10 matrix metallopeptidase 10 (stromelysin 2) umls:C0038356 Stomach Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0020507 Hyperplasia 0.212522577064729 2 Biomarker CTD_human, LHGDN 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0027626 Neoplasm Invasiveness 0.212522577064729 8 AlteredExpression, Biomarker CTD_human, LHGDN 4353 MPO myeloperoxidase umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 4437 MSH3 mutS homolog 3 umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 10232 MSLN mesothelin umls:C0887833 Carcinoma, Pancreatic Ductal 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 84700 MYO18B myosin XVIIIB umls:C0025500 Mesothelioma 0.212522577064729 1 AlteredExpression, Therapeutic CTD_human, LHGDN 9499 MYOT myotilin umls:C0878544 Cardiomyopathies 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 9 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) umls:C0027651 Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 10499 NCOA2 nuclear receptor coactivator 2 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 9611 NCOR1 nuclear receptor corepressor 1 umls:C1458155 Breast Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 10397 NDRG1 N-myc downstream regulated 1 umls:C0022665 Kidney Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 4803 NGF nerve growth factor (beta polypeptide) umls:C0017658 Glomerulonephritis 0.212522577064729 2 Biomarker CTD_human, LHGDN 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C0021368 Inflammation 0.212522577064729 3 Biomarker CTD_human, LHGDN 4843 NOS2 nitric oxide synthase 2, inducible umls:C0037116 Silicosis 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 4843 NOS2 nitric oxide synthase 2, inducible umls:C0038358 Stomach Ulcer 0.212522577064729 4 Biomarker CTD_human, LHGDN 4879 NPPB natriuretic peptide B umls:C0004238 Atrial Fibrillation 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 4879 NPPB natriuretic peptide B umls:C0270611 Brain Injuries 0.212522577064729 2 Biomarker, Therapeutic CTD_human, LHGDN 4879 NPPB natriuretic peptide B umls:C0007193 Cardiomyopathy, Dilated 0.212522577064729 3 AlteredExpression, Biomarker, Therapeutic CTD_human, LHGDN 4879 NPPB natriuretic peptide B umls:C0018798 Heart Defects, Congenital 0.212522577064729 2 Biomarker CTD_human, LHGDN 4306 NR3C2 nuclear receptor subfamily 3, group C, member 2 umls:C0007193 Cardiomyopathy, Dilated 0.212522577064729 2 Biomarker CTD_human, LHGDN 4929 NR4A2 nuclear receptor subfamily 4, group A, member 2 umls:C0009404 Colorectal Neoplasms 0.212522577064729 1 Biomarker CTD_human, LHGDN 8204 NRIP1 nuclear receptor interacting protein 1 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0017638 Glioma 0.212522577064729 2 Biomarker CTD_human, LHGDN 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0020507 Hyperplasia 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 64805 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 umls:C0024141 Lupus Erythematosus, Systemic 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0024121 Lung Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 83259 PCDH11Y protocadherin 11 Y-linked umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 65217 PCDH15 protocadherin-related 15 umls:C0011053 Deafness 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C0007097 Carcinoma 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 5175 PECAM1 platelet/endothelial cell adhesion molecule 1 umls:C0004352 Autistic Disorder 0.212522577064729 1 Biomarker CTD_human, LHGDN 5177 PEE1 preeclampsia/eclampsia 1 umls:C0032914 Pre-Eclampsia 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 5196 PF4 platelet factor 4 umls:C0040034 Thrombocytopenia 0.212522577064729 8 Biomarker CTD_human, LHGDN 5196 PF4 platelet factor 4 umls:C0040053 Thrombosis 0.212522577064729 5 Biomarker CTD_human, LHGDN 5245 PHB prohibitin umls:C0001418 Adenocarcinoma 0.212522577064729 2 Biomarker CTD_human, LHGDN 5245 PHB prohibitin umls:C0036341 Schizophrenia 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 5245 PHB prohibitin umls:C0038356 Stomach Neoplasms 0.212522577064729 3 Biomarker CTD_human, LHGDN 5328 PLAU plasminogen activator, urokinase umls:C0038356 Stomach Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 5329 PLAUR plasminogen activator, urokinase receptor umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 5360 PLTP phospholipid transfer protein umls:C0020557 Hypertriglyceridemia 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 5420 PODXL podocalyxin-like umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 5447 POR P450 (cytochrome) oxidoreductase umls:C2350233 Antley-Bixler Syndrome Phenotype 0.212522577064729 4 Biomarker, GeneticVariation CTD_human, LHGDN 5460 POU5F1 POU class 5 homeobox 1 umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.212522577064729 2 Biomarker CTD_human, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0018800 Cardiomegaly 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0022661 Kidney Failure, Chronic 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0027651 Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0035126 Reperfusion Injury 0.212522577064729 4 Biomarker, Therapeutic CTD_human, LHGDN 133522 PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 9055 PRC1 protein regulator of cytokinesis 1 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 9588 PRDX6 peroxiredoxin 6 umls:C0013080 Down Syndrome 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 5567 PRKACB protein kinase, cAMP-dependent, catalytic, beta umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker CTD_human, LHGDN 5581 PRKCE protein kinase C, epsilon umls:C0020429 Hyperalgesia 0.212522577064729 4 Biomarker CTD_human, LHGDN 5590 PRKCZ protein kinase C, zeta umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker CTD_human, LHGDN 5618 PRLR prolactin receptor umls:C0007097 Carcinoma 0.212522577064729 3 Biomarker CTD_human, LHGDN 5646 PRSS3 protease, serine, 3 umls:C0005695 Urinary Bladder Neoplasms 0.212522577064729 1 Biomarker, PostTranslationalModification CTD_human, LHGDN 5728 PTEN phosphatase and tensin homolog umls:C0242656 Disease Progression 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0020507 Hyperplasia 0.212522577064729 4 AlteredExpression, Biomarker CTD_human, LHGDN 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0040053 Thrombosis 0.212522577064729 2 Biomarker CTD_human, LHGDN 5806 PTX3 pentraxin 3, long umls:C0017661 Glomerulonephritis, IGA 0.212522577064729 2 Biomarker CTD_human, LHGDN 29108 PYCARD PYD and CARD domain containing umls:C0038356 Stomach Neoplasms 0.212522577064729 2 Biomarker, PostTranslationalModification CTD_human, LHGDN 10266 RAMP2 receptor (G protein-coupled) activity modifying protein 2 umls:C0024121 Lung Neoplasms 0.212522577064729 1 Biomarker, PostTranslationalModification CTD_human, LHGDN 5909 RAP1GAP RAP1 GTPase activating protein umls:C0030297 Pancreatic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 5915 RARB retinoic acid receptor, beta umls:C0018671 Head and Neck Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 5935 RBM3 RNA binding motif (RNP1, RRM) protein 3 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 387 RHOA ras homolog family member A umls:C0017661 Glomerulonephritis, IGA 0.212522577064729 2 Biomarker CTD_human, LHGDN 54894 RNF43 ring finger protein 43 umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 6091 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) umls:C0024121 Lung Neoplasms 0.212522577064729 1 Biomarker, PostTranslationalModification CTD_human, LHGDN 6138 RPL15 ribosomal protein L15 umls:C0038356 Stomach Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 6236 RRAD Ras-related associated with diabetes umls:C0018800 Cardiomegaly 0.212522577064729 1 Biomarker CTD_human, LHGDN 6285 S100B S100 calcium binding protein B umls:C2937358 Cerebral Hemorrhage 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 6401 SELE selectin E umls:C0004238 Atrial Fibrillation 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 6317 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 umls:C0014859 Esophageal Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 5274 SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 umls:C0751778 Myoclonic Epilepsies, Progressive 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 2810 SFN stratifin umls:C0026640 Mouth Neoplasms 0.212522577064729 2 Biomarker, PostTranslationalModification CTD_human, LHGDN 6424 SFRP4 secreted frizzled-related protein 4 umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 6425 SFRP5 secreted frizzled-related protein 5 umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 Biomarker, PostTranslationalModification CTD_human, LHGDN 23411 SIRT1 sirtuin 1 umls:C0019693 HIV Infections 0.212522577064729 2 Biomarker CTD_human, LHGDN 6566 SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1 umls:C0009375 Colonic Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 7782 SLC30A4 solute carrier family 30 (zinc transporter), member 4 umls:C0002395 Alzheimer Disease 0.212522577064729 1 Biomarker CTD_human, LHGDN 160728 SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 umls:C0009375 Colonic Neoplasms 0.212522577064729 3 Biomarker CTD_human, LHGDN 6530 SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2 umls:C1535893 Orthostatic Intolerance 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 64695 SLEB3 systemic lupus erythematosus susceptibility 3 umls:C0024141 Lupus Erythematosus, Systemic 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0027051 Myocardial Infarction 0.212522577064729 2 Biomarker, Therapeutic CTD_human, LHGDN 6647 SOD1 superoxide dismutase 1, soluble umls:C0035126 Reperfusion Injury 0.212522577064729 4 Biomarker, Therapeutic CTD_human, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0007134 Carcinoma, Renal Cell 0.212522577064729 2 Biomarker CTD_human, LHGDN 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0919267 Ovarian Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 64321 SOX17 SRY (sex determining region Y)-box 17 umls:C0009404 Colorectal Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 6659 SOX4 SRY (sex determining region Y)-box 4 umls:C0010606 Carcinoma, Adenoid Cystic 0.212522577064729 2 Biomarker CTD_human, LHGDN 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C0007097 Carcinoma 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0009375 Colonic Neoplasms 0.212522577064729 1 Biomarker, PostTranslationalModification CTD_human, LHGDN 23635 SSBP2 single-stranded DNA binding protein 2 umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 Biomarker CTD_human, LHGDN 6751 SSTR1 somatostatin receptor 1 umls:C0030297 Pancreatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0878544 Cardiomyopathies 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 64220 STRA6 stimulated by retinoic acid 6 umls:C0018798 Heart Defects, Congenital 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 64220 STRA6 stimulated by retinoic acid 6 umls:C0019284 Hernia, Diaphragmatic 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 64220 STRA6 stimulated by retinoic acid 6 umls:C3714756 Intellectual Disability 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 11171 STRAP serine/threonine kinase receptor associated protein umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 50511 SYCP3 synaptonemal complex protein 3 umls:C0000809 Abortion, Habitual 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 6862 T T, brachyury homolog (mouse) umls:C0008487 Chordoma 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 6862 T T, brachyury homolog (mouse) umls:C0027794 Neural Tube Defects 0.212522577064729 1 Biomarker CTD_human, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0919267 Ovarian Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7015 TERT telomerase reverse transcriptase umls:C0007873 Uterine Cervical Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7035 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) umls:C0600433 Activated Protein C Resistance 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7980 TFPI2 tissue factor pathway inhibitor 2 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker, PostTranslationalModification CTD_human, LHGDN 7980 TFPI2 tissue factor pathway inhibitor 2 umls:C0030297 Pancreatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7037 TFRC transferrin receptor umls:C0024121 Lung Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0021368 Inflammation 0.212522577064729 2 Biomarker CTD_human, LHGDN 7083 TK1 thymidine kinase 1, soluble umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 7099 TLR4 toll-like receptor 4 umls:C0024121 Lung Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0015967 Fever 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0014170 Endometrial Neoplasms 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 8742 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 umls:C0270611 Brain Injuries 0.212522577064729 2 Biomarker CTD_human, LHGDN 7139 TNNT2 troponin T type 2 (cardiac) umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 10210 TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase umls:C0029463 Osteosarcoma 0.212522577064729 2 Biomarker CTD_human, LHGDN 7157 TP53 tumor protein p53 umls:C0042065 Urogenital Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 8626 TP63 tumor protein p63 umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 8626 TP63 tumor protein p63 umls:C0206720 Neoplasms, Squamous Cell 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7178 TPT1 tumor protein, translationally-controlled 1 umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7225 TRPC6 transient receptor potential cation channel, subfamily C, member 6 umls:C0020564 Hypertrophy 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7248 TSC1 tuberous sclerosis 1 umls:C0006111 Brain Diseases 0.212522577064729 2 Biomarker CTD_human, LHGDN 7249 TSC2 tuberous sclerosis 2 umls:C0030297 Pancreatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 8848 TSC22D1 TSC22 domain family, member 1 umls:C0007097 Carcinoma 0.212522577064729 2 Biomarker CTD_human, LHGDN 1890 TYMP thymidine phosphorylase umls:C0005695 Urinary Bladder Neoplasms 0.212522577064729 3 AlteredExpression, Biomarker CTD_human, LHGDN 7298 TYMS thymidylate synthetase umls:C0919267 Ovarian Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7298 TYMS thymidylate synthetase umls:C0033578 Prostatic Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 7349 UCN urocortin umls:C0021368 Inflammation 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0270611 Brain Injuries 0.212522577064729 2 Biomarker, Therapeutic CTD_human, LHGDN 7367 UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 umls:C0001418 Adenocarcinoma 0.212522577064729 1 Biomarker, GeneticVariation CTD_human, LHGDN 7372 UMPS uridine monophosphate synthetase umls:C2239176 Carcinoma, Hepatocellular 0.212522577064729 2 Biomarker CTD_human, LHGDN 7374 UNG uracil-DNA glycosylase umls:C0009404 Colorectal Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 8409 UXT ubiquitously-expressed, prefoldin-like chaperone umls:C0033578 Prostatic Neoplasms 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 7450 VWF von Willebrand factor umls:C0004238 Atrial Fibrillation 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 80326 WNT10A wingless-type MMTV integration site family, member 10A umls:C0334634 Lymphoma, Mantle-Cell 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 7472 WNT2 wingless-type MMTV integration site family member 2 umls:C0007873 Uterine Cervical Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 7490 WT1 Wilms tumor 1 umls:C0017658 Glomerulonephritis 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 51741 WWOX WW domain containing oxidoreductase umls:C0038356 Stomach Neoplasms 0.212522577064729 2 Biomarker, GeneticVariation CTD_human, LHGDN 331 XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase umls:C0014859 Esophageal Neoplasms 0.212522577064729 1 AlteredExpression, Biomarker CTD_human, LHGDN 331 XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase umls:C0919267 Ovarian Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 8089 YEATS4 YEATS domain containing 4 umls:C0023827 Liposarcoma 0.212522577064729 2 AlteredExpression, Therapeutic CTD_human, LHGDN 7534 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta umls:C0007097 Carcinoma 0.212522577064729 2 AlteredExpression, Biomarker CTD_human, LHGDN 9839 ZEB2 zinc finger E-box binding homeobox 2 umls:C1458155 Breast Neoplasms 0.212522577064729 2 Biomarker CTD_human, LHGDN 2184 FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) umls:C0268490 Tyrosinemia type I 0.212474201084121 44 Biomarker, GeneticVariation BeFree, CLINVAR 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C0003811 Arrhythmias, Cardiac 0.212407375778265 5 AlteredExpression, Biomarker, GeneticVariation CLINVAR, GAD, LHGDN 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0022661 Kidney Failure, Chronic 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0860207 Drug-Induced Liver Injury 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0024809 Marijuana Abuse 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0235032 Neurotoxicity Syndromes 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0021368 Inflammation 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4363 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 umls:C0009404 Colorectal Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4363 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 umls:C0020538 Hypertension 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0031117 Peripheral Nervous System Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1636 ACE angiotensin I converting enzyme umls:C0001418 Adenocarcinoma 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1636 ACE angiotensin I converting enzyme umls:C0017205 Gaucher Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1636 ACE angiotensin I converting enzyme umls:C0032310 Pneumonia, Viral 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1636 ACE angiotensin I converting enzyme umls:C0035242 Respiratory Tract Diseases 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 100 ADA adenosine deaminase umls:C0020452 Hyperemia 0.212317067519348 3 GeneticVariation, Therapeutic CTD_human, GAD 108 ADCY2 adenylate cyclase 2 (brain) umls:C0004096 Asthma 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 131 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide umls:C0014859 Esophageal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 131 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide umls:C0023055 Laryngeal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0018801 Heart Failure 0.212317067519348 1 GeneticVariation, Therapeutic CTD_human, GAD 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0043096 Weight Loss 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 134 ADORA1 adenosine A1 receptor umls:C0013182 Drug Hypersensitivity 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 135 ADORA2A adenosine A2a receptor umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 135 ADORA2A adenosine A2a receptor umls:C0013182 Drug Hypersensitivity 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 135 ADORA2A adenosine A2a receptor umls:C0033941 Psychoses, Substance-Induced 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 135 ADORA2A adenosine A2a receptor umls:C0021603 Sleep Initiation and Maintenance Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 140 ADORA3 adenosine A3 receptor umls:C0027051 Myocardial Infarction 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 154 ADRB2 adrenoceptor beta 2, surface umls:C0040822 Tremor 0.212317067519348 5 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD 155 ADRB3 adrenoceptor beta 3 umls:C0149721 Hypertrophy, Left Ventricular 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0002949 Aneurysm, Dissecting 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0015934 Fetal Growth Retardation 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0021368 Inflammation 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0030922 Peptic Ulcer Hemorrhage 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0033941 Psychoses, Substance-Induced 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0032927 Precancerous Conditions 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0007621 Cell Transformation, Neoplastic 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 23294 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A umls:C1956346 Coronary Artery Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 308 ANXA5 annexin A5 umls:C0032914 Pre-Eclampsia 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 324 APC adenomatous polyposis coli umls:C0007621 Cell Transformation, Neoplastic 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 345 APOC3 apolipoprotein C-III umls:C0020445 Hyperlipoproteinemia Type II 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 348 APOE apolipoprotein E umls:C0000786 Abortion, Spontaneous 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 348 APOE apolipoprotein E umls:C0019202 Hepatolenticular Degeneration 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 367 AR androgen receptor umls:C0027643 Neoplasm Recurrence, Local 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 383 ARG1 arginase 1 umls:C0032927 Precancerous Conditions 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 405 ARNT aryl hydrocarbon receptor nuclear translocator umls:C0009404 Colorectal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 409 ARRB2 arrestin, beta 2 umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 55729 ATF7IP activating transcription factor 7 interacting protein umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 55729 ATF7IP activating transcription factor 7 interacting protein umls:C0039590 Testicular Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 6790 AURKA aurora kinase A umls:C0022665 Kidney Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6790 AURKA aurora kinase A umls:C0033578 Prostatic Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 590 BCHE butyrylcholinesterase umls:C0522224 Paralysis 0.212317067519348 10 Biomarker, GeneticVariation CTD_human, GAD 596 BCL2 B-cell CLL/lymphoma 2 umls:C0018671 Head and Neck Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 10018 BCL2L11 BCL2-like 11 (apoptosis facilitator) umls:C0008313 Cholangitis, Sclerosing 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 635 BHMT betaine--homocysteine S-methyltransferase umls:C0024305 Lymphoma, Non-Hodgkin 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 637 BID BH3 interacting domain death agonist umls:C0038356 Stomach Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 650 BMP2 bone morphogenetic protein 2 umls:C0018995 Hemochromatosis 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0024694 Mandibular Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 672 BRCA1 breast cancer 1, early onset umls:C0007621 Cell Transformation, Neoplastic 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 675 BRCA2 breast cancer 2, early onset umls:C0017638 Glioma 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 60526 C2orf43 chromosome 2 open reading frame 43 umls:C0033578 Prostatic Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 735 C9 complement component 9 umls:C0242383 Macular Degeneration 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 760 CA2 carbonic anhydrase II umls:C0029456 Osteoporosis 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 8912 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 9607 CARTPT CART prepropeptide umls:C0236736 Cocaine-Related Disorders 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 843 CASP10 caspase 10, apoptosis-related cysteine peptidase umls:C0037286 Skin Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0037286 Skin Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0017612 Glaucoma, Open-Angle 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 858 CAV2 caveolin 2 umls:C0017612 Glaucoma, Open-Angle 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 875 CBS cystathionine-beta-synthase umls:C0011860 Diabetes Mellitus, Type 2 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 875 CBS cystathionine-beta-synthase umls:C0020538 Hypertension 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 54535 CCHCR1 coiled-coil alpha-helical rod protein 1 umls:C0033578 Prostatic Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0007786 Brain Ischemia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0085129 Bronchial Hyperreactivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0014170 Endometrial Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0020517 Hypersensitivity 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0027794 Neural Tube Defects 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 729230 CCR2 chemokine (C-C motif) receptor 2 umls:C0020517 Hypersensitivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1233 CCR4 chemokine (C-C motif) receptor 4 umls:C0007570 Celiac Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 914 CD2 CD2 molecule umls:C0003873 Arthritis, Rheumatoid 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1001 CDH3 cadherin 3, type 1, P-cadherin (placental) umls:C0009324 Colitis, Ulcerative 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1007 CDH9 cadherin 9, type 2 (T1-cadherin) umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1019 CDK4 cyclin-dependent kinase 4 umls:C0024667 Mammary Neoplasms, Animal 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 10878 CFHR3 complement factor H-related 3 umls:C0025303 Meningococcal Infections 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 11200 CHEK2 checkpoint kinase 2 umls:C0038356 Stomach Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1138 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) umls:C0236969 Substance-Related Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0038587 Substance Withdrawal Syndrome 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1154 CISH cytokine inducible SH2-containing protein umls:C0024530 Malaria 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 23562 CLDN14 claudin 14 umls:C0011053 Deafness 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 23274 CLEC16A C-type lectin domain family 16, member A umls:C0162538 IgA Deficiency 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 23274 CLEC16A C-type lectin domain family 16, member A umls:C0023892 Liver Cirrhosis, Biliary 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 23274 CLEC16A C-type lectin domain family 16, member A umls:C0024141 Lupus Erythematosus, Systemic 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 81037 CLPTM1L CLPTM1-like umls:C0007117 Carcinoma, Basal Cell 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 81037 CLPTM1L CLPTM1-like umls:C0005695 Urinary Bladder Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1215 CMA1 chymase 1, mast cell umls:C0149721 Hypertrophy, Left Ventricular 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0236736 Cocaine-Related Disorders 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0038587 Substance Withdrawal Syndrome 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0043094 Weight Gain 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1277 COL1A1 collagen, type I, alpha 1 umls:C0029172 Oral Submucous Fibrosis 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1291 COL6A1 collagen, type VI, alpha 1 umls:C1865343 Ossification of the posterior longitudinal ligament of the spine 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1312 COMT catechol-O-methyltransferase umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1312 COMT catechol-O-methyltransferase umls:C0236736 Cocaine-Related Disorders 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1312 COMT catechol-O-methyltransferase umls:C0015934 Fetal Growth Retardation 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1312 COMT catechol-O-methyltransferase umls:C0024667 Mammary Neoplasms, Animal 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 64506 CPEB1 cytoplasmic polyadenylation element binding protein 1 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1373 CPS1 carbamoyl-phosphate synthase 1, mitochondrial umls:C0220994 Hyperammonemia 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 1435 CSF1 colony stimulating factor 1 (macrophage) umls:C0029401 Osteitis Deformans 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1488 CTBP2 C-terminal binding protein 2 umls:C0033578 Prostatic Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C0002171 Alopecia Areata 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 8453 CUL2 cullin 2 umls:C0021390 Inflammatory Bowel Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C0027626 Neoplasm Invasiveness 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 9547 CXCL14 chemokine (C-X-C motif) ligand 14 umls:C0004096 Asthma 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0004763 Barrett Esophagus 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0015967 Fever 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1535 CYBA cytochrome b-245, alpha polypeptide umls:C0018799 Heart Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0021361 Infertility, Female 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0000786 Abortion, Spontaneous 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0020517 Hypersensitivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0022665 Kidney Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0028797 Occupational Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0027794 Neural Tube Defects 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0001430 Adenoma 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C0030922 Peptic Ulcer Hemorrhage 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0428977 Bradycardia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0014549 Epilepsy, Tonic-Clonic 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0677050 Manganese Poisoning 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0236969 Substance-Related Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1577 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 umls:C0235032 Neurotoxicity Syndromes 0.212317067519348 1 GeneticVariation, Therapeutic CTD_human, GAD 1577 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 umls:C0040053 Thrombosis 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 10800 CYSLTR1 cysteinyl leukotriene receptor 1 umls:C0013182 Drug Hypersensitivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 153090 DAB2IP DAB2 interacting protein umls:C0027051 Myocardial Infarction 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1610 DAO D-amino-acid oxidase umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 81501 DCSTAMP dendrocyte expressed seven transmembrane protein umls:C0029401 Osteitis Deformans 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1641 DCX doublecortin umls:C1955870 Classical Lissencephalies and Subcortical Band Heterotopias 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 163486 DENND1B DENN/MADD domain containing 1B umls:C0010346 Crohn Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 494513 DFNB59 deafness, autosomal recessive 59 umls:C0011053 Deafness 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1717 DHCR7 7-dehydrocholesterol reductase umls:C0004352 Autistic Disorder 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 9940 DLEC1 deleted in lung and esophageal cancer 1 umls:C0014859 Esophageal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 9228 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1761 DMRT1 doublesex and mab-3 related transcription factor 1 umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1761 DMRT1 doublesex and mab-3 related transcription factor 1 umls:C0039590 Testicular Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 8701 DNAH11 dynein, axonemal, heavy chain 11 umls:C0010068 Coronary Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1788 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha umls:C0010346 Crohn Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 1806 DPYD dihydropyrimidine dehydrogenase umls:C0030297 Pancreatic Neoplasms 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 1813 DRD2 dopamine receptor D2 umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 1813 DRD2 dopamine receptor D2 umls:C0030193 Pain 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1814 DRD3 dopamine receptor D3 umls:C0013386 Dyskinesia, Drug-Induced 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1814 DRD3 dopamine receptor D3 umls:C0020429 Hyperalgesia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1832 DSP desmoplakin umls:C0085298 Death, Sudden, Cardiac 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1906 EDN1 endothelin 1 umls:C0003811 Arrhythmias, Cardiac 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1906 EDN1 endothelin 1 umls:C0021368 Inflammation 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1906 EDN1 endothelin 1 umls:C0151526 Premature Birth 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1908 EDN3 endothelin 3 umls:C0020538 Hypertension 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 1956 EGFR epidermal growth factor receptor umls:C0027626 Neoplasm Invasiveness 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 23301 EHBP1 EH domain binding protein 1 umls:C0033578 Prostatic Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 9451 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 umls:C0038868 Supranuclear Palsy, Progressive 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 55740 ENAH enabled homolog (Drosophila) umls:C0017661 Glomerulonephritis, IGA 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2041 EPHA1 EPH receptor A1 umls:C0002395 Alzheimer Disease 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 64167 ERAP2 endoplasmic reticulum aminopeptidase 2 umls:C0010346 Crohn Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0027659 Neoplasms, Experimental 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2066 ERBB4 erb-b2 receptor tyrosine kinase 4 umls:C0037286 Skin Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2068 ERCC2 excision repair cross-complementation group 2 umls:C0079153 Hyperkeratosis, Epidermolytic 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2068 ERCC2 excision repair cross-complementation group 2 umls:C0028797 Occupational Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2068 ERCC2 excision repair cross-complementation group 2 umls:C0038814 Sunburn 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2099 ESR1 estrogen receptor 1 umls:C0242656 Disease Progression 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0021361 Infertility, Female 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0024667 Mammary Neoplasms, Animal 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2113 ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1 umls:C0007570 Celiac Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2165 F13B coagulation factor XIII, B polypeptide umls:C0042487 Venous Thrombosis 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2200 FBN1 fibrillin 1 umls:C0003496 Aortic Rupture 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 54620 FBXL19 F-box and leucine-rich repeat protein 19 umls:C0033860 Psoriasis 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2207 FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide umls:C0013182 Drug Hypersensitivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2212 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) umls:C0040034 Thrombocytopenia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 115352 FCRL3 Fc receptor-like 3 umls:C0920350 Thyroiditis, Autoimmune 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0008924 Cleft Lip 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0008925 Cleft Palate 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2321 FLT1 fms-related tyrosine kinase 1 umls:C0037286 Skin Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2348 FOLR1 folate receptor 1 (adult) umls:C0018798 Heart Defects, Congenital 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 668 FOXL2 forkhead box L2 umls:C0022548 Keloid 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 27086 FOXP1 forkhead box P1 umls:C0042900 Vitiligo 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 116113 FOXP4 forkhead box P4 umls:C0033578 Prostatic Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C0004352 Autistic Disorder 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2555 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 umls:C0004352 Autistic Disorder 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C0014550 Epilepsies, Myoclonic 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2730 GCLM glutamate-cysteine ligase, modifier subunit umls:C0005138 Berylliosis 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 392255 GDF6 growth differentiation factor 6 umls:C0009363 Coloboma 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1 umls:C0028754 Obesity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 54826 GIN1 gypsy retrotransposon integrase 1 umls:C0003873 Arthritis, Rheumatoid 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2778 GNAS GNAS complex locus umls:C0029396 Ossification, Heterotopic 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 59345 GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 umls:C0009404 Colorectal Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2811 GP1BA glycoprotein Ib (platelet), alpha polypeptide umls:C0020538 Hypertension 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2815 GP9 glycoprotein IX (platelet) umls:C0040034 Thrombocytopenia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2879 GPX4 glutathione peroxidase 4 umls:C0009404 Colorectal Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 9446 GSTO1 glutathione S-transferase omega 1 umls:C0037274 Skin Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 119391 GSTO2 glutathione S-transferase omega 2 umls:C0005695 Urinary Bladder Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0022658 Kidney Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0033941 Psychoses, Substance-Induced 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2950 GSTP1 glutathione S-transferase pi 1 umls:C0042594 Vestibular Diseases 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2952 GSTT1 glutathione S-transferase theta 1 umls:C0034734 Raynaud Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 2954 GSTZ1 glutathione S-transferase zeta 1 umls:C0042594 Vestibular Diseases 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 84439 HHIPL1 HHIP-like 1 umls:C1956346 Coronary Artery Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0027626 Neoplasm Invasiveness 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3105 HLA-A major histocompatibility complex, class I, A umls:C0860207 Drug-Induced Liver Injury 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3106 HLA-B major histocompatibility complex, class I, B umls:C0860207 Drug-Induced Liver Injury 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3106 HLA-B major histocompatibility complex, class I, B umls:C0033687 Proteinuria 0.212317067519348 5 Biomarker, GeneticVariation CTD_human, GAD 3107 HLA-C major histocompatibility complex, class I, C umls:C0017638 Glioma 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3108 HLA-DMA major histocompatibility complex, class II, DM alpha umls:C0011616 Dermatitis, Contact 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0011603 Dermatitis 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0085179 Eosinophilia-Myalgia Syndrome 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0860207 Drug-Induced Liver Injury 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0860207 Drug-Induced Liver Injury 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0011875 Diabetic Angiopathies 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 3215 HOXB5 homeobox B5 umls:C0028754 Obesity 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3240 HP haptoglobin umls:C0342257 Diabetes Complications 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3303 HSPA1A heat shock 70kDa protein 1A umls:C0030567 Parkinson Disease 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 3304 HSPA1B heat shock 70kDa protein 1B umls:C0037274 Skin Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3305 HSPA1L heat shock 70kDa protein 1-like umls:C0013182 Drug Hypersensitivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0030193 Pain 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 3351 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3352 HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled umls:C0028768 Obsessive-Compulsive Disorder 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3358 HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled umls:C0038587 Substance Withdrawal Syndrome 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3383 ICAM1 intercellular adhesion molecule 1 umls:C0007786 Brain Ischemia 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 23308 ICOSLG inducible T-cell co-stimulator ligand umls:C0007570 Celiac Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 64135 IFIH1 interferon induced with helicase C domain 1 umls:C0162538 IgA Deficiency 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3442 IFNA5 interferon, alpha 5 umls:C0025202 Melanoma 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 3458 IFNG interferon, gamma umls:C0001175 Acquired Immunodeficiency Syndrome 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3458 IFNG interferon, gamma umls:C0020517 Hypersensitivity 0.212317067519348 3 Biomarker, GeneticVariation, Therapeutic CTD_human, GAD 3458 IFNG interferon, gamma umls:C1565489 Renal Insufficiency 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 3459 IFNGR1 interferon gamma receptor 1 umls:C0079487 Helicobacter Infections 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0000786 Abortion, Spontaneous 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0004352 Autistic Disorder 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0005944 Bone Diseases, Metabolic 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0034013 Puberty, Precocious 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3480 IGF1R insulin-like growth factor 1 receptor umls:C0002395 Alzheimer Disease 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3480 IGF1R insulin-like growth factor 1 receptor umls:C0015934 Fetal Growth Retardation 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3481 IGF2 insulin-like growth factor 2 umls:C0004352 Autistic Disorder 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3483 IGFALS insulin-like growth factor binding protein, acid labile subunit umls:C0034012 Puberty, Delayed 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 3486 IGFBP3 insulin-like growth factor binding protein 3 umls:C0000786 Abortion, Spontaneous 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 64375 IKZF4 IKAROS family zinc finger 4 (Eos) umls:C0002171 Alopecia Areata 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3586 IL10 interleukin 10 umls:C0020523 Hypersensitivity, Immediate 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3593 IL12B interleukin 12B umls:C0017638 Glioma 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 3594 IL12RB1 interleukin 12 receptor, beta 1 umls:C0026919 Mycobacterium Infections, Nontuberculous 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3606 IL18 interleukin 18 umls:C0020517 Hypersensitivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 29949 IL19 interleukin 19 umls:C0011854 Diabetes Mellitus, Type 1 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 29949 IL19 interleukin 19 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3552 IL1A interleukin 1, alpha umls:C0007786 Brain Ischemia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3552 IL1A interleukin 1, alpha umls:C0008495 Chorioamnionitis 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3553 IL1B interleukin 1, beta umls:C0000786 Abortion, Spontaneous 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3553 IL1B interleukin 1, beta umls:C0003165 Anthracosis 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3553 IL1B interleukin 1, beta umls:C0020517 Hypersensitivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3553 IL1B interleukin 1, beta umls:C0027947 Neutropenia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3554 IL1R1 interleukin 1 receptor, type I umls:C0037274 Skin Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7850 IL1R2 interleukin 1 receptor, type II umls:C0009324 Colitis, Ulcerative 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3557 IL1RN interleukin 1 receptor antagonist umls:C0003165 Anthracosis 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3557 IL1RN interleukin 1 receptor antagonist umls:C0009375 Colonic Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3557 IL1RN interleukin 1 receptor antagonist umls:C0037274 Skin Diseases 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 50604 IL20 interleukin 20 umls:C0011854 Diabetes Mellitus, Type 1 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3569 IL6 interleukin 6 umls:C0860207 Drug-Induced Liver Injury 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 3569 IL6 interleukin 6 umls:C0013604 Edema 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3569 IL6 interleukin 6 umls:C0015967 Fever 0.212317067519348 4 Biomarker, GeneticVariation CTD_human, GAD 3394 IRF8 interferon regulatory factor 8 umls:C0003873 Arthritis, Rheumatoid 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3673 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) umls:C0017661 Glomerulonephritis, IGA 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3684 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) umls:C0017661 Glomerulonephritis, IGA 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0019080 Hemorrhage 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0031117 Peripheral Nervous System Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 221895 JAZF1 JAZF zinc finger 1 umls:C0033578 Prostatic Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C0021655 Insulin Resistance 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C0003811 Arrhythmias, Cardiac 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 83795 KCNK16 potassium channel, two pore domain subfamily K, member 16 umls:C0011860 Diabetes Mellitus, Type 2 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3782 KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3 umls:C0004238 Atrial Fibrillation 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 23046 KIF21B kinesin family member 21B umls:C0009324 Colitis, Ulcerative 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3814 KISS1 KiSS-1 metastasis-suppressor umls:C0034012 Puberty, Delayed 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 9365 KL klotho umls:C0037274 Skin Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 8302 KLRC4 killer cell lectin-like receptor subfamily C, member 4 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3875 KRT18 keratin 18, type I umls:C0860207 Drug-Induced Liver Injury 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3852 KRT5 keratin 5, type II umls:C0007117 Carcinoma, Basal Cell 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3953 LEPR leptin receptor umls:C0001925 Albuminuria 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3953 LEPR leptin receptor umls:C0034012 Puberty, Delayed 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3973 LHCGR luteinizing hormone/choriogonadotropin receptor umls:C0021364 Infertility, Male 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3976 LIF leukemia inhibitory factor umls:C0000786 Abortion, Spontaneous 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3977 LIFR leukemia inhibitory factor receptor alpha umls:C0033578 Prostatic Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 23547 LILRA4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 3990 LIPC lipase, hepatic umls:C0020452 Hyperemia 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4046 LSP1 lymphocyte-specific protein 1 umls:C0009324 Colitis, Ulcerative 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4056 LTC4S leukotriene C4 synthase umls:C0013182 Drug Hypersensitivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4057 LTF lactotransferrin umls:C0151526 Premature Birth 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 4067 LYN LYN proto-oncogene, Src family tyrosine kinase umls:C0019693 HIV Infections 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4128 MAOA monoamine oxidase A umls:C0033054 Prenatal Exposure Delayed Effects 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 10747 MASP2 mannan-binding lectin serine peptidase 2 umls:C0155862 Pneumonia, Pneumococcal 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4160 MC4R melanocortin 4 receptor umls:C0021655 Insulin Resistance 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4193 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase umls:C0007621 Cell Transformation, Neoplastic 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2122 MECOM MDS1 and EVI1 complex locus umls:C0027439 Nasopharyngeal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 56955 MEPE matrix extracellular phosphoglycoprotein umls:C0016658 Fractures, Bone 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0037199 Sinusitis 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 79258 MMEL1 membrane metallo-endopeptidase-like 1 umls:C0023892 Liver Cirrhosis, Biliary 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4353 MPO myeloperoxidase umls:C0005695 Urinary Bladder Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 64968 MRPS6 mitochondrial ribosomal protein S6 umls:C1956346 Coronary Artery Disease 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2206 MS4A2 membrane-spanning 4-domains, subfamily A, member 2 umls:C1319853 Asthma, Aspirin-Induced 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2206 MS4A2 membrane-spanning 4-domains, subfamily A, member 2 umls:C0013182 Drug Hypersensitivity 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 2206 MS4A2 membrane-spanning 4-domains, subfamily A, member 2 umls:C0020523 Hypersensitivity, Immediate 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0311375 Arsenic Poisoning 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0014170 Endometrial Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 10588 MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) umls:C0008924 Cleft Lip 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 10588 MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) umls:C0008925 Cleft Palate 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0017178 Gastrointestinal Diseases 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0018939 Hematologic Diseases 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0162429 Malnutrition 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C0009404 Colorectal Neoplasms 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 4588 MUC6 mucin 6, oligomeric mucus/gel-forming umls:C0038356 Stomach Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4600 MX2 MX dynamin-like GTPase 2 umls:C0025202 Melanoma 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4607 MYBPC3 myosin binding protein C, cardiac umls:C0018800 Cardiomegaly 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4607 MYBPC3 myosin binding protein C, cardiac umls:C0085298 Death, Sudden, Cardiac 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4638 MYLK myosin light chain kinase umls:C0242488 Acute Lung Injury 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4638 MYLK myosin light chain kinase umls:C0032285 Pneumonia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4647 MYO7A myosin VIIA umls:C0025202 Melanoma 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 9 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) umls:C0028796 Dermatitis, Occupational 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C0028796 Dermatitis, Occupational 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C0013182 Drug Hypersensitivity 0.212317067519348 4 Biomarker, GeneticVariation CTD_human, GAD 4763 NF1 neurofibromin 1 umls:C0023186 Learning Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0023892 Liver Cirrhosis, Biliary 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C0002792 Anaphylaxis 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C0013182 Drug Hypersensitivity 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C0016470 Food Hypersensitivity 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0003872 Arthritis, Psoriatic 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4843 NOS2 nitric oxide synthase 2, inducible umls:C0014859 Esophageal Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0008924 Cleft Lip 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0042594 Vestibular Diseases 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4878 NPPA natriuretic peptide A umls:C0023890 Liver Cirrhosis 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4878 NPPA natriuretic peptide A umls:C0151744 Myocardial Ischemia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4852 NPY neuropeptide Y umls:C0236736 Cocaine-Related Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4852 NPY neuropeptide Y umls:C0038587 Substance Withdrawal Syndrome 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4886 NPY1R neuropeptide Y receptor Y1 umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4887 NPY2R neuropeptide Y receptor Y2 umls:C0236736 Cocaine-Related Disorders 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4887 NPY2R neuropeptide Y receptor Y2 umls:C0038587 Substance Withdrawal Syndrome 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0860207 Drug-Induced Liver Injury 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 3164 NR4A1 nuclear receptor subfamily 4, group A, member 1 umls:C0021655 Insulin Resistance 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 8013 NR4A3 nuclear receptor subfamily 4, group A, member 3 umls:C0021655 Insulin Resistance 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 2494 NR5A2 nuclear receptor subfamily 5, group A, member 2 umls:C0030297 Pancreatic Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0009404 Colorectal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 8204 NRIP1 nuclear receptor interacting protein 1 umls:C0027051 Myocardial Infarction 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4908 NTF3 neurotrophin 3 umls:C0004352 Autistic Disorder 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4909 NTF4 neurotrophin 4 umls:C0004352 Autistic Disorder 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 23165 NUP205 nucleoporin 205kDa umls:C0029401 Osteitis Deformans 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4986 OPRK1 opioid receptor, kappa 1 umls:C0236736 Cocaine-Related Disorders 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 4986 OPRK1 opioid receptor, kappa 1 umls:C0030193 Pain 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4988 OPRM1 opioid receptor, mu 1 umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4988 OPRM1 opioid receptor, mu 1 umls:C0014544 Epilepsy 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 9381 OTOF otoferlin umls:C0011053 Deafness 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 64805 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 umls:C0019080 Hemorrhage 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5048 PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) umls:C1955870 Classical Lissencephalies and Subcortical Band Heterotopias 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 5069 PAPPA pregnancy-associated plasma protein A, pappalysin 1 umls:C0021361 Infertility, Female 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0001973 Alcoholism 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5173 PDYN prodynorphin umls:C0236736 Cocaine-Related Disorders 0.212317067519348 4 Biomarker, GeneticVariation CTD_human, GAD 5226 PGD phosphogluconate dehydrogenase umls:C2239176 Carcinoma, Hepatocellular 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5241 PGR progesterone receptor umls:C0024667 Mammary Neoplasms, Animal 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0026640 Mouth Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7941 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) umls:C0020523 Hypersensitivity, Immediate 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 51196 PLCE1 phospholipase C, epsilon 1 umls:C0038356 Stomach Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 200150 PLD5 phospholipase D family, member 5 umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 57480 PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 umls:C0040336 Tobacco Use Disorder 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5350 PLN phospholamban umls:C0242698 Ventricular Dysfunction, Left 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5360 PLTP phospholipid transfer protein umls:C0242339 Dyslipidemias 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5360 PLTP phospholipid transfer protein umls:C0021655 Insulin Resistance 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5371 PML promyelocytic leukemia umls:C0029401 Osteitis Deformans 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 5423 POLB polymerase (DNA directed), beta umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 5453 POU3F1 POU class 3 homeobox 1 umls:C0003873 Arthritis, Rheumatoid 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 11281 POU6F2 POU class 6 homeobox 2 umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0020557 Hypertriglyceridemia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 25824 PRDX5 peroxiredoxin 5 umls:C0002171 Alopecia Areata 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 5617 PRL prolactin umls:C0021361 Infertility, Female 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5618 PRLR prolactin receptor umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 128674 PROKR2 prokineticin receptor 2 umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 9861 PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 umls:C0011860 Diabetes Mellitus, Type 2 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 170679 PSORS1C1 psoriasis susceptibility 1 candidate 1 umls:C0004943 Behcet Syndrome 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5727 PTCH1 patched 1 umls:C0008925 Cleft Palate 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5728 PTEN phosphatase and tensin homolog umls:C0000772 Abnormalities, Multiple 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 5728 PTEN phosphatase and tensin homolog umls:C0376634 Craniofacial Abnormalities 0.212317067519348 6 Biomarker, GeneticVariation CTD_human, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0022661 Kidney Failure, Chronic 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0027643 Neoplasm Recurrence, Local 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0037274 Skin Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 5741 PTH parathyroid hormone umls:C0016658 Fractures, Bone 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 5795 PTPRJ protein tyrosine phosphatase, receptor type, J umls:C0009404 Colorectal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 5820 PVT1 Pvt1 oncogene (non-protein coding) umls:C0019829 Hodgkin Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 5890 RAD51B RAD51 paralog B umls:C1458155 Breast Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 85415 RHPN2 rhophilin, Rho GTPase binding protein 2 umls:C0009404 Colorectal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 79890 RIN3 Ras and Rab interactor 3 umls:C0029401 Osteitis Deformans 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 8635 RNASET2 ribonuclease T2 umls:C0018213 Graves Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 84282 RNF135 ring finger protein 135 umls:C0018273 Growth Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 84282 RNF135 ring finger protein 135 umls:C0023186 Learning Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 864 RUNX3 runt-related transcription factor 3 umls:C0007570 Celiac Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 949 SCARB1 scavenger receptor class B, member 1 umls:C0007134 Carcinoma, Renal Cell 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 6401 SELE selectin E umls:C0151744 Myocardial Ischemia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 12 SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 umls:C0033578 Prostatic Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C1861172 Venous Thromboembolism 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6439 SFTPB surfactant protein B umls:C0024121 Lung Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7979 SHFM1 split hand/foot malformation (ectrodactyly) type 1 umls:C0007137 Carcinoma, Squamous Cell 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 8631 SKAP1 src kinase associated phosphoprotein 1 umls:C0919267 Ovarian Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 6582 SLC22A2 solute carrier family 22 (organic cation transporter), member 2 umls:C0022658 Kidney Diseases 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 2030 SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1 umls:C0030297 Pancreatic Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 51151 SLC45A2 solute carrier family 45, member 2 umls:C0007117 Carcinoma, Basal Cell 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0424295 Hyperkinesis 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0033941 Psychoses, Substance-Induced 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0236733 Amphetamine-Related Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0025261 Memory Disorders 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 4088 SMAD3 SMAD family member 3 umls:C0010346 Crohn Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 4088 SMAD3 SMAD family member 3 umls:C0023890 Liver Cirrhosis 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6647 SOD1 superoxide dismutase 1, soluble umls:C1384666 Hearing Loss 0.212317067519348 2 GeneticVariation, Therapeutic CTD_human, GAD 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0034530 Radiation Injuries 0.212317067519348 3 GeneticVariation, Therapeutic CTD_human, GAD 161742 SPRED1 sprouty-related, EVH1 domain containing 1 umls:C0221263 Cafe-au-Lait Spots 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 10253 SPRY2 sprouty homolog 2 (Drosophila) umls:C0008924 Cleft Lip 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 10253 SPRY2 sprouty homolog 2 (Drosophila) umls:C0008925 Cleft Palate 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6711 SPTBN1 spectrin, beta, non-erythrocytic 1 umls:C0016658 Fractures, Bone 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6720 SREBF1 sterol regulatory element binding transcription factor 1 umls:C0022661 Kidney Failure, Chronic 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6480 ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 umls:C0011860 Diabetes Mellitus, Type 2 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0011854 Diabetes Mellitus, Type 1 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 55014 STX17 syntaxin 17 umls:C0002171 Alopecia Areata 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 6854 SYN2 synapsin II umls:C0036572 Seizures 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 6870 TACR3 tachykinin receptor 3 umls:C0236736 Cocaine-Related Disorders 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 9013 TAF1C TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 6943 TCF21 transcription factor 21 umls:C1956346 Coronary Artery Disease 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7015 TERT telomerase reverse transcriptase umls:C0007117 Carcinoma, Basal Cell 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7015 TERT telomerase reverse transcriptase umls:C1956346 Coronary Artery Disease 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7018 TF transferrin umls:C0021368 Inflammation 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7037 TFRC transferrin receptor umls:C0000786 Abortion, Spontaneous 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0000786 Abortion, Spontaneous 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0241910 Hepatitis, Autoimmune 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7040 TGFB1 transforming growth factor, beta 1 umls:C0027626 Neoplasm Invasiveness 0.212317067519348 4 Biomarker, GeneticVariation CTD_human, GAD 7057 THBS1 thrombospondin 1 umls:C0023890 Liver Cirrhosis 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 26277 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 umls:C0005956 Bone Marrow Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 25976 TIPARP TCDD-inducible poly(ADP-ribose) polymerase umls:C0919267 Ovarian Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 55219 TMEM57 transmembrane protein 57 umls:C0010068 Coronary Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0860207 Drug-Induced Liver Injury 0.212317067519348 6 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0013604 Edema 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0015967 Fever 0.212317067519348 4 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0027626 Neoplasm Invasiveness 0.212317067519348 5 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0035126 Reperfusion Injury 0.212317067519348 9 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0035228 Respiratory Hypersensitivity 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C1861172 Venous Thromboembolism 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7124 TNF tumor necrosis factor umls:C0043094 Weight Gain 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 55504 TNFRSF19 tumor necrosis factor receptor superfamily, member 19 umls:C0027439 Nasopharyngeal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0023892 Liver Cirrhosis, Biliary 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0016658 Fractures, Bone 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0032285 Pneumonia 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7139 TNNT2 troponin T type 2 (cardiac) umls:C0042514 Tachycardia, Ventricular 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 11073 TOPBP1 topoisomerase (DNA) II binding protein 1 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7157 TP53 tumor protein p53 umls:C0311375 Arsenic Poisoning 0.212317067519348 3 Biomarker, GeneticVariation CTD_human, GAD 7185 TRAF1 TNF receptor-associated factor 1 umls:C0013274 Ductus Arteriosus, Patent 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 57761 TRIB3 tribbles pseudokinase 3 umls:C0021655 Insulin Resistance 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 8989 TRPA1 transient receptor potential cation channel, subfamily A, member 1 umls:C0004096 Asthma 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 54822 TRPM7 transient receptor potential cation channel, subfamily M, member 7 umls:C0009376 Colonic Polyps 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 54822 TRPM7 transient receptor potential cation channel, subfamily M, member 7 umls:C0009404 Colorectal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0020625 Hyponatremia 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7274 TTPA tocopherol (alpha) transfer protein umls:C0035309 Retinal Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 81027 TUBB1 tubulin, beta 1 class VI umls:C0948089 Acute Coronary Syndrome 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7296 TXNRD1 thioredoxin reductase 1 umls:C0009404 Colorectal Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7298 TYMS thymidylate synthetase umls:C0018671 Head and Neck Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 79465 ULBP3 UL16 binding protein 3 umls:C0002171 Alopecia Areata 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7372 UMPS uridine monophosphate synthetase umls:C0009375 Colonic Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 55829 VIMP VCP-interacting membrane protein umls:C0021368 Inflammation 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 23078 VWA8 von Willebrand factor A domain containing 8 umls:C0004352 Autistic Disorder 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 134430 WDR36 WD repeat domain 36 umls:C0004096 Asthma 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7490 WT1 Wilms tumor 1 umls:C0030297 Pancreatic Neoplasms 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7515 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 umls:C0025500 Mesothelioma 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0007117 Carcinoma, Basal Cell 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0025500 Mesothelioma 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 26137 ZBTB20 zinc finger and BTB domain containing 20 umls:C0038356 Stomach Neoplasms 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 60685 ZFAND3 zinc finger, AN1-type domain 3 umls:C0011860 Diabetes Mellitus, Type 2 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 7546 ZIC2 Zic family member 2 umls:C0027794 Neural Tube Defects 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 57178 ZMIZ1 zinc finger, MIZ-type containing 1 umls:C0007570 Celiac Disease 0.212317067519348 1 Biomarker, GeneticVariation CTD_human, GAD 84627 ZNF469 zinc finger protein 469 umls:C0010034 Corneal Diseases 0.212317067519348 2 Biomarker, GeneticVariation CTD_human, GAD 7157 TP53 tumor protein p53 umls:C0024305 Lymphoma, Non-Hodgkin 0.212308825323709 12 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 1834 DSPP dentin sialophosphoprotein umls:C2973527 Dentinogenesis imperfecta - Shield's type II 0.212268036560749 8 Biomarker, GeneticVariation BeFree, UNIPROT 174 AFP alpha-fetoprotein umls:C0023895 Liver Diseases 0.212268036560749 9 Biomarker BeFree, CTD_human 51129 ANGPTL4 angiopoietin-like 4 umls:C0027627 Neoplasm Metastasis 0.212268036560749 9 Biomarker, Therapeutic BeFree, CTD_human 324 APC adenomatous polyposis coli umls:C0265325 Turcot syndrome 0.212268036560749 9 Biomarker BeFree, CTD_human 474 ATOH1 atonal homolog 1 (Drosophila) umls:C0025149 Medulloblastoma 0.212268036560749 8 Biomarker BeFree, CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0017638 Glioma 0.212268036560749 10 Biomarker BeFree, CTD_human 627 BDNF brain-derived neurotrophic factor umls:C2267227 Bulimia Nervosa 0.212268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human 10344 CCL26 chemokine (C-C motif) ligand 26 umls:C0341106 Eosinophilic Esophagitis 0.212268036560749 8 Biomarker BeFree, CTD_human 64072 CDH23 cadherin-related 23 umls:C2931208 Usher syndrome, type 1D 0.212268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human 1524 CX3CR1 chemokine (C-X3-C motif) receptor 1 umls:C0010068 Coronary Disease 0.212268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human 27184 DISC2 disrupted in schizophrenia 2 (non-protein coding) umls:C0036341 Schizophrenia 0.212268036560749 8 Biomarker BeFree, CTD_human 27436 EML4 echinoderm microtubule associated protein like 4 umls:C0152013 Adenocarcinoma of lung 0.212268036560749 9 Biomarker BeFree, CTD_human 2670 GFAP glial fibrillary acidic protein umls:C0002736 Amyotrophic Lateral Sclerosis 0.212268036560749 9 Biomarker, GeneticVariation BeFree, CTD_human 6011 GRK1 G protein-coupled receptor kinase 1 umls:C1306122 Oguchi disease 0.212268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0162557 Liver Failure, Acute 0.212268036560749 9 Biomarker, Therapeutic BeFree, CTD_human 3290 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 umls:C1291245 Cortisone reductase deficiency 0.212268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human 64423 INF2 inverted formin, FH2 and WH2 domain containing umls:C0017668 Glomerulosclerosis, Focal Segmental 0.212268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human 3630 INS insulin umls:C0018801 Heart Failure 0.212268036560749 9 Biomarker, GeneticVariation BeFree, CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0587248 Costello Syndrome 0.212268036560749 9 Biomarker, GeneticVariation BeFree, CTD_human 3952 LEP leptin umls:C0020505 Hyperphagia 0.212268036560749 9 Biomarker BeFree, CTD_human 4167 MCDR1 macular dystrophy, retinal, 1 (North Carolina type) umls:C0730294 Macular dystrophy, retinal, 1, North Carolina type 0.212268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human 4194 MDM4 MDM4, p53 regulator umls:C0017636 Glioblastoma 0.212268036560749 9 Biomarker BeFree, CTD_human 406991 MIR21 microRNA 21 umls:C0014859 Esophageal Neoplasms 0.212268036560749 8 Biomarker BeFree, CTD_human 4353 MPO myeloperoxidase umls:C0009319 Colitis 0.212268036560749 9 Biomarker BeFree, CTD_human 5077 PAX3 paired box 3 umls:C1261473 Sarcoma 0.212268036560749 8 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0036572 Seizures 0.212268036560749 14 Biomarker, Therapeutic BeFree, CTD_human 23532 PRAME preferentially expressed antigen in melanoma umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.212268036560749 8 Biomarker BeFree, CTD_human 5727 PTCH1 patched 1 umls:C0035412 Rhabdomyosarcoma 0.212268036560749 9 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0014173 Endometrial Hyperplasia 0.212268036560749 9 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C2931822 Nasopharyngeal carcinoma 0.212268036560749 9 Biomarker, GeneticVariation BeFree, CTD_human 5817 PVR poliovirus receptor umls:C0032371 Poliomyelitis 0.212268036560749 9 Biomarker BeFree, CTD_human 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C0003857 Arteriovenous Malformations 0.212268036560749 9 Biomarker BeFree, CTD_human 5925 RB1 retinoblastoma 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.212268036560749 9 AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification BeFree, CTD_human 861 RUNX1 runt-related transcription factor 1 umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.212268036560749 10 Biomarker BeFree, CTD_human 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C0039231 Tachycardia 0.212268036560749 9 Biomarker, GeneticVariation BeFree, CTD_human 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C0014544 Epilepsy 0.212268036560749 9 Biomarker, GeneticVariation BeFree, CTD_human 5268 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 umls:C0027627 Neoplasm Metastasis 0.212268036560749 9 Biomarker BeFree, CTD_human 7979 SHFM1 split hand/foot malformation (ectrodactyly) type 1 umls:C2931019 Split hand foot deformity 1 0.212268036560749 8 Biomarker BeFree, CTD_human 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C0031900 Pierre Robin Syndrome 0.212268036560749 8 Biomarker BeFree, CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0023467 Leukemia, Myeloid, Acute 0.212268036560749 9 Biomarker, Therapeutic BeFree, CTD_human 8626 TP63 tumor protein p63 umls:C0152013 Adenocarcinoma of lung 0.212268036560749 8 Biomarker, GeneticVariation BeFree, CTD_human 7248 TSC1 tuberous sclerosis 1 umls:C0014544 Epilepsy 0.212268036560749 10 Biomarker BeFree, CTD_human 7249 TSC2 tuberous sclerosis 2 umls:C0022665 Kidney Neoplasms 0.212268036560749 11 Biomarker BeFree, CTD_human 54361 WNT4 wingless-type MMTV integration site family, member 4 umls:C1698581 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME 0.212268036560749 8 Biomarker BeFree, CTD_human 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1838539 Atrial Standstill 0.211984531990656 7 Biomarker, GeneticVariation BeFree, UNIPROT 25 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase umls:C0596263 Carcinogenesis 0.211984531990656 7 Biomarker BeFree, CTD_human 60 ACTB actin, beta umls:C2239176 Carcinoma, Hepatocellular 0.211984531990656 9 Biomarker BeFree, CTD_human 9049 AIP aryl hydrocarbon receptor interacting protein umls:C0033375 Prolactinoma 0.211984531990656 7 Biomarker BeFree, CTD_human 57016 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) umls:C2239176 Carcinoma, Hepatocellular 0.211984531990656 8 Biomarker BeFree, CTD_human 60529 ALX4 ALX homeobox 4 umls:C1868598 Parietal Foramina 0.211984531990656 7 Biomarker, GeneticVariation BeFree, CTD_human 344 APOC2 apolipoprotein C-II umls:C0023817 Hyperlipoproteinemia Type I 0.211984531990656 7 Biomarker, GeneticVariation BeFree, CTD_human 367 AR androgen receptor umls:C2931395 Bulbospinal neuronopathy, X-linked recessive 0.211984531990656 7 Biomarker BeFree, CTD_human 282553 AUTS8 Autism, susceptibility to, 8 umls:C0004352 Autistic Disorder 0.211984531990656 7 Biomarker BeFree, CTD_human 551 AVP arginine vasopressin umls:C0149925 Small Cell Lung Carcinoma 0.211984531990656 8 Biomarker BeFree, CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C1168401 Carcinoma, squamous cell of head and neck 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0017658 Glomerulonephritis 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0007138 Carcinoma, Transitional Cell 0.211984531990656 9 Biomarker BeFree, CTD_human 1050 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha umls:C2239176 Carcinoma, Hepatocellular 0.211984531990656 9 Biomarker BeFree, CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0003469 Anxiety Disorders 0.211984531990656 9 Biomarker, GeneticVariation BeFree, CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0018801 Heart Failure 0.211984531990656 8 Biomarker BeFree, CTD_human 1427 CRYGS crystallin, gamma S umls:C0086543 Cataract 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0023903 Liver Neoplasms 0.211984531990656 7 Biomarker, Therapeutic BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0002874 Anemia, Aplastic 0.211984531990656 13 Biomarker, Therapeutic BeFree, CTD_human 1495 CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa umls:C0023467 Leukemia, Myeloid, Acute 0.211984531990656 7 Biomarker BeFree, CTD_human 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C0022116 Ischemia 0.211984531990656 8 Biomarker BeFree, CTD_human 1583 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 umls:C0001623 Adrenal Insufficiency 0.211984531990656 7 Biomarker, GeneticVariation BeFree, CTD_human 1585 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 umls:C0020595 Hypoaldosteronism 0.211984531990656 8 Biomarker BeFree, CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211984531990656 8 Biomarker BeFree, CTD_human 10049 DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 umls:C0686353 Muscular Dystrophies, Limb-Girdle 0.211984531990656 7 Biomarker, GeneticVariation BeFree, CTD_human 50818 DYT10 dystonia 10 umls:C1868682 Familial paroxysmal dystonia 0.211984531990656 7 Biomarker BeFree, CTD_human 1906 EDN1 endothelin 1 umls:C0007222 Cardiovascular Diseases 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 1908 EDN3 endothelin 3 umls:C1848519 Waardenburg syndrome, type 4 0.211984531990656 8 Biomarker BeFree, CTD_human 1956 EGFR epidermal growth factor receptor umls:C0030354 Papilloma 0.211984531990656 8 Biomarker BeFree, CTD_human 2056 EPO erythropoietin umls:C0027051 Myocardial Infarction 0.211984531990656 8 Biomarker BeFree, CTD_human 2120 ETV6 ets variant 6 umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.211984531990656 9 Biomarker BeFree, CTD_human 2218 FKTN fukutin umls:C0265221 Walker-Warburg Syndrome 0.211984531990656 7 Biomarker BeFree, CTD_human 2290 FOXG1 forkhead box G1 umls:C0025958 Microcephaly 0.211984531990656 7 Biomarker BeFree, CTD_human 2305 FOXM1 forkhead box M1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211984531990656 9 Biomarker BeFree, CTD_human 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0023903 Liver Neoplasms 0.211984531990656 8 Biomarker BeFree, CTD_human 2778 GNAS GNAS complex locus umls:C0001206 Acromegaly 0.211984531990656 7 Biomarker, GeneticVariation BeFree, CTD_human 2973 GTS Gilles de la Tourette syndrome umls:C0040517 Tourette Syndrome 0.211984531990656 7 Biomarker BeFree, CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.211984531990656 7 Biomarker BeFree, CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0023903 Liver Neoplasms 0.211984531990656 8 Biomarker, Therapeutic BeFree, CTD_human 3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 umls:C0001627 Adrenal Hyperplasia, Congenital 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 30829 IBD3 inflammatory bowel disease 3 umls:C0021390 Inflammatory Bowel Diseases 0.211984531990656 7 Biomarker BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0032463 Polycythemia Vera 0.211984531990656 8 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0023290 Leishmaniasis, Visceral 0.211984531990656 9 Biomarker, Therapeutic BeFree, CTD_human 11141 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 umls:C0004352 Autistic Disorder 0.211984531990656 7 Biomarker, GeneticVariation BeFree, CTD_human 3799 KIF5B kinesin family member 5B umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211984531990656 7 Biomarker BeFree, CTD_human 79944 L2HGDH L-2-hydroxyglutarate dehydrogenase umls:C2746066 2-Hydroxyglutaricaciduria 0.211984531990656 10 Biomarker, GeneticVariation BeFree, CTD_human 51176 LEF1 lymphoid enhancer-binding factor 1 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.211984531990656 8 Biomarker BeFree, CTD_human 3973 LHCGR luteinizing hormone/choriogonadotropin receptor umls:C0860158 Leydig Cell Hypoplasia 0.211984531990656 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 4149 MAX MYC associated factor X umls:C0031511 Pheochromocytoma 0.211984531990656 7 Biomarker BeFree, CTD_human 406892 MIR100 microRNA 100 umls:C0027627 Neoplasm Metastasis 0.211984531990656 8 Biomarker BeFree, CTD_human 4583 MUC2 mucin 2, oligomeric mucus/gel-forming umls:C0001430 Adenoma 0.211984531990656 8 Biomarker BeFree, CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0023903 Liver Neoplasms 0.211984531990656 8 Biomarker BeFree, CTD_human 64802 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 umls:C0339527 Leber Congenital Amaurosis 0.211984531990656 7 Biomarker, GeneticVariation BeFree, CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0026764 Multiple Myeloma 0.211984531990656 7 Biomarker BeFree, CTD_human 5077 PAX3 paired box 3 umls:C0080178 Spinal Dysraphism 0.211984531990656 10 Biomarker, GeneticVariation BeFree, CTD_human 5173 PDYN prodynorphin umls:C0001973 Alcoholism 0.211984531990656 9 Biomarker, GeneticVariation BeFree, CTD_human 8504 PEX3 peroxisomal biogenesis factor 3 umls:C0043459 Zellweger Syndrome 0.211984531990656 7 Biomarker, GeneticVariation BeFree, CTD_human 55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) umls:C0265221 Walker-Warburg Syndrome 0.211984531990656 7 Biomarker BeFree, CTD_human 23532 PRAME preferentially expressed antigen in melanoma umls:C0025202 Melanoma 0.211984531990656 7 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0017168 Gastroesophageal Reflux 0.211984531990656 7 Biomarker BeFree, CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0026764 Multiple Myeloma 0.211984531990656 7 Biomarker BeFree, CTD_human 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C1275081 Cardiofaciocutaneous syndrome 0.211984531990656 8 Biomarker BeFree, CTD_human 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211984531990656 8 Biomarker BeFree, CTD_human 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0025149 Medulloblastoma 0.211984531990656 7 Biomarker BeFree, CTD_human 145226 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) umls:C0035304 Retinal Degeneration 0.211984531990656 7 Biomarker BeFree, CTD_human 145226 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) umls:C0854723 Retinal Dystrophies 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 8434 RECK reversion-inducing-cysteine-rich protein with kazal motifs umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211984531990656 7 Biomarker BeFree, CTD_human 5972 REN renin umls:C0020540 Hypertension, Malignant 0.211984531990656 8 Biomarker BeFree, CTD_human 6303 SAT1 spermidine/spermine N1-acetyltransferase 1 umls:C0028754 Obesity 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0042384 Vasculitis 0.211984531990656 8 Biomarker BeFree, CTD_human 6444 SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) umls:C0878544 Cardiomyopathies 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 6657 SOX2 SRY (sex determining region Y)-box 2 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.211984531990656 7 Biomarker BeFree, CTD_human 55812 SPATA7 spermatogenesis associated 7 umls:C0339527 Leber Congenital Amaurosis 0.211984531990656 7 Biomarker BeFree, CTD_human 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C0003873 Arthritis, Rheumatoid 0.211984531990656 8 Biomarker BeFree, CTD_human 6778 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced umls:C1266119 Solitary Fibrous Tumors 0.211984531990656 7 Biomarker BeFree, CTD_human 6929 TCF3 transcription factor 3 umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0027765 Nervous System Diseases 0.211984531990656 8 Biomarker, Therapeutic BeFree, CTD_human 7227 TRPS1 trichorhinophalangeal syndrome I umls:C0023003 Langer-Giedion Syndrome 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 7249 TSC2 tuberous sclerosis 2 umls:C0036572 Seizures 0.211984531990656 8 Biomarker, GeneticVariation BeFree, CTD_human 7434 VIPR2 vasoactive intestinal peptide receptor 2 umls:C0036341 Schizophrenia 0.211984531990656 7 Biomarker BeFree, CTD_human 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C1141890 Congenital long QT syndrome 0.211907191943934 42 Biomarker, GeneticVariation BeFree, CLINVAR 7401 CLRN1 clarin 1 umls:C0271097 Usher Syndromes 0.211898294770305 18 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 54657 UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 umls:C0010324 Crigler-Najjar Syndrome 0.211701027420562 6 Biomarker, GeneticVariation BeFree, UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0302592 Cervix carcinoma 0.211701027420562 6 Biomarker, GeneticVariation BeFree, UNIPROT 103 ADAR adenosine deaminase, RNA-specific umls:C0796126 Aicardi-Goutieres syndrome 0.211701027420562 6 Biomarker BeFree, CTD_human 242 ALOX12B arachidonate 12-lipoxygenase, 12R type umls:C0079154 Ichthyosis, Lamellar 0.211701027420562 7 Biomarker BeFree, CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0023903 Liver Neoplasms 0.211701027420562 7 Biomarker BeFree, CTD_human 8314 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) umls:C0025500 Mesothelioma 0.211701027420562 7 Biomarker BeFree, CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0027765 Nervous System Diseases 0.211701027420562 7 Biomarker, Therapeutic BeFree, CTD_human 648 BMI1 BMI1 proto-oncogene, polycomb ring finger umls:C0017636 Glioblastoma 0.211701027420562 7 Biomarker BeFree, CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0026764 Multiple Myeloma 0.211701027420562 6 Biomarker BeFree, CTD_human 595 CCND1 cyclin D1 umls:C0009375 Colonic Neoplasms 0.211701027420562 10 Biomarker BeFree, CTD_human 929 CD14 CD14 molecule umls:C0013595 Eczema 0.211701027420562 6 Biomarker BeFree, CTD_human 1012 CDH13 cadherin 13 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211701027420562 6 Biomarker BeFree, CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0023903 Liver Neoplasms 0.211701027420562 7 Biomarker BeFree, CTD_human 4512 COX1 cytochrome c oxidase subunit I umls:C0007097 Carcinoma 0.211701027420562 7 Biomarker BeFree, CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0031099 Periodontitis 0.211701027420562 7 Biomarker BeFree, CTD_human 1406 CRX cone-rod homeobox umls:C0035304 Retinal Degeneration 0.211701027420562 7 Biomarker BeFree, CTD_human 1435 CSF1 colony stimulating factor 1 (macrophage) umls:C1458155 Breast Neoplasms 0.211701027420562 7 Biomarker BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C1261473 Sarcoma 0.211701027420562 7 Biomarker, Therapeutic BeFree, CTD_human 1490 CTGF connective tissue growth factor umls:C0018801 Heart Failure 0.211701027420562 7 Biomarker BeFree, CTD_human 100528024 DEL11P13 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome umls:C0206115 WAGR Syndrome 0.211701027420562 6 Biomarker BeFree, CTD_human 81704 DOCK8 dedicator of cytokinesis 8 umls:C0022398 Job Syndrome 0.211701027420562 6 Biomarker BeFree, CTD_human 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0034067 Pulmonary Emphysema 0.211701027420562 6 Biomarker BeFree, CTD_human 2056 EPO erythropoietin umls:C0020538 Hypertension 0.211701027420562 8 Biomarker BeFree, CTD_human 2056 EPO erythropoietin umls:C0022658 Kidney Diseases 0.211701027420562 6 Biomarker, Therapeutic BeFree, CTD_human 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C0024301 Lymphoma, Follicular 0.211701027420562 7 Biomarker BeFree, CTD_human 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.211701027420562 7 Biomarker, GeneticVariation BeFree, CTD_human 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C0026986 Myelodysplastic Syndromes 0.211701027420562 6 Biomarker BeFree, CTD_human 2194 FASN fatty acid synthase umls:C0025202 Melanoma 0.211701027420562 9 Biomarker BeFree, CTD_human 9896 FIG4 FIG4 phosphoinositide 5-phosphatase umls:C0007959 Charcot-Marie-Tooth Disease 0.211701027420562 6 Biomarker BeFree, CTD_human 2641 GCG glucagon umls:C0020459 Hyperinsulinism 0.211701027420562 7 Biomarker BeFree, CTD_human 9518 GDF15 growth differentiation factor 15 umls:C0027627 Neoplasm Metastasis 0.211701027420562 6 Biomarker BeFree, CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0017638 Glioma 0.211701027420562 6 Biomarker BeFree, CTD_human 2722 GLC1B glaucoma 1, open angle, B (adult-onset) umls:C0339573 Glaucoma, Primary Open Angle 0.211701027420562 6 Biomarker BeFree, CTD_human 2778 GNAS GNAS complex locus umls:C0014130 Endocrine System Diseases 0.211701027420562 8 Biomarker BeFree, CTD_human 2778 GNAS GNAS complex locus umls:C2932715 Pseudohypoparathyroidism Type 1B 0.211701027420562 6 Biomarker BeFree, CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0007134 Carcinoma, Renal Cell 0.211701027420562 7 Biomarker BeFree, CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0151744 Myocardial Ischemia 0.211701027420562 7 Biomarker, Therapeutic BeFree, CTD_human 6927 HNF1A HNF1 homeobox A umls:C0020615 Hypoglycemia 0.211701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human 6928 HNF1B HNF1 homeobox B umls:C0007134 Carcinoma, Renal Cell 0.211701027420562 6 Biomarker BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0040028 Thrombocythemia, Essential 0.211701027420562 7 Biomarker, Therapeutic BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0017636 Glioblastoma 0.211701027420562 6 Biomarker, Therapeutic BeFree, CTD_human 90865 IL33 interleukin 33 umls:C0011615 Dermatitis, Atopic 0.211701027420562 7 Biomarker BeFree, CTD_human 3630 INS insulin umls:C0005586 Bipolar Disorder 0.211701027420562 7 Biomarker BeFree, CTD_human 3684 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) umls:C0023487 Leukemia, Promyelocytic, Acute 0.211701027420562 6 AlteredExpression, Biomarker, PostTranslationalModification BeFree, CTD_human 3691 ITGB4 integrin, beta 4 umls:C0266159 Pyloric Atresia 0.211701027420562 8 Biomarker BeFree, CTD_human 3827 KNG1 kininogen 1 umls:C0010200 Cough 0.211701027420562 7 Biomarker, GeneticVariation BeFree, CTD_human 3860 KRT13 keratin 13, type I umls:C1721005 Leukokeratosis, Hereditary Mucosal 0.211701027420562 6 Biomarker BeFree, CTD_human 3861 KRT14 keratin 14, type I umls:C0007137 Carcinoma, Squamous Cell 0.211701027420562 7 Biomarker BeFree, CTD_human 9227 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) umls:C0339527 Leber Congenital Amaurosis 0.211701027420562 6 Biomarker BeFree, CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0026827 Muscle Hypotonia 0.211701027420562 7 Biomarker BeFree, CTD_human 406947 MIR155 microRNA 155 umls:C0027627 Neoplasm Metastasis 0.211701027420562 7 Biomarker BeFree, CTD_human 4601 MXI1 MAX interactor 1, dimerization protein umls:C0033578 Prostatic Neoplasms 0.211701027420562 6 Biomarker BeFree, CTD_human 4654 MYOD1 myogenic differentiation 1 umls:C0206656 Rhabdomyosarcoma, Embryonal 0.211701027420562 6 AlteredExpression, Biomarker BeFree, CTD_human 7080 NKX2-1 NK2 homeobox 1 umls:C0024115 Lung Diseases 0.211701027420562 7 Biomarker, GeneticVariation BeFree, CTD_human 4851 NOTCH1 notch 1 umls:C0000768 Congenital Abnormalities 0.211701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human 4852 NPY neuropeptide Y umls:C0003123 Anorexia 0.211701027420562 8 Biomarker BeFree, CTD_human 4306 NR3C2 nuclear receptor subfamily 3, group C, member 2 umls:C0027051 Myocardial Infarction 0.211701027420562 8 Biomarker, GeneticVariation BeFree, CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0027819 Neuroblastoma 0.211701027420562 7 Biomarker BeFree, CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0028326 Noonan Syndrome 0.211701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human 8481 OFD1 oral-facial-digital syndrome 1 umls:C2931426 Orofaciodigital syndrome type1 0.211701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0033578 Prostatic Neoplasms 0.211701027420562 7 Biomarker BeFree, CTD_human 5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma umls:C0025149 Medulloblastoma 0.211701027420562 6 Biomarker BeFree, CTD_human 5315 PKM pyruvate kinase, muscle umls:C2239176 Carcinoma, Hepatocellular 0.211701027420562 7 Biomarker BeFree, CTD_human 5324 PLAG1 pleiomorphic adenoma gene 1 umls:C1519176 Salivary Gland Adenoma, Pleomorphic 0.211701027420562 6 Biomarker BeFree, CTD_human 5325 PLAGL1 pleiomorphic adenoma gene-like 1 umls:C1832386 Diabetes Mellitus, Transient Neonatal, 1 0.211701027420562 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0029408 Osteoarthritis 0.211701027420562 6 Biomarker BeFree, CTD_human 9581 PREPL prolyl endopeptidase-like umls:C1848030 Hypotonia-Cystinuria Syndrome 0.211701027420562 6 Biomarker BeFree, CTD_human 5617 PRL prolactin umls:C3665358 Galactorrhea 0.211701027420562 7 Biomarker BeFree, CTD_human 5741 PTH parathyroid hormone umls:C0035579 Rickets 0.211701027420562 7 Biomarker BeFree, CTD_human 5947 RBP1 retinol binding protein 1, cellular umls:C0007097 Carcinoma 0.211701027420562 7 Biomarker BeFree, CTD_human 6010 RHO rhodopsin umls:C0339535 Night blindness, congenital stationary 0.211701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human 864 RUNX3 runt-related transcription factor 3 umls:C0001418 Adenocarcinoma 0.211701027420562 7 Biomarker BeFree, CTD_human 23314 SATB2 SATB homeobox 2 umls:C0008925 Cleft Palate 0.211701027420562 8 Biomarker BeFree, CTD_human 23451 SF3B1 splicing factor 3b, subunit 1, 155kDa umls:C0220633 Uveal melanoma 0.211701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human 113278 SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.211701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C0017638 Glioma 0.211701027420562 7 Biomarker, Therapeutic BeFree, CTD_human 84464 SLX4 SLX4 structure-specific endonuclease subunit umls:C0015625 Fanconi Anemia 0.211701027420562 7 Biomarker BeFree, CTD_human 6750 SST somatostatin umls:C0027651 Neoplasms 0.211701027420562 7 Biomarker, Therapeutic BeFree, CTD_human 8148 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa umls:C1275278 Chondrosarcoma, Extraskeletal Myxoid 0.211701027420562 6 Biomarker, GeneticVariation BeFree, CTD_human 7039 TGFA transforming growth factor, alpha umls:C0033860 Psoriasis 0.211701027420562 7 Biomarker BeFree, CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0032285 Pneumonia 0.211701027420562 7 Biomarker, GeneticVariation BeFree, CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0017601 Glaucoma 0.211701027420562 7 Biomarker, GeneticVariation BeFree, CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0002878 Anemia, Hemolytic 0.211701027420562 7 Biomarker BeFree, CTD_human 7307 U2AF1 U2 small nuclear RNA auxiliary factor 1 umls:C0026986 Myelodysplastic Syndromes 0.211701027420562 6 Biomarker BeFree, CTD_human 7374 UNG uracil-DNA glycosylase umls:C0272236 Hyper-IgM Immunodeficiency Syndrome 0.211701027420562 6 Biomarker BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0018923 Hemangiosarcoma 0.211701027420562 7 Biomarker BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0024115 Lung Diseases 0.211701027420562 7 Biomarker BeFree, CTD_human 7528 YY1 YY1 transcription factor umls:C0027651 Neoplasms 0.211701027420562 7 Biomarker BeFree, CTD_human 9189 ZBED1 zinc finger, BED-type containing 1 umls:C0033578 Prostatic Neoplasms 0.211701027420562 7 Biomarker BeFree, CTD_human 10269 ZMPSTE24 zinc metallopeptidase STE24 umls:C0023787 Lipodystrophy 0.211701027420562 7 Biomarker BeFree, CTD_human 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C0392784 Dermatofibrosarcoma Protuberans 0.21162368737384 41 Biomarker, GeneticVariation BeFree, CLINVAR 7439 BEST1 bestrophin 1 umls:C1842914 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET 0.211417522850468 5 Biomarker, GeneticVariation BeFree, UNIPROT 4978 OPCML opioid binding protein/cell adhesion molecule-like umls:C1140680 Malignant neoplasm of ovary 0.211417522850468 5 Biomarker, GeneticVariation BeFree, UNIPROT 4595 MUTYH mutY homolog umls:C0699791 STOMACH CARCINOMA 0.211417522850468 5 Biomarker, GeneticVariation BeFree, UNIPROT 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 81794 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 umls:C0265313 Weill-Marchesani Syndrome 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 158 ADSL adenylosuccinate lyase umls:C0004352 Autistic Disorder 0.211417522850468 5 Biomarker BeFree, CTD_human 196 AHR aryl hydrocarbon receptor umls:C0152013 Adenocarcinoma of lung 0.211417522850468 6 Biomarker BeFree, CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0028754 Obesity 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 213 ALB albumin umls:C0239981 Hypoalbuminemia 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 241 ALOX5AP arachidonate 5-lipoxygenase-activating protein umls:C0007785 Cerebral Infarction 0.211417522850468 5 Biomarker BeFree, CTD_human 59344 ALOXE3 arachidonate lipoxygenase 3 umls:C0079154 Ichthyosis, Lamellar 0.211417522850468 6 Biomarker BeFree, CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0524851 Neurodegenerative Diseases 0.211417522850468 6 Biomarker BeFree, CTD_human 374 AREG amphiregulin umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211417522850468 6 Biomarker BeFree, CTD_human 405 ARNT aryl hydrocarbon receptor nuclear translocator umls:C0025202 Melanoma 0.211417522850468 5 Biomarker BeFree, CTD_human 5205 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 umls:C0008372 Cholestasis, Intrahepatic 0.211417522850468 6 Biomarker BeFree, CTD_human 6790 AURKA aurora kinase A umls:C0027819 Neuroblastoma 0.211417522850468 6 Biomarker BeFree, CTD_human 551 AVP arginine vasopressin umls:C0004352 Autistic Disorder 0.211417522850468 6 Biomarker BeFree, CTD_human 8314 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) umls:C0007134 Carcinoma, Renal Cell 0.211417522850468 7 Biomarker BeFree, CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0004096 Asthma 0.211417522850468 6 Biomarker BeFree, CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0035304 Retinal Degeneration 0.211417522850468 5 Biomarker, Therapeutic BeFree, CTD_human 773 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit umls:C0014553 Epilepsy, Absence 0.211417522850468 5 Biomarker BeFree, CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0020437 Hypercalcemia 0.211417522850468 7 Biomarker, Therapeutic BeFree, CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C1134719 Carcinoma, Ductal, Breast 0.211417522850468 7 Biomarker BeFree, CTD_human 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.211417522850468 6 Biomarker, Therapeutic BeFree, CTD_human 1050 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha umls:C0023487 Leukemia, Promyelocytic, Acute 0.211417522850468 6 AlteredExpression, Biomarker, Therapeutic BeFree, CTD_human 1181 CLCN2 chloride channel, voltage-sensitive 2 umls:C0270850 Epilepsy, Idiopathic Generalized 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C1840452 Hyaloideoretinal degeneration of Wagner 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0024530 Malaria 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0002871 Anemia 0.211417522850468 7 Biomarker BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0002874 Anemia, Aplastic 0.211417522850468 7 Biomarker, Therapeutic BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0032285 Pneumonia 0.211417522850468 6 Biomarker BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0002871 Anemia 0.211417522850468 8 Biomarker BeFree, CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0010276 Craniopharyngioma 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0021400 Influenza, Human 0.211417522850468 6 Biomarker BeFree, CTD_human 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 9420 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 umls:C0037773 Spastic Paraplegia, Hereditary 0.211417522850468 6 Biomarker BeFree, CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0001418 Adenocarcinoma 0.211417522850468 6 Biomarker BeFree, CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0007138 Carcinoma, Transitional Cell 0.211417522850468 5 Biomarker BeFree, CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0026986 Myelodysplastic Syndromes 0.211417522850468 6 Biomarker BeFree, CTD_human 84925 DIRC2 disrupted in renal carcinoma 2 umls:C0007134 Carcinoma, Renal Cell 0.211417522850468 5 Biomarker BeFree, CTD_human 11192 DYX3 dyslexia susceptibility 3 umls:C0476254 Dyslexia 0.211417522850468 5 Biomarker BeFree, CTD_human 1978 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 umls:C0023467 Leukemia, Myeloid, Acute 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 2056 EPO erythropoietin umls:C0014072 Encephalomyelitis, Autoimmune, Experimental 0.211417522850468 6 Biomarker, Therapeutic BeFree, CTD_human 2067 ERCC1 excision repair cross-complementation group 1 umls:C0152013 Adenocarcinoma of lung 0.211417522850468 6 Biomarker BeFree, CTD_human 51010 EXOSC3 exosome component 3 umls:C1843504 Pontocerebellar Hypoplasia Type 1 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 2159 F10 coagulation factor X umls:C0005779 Blood Coagulation Disorders 0.211417522850468 6 Biomarker BeFree, CTD_human 84140 FAM161A family with sequence similarity 161, member A umls:C0035334 Retinitis Pigmentosa 0.211417522850468 5 Biomarker BeFree, CTD_human 2335 FN1 fibronectin 1 umls:C0017636 Glioblastoma 0.211417522850468 6 Biomarker BeFree, CTD_human 2305 FOXM1 forkhead box M1 umls:C0024121 Lung Neoplasms 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 umls:C0085681 Hyperphosphatemia 0.211417522850468 6 Biomarker BeFree, CTD_human 8200 GDF5 growth differentiation factor 5 umls:C1861385 Cushing's symphalangism 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C0018784 Hearing Loss, Sensorineural 0.211417522850468 6 Biomarker BeFree, CTD_human 169792 GLIS3 GLIS family zinc finger 3 umls:C0011860 Diabetes Mellitus, Type 2 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 2774 GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type umls:C0013421 Dystonia 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 2774 GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type umls:C0393593 Dystonic Disorders 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 2778 GNAS GNAS complex locus umls:C0221357 Brachydactyly 0.211417522850468 6 Biomarker BeFree, CTD_human 2778 GNAS GNAS complex locus umls:C0028754 Obesity 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 3062 HCRTR2 hypocretin (orexin) receptor 2 umls:C0027404 Narcolepsy 0.211417522850468 6 Biomarker BeFree, CTD_human 9759 HDAC4 histone deacetylase 4 umls:C2931817 Chromosome 2q37 deletion syndrome 0.211417522850468 5 Biomarker BeFree, CTD_human 170474 HFM Hemifacial microsomia umls:C0265240 Goldenhar Syndrome 0.211417522850468 5 Biomarker BeFree, CTD_human 10481 HOXB13 homeobox B13 umls:C2931456 Prostate cancer, familial 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0037286 Skin Neoplasms 0.211417522850468 11 Biomarker BeFree, CTD_human 3342 HTC2 hypertrichosis 2 (generalized, congenital) umls:C1855900 Hypertrichosis congenital generalized X-linked 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C2746066 2-Hydroxyglutaricaciduria 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0023903 Liver Neoplasms 0.211417522850468 6 Biomarker, Therapeutic BeFree, CTD_human 3456 IFNB1 interferon, beta 1, fibroblast umls:C0019163 Hepatitis B 0.211417522850468 6 Biomarker, Therapeutic BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0032285 Pneumonia 0.211417522850468 6 Biomarker BeFree, CTD_human 3586 IL10 interleukin 10 umls:C0014356 Enterocolitis 0.211417522850468 6 Biomarker BeFree, CTD_human 3596 IL13 interleukin 13 umls:C0007134 Carcinoma, Renal Cell 0.211417522850468 5 Biomarker BeFree, CTD_human 3605 IL17A interleukin 17A umls:C0032285 Pneumonia 0.211417522850468 6 Biomarker BeFree, CTD_human 3663 IRF5 interferon regulatory factor 5 umls:C0009324 Colitis, Ulcerative 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 3691 ITGB4 integrin, beta 4 umls:C0079301 Epidermolysis Bullosa, Junctional 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 3713 IVL involucrin umls:C0007137 Carcinoma, Squamous Cell 0.211417522850468 6 Biomarker BeFree, CTD_human 338567 KCNK18 potassium channel, two pore domain subfamily K, member 18 umls:C0149931 Migraine Disorders 0.211417522850468 5 Biomarker BeFree, CTD_human 3776 KCNK2 potassium channel, two pore domain subfamily K, member 2 umls:C0011581 Depressive Disorder 0.211417522850468 6 Biomarker BeFree, CTD_human 3816 KLK1 kallikrein 1 umls:C0027051 Myocardial Infarction 0.211417522850468 6 Biomarker, Therapeutic BeFree, CTD_human 3949 LDLR low density lipoprotein receptor umls:C0400966 Non-alcoholic Fatty Liver Disease 0.211417522850468 8 Biomarker BeFree, CTD_human 3952 LEP leptin umls:C0020619 Hypogonadism 0.211417522850468 6 Biomarker, Therapeutic BeFree, CTD_human 4004 LMO1 LIM domain only 1 (rhombotin 1) umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.211417522850468 6 Biomarker BeFree, CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0008073 Developmental Disabilities 0.211417522850468 6 Biomarker BeFree, CTD_human 4221 MEN1 multiple endocrine neoplasia I umls:C0206686 Adrenocortical Carcinoma 0.211417522850468 5 Biomarker BeFree, CTD_human 406937 MIR145 microRNA 145 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211417522850468 6 Biomarker, Therapeutic BeFree, CTD_human 4319 MMP10 matrix metallopeptidase 10 (stromelysin 2) umls:C0027627 Neoplasm Metastasis 0.211417522850468 5 Biomarker BeFree, CTD_human 4323 MMP14 matrix metallopeptidase 14 (membrane-inserted) umls:C0001418 Adenocarcinoma 0.211417522850468 6 Biomarker BeFree, CTD_human 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C0019880 Homocystinuria 0.211417522850468 5 Biomarker BeFree, CTD_human 4602 MYB v-myb avian myeloblastosis viral oncogene homolog umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.211417522850468 5 Biomarker BeFree, CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0024121 Lung Neoplasms 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0026986 Myelodysplastic Syndromes 0.211417522850468 6 Biomarker BeFree, CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0206093 Neuroectodermal Tumors 0.211417522850468 6 Biomarker BeFree, CTD_human 4665 NAB2 NGFI-A binding protein 2 (EGR1 binding protein 2) umls:C1266119 Solitary Fibrous Tumors 0.211417522850468 5 Biomarker BeFree, CTD_human 653361 NCF1 neutrophil cytosolic factor 1 umls:C0020538 Hypertension 0.211417522850468 7 Biomarker BeFree, CTD_human 4763 NF1 neurofibromin 1 umls:C1261473 Sarcoma 0.211417522850468 6 Biomarker BeFree, CTD_human 4852 NPY neuropeptide Y umls:C0014544 Epilepsy 0.211417522850468 7 Biomarker, Therapeutic BeFree, CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0028754 Obesity 0.211417522850468 5 Biomarker BeFree, CTD_human 5012 OTSC1 otosclerosis 1 umls:C0029899 Otosclerosis 0.211417522850468 5 Biomarker BeFree, CTD_human 55193 PBRM1 polybromo 1 umls:C0007134 Carcinoma, Renal Cell 0.211417522850468 7 Biomarker BeFree, CTD_human 65217 PCDH15 protocadherin-related 15 umls:C2931210 Usher syndrome, type 1F 0.211417522850468 5 Biomarker BeFree, CTD_human 5116 PCNT pericentrin umls:C0432246 Microcephalic Osteodysplastic Primordial Dwarfism, Type II 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 5828 PEX2 peroxisomal biogenesis factor 2 umls:C0043459 Zellweger Syndrome 0.211417522850468 6 Biomarker BeFree, CTD_human 5190 PEX6 peroxisomal biogenesis factor 6 umls:C1832200 Peroxisome biogenesis disorders 0.211417522850468 5 Biomarker BeFree, CTD_human 84295 PHF6 PHD finger protein 6 umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.211417522850468 5 Biomarker BeFree, CTD_human 5340 PLG plasminogen umls:C0020538 Hypertension 0.211417522850468 6 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0011849 Diabetes Mellitus 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 5444 PON1 paraoxonase 1 umls:C1862941 Amyotrophic Lateral Sclerosis, Sporadic 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0023903 Liver Neoplasms 0.211417522850468 6 Biomarker BeFree, CTD_human 5617 PRL prolactin umls:C0346302 Growth Hormone-Secreting Pituitary Adenoma 0.211417522850468 6 Biomarker BeFree, CTD_human 359825 PSORS9 psoriasis susceptibility 9 umls:C0033860 Psoriasis 0.211417522850468 5 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0149925 Small Cell Lung Carcinoma 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C1134719 Carcinoma, Ductal, Breast 0.211417522850468 5 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0007138 Carcinoma, Transitional Cell 0.211417522850468 9 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0011849 Diabetes Mellitus 0.211417522850468 6 Biomarker BeFree, CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211417522850468 5 Biomarker BeFree, CTD_human 10743 RAI1 retinoic acid induced 1 umls:C1970482 Potocki-Lupski syndrome 0.211417522850468 6 Biomarker BeFree, CTD_human 5909 RAP1GAP RAP1 GTPase activating protein umls:C0040136 Thyroid Neoplasms 0.211417522850468 6 Biomarker BeFree, CTD_human 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C0038505 Sturge-Weber Syndrome 0.211417522850468 5 Biomarker BeFree, CTD_human 5925 RB1 retinoblastoma 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.211417522850468 6 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 5949 RBP3 retinol binding protein 3, interstitial umls:C0042164 Uveitis 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 5972 REN renin umls:C0002871 Anemia 0.211417522850468 6 Biomarker BeFree, CTD_human 5979 RET ret proto-oncogene umls:C1609433 Hereditary renal agenesis 0.211417522850468 5 Biomarker BeFree, CTD_human 5994 RFXAP regulatory factor X-associated protein umls:C2931418 Bare lymphocyte syndrome 2 0.211417522850468 5 Biomarker BeFree, CTD_human 192142 RLS1 Restless legs syndrome, susceptibility to umls:C0035258 Restless Legs Syndrome 0.211417522850468 5 Biomarker BeFree, CTD_human 6299 SALL1 spalt-like transcription factor 1 umls:C0000768 Congenital Abnormalities 0.211417522850468 6 Biomarker BeFree, CTD_human 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C0027796 Neuralgia 0.211417522850468 6 Biomarker BeFree, CTD_human 10483 SEC23B Sec23 homolog B (S. cerevisiae) umls:C0002876 Anemia, Dyserythropoietic, Congenital 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C0002736 Amyotrophic Lateral Sclerosis 0.211417522850468 6 Biomarker BeFree, CTD_human 23411 SIRT1 sirtuin 1 umls:C0004364 Autoimmune Diseases 0.211417522850468 6 Biomarker BeFree, CTD_human 23411 SIRT1 sirtuin 1 umls:C0015695 Fatty Liver 0.211417522850468 8 Biomarker, Therapeutic BeFree, CTD_human 6519 SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 umls:C1848030 Hypotonia-Cystinuria Syndrome 0.211417522850468 5 Biomarker BeFree, CTD_human 4089 SMAD4 SMAD family member 4 umls:C0279628 Adenocarcinoma Of Esophagus 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0022116 Ischemia 0.211417522850468 6 Biomarker, Therapeutic BeFree, CTD_human 6667 SP1 Sp1 transcription factor umls:C0027627 Neoplasm Metastasis 0.211417522850468 6 Biomarker BeFree, CTD_human 6720 SREBF1 sterol regulatory element binding transcription factor 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.211417522850468 5 Biomarker BeFree, CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0033860 Psoriasis 0.211417522850468 6 Biomarker BeFree, CTD_human 7039 TGFA transforming growth factor, alpha umls:C0034069 Pulmonary Fibrosis 0.211417522850468 6 Biomarker BeFree, CTD_human 7056 THBD thrombomodulin umls:C2931788 Atypical Hemolytic Uremic Syndrome 0.211417522850468 5 Biomarker BeFree, CTD_human 7056 THBD thrombomodulin umls:C0023487 Leukemia, Promyelocytic, Acute 0.211417522850468 6 Biomarker BeFree, CTD_human 7086 TKT transketolase umls:C0349464 Korsakoff Syndrome 0.211417522850468 5 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0035309 Retinal Diseases 0.211417522850468 6 Biomarker BeFree, CTD_human 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0004364 Autoimmune Diseases 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 7157 TP53 tumor protein p53 umls:C0002736 Amyotrophic Lateral Sclerosis 0.211417522850468 5 Biomarker BeFree, CTD_human 7157 TP53 tumor protein p53 umls:C0040100 Thymoma 0.211417522850468 6 Biomarker BeFree, CTD_human 54209 TREM2 triggering receptor expressed on myeloid cells 2 umls:C0497327 Dementia 0.211417522850468 5 Biomarker BeFree, CTD_human 7249 TSC2 tuberous sclerosis 2 umls:C0037769 Spasms, Infantile 0.211417522850468 6 Biomarker BeFree, CTD_human 7253 TSHR thyroid stimulating hormone receptor umls:C0007097 Carcinoma 0.211417522850468 6 Biomarker BeFree, CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0035334 Retinitis Pigmentosa 0.211417522850468 6 Biomarker, GeneticVariation BeFree, CTD_human 7306 TYRP1 tyrosinase-related protein 1 umls:C2931599 Oculocutaneous albinism type 3 0.211417522850468 5 Biomarker BeFree, CTD_human 7337 UBE3A ubiquitin protein ligase E3A umls:C0014544 Epilepsy 0.211417522850468 6 Biomarker BeFree, CTD_human 7361 UGT1A UDP glucuronosyltransferase 1 family, polypeptide A complex locus umls:C0017551 Gilbert Disease 0.211417522850468 5 Biomarker, GeneticVariation BeFree, CTD_human 81622 UNC93B1 unc-93 homolog B1 (C. elegans) umls:C0276226 Encephalitis, Herpes Simplex 0.211417522850468 5 Biomarker BeFree, CTD_human 284403 WDR62 WD repeat domain 62 umls:C0025958 Microcephaly 0.211417522850468 6 Biomarker BeFree, CTD_human 64421 DCLRE1C DNA cross-link repair 1C umls:C0085110 Severe Combined Immunodeficiency 0.211409280654829 18 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 1832 DSP desmoplakin umls:C0878544 Cardiomyopathies 0.211331285630118 17 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 3659 IRF1 interferon regulatory factor 1 umls:C0699791 STOMACH CARCINOMA 0.211134018280375 5 Biomarker, GeneticVariation BeFree, UNIPROT 5077 PAX3 paired box 3 umls:C0079661 Klein-Waardenburg syndrome 0.211134018280375 4 Biomarker, GeneticVariation BeFree, UNIPROT 26040 SETBP1 SET binding protein 1 umls:C0023467 Leukemia, Myeloid, Acute 0.211134018280375 4 Biomarker, GeneticVariation BeFree, UNIPROT 252842 AAT1 Aortic aneurysm, familial thoracic 1 umls:C0345050 Aortic Aneurysm, Familial Thoracic 1 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0023890 Liver Cirrhosis 0.211134018280375 6 Biomarker BeFree, CTD_human 32 ACACB acetyl-CoA carboxylase beta umls:C0028754 Obesity 0.211134018280375 5 Biomarker BeFree, CTD_human 196 AHR aryl hydrocarbon receptor umls:C0003873 Arthritis, Rheumatoid 0.211134018280375 4 Biomarker BeFree, CTD_human 196 AHR aryl hydrocarbon receptor umls:C0027627 Neoplasm Metastasis 0.211134018280375 5 Biomarker, Therapeutic BeFree, CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.211134018280375 5 Biomarker, Therapeutic BeFree, CTD_human 348 APOE apolipoprotein E umls:C1863051 Alzheimer disease type 2 0.211134018280375 4 Biomarker BeFree, CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0003469 Anxiety Disorders 0.211134018280375 4 Biomarker BeFree, CTD_human 353 APRT adenine phosphoribosyltransferase umls:C0451641 Urolithiasis 0.211134018280375 5 Biomarker BeFree, CTD_human 558 AXL AXL receptor tyrosine kinase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211134018280375 5 Biomarker, Therapeutic BeFree, CTD_human 632 BGLAP bone gamma-carboxyglutamate (gla) protein umls:C0033578 Prostatic Neoplasms 0.211134018280375 5 Biomarker BeFree, CTD_human 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0587248 Costello Syndrome 0.211134018280375 5 Biomarker BeFree, CTD_human 775 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit umls:C0004352 Autistic Disorder 0.211134018280375 5 Biomarker BeFree, CTD_human 9607 CARTPT CART prepropeptide umls:C0003469 Anxiety Disorders 0.211134018280375 5 Biomarker BeFree, CTD_human 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C1136249 Mental Retardation, X-Linked 0.211134018280375 6 Biomarker BeFree, CTD_human 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C0025958 Microcephaly 0.211134018280375 4 Biomarker BeFree, CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C1328840 Autoimmune Lymphoproliferative Syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 847 CAT catalase umls:C0027627 Neoplasm Metastasis 0.211134018280375 7 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0023895 Liver Diseases 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 8900 CCNA1 cyclin A1 umls:C1168401 Carcinoma, squamous cell of head and neck 0.211134018280375 5 Biomarker BeFree, CTD_human 972 CD74 CD74 molecule, major histocompatibility complex, class II invariant chain umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211134018280375 5 Biomarker BeFree, CTD_human 974 CD79B CD79b molecule, immunoglobulin-associated beta umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.211134018280375 5 Biomarker BeFree, CTD_human 928 CD9 CD9 molecule umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211134018280375 5 Biomarker BeFree, CTD_human 1000 CDH2 cadherin 2, type 1, N-cadherin (neuronal) umls:C0027627 Neoplasm Metastasis 0.211134018280375 5 Biomarker BeFree, CTD_human 1021 CDK6 cyclin-dependent kinase 6 umls:C0023467 Leukemia, Myeloid, Acute 0.211134018280375 5 Biomarker BeFree, CTD_human 1106 CHD2 chromodomain helicase DNA binding protein 2 umls:C0014544 Epilepsy 0.211134018280375 4 Biomarker BeFree, CTD_human 1113 CHGA chromogranin A (parathyroid secretory protein 1) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211134018280375 5 Biomarker BeFree, CTD_human 1269 CNR2 cannabinoid receptor 2 (macrophage) umls:C0004153 Atherosclerosis 0.211134018280375 4 Biomarker, Therapeutic BeFree, CTD_human 152330 CNTN4 contactin 4 umls:C0004352 Autistic Disorder 0.211134018280375 5 Biomarker BeFree, CTD_human 26047 CNTNAP2 contactin associated protein-like 2 umls:C1970431 Pitt-Hopkins syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 1296 COL8A2 collagen, type VIII, alpha 2 umls:C0339284 Corneal Dystrophy, Posterior Polymorphous, 1 0.211134018280375 4 Biomarker BeFree, CTD_human 4513 COX2 cytochrome c oxidase subunit II umls:C0027819 Neuroblastoma 0.211134018280375 5 Biomarker BeFree, CTD_human 10815 CPLX1 complexin 1 umls:C0036341 Schizophrenia 0.211134018280375 5 Biomarker BeFree, CTD_human 1395 CRHR2 corticotropin releasing hormone receptor 2 umls:C0003469 Anxiety Disorders 0.211134018280375 5 Biomarker BeFree, CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0011854 Diabetes Mellitus, Type 1 0.211134018280375 5 Biomarker BeFree, CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0033860 Psoriasis 0.211134018280375 5 Biomarker BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0025202 Melanoma 0.211134018280375 6 Biomarker, Therapeutic BeFree, CTD_human 1523 CUX1 cut-like homeobox 1 umls:C0596263 Carcinogenesis 0.211134018280375 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0017658 Glomerulonephritis 0.211134018280375 6 Biomarker BeFree, CTD_human 1594 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 umls:C0020437 Hypercalcemia 0.211134018280375 5 Biomarker BeFree, CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0027627 Neoplasm Metastasis 0.211134018280375 4 Biomarker BeFree, CTD_human 1621 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) umls:C0031511 Pheochromocytoma 0.211134018280375 5 Biomarker BeFree, CTD_human 1637 DCR Down syndrome chromosome region umls:C0013080 Down Syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 10683 DLL3 delta-like 3 (Drosophila) umls:C0000768 Congenital Abnormalities 0.211134018280375 4 Biomarker BeFree, CTD_human 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0497327 Dementia 0.211134018280375 4 Biomarker BeFree, CTD_human 1789 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta umls:C0021051 Immunologic Deficiency Syndromes 0.211134018280375 5 Biomarker BeFree, CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C2239176 Carcinoma, Hepatocellular 0.211134018280375 4 Biomarker BeFree, CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0027627 Neoplasm Metastasis 0.211134018280375 5 Biomarker BeFree, CTD_human 1813 DRD2 dopamine receptor D2 umls:C0020538 Hypertension 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 1915 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 umls:C0007097 Carcinoma 0.211134018280375 5 Biomarker BeFree, CTD_human 1956 EGFR epidermal growth factor receptor umls:C0206686 Adrenocortical Carcinoma 0.211134018280375 4 Biomarker BeFree, CTD_human 1958 EGR1 early growth response 1 umls:C0022116 Ischemia 0.211134018280375 5 Biomarker BeFree, CTD_human 1967 EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa umls:C1847967 Vanishing White Matter Leukodystrophy with Ovarian Failure 0.211134018280375 4 Biomarker BeFree, CTD_human 2026 ENO2 enolase 2 (gamma, neuronal) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211134018280375 5 Biomarker BeFree, CTD_human 2057 EPOR erythropoietin receptor umls:C0025202 Melanoma 0.211134018280375 4 Biomarker BeFree, CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 2200 FBN1 fibrillin 1 umls:C0003706 Arachnodactyly 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0022658 Kidney Diseases 0.211134018280375 5 Biomarker BeFree, CTD_human 26291 FGF21 fibroblast growth factor 21 umls:C0015695 Fatty Liver 0.211134018280375 5 Biomarker, Therapeutic BeFree, CTD_human 2254 FGF9 fibroblast growth factor 9 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211134018280375 4 Biomarker BeFree, CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0017638 Glioma 0.211134018280375 5 Biomarker BeFree, CTD_human 2270 FGS2 FG syndrome 2 umls:C0220769 Opitz-Kaveggia syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 2309 FOXO3 forkhead box O3 umls:C0152013 Adenocarcinoma of lung 0.211134018280375 4 Biomarker BeFree, CTD_human 9846 GAB2 GRB2-associated binding protein 2 umls:C0027627 Neoplasm Metastasis 0.211134018280375 5 Biomarker BeFree, CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0017636 Glioblastoma 0.211134018280375 4 Biomarker BeFree, CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0031511 Pheochromocytoma 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 2670 GFAP glial fibrillary acidic protein umls:C0014544 Epilepsy 0.211134018280375 5 Biomarker BeFree, CTD_human 2670 GFAP glial fibrillary acidic protein umls:C0027765 Nervous System Diseases 0.211134018280375 7 Biomarker BeFree, CTD_human 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C0031117 Peripheral Nervous System Diseases 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 2904 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B umls:C3714756 Intellectual Disability 0.211134018280375 5 Biomarker BeFree, CTD_human 2952 GSTT1 glutathione S-transferase theta 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0011860 Diabetes Mellitus, Type 2 0.211134018280375 5 Biomarker BeFree, CTD_human 338442 HCAR2 hydroxycarboxylic acid receptor 2 umls:C0016382 Flushing 0.211134018280375 5 Biomarker BeFree, CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0027819 Neuroblastoma 0.211134018280375 4 Biomarker BeFree, CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0524851 Neurodegenerative Diseases 0.211134018280375 7 Biomarker BeFree, CTD_human 100124700 HOTAIR HOX transcript antisense RNA umls:C2239176 Carcinoma, Hepatocellular 0.211134018280375 4 Biomarker BeFree, CTD_human 3240 HP haptoglobin umls:C0004364 Autoimmune Diseases 0.211134018280375 5 Biomarker BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0024121 Lung Neoplasms 0.211134018280375 8 Biomarker BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0032927 Precancerous Conditions 0.211134018280375 5 Biomarker BeFree, CTD_human 3417 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble umls:C0345905 Intrahepatic cholangiocarcinoma 0.211134018280375 5 Biomarker BeFree, CTD_human 3417 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C0020981 Immunoblastic Lymphadenopathy 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C0345905 Intrahepatic cholangiocarcinoma 0.211134018280375 5 Biomarker BeFree, CTD_human 10986 IGAD1 immunoglobulin A (IgA) deficiency susceptibility 1 umls:C2931161 Immunoglobulin a deficiency 1 0.211134018280375 4 Biomarker BeFree, CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0010346 Crohn Disease 0.211134018280375 4 Biomarker BeFree, CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0022661 Kidney Failure, Chronic 0.211134018280375 5 Biomarker, Therapeutic BeFree, CTD_human 3586 IL10 interleukin 10 umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.211134018280375 5 Biomarker BeFree, CTD_human 3553 IL1B interleukin 1, beta umls:C0018801 Heart Failure 0.211134018280375 5 Biomarker BeFree, CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0162557 Liver Failure, Acute 0.211134018280375 4 Biomarker, Therapeutic BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0001175 Acquired Immunodeficiency Syndrome 0.211134018280375 5 Biomarker, Therapeutic BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0006118 Brain Neoplasms 0.211134018280375 5 Biomarker BeFree, CTD_human 3565 IL4 interleukin 4 umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.211134018280375 5 Biomarker BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0878544 Cardiomyopathies 0.211134018280375 5 Biomarker BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0020437 Hypercalcemia 0.211134018280375 5 Biomarker BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0036572 Seizures 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 3630 INS insulin umls:C0030305 Pancreatitis 0.211134018280375 5 Biomarker BeFree, CTD_human 3630 INS insulin umls:C1565489 Renal Insufficiency 0.211134018280375 6 Biomarker BeFree, CTD_human 9365 KL klotho umls:C0029456 Osteoporosis 0.211134018280375 5 Biomarker BeFree, CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C1458155 Breast Neoplasms 0.211134018280375 4 Biomarker BeFree, CTD_human 3854 KRT6B keratin 6B, type II umls:C0265334 Pachyonychia Congenita 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 27074 LAMP3 lysosomal-associated membrane protein 3 umls:C0021400 Influenza, Human 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 3930 LBR lamin B receptor umls:C2931048 HEM dysplasia 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 3952 LEP leptin umls:C0010346 Crohn Disease 0.211134018280375 4 Biomarker BeFree, CTD_human 3953 LEPR leptin receptor umls:C0020459 Hyperinsulinism 0.211134018280375 7 Biomarker BeFree, CTD_human 4000 LMNA lamin A/C umls:C0043119 Werner Syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 5605 MAP2K2 mitogen-activated protein kinase kinase 2 umls:C0025202 Melanoma 0.211134018280375 4 Biomarker BeFree, CTD_human 1432 MAPK14 mitogen-activated protein kinase 14 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.211134018280375 5 Biomarker, Therapeutic BeFree, CTD_human 4221 MEN1 multiple endocrine neoplasia I umls:C0017689 Glucagonoma 0.211134018280375 5 Biomarker BeFree, CTD_human 406986 MIR203A microRNA 203a umls:C0027627 Neoplasm Metastasis 0.211134018280375 5 Biomarker BeFree, CTD_human 407009 MIR224 microRNA 224 umls:C0027627 Neoplasm Metastasis 0.211134018280375 5 Biomarker BeFree, CTD_human 4436 MSH2 mutS homolog 2 umls:C0027831 Neurofibromatosis 1 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 4436 MSH2 mutS homolog 2 umls:C0919267 Ovarian Neoplasms 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0038356 Stomach Neoplasms 0.211134018280375 6 Biomarker BeFree, CTD_human 8648 NCOA1 nuclear receptor coactivator 1 umls:C0027627 Neoplasm Metastasis 0.211134018280375 4 Biomarker BeFree, CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0004153 Atherosclerosis 0.211134018280375 5 Biomarker BeFree, CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C1328840 Autoimmune Lymphoproliferative Syndrome 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 3084 NRG1 neuregulin 1 umls:C0018801 Heart Failure 0.211134018280375 4 Biomarker, Therapeutic BeFree, CTD_human 9378 NRXN1 neurexin 1 umls:C3714756 Intellectual Disability 0.211134018280375 5 Biomarker BeFree, CTD_human 9378 NRXN1 neurexin 1 umls:C1970431 Pitt-Hopkins syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 64324 NSD1 nuclear receptor binding SET domain protein 1 umls:C0265210 Weaver syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0036341 Schizophrenia 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 4998 ORC1 origin recognition complex, subunit 1 umls:C0025958 Microcephaly 0.211134018280375 4 Biomarker BeFree, CTD_human 9943 OXSR1 oxidative stress responsive 1 umls:C0020538 Hypertension 0.211134018280375 5 Biomarker, Therapeutic BeFree, CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0003469 Anxiety Disorders 0.211134018280375 5 Biomarker, Therapeutic BeFree, CTD_human 80025 PANK2 pantothenate kinase 2 umls:C0524851 Neurodegenerative Diseases 0.211134018280375 6 Biomarker BeFree, CTD_human 5116 PCNT pericentrin umls:C0265202 Seckel syndrome 1 0.211134018280375 4 Biomarker BeFree, CTD_human 5192 PEX10 peroxisomal biogenesis factor 10 umls:C1832200 Peroxisome biogenesis disorders 0.211134018280375 5 Biomarker BeFree, CTD_human 5190 PEX6 peroxisomal biogenesis factor 6 umls:C0043459 Zellweger Syndrome 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 5245 PHB prohibitin umls:C2239176 Carcinoma, Hepatocellular 0.211134018280375 5 Biomarker BeFree, CTD_human 5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta umls:C0033578 Prostatic Neoplasms 0.211134018280375 5 Biomarker BeFree, CTD_human 5309 PITX3 paired-like homeodomain 3 umls:C0026010 Microphthalmos 0.211134018280375 4 Biomarker BeFree, CTD_human 5312 PKD3 polycystic kidney disease 3 (autosomal dominant) umls:C0085413 Polycystic Kidney, Autosomal Dominant 0.211134018280375 4 Biomarker BeFree, CTD_human 7941 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) umls:C0038454 Stroke 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 10908 PNPLA6 patatin-like phospholipase domain containing 6 umls:C0037773 Spastic Paraplegia, Hereditary 0.211134018280375 5 Biomarker BeFree, CTD_human 9533 POLR1C polymerase (RNA) I polypeptide C, 30kDa umls:C0242387 Mandibulofacial Dysostosis 0.211134018280375 4 Biomarker BeFree, CTD_human 51082 POLR1D polymerase (RNA) I polypeptide D, 16kDa umls:C0242387 Mandibulofacial Dysostosis 0.211134018280375 4 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0004352 Autistic Disorder 0.211134018280375 5 Biomarker BeFree, CTD_human 5444 PON1 paraoxonase 1 umls:C0011581 Depressive Disorder 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 5444 PON1 paraoxonase 1 umls:C0282550 Persian Gulf Syndrome 0.211134018280375 5 Biomarker BeFree, CTD_human 25913 POT1 protection of telomeres 1 umls:C0025202 Melanoma 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0017638 Glioma 0.211134018280375 4 Biomarker BeFree, CTD_human 10216 PRG4 proteoglycan 4 umls:C0031046 Pericarditis 0.211134018280375 5 Biomarker BeFree, CTD_human 5589 PRKCSH protein kinase C substrate 80K-H umls:C0022680 Polycystic Kidney Diseases 0.211134018280375 5 Biomarker BeFree, CTD_human 5617 PRL prolactin umls:C0014175 Endometriosis 0.211134018280375 5 Biomarker BeFree, CTD_human 5621 PRNP prion protein umls:C0027627 Neoplasm Metastasis 0.211134018280375 5 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0023801 Lipomatosis 0.211134018280375 4 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0028754 Obesity 0.211134018280375 5 Biomarker BeFree, CTD_human 100038247 PTLS Potocki-Lupski syndrome umls:C1970482 Potocki-Lupski syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0587248 Costello Syndrome 0.211134018280375 5 Biomarker BeFree, CTD_human 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0027819 Neuroblastoma 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 5816 PVALB parvalbumin umls:C0007134 Carcinoma, Renal Cell 0.211134018280375 4 Biomarker BeFree, CTD_human 5829 PXN paxillin umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.211134018280375 4 Biomarker BeFree, CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0001418 Adenocarcinoma 0.211134018280375 4 Biomarker BeFree, CTD_human 5914 RARA retinoic acid receptor, alpha umls:C2239176 Carcinoma, Hepatocellular 0.211134018280375 5 Biomarker BeFree, CTD_human 54715 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 umls:C0004352 Autistic Disorder 0.211134018280375 5 Biomarker BeFree, CTD_human 5972 REN renin umls:C0221043 Liddle Syndrome 0.211134018280375 5 Biomarker BeFree, CTD_human 387 RHOA ras homolog family member A umls:C0020981 Immunoblastic Lymphadenopathy 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 79621 RNASEH2B ribonuclease H2, subunit B umls:C0796126 Aicardi-Goutieres syndrome 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C0752282 Myopathies, Structural, Congenital 0.211134018280375 4 Biomarker BeFree, CTD_human 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C0751882 Myasthenic Syndromes, Congenital 0.211134018280375 5 Biomarker BeFree, CTD_human 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C0027765 Nervous System Diseases 0.211134018280375 5 Biomarker BeFree, CTD_human 9997 SCO2 SCO2 cytochrome c oxidase assembly protein umls:C0878544 Cardiomyopathies 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 29072 SETD2 SET domain containing 2 umls:C0023418 Leukemia 0.211134018280375 4 Biomarker BeFree, CTD_human 6455 SH3GL1 SH3-domain GRB2-like 1 umls:C0023467 Leukemia, Myeloid, Acute 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 6559 SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 umls:C0022658 Kidney Diseases 0.211134018280375 5 Biomarker BeFree, CTD_human 57468 SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 umls:C0014544 Epilepsy 0.211134018280375 6 Biomarker BeFree, CTD_human 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C0019625 Histiocytosis, Sinus 0.211134018280375 4 Biomarker BeFree, CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0007134 Carcinoma, Renal Cell 0.211134018280375 5 Biomarker BeFree, CTD_human 91252 SLC39A13 solute carrier family 39 (zinc transporter), member 13 umls:C0013720 Ehlers-Danlos Syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 25800 SLC39A6 solute carrier family 39 (zinc transporter), member 6 umls:C0027627 Neoplasm Metastasis 0.211134018280375 5 Biomarker BeFree, CTD_human 57152 SLURP1 secreted LY6/PLAUR domain containing 1 umls:C0022596 Keratoderma, Palmoplantar 0.211134018280375 4 Biomarker BeFree, CTD_human 6663 SOX10 SRY (sex determining region Y)-box 10 umls:C2700265 Waardenburg syndrome type 2 0.211134018280375 4 Biomarker BeFree, CTD_human 6657 SOX2 SRY (sex determining region Y)-box 2 umls:C0024121 Lung Neoplasms 0.211134018280375 5 Biomarker BeFree, CTD_human 6657 SOX2 SRY (sex determining region Y)-box 2 umls:C0149925 Small Cell Lung Carcinoma 0.211134018280375 4 Biomarker BeFree, CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0006118 Brain Neoplasms 0.211134018280375 5 Biomarker BeFree, CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0004153 Atherosclerosis 0.211134018280375 5 Biomarker BeFree, CTD_human 23345 SYNE1 spectrin repeat containing, nuclear envelope 1 umls:C0410189 Muscular Dystrophy, Emery-Dreifuss 0.211134018280375 4 Biomarker BeFree, CTD_human 8831 SYNGAP1 synaptic Ras GTPase activating protein 1 umls:C0014544 Epilepsy 0.211134018280375 4 Biomarker BeFree, CTD_human 5726 TAS2R38 taste receptor, type 2, member 38 umls:C0001973 Alcoholism 0.211134018280375 4 Biomarker BeFree, CTD_human 6898 TAT tyrosine aminotransferase umls:C0268483 Tyrosinemias 0.211134018280375 4 Biomarker BeFree, CTD_human 6949 TCOF1 Treacher Collins-Franceschetti syndrome 1 umls:C0376634 Craniofacial Abnormalities 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 7037 TFRC transferrin receptor umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.211134018280375 5 Biomarker, GeneticVariation BeFree, CTD_human 7039 TGFA transforming growth factor, alpha umls:C0033578 Prostatic Neoplasms 0.211134018280375 4 Biomarker, Therapeutic BeFree, CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0030354 Papilloma 0.211134018280375 5 Biomarker BeFree, CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0041956 Ureteral Obstruction 0.211134018280375 5 Biomarker BeFree, CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0162872 Aortic Aneurysm, Thoracic 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C0037286 Skin Neoplasms 0.211134018280375 4 Biomarker BeFree, CTD_human 7052 TGM2 transglutaminase 2 umls:C0007134 Carcinoma, Renal Cell 0.211134018280375 5 Biomarker BeFree, CTD_human 7099 TLR4 toll-like receptor 4 umls:C0340288 Angina, Stable 0.211134018280375 5 Biomarker BeFree, CTD_human 25816 TNFAIP8 tumor necrosis factor, alpha-induced protein 8 umls:C0027627 Neoplasm Metastasis 0.211134018280375 4 Biomarker BeFree, CTD_human 7170 TPM3 tropomyosin 3 umls:C0040136 Thyroid Neoplasms 0.211134018280375 5 Biomarker BeFree, CTD_human 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0026847 Muscular Atrophy, Spinal 0.211134018280375 5 Biomarker BeFree, CTD_human 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0020443 Hypercholesterolemia 0.211134018280375 5 Biomarker BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0023470 Leukemia, Myeloid 0.211134018280375 4 Biomarker BeFree, CTD_human 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C0001430 Adenoma 0.211134018280375 5 Biomarker BeFree, CTD_human 63894 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog umls:C1859722 Arthrogryposis renal dysfunction cholestasis syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 54113 VUR Vesicoureteral reflux umls:C0042580 Vesico-Ureteral Reflux 0.211134018280375 4 Biomarker BeFree, CTD_human 80326 WNT10A wingless-type MMTV integration site family, member 10A umls:C1857069 Schopf-Schulz-Passarge Syndrome 0.211134018280375 4 Biomarker BeFree, CTD_human 51067 YARS2 tyrosyl-tRNA synthetase 2, mitochondrial umls:C1838103 Myopathy with lactic acidosis and sideroblastic anemia 0.211134018280375 4 Biomarker, GeneticVariation BeFree, CTD_human 7538 ZFP36 ZFP36 ring finger protein umls:C0003864 Arthritis 0.211134018280375 5 AlteredExpression, Biomarker BeFree, CTD_human 846 CASR calcium-sensing receptor umls:C0342345 Hypercalciuric Hypocalcemia, Familial 0.211056678233653 39 Biomarker, GeneticVariation BeFree, CLINVAR 5189 PEX1 peroxisomal biogenesis factor 1 umls:C0282527 Refsum Disease, Infantile 0.210850513710281 3 Biomarker, GeneticVariation BeFree, UNIPROT 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C3665593 Nevus, Epidermal 0.210850513710281 3 Biomarker, GeneticVariation BeFree, UNIPROT 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C3276228 ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE 0.210850513710281 3 Biomarker, GeneticVariation BeFree, UNIPROT 2624 GATA2 GATA binding protein 2 umls:C3463824 MYELODYSPLASTIC SYNDROME 0.210850513710281 3 Biomarker, GeneticVariation BeFree, UNIPROT 5696 PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 umls:C3278560 CANDLE syndrome 0.210850513710281 4 Biomarker, GeneticVariation BeFree, UNIPROT 2778 GNAS GNAS complex locus umls:C2932716 Pseudohypoparathyroidism Type 1C 0.210850513710281 3 Biomarker, GeneticVariation BeFree, UNIPROT 26504 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 umls:C3495589 JALILI SYNDROME 0.210850513710281 4 Biomarker, GeneticVariation BeFree, UNIPROT 2 A2M alpha-2-macroglobulin umls:C0024115 Lung Diseases 0.210850513710281 3 Biomarker BeFree, CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0014859 Esophageal Neoplasms 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0042963 Vomiting 0.210850513710281 4 Biomarker BeFree, CTD_human 8647 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 umls:C0033774 Pruritus 0.210850513710281 4 Biomarker BeFree, CTD_human 5825 ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 umls:C0043459 Zellweger Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 51 ACOX1 acyl-CoA oxidase 1, palmitoyl umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 4 Biomarker BeFree, CTD_human 60 ACTB actin, beta umls:C0007097 Carcinoma 0.210850513710281 4 Biomarker BeFree, CTD_human 9510 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 3 Biomarker BeFree, CTD_human 177 AGER advanced glycosylation end product-specific receptor umls:C0020456 Hyperglycemia 0.210850513710281 4 Biomarker BeFree, CTD_human 196 AHR aryl hydrocarbon receptor umls:C0021364 Infertility, Male 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 57379 AICDA activation-induced cytidine deaminase umls:C0004364 Autoimmune Diseases 0.210850513710281 4 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0027726 Nephrotic Syndrome 0.210850513710281 5 Biomarker BeFree, CTD_human 214 ALCAM activated leukocyte cell adhesion molecule umls:C0007097 Carcinoma 0.210850513710281 4 Biomarker BeFree, CTD_human 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0007134 Carcinoma, Renal Cell 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0003873 Arthritis, Rheumatoid 0.210850513710281 4 Biomarker BeFree, CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0027627 Neoplasm Metastasis 0.210850513710281 4 Biomarker BeFree, CTD_human 301 ANXA1 annexin A1 umls:C0007097 Carcinoma 0.210850513710281 5 Biomarker BeFree, CTD_human 302 ANXA2 annexin A2 umls:C0007137 Carcinoma, Squamous Cell 0.210850513710281 4 Biomarker BeFree, CTD_human 317 APAF1 apoptotic peptidase activating factor 1 umls:C0007138 Carcinoma, Transitional Cell 0.210850513710281 3 Biomarker BeFree, CTD_human 335 APOA1 apolipoprotein A-I umls:C0019693 HIV Infections 0.210850513710281 4 AlteredExpression, Biomarker BeFree, CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0002622 Amnesia 0.210850513710281 4 Biomarker BeFree, CTD_human 353 APRT adenine phosphoribosyltransferase umls:C1458155 Breast Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 366 AQP9 aquaporin 9 umls:C0023487 Leukemia, Promyelocytic, Acute 0.210850513710281 3 Biomarker BeFree, CTD_human 367 AR androgen receptor umls:C0023418 Leukemia 0.210850513710281 3 AlteredExpression, Biomarker BeFree, CTD_human 196528 ARID2 AT rich interactive domain 2 (ARID, RFX-like) umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 4 Biomarker BeFree, CTD_human 170302 ARX aristaless related homeobox umls:C0796250 Partington X-linked mental retardation syndrome 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 472 ATM ATM serine/threonine kinase umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 4 Biomarker BeFree, CTD_human 23400 ATP13A2 ATPase type 13A2 umls:C0027877 Neuronal Ceroid-Lipofuscinoses 0.210850513710281 4 Biomarker BeFree, CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0206754 Neuroendocrine Tumors 0.210850513710281 3 Biomarker BeFree, CTD_human 6790 AURKA aurora kinase A umls:C0025202 Melanoma 0.210850513710281 4 Biomarker BeFree, CTD_human 551 AVP arginine vasopressin umls:C0018801 Heart Failure 0.210850513710281 4 Biomarker BeFree, CTD_human 581 BAX BCL2-associated X protein umls:C0027051 Myocardial Infarction 0.210850513710281 4 Biomarker BeFree, CTD_human 64919 BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) umls:C0024299 Lymphoma 0.210850513710281 4 Biomarker BeFree, CTD_human 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0002448 Ameloblastoma 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 675 BRCA2 breast cancer 2, early onset umls:C0025149 Medulloblastoma 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 7832 BTG2 BTG family, member 2 umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 3 Biomarker BeFree, CTD_human 64170 CARD9 caspase recruitment domain family, member 9 umls:C0021390 Inflammatory Bowel Diseases 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 55036 CCDC40 coiled-coil domain containing 40 umls:C0022521 Kartagener Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 885 CCK cholecystokinin umls:C0030305 Pancreatitis 0.210850513710281 4 Biomarker BeFree, CTD_human 729230 CCR2 chemokine (C-C motif) receptor 2 umls:C0023895 Liver Diseases 0.210850513710281 4 Biomarker BeFree, CTD_human 1232 CCR3 chemokine (C-C motif) receptor 3 umls:C0011615 Dermatitis, Atopic 0.210850513710281 4 Biomarker BeFree, CTD_human 1235 CCR6 chemokine (C-C motif) receptor 6 umls:C0009324 Colitis, Ulcerative 0.210850513710281 4 Biomarker BeFree, CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C0030297 Pancreatic Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 942 CD86 CD86 molecule umls:C0026764 Multiple Myeloma 0.210850513710281 4 Biomarker BeFree, CTD_human 928 CD9 CD9 molecule umls:C0023467 Leukemia, Myeloid, Acute 0.210850513710281 4 Biomarker BeFree, CTD_human 998 CDC42 cell division cycle 42 umls:C0007097 Carcinoma 0.210850513710281 4 Biomarker BeFree, CTD_human 5218 CDK14 cyclin-dependent kinase 14 umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 3 Biomarker BeFree, CTD_human 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0019693 HIV Infections 0.210850513710281 4 AlteredExpression, Biomarker BeFree, CTD_human 100048912 CDKN2B-AS1 CDKN2B antisense RNA 1 umls:C0014175 Endometriosis 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 100048912 CDKN2B-AS1 CDKN2B antisense RNA 1 umls:C0017612 Glaucoma, Open-Angle 0.210850513710281 3 Biomarker BeFree, CTD_human 23436 CELA3B chymotrypsin-like elastase family, member 3B umls:C0267963 Exocrine Pancreatic Insufficiency 0.210850513710281 4 Biomarker BeFree, CTD_human 1066 CES1 carboxylesterase 1 umls:C0028754 Obesity 0.210850513710281 3 Biomarker BeFree, CTD_human 629 CFB complement factor B umls:C2931788 Atypical Hemolytic Uremic Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 11200 CHEK2 checkpoint kinase 2 umls:C2931456 Prostate cancer, familial 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 55743 CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210850513710281 3 Biomarker BeFree, CTD_human 1116 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) umls:C0029408 Osteoarthritis 0.210850513710281 4 Biomarker BeFree, CTD_human 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C0036572 Seizures 0.210850513710281 5 Biomarker BeFree, CTD_human 1366 CLDN7 claudin 7 umls:C0677886 Ovarian epithelial cancer 0.210850513710281 4 Biomarker BeFree, CTD_human 1192 CLIC1 chloride intracellular channel 1 umls:C0027627 Neoplasm Metastasis 0.210850513710281 4 Biomarker BeFree, CTD_human 1191 CLU clusterin umls:C0029408 Osteoarthritis 0.210850513710281 4 Biomarker BeFree, CTD_human 1257 CNC2 Carney complex type 2, multiple neoplasia and lentiginosis umls:C0406810 Carney Complex 0.210850513710281 3 Biomarker BeFree, CTD_human 1269 CNR2 cannabinoid receptor 2 (macrophage) umls:C0011581 Depressive Disorder 0.210850513710281 3 Biomarker BeFree, CTD_human 11151 CORO1A coronin, actin binding protein, 1A umls:C0041296 Tuberculosis 0.210850513710281 4 Biomarker BeFree, CTD_human 1410 CRYAB crystallin, alpha B umls:C0524851 Neurodegenerative Diseases 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 1436 CSF1R colony stimulating factor 1 receptor umls:C0270612 Leukoencephalopathies 0.210850513710281 4 Biomarker BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C1458155 Breast Neoplasms 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0001824 Agranulocytosis 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0007097 Carcinoma 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0027627 Neoplasm Metastasis 0.210850513710281 5 Biomarker, Therapeutic BeFree, CTD_human 1442 CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) umls:C0175693 Silver-Russell Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 1471 CST3 cystatin C umls:C0268393 Cerebral Amyloid Angiopathy, Familial 0.210850513710281 4 Biomarker BeFree, CTD_human 1491 CTH cystathionine gamma-lyase umls:C0268616 Gamma-cystathionase deficiency 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 1495 CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa umls:C0026986 Myelodysplastic Syndromes 0.210850513710281 4 Biomarker BeFree, CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0023890 Liver Cirrhosis 0.210850513710281 4 Biomarker BeFree, CTD_human 1509 CTSD cathepsin D umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 4 Biomarker BeFree, CTD_human 1727 CYB5R3 cytochrome b5 reductase 3 umls:C0010520 Cyanosis 0.210850513710281 4 Biomarker BeFree, CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 3 Biomarker BeFree, CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0007137 Carcinoma, Squamous Cell 0.210850513710281 3 Biomarker BeFree, CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 1581 CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 umls:C0008370 Cholestasis 0.210850513710281 5 Biomarker BeFree, CTD_human 728294 D2HGDH D-2-hydroxyglutarate dehydrogenase umls:C2746066 2-Hydroxyglutaricaciduria 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 9681 DEPDC5 DEP domain containing 5 umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 1738 DLD dihydrolipoamide dehydrogenase umls:C0023264 Leigh Disease 0.210850513710281 3 Biomarker BeFree, CTD_human 1755 DMBT1 deleted in malignant brain tumors 1 umls:C0025149 Medulloblastoma 0.210850513710281 3 Biomarker BeFree, CTD_human 352909 DNAAF3 dynein, axonemal, assembly factor 3 umls:C0022521 Kartagener Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0007097 Carcinoma 0.210850513710281 4 Biomarker BeFree, CTD_human 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0027889 Hereditary Sensory and Autonomic Neuropathies 0.210850513710281 3 Biomarker BeFree, CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0027947 Neutropenia 0.210850513710281 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 1813 DRD2 dopamine receptor D2 umls:C0026650 Movement Disorders 0.210850513710281 4 Biomarker BeFree, CTD_human 50966 ECA1 epilepsy, childhood absence 1 umls:C0014553 Epilepsy, Absence 0.210850513710281 3 Biomarker BeFree, CTD_human 1978 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 umls:C0334634 Lymphoma, Mantle-Cell 0.210850513710281 3 Biomarker BeFree, CTD_human 2056 EPO erythropoietin umls:C0005283 beta-Thalassemia 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0030354 Papilloma 0.210850513710281 4 AlteredExpression, Biomarker BeFree, CTD_human 2067 ERCC1 excision repair cross-complementation group 1 umls:C2931822 Nasopharyngeal carcinoma 0.210850513710281 4 AlteredExpression, Biomarker BeFree, CTD_human 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0025149 Medulloblastoma 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 2138 EYA1 EYA transcriptional coactivator and phosphatase 1 umls:C0000768 Congenital Abnormalities 0.210850513710281 4 Biomarker BeFree, CTD_human 2200 FBN1 fibrillin 1 umls:C1321551 Shprintzen Golberg craniosynostosis 0.210850513710281 3 Biomarker BeFree, CTD_human 2258 FGF13 fibroblast growth factor 13 umls:C0027627 Neoplasm Metastasis 0.210850513710281 4 Biomarker BeFree, CTD_human 2253 FGF8 fibroblast growth factor 8 (androgen-induced) umls:C0162809 Kallmann Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0004114 Astrocytoma 0.210850513710281 4 Biomarker BeFree, CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0008925 Cleft Palate 0.210850513710281 4 Biomarker BeFree, CTD_human 9896 FIG4 FIG4 phosphoinositide 5-phosphatase umls:C0031117 Peripheral Nervous System Diseases 0.210850513710281 4 Biomarker BeFree, CTD_human 2328 FMO3 flavin containing monooxygenase 3 umls:C0032580 Adenomatous Polyposis Coli 0.210850513710281 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 2332 FMR1 fragile X mental retardation 1 umls:C0000768 Congenital Abnormalities 0.210850513710281 4 Biomarker BeFree, CTD_human 2303 FOXC2 forkhead box C2 umls:C0238261 Lymphedema, Hereditary, II 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 2290 FOXG1 forkhead box G1 umls:C0036572 Seizures 0.210850513710281 3 Biomarker BeFree, CTD_human 9846 GAB2 GRB2-associated binding protein 2 umls:C0025202 Melanoma 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 2560 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 umls:C0004352 Autistic Disorder 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 2619 GAS1 growth arrest-specific 1 umls:C0079541 Holoprosencephaly 0.210850513710281 3 Biomarker BeFree, CTD_human 2624 GATA2 GATA binding protein 2 umls:C0024236 Lymphedema 0.210850513710281 4 Biomarker BeFree, CTD_human 2626 GATA4 GATA binding protein 4 umls:C0001973 Alcoholism 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 2729 GCLC glutamate-cysteine ligase, catalytic subunit umls:C0002878 Anemia, Hemolytic 0.210850513710281 3 Biomarker BeFree, CTD_human 2664 GDI1 GDP dissociation inhibitor 1 umls:C1136249 Mental Retardation, X-Linked 0.210850513710281 5 Biomarker BeFree, CTD_human 2670 GFAP glial fibrillary acidic protein umls:C0027873 Neuromyelitis Optica 0.210850513710281 4 Biomarker BeFree, CTD_human 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0020757 Ichthyosis 0.210850513710281 4 Biomarker BeFree, CTD_human 2737 GLI3 GLI family zinc finger 3 umls:C0796147 Acrocallosal Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 2739 GLO1 glyoxalase I umls:C0003469 Anxiety Disorders 0.210850513710281 4 Biomarker BeFree, CTD_human 10399 GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 umls:C0007137 Carcinoma, Squamous Cell 0.210850513710281 4 Biomarker BeFree, CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0007222 Cardiovascular Diseases 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0376532 Epilepsy, Rolandic 0.210850513710281 4 Biomarker BeFree, CTD_human 2944 GSTM1 glutathione S-transferase mu 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210850513710281 3 Biomarker BeFree, CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210850513710281 3 Biomarker BeFree, CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0878544 Cardiomyopathies 0.210850513710281 3 Biomarker, Therapeutic BeFree, CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0206734 Hemangioblastoma 0.210850513710281 4 Biomarker BeFree, CTD_human 3092 HIP1 huntingtin interacting protein 1 umls:C0033578 Prostatic Neoplasms 0.210850513710281 3 Biomarker BeFree, CTD_human 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0026896 Myasthenia Gravis 0.210850513710281 4 Biomarker BeFree, CTD_human 3156 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 5 Biomarker BeFree, CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0023895 Liver Diseases 0.210850513710281 6 Biomarker, Therapeutic BeFree, CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0034067 Pulmonary Emphysema 0.210850513710281 3 Biomarker BeFree, CTD_human 3206 HOXA10 homeobox A10 umls:C0001418 Adenocarcinoma 0.210850513710281 3 Biomarker BeFree, CTD_human 3240 HP haptoglobin umls:C0023418 Leukemia 0.210850513710281 4 Biomarker BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C1275081 Cardiofaciocutaneous syndrome 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0028326 Noonan Syndrome 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 3295 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 umls:C0043459 Zellweger Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 3320 HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 umls:C0019693 HIV Infections 0.210850513710281 4 Biomarker BeFree, CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0023467 Leukemia, Myeloid, Acute 0.210850513710281 4 Biomarker BeFree, CTD_human 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C0019693 HIV Infections 0.210850513710281 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 3064 HTT huntingtin umls:C0026650 Movement Disorders 0.210850513710281 4 Biomarker BeFree, CTD_human 50942 IBD6 inflammatory bowel disease 6 umls:C0021390 Inflammatory Bowel Diseases 0.210850513710281 3 Biomarker BeFree, CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0151744 Myocardial Ischemia 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0035309 Retinal Diseases 0.210850513710281 4 Biomarker BeFree, CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0001418 Adenocarcinoma 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0007137 Carcinoma, Squamous Cell 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 3454 IFNAR1 interferon (alpha, beta and omega) receptor 1 umls:C0042769 Virus Diseases 0.210850513710281 4 Biomarker BeFree, CTD_human 3455 IFNAR2 interferon (alpha, beta and omega) receptor 2 umls:C0019163 Hepatitis B 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0019158 Hepatitis 0.210850513710281 4 Biomarker BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0022398 Job Syndrome 0.210850513710281 4 Biomarker BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0023487 Leukemia, Promyelocytic, Acute 0.210850513710281 4 Biomarker BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0025500 Mesothelioma 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0031154 Peritonitis 0.210850513710281 4 Biomarker BeFree, CTD_human 8100 IFT88 intraflagellar transport 88 umls:C0023903 Liver Neoplasms 0.210850513710281 3 Biomarker BeFree, CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0032019 Pituitary Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0206686 Adrenocortical Carcinoma 0.210850513710281 4 Biomarker BeFree, CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0032927 Precancerous Conditions 0.210850513710281 4 Biomarker BeFree, CTD_human 3588 IL10RB interleukin 10 receptor, beta umls:C0019163 Hepatitis B 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 3553 IL1B interleukin 1, beta umls:C1458155 Breast Neoplasms 0.210850513710281 5 Biomarker BeFree, CTD_human 3553 IL1B interleukin 1, beta umls:C0878544 Cardiomyopathies 0.210850513710281 4 Biomarker BeFree, CTD_human 3553 IL1B interleukin 1, beta umls:C0017658 Glomerulonephritis 0.210850513710281 5 Biomarker BeFree, CTD_human 3553 IL1B interleukin 1, beta umls:C0151744 Myocardial Ischemia 0.210850513710281 4 Biomarker BeFree, CTD_human 3553 IL1B interleukin 1, beta umls:C0085655 Polymyositis 0.210850513710281 4 Biomarker BeFree, CTD_human 3553 IL1B interleukin 1, beta umls:C0042109 Urticaria 0.210850513710281 4 Biomarker BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0024121 Lung Neoplasms 0.210850513710281 6 Biomarker, Therapeutic BeFree, CTD_human 149233 IL23R interleukin 23 receptor umls:C0023343 Leprosy 0.210850513710281 3 Biomarker BeFree, CTD_human 11009 IL24 interleukin 24 umls:C1458155 Breast Neoplasms 0.210850513710281 5 Biomarker, Therapeutic BeFree, CTD_human 246778 IL27 interleukin 27 umls:C0033578 Prostatic Neoplasms 0.210850513710281 3 Biomarker, Therapeutic BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0993582 Arthritis, Experimental 0.210850513710281 5 Biomarker BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0004352 Autistic Disorder 0.210850513710281 4 Biomarker BeFree, CTD_human 3575 IL7R interleukin 7 receptor umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.210850513710281 3 Biomarker BeFree, CTD_human 3614 IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 umls:C0339527 Leber Congenital Amaurosis 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 10527 IPO7 importin 7 umls:C0019693 HIV Infections 0.210850513710281 4 AlteredExpression, Biomarker BeFree, CTD_human 23096 IQSEC2 IQ motif and Sec7 domain 2 umls:C3714756 Intellectual Disability 0.210850513710281 3 Biomarker BeFree, CTD_human 8660 IRS2 insulin receptor substrate 2 umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 4 Biomarker BeFree, CTD_human 729920 ISPD isoprenoid synthase domain containing umls:C0265221 Walker-Warburg Syndrome 0.210850513710281 4 Biomarker BeFree, CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0011603 Dermatitis 0.210850513710281 4 Biomarker BeFree, CTD_human 3694 ITGB6 integrin, beta 6 umls:C0034067 Pulmonary Emphysema 0.210850513710281 3 Biomarker BeFree, CTD_human 8629 JRK Jrk homolog (mouse) umls:C0014553 Epilepsy, Absence 0.210850513710281 4 Biomarker BeFree, CTD_human 3725 JUN jun proto-oncogene umls:C0023903 Liver Neoplasms 0.210850513710281 5 Biomarker BeFree, CTD_human 10008 KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 umls:C0238357 Paralysis, Hyperkalemic Periodic 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 4 Biomarker BeFree, CTD_human 3827 KNG1 kininogen 1 umls:C2931758 Acquired angioedema 0.210850513710281 4 Biomarker BeFree, CTD_human 3827 KNG1 kininogen 1 umls:C0020429 Hyperalgesia 0.210850513710281 12 Biomarker BeFree, CTD_human 3868 KRT16 keratin 16, type I umls:C1833030 Palmoplantar Keratoderma, Nonepidermolytic 0.210850513710281 3 Biomarker BeFree, CTD_human 3913 LAMB2 laminin, beta 2 (laminin S) umls:C0268747 Mesangial sclerosis, diffuse 0.210850513710281 4 Biomarker BeFree, CTD_human 3915 LAMC1 laminin, gamma 1 (formerly LAMB2) umls:C0877015 Pelvic Organ Prolapse 0.210850513710281 3 Biomarker BeFree, CTD_human 3952 LEP leptin umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 3953 LEPR leptin receptor umls:C0242339 Dyslipidemias 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 3972 LHB luteinizing hormone beta polypeptide umls:C0032460 Polycystic Ovary Syndrome 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 4015 LOX lysyl oxidase umls:C0029463 Osteosarcoma 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 4023 LPL lipoprotein lipase umls:C0878544 Cardiomyopathies 0.210850513710281 4 Biomarker BeFree, CTD_human 5605 MAP2K2 mitogen-activated protein kinase kinase 2 umls:C0587248 Costello Syndrome 0.210850513710281 4 Biomarker BeFree, CTD_human 4217 MAP3K5 mitogen-activated protein kinase kinase kinase 5 umls:C0011849 Diabetes Mellitus 0.210850513710281 4 Biomarker BeFree, CTD_human 1432 MAPK14 mitogen-activated protein kinase 14 umls:C0023903 Liver Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0878544 Cardiomyopathies 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 9782 MATR3 matrin 3 umls:C0751336 Distal Myopathies 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 90411 MCFD2 multiple coagulation factor deficiency 2 umls:C1856883 Familial Multiple Coagulation Factor Deficiency I 0.210850513710281 3 Biomarker BeFree, CTD_human 84466 MEGF10 multiple EGF-like-domains 10 umls:C0026848 Muscular Diseases 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 56955 MEPE matrix extracellular phosphoglycoprotein umls:C0029442 Osteomalacia 0.210850513710281 4 Biomarker BeFree, CTD_human 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0023467 Leukemia, Myeloid, Acute 0.210850513710281 3 Biomarker BeFree, CTD_human 406938 MIR146A microRNA 146a umls:C1956346 Coronary Artery Disease 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 406991 MIR21 microRNA 21 umls:C0028754 Obesity 0.210850513710281 4 Biomarker BeFree, CTD_human 407007 MIR222 microRNA 222 umls:C0027627 Neoplasm Metastasis 0.210850513710281 3 Biomarker BeFree, CTD_human 4286 MITF microphthalmia-associated transcription factor umls:C0007134 Carcinoma, Renal Cell 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 4323 MMP14 matrix metallopeptidase 14 (membrane-inserted) umls:C0014859 Esophageal Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0029172 Oral Submucous Fibrosis 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 4489 MT1A metallothionein 1A umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 5 Biomarker BeFree, CTD_human 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.210850513710281 4 Biomarker BeFree, CTD_human 4610 MYCL v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog umls:C0149925 Small Cell Lung Carcinoma 0.210850513710281 3 Biomarker, Therapeutic BeFree, CTD_human 4635 MYL4 myosin, light chain 4, alkali; atrial, embryonic umls:C0007194 Cardiomyopathy, Hypertrophic 0.210850513710281 4 Biomarker BeFree, CTD_human 4668 NAGA N-acetylgalactosaminidase, alpha- umls:C0338473 Neuroaxonal Dystrophies 0.210850513710281 4 Biomarker BeFree, CTD_human 653361 NCF1 neutrophil cytosolic factor 1 umls:C0003873 Arthritis, Rheumatoid 0.210850513710281 4 Biomarker BeFree, CTD_human 4720 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) umls:C0878544 Cardiomyopathies 0.210850513710281 3 Biomarker BeFree, CTD_human 4808 NHLH2 nescient helix loop helix 2 umls:C0028754 Obesity 0.210850513710281 4 Biomarker BeFree, CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0011581 Depressive Disorder 0.210850513710281 4 Biomarker BeFree, CTD_human 4851 NOTCH1 notch 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210850513710281 4 Biomarker BeFree, CTD_human 4853 NOTCH2 notch 2 umls:C0017636 Glioblastoma 0.210850513710281 4 Biomarker BeFree, CTD_human 4854 NOTCH3 notch 3 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210850513710281 4 Biomarker BeFree, CTD_human 4868 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) umls:C3501848 Nephrosis, congenital 0.210850513710281 5 Biomarker BeFree, CTD_human 4852 NPY neuropeptide Y umls:C0014556 Epilepsy, Temporal Lobe 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 9971 NR1H4 nuclear receptor subfamily 1, group H, member 4 umls:C0023903 Liver Neoplasms 0.210850513710281 6 Biomarker BeFree, CTD_human 7025 NR2F1 nuclear receptor subfamily 2, group F, member 1 umls:C1458155 Breast Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0024299 Lymphoma 0.210850513710281 4 Biomarker BeFree, CTD_human 100506658 OCLN occludin umls:C1458155 Breast Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 4953 ODC1 ornithine decarboxylase 1 umls:C0009375 Colonic Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 8481 OFD1 oral-facial-digital syndrome 1 umls:C1846175 Simpson-Golabi-Behmel Syndrome, Type 2 0.210850513710281 3 Biomarker BeFree, CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0027796 Neuralgia 0.210850513710281 5 Biomarker BeFree, CTD_human 4998 ORC1 origin recognition complex, subunit 1 umls:C0013336 Dwarfism 0.210850513710281 4 Biomarker BeFree, CTD_human 286530 P2RY8 purinergic receptor P2Y, G-protein coupled, 8 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.210850513710281 3 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0004352 Autistic Disorder 0.210850513710281 4 Biomarker BeFree, CTD_human 5074 PAWR PRKC, apoptosis, WT1, regulator umls:C0033578 Prostatic Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 5111 PCNA proliferating cell nuclear antigen umls:C0206624 Hepatoblastoma 0.210850513710281 4 Biomarker BeFree, CTD_human 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0005586 Bipolar Disorder 0.210850513710281 3 Biomarker BeFree, CTD_human 5158 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta umls:C0035304 Retinal Degeneration 0.210850513710281 6 Biomarker, GeneticVariation BeFree, CTD_human 8622 PDE8B phosphodiesterase 8B umls:C0001627 Adrenal Hyperplasia, Congenital 0.210850513710281 4 Biomarker BeFree, CTD_human 5160 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 umls:C0001125 Acidosis, Lactic 0.210850513710281 4 Biomarker BeFree, CTD_human 5037 PEBP1 phosphatidylethanolamine binding protein 1 umls:C0007097 Carcinoma 0.210850513710281 4 Biomarker BeFree, CTD_human 5193 PEX12 peroxisomal biogenesis factor 12 umls:C1832200 Peroxisome biogenesis disorders 0.210850513710281 3 Biomarker BeFree, CTD_human 5828 PEX2 peroxisomal biogenesis factor 2 umls:C0282527 Refsum Disease, Infantile 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 5230 PGK1 phosphoglycerate kinase 1 umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 4 Biomarker BeFree, CTD_human 26227 PHGDH phosphoglycerate dehydrogenase umls:C0025202 Melanoma 0.210850513710281 3 Biomarker BeFree, CTD_human 7262 PHLDA2 pleckstrin homology-like domain, family A, member 2 umls:C0029463 Osteosarcoma 0.210850513710281 3 Biomarker, Therapeutic BeFree, CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0279628 Adenocarcinoma Of Esophagus 0.210850513710281 3 Biomarker BeFree, CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0152013 Adenocarcinoma of lung 0.210850513710281 3 Biomarker BeFree, CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C1261473 Sarcoma 0.210850513710281 4 Biomarker BeFree, CTD_human 5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma umls:C0018801 Heart Failure 0.210850513710281 4 Biomarker BeFree, CTD_human 11040 PIM2 Pim-2 proto-oncogene, serine/threonine kinase umls:C0023467 Leukemia, Myeloid, Acute 0.210850513710281 4 Biomarker BeFree, CTD_human 65018 PINK1 PTEN induced putative kinase 1 umls:C0027819 Neuroblastoma 0.210850513710281 4 Biomarker BeFree, CTD_human 151056 PLB1 phospholipase B1 umls:C0003873 Arthritis, Rheumatoid 0.210850513710281 3 Biomarker BeFree, CTD_human 5347 PLK1 polo-like kinase 1 umls:C0017638 Glioma 0.210850513710281 3 Biomarker BeFree, CTD_human 5366 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.210850513710281 4 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0011581 Depressive Disorder 0.210850513710281 4 Biomarker BeFree, CTD_human 5444 PON1 paraoxonase 1 umls:C0021364 Infertility, Male 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 5449 POU1F1 POU class 1 homeobox 1 umls:C0013338 Dwarfism, Pituitary 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0023903 Liver Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 5478 PPIA peptidylprolyl isomerase A (cyclophilin A) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210850513710281 4 Biomarker BeFree, CTD_human 5478 PPIA peptidylprolyl isomerase A (cyclophilin A) umls:C0027627 Neoplasm Metastasis 0.210850513710281 4 Biomarker BeFree, CTD_human 8493 PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D umls:C0017638 Glioma 0.210850513710281 3 Biomarker BeFree, CTD_human 5537 PPP6C protein phosphatase 6, catalytic subunit umls:C0025202 Melanoma 0.210850513710281 4 Biomarker BeFree, CTD_human 8575 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator umls:C0242422 Parkinsonian Disorders 0.210850513710281 3 Biomarker BeFree, CTD_human 5629 PROX1 prospero homeobox 1 umls:C0027627 Neoplasm Metastasis 0.210850513710281 4 Biomarker BeFree, CTD_human 112476 PRRT2 proline-rich transmembrane protein 2 umls:C3714756 Intellectual Disability 0.210850513710281 4 Biomarker BeFree, CTD_human 646960 PRSS56 protease, serine, 56 umls:C0026010 Microphthalmos 0.210850513710281 3 Biomarker BeFree, CTD_human 5663 PSEN1 presenilin 1 umls:C0007193 Cardiomyopathy, Dilated 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0282612 Prostatic Intraepithelial Neoplasia 0.210850513710281 5 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0007099 Carcinoma in Situ 0.210850513710281 5 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0011581 Depressive Disorder 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0021846 Intestinal Polyps 0.210850513710281 6 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0024141 Lupus Erythematosus, Systemic 0.210850513710281 4 Biomarker BeFree, CTD_human 5771 PTPN2 protein tyrosine phosphatase, non-receptor type 2 umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.210850513710281 3 Biomarker BeFree, CTD_human 5816 PVALB parvalbumin umls:C0005586 Bipolar Disorder 0.210850513710281 4 Biomarker BeFree, CTD_human 5697 PYY peptide YY umls:C0003123 Anorexia 0.210850513710281 4 Biomarker BeFree, CTD_human 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0024121 Lung Neoplasms 0.210850513710281 4 Biomarker BeFree, CTD_human 10743 RAI1 retinoic acid induced 1 umls:C0028754 Obesity 0.210850513710281 4 Biomarker BeFree, CTD_human 10125 RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) umls:C0023467 Leukemia, Myeloid, Acute 0.210850513710281 3 Biomarker BeFree, CTD_human 1827 RCAN1 regulator of calcineurin 1 umls:C0018798 Heart Defects, Congenital 0.210850513710281 4 Biomarker BeFree, CTD_human 5972 REN renin umls:C0004775 Bartter Syndrome 0.210850513710281 6 Biomarker BeFree, CTD_human 387 RHOA ras homolog family member A umls:C0079774 Lymphoma, T-Cell, Peripheral 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 54719 RNANC Retinal nonattachment, nonsyndromic congenital umls:C1857299 Retinal Nonattachment, Nonsyndromic Congenital 0.210850513710281 3 Biomarker BeFree, CTD_human 6098 ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase umls:C0152013 Adenocarcinoma of lung 0.210850513710281 4 Biomarker BeFree, CTD_human 57096 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 umls:C0854723 Retinal Dystrophies 0.210850513710281 4 Biomarker BeFree, CTD_human 6197 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 umls:C0027627 Neoplasm Metastasis 0.210850513710281 4 Biomarker BeFree, CTD_human 6241 RRM2 ribonucleotide reductase M2 umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 4 Biomarker BeFree, CTD_human 6303 SAT1 spermidine/spermine N1-acetyltransferase 1 umls:C0343057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 0.210850513710281 3 Biomarker BeFree, CTD_human 6336 SCN10A sodium channel, voltage gated, type X alpha subunit umls:C1142166 Brugada Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C0004134 Ataxia 0.210850513710281 4 Biomarker BeFree, CTD_human 100329170 SCZD13 schizophrenia 13 umls:C0036341 Schizophrenia 0.210850513710281 3 Biomarker BeFree, CTD_human 9869 SETDB1 SET domain, bifurcated 1 umls:C0025202 Melanoma 0.210850513710281 3 Biomarker BeFree, CTD_human 2810 SFN stratifin umls:C2239176 Carcinoma, Hepatocellular 0.210850513710281 4 Biomarker BeFree, CTD_human 653509 SFTPA1 surfactant protein A1 umls:C1800706 Idiopathic Pulmonary Fibrosis 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 22941 SHANK2 SH3 and multiple ankyrin repeat domains 2 umls:C3714756 Intellectual Disability 0.210850513710281 4 Biomarker BeFree, CTD_human 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C0751072 Frontotemporal Lobar Degeneration 0.210850513710281 4 Biomarker BeFree, CTD_human 9990 SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 umls:C0031117 Peripheral Nervous System Diseases 0.210850513710281 5 Biomarker BeFree, CTD_human 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C0014544 Epilepsy 0.210850513710281 4 Biomarker BeFree, CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0004134 Ataxia 0.210850513710281 4 Biomarker BeFree, CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0025958 Microcephaly 0.210850513710281 5 Biomarker BeFree, CTD_human 8671 SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 umls:C0086543 Cataract 0.210850513710281 4 Biomarker BeFree, CTD_human 4088 SMAD3 SMAD family member 3 umls:C0023267 Leiomyoma 0.210850513710281 3 Biomarker BeFree, CTD_human 9021 SOCS3 suppressor of cytokine signaling 3 umls:C0004153 Atherosclerosis 0.210850513710281 4 Biomarker BeFree, CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0027765 Nervous System Diseases 0.210850513710281 4 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0007193 Cardiomyopathy, Dilated 0.210850513710281 5 Biomarker, GeneticVariation BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0022658 Kidney Diseases 0.210850513710281 5 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0029408 Osteoarthritis 0.210850513710281 5 Biomarker BeFree, CTD_human 6663 SOX10 SRY (sex determining region Y)-box 10 umls:C1866425 Yemenite deaf-blind hypopigmentation syndrome 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 6710 SPTB spectrin, beta, erythrocytic umls:C0013902 Elliptocytosis, Hereditary 0.210850513710281 4 Biomarker BeFree, CTD_human 27286 SRPX2 sushi-repeat containing protein, X-linked 2 umls:C1845668 Perisylvian syndrome 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 6750 SST somatostatin umls:C0030297 Pancreatic Neoplasms 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 6755 SSTR5 somatostatin receptor 5 umls:C0346302 Growth Hormone-Secreting Pituitary Adenoma 0.210850513710281 3 Biomarker BeFree, CTD_human 6776 STAT5A signal transducer and activator of transcription 5A umls:C0007097 Carcinoma 0.210850513710281 6 Biomarker BeFree, CTD_human 6895 TARBP2 TAR (HIV-1) RNA binding protein 2 umls:C0007097 Carcinoma 0.210850513710281 4 Biomarker BeFree, CTD_human 6899 TBX1 T-box 1 umls:C0376634 Craniofacial Abnormalities 0.210850513710281 5 Biomarker, GeneticVariation BeFree, CTD_human 6929 TCF3 transcription factor 3 umls:C0006413 Burkitt Lymphoma 0.210850513710281 5 Biomarker BeFree, CTD_human 7015 TERT telomerase reverse transcriptase umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.210850513710281 4 Biomarker BeFree, CTD_human 54790 TET2 tet methylcytosine dioxygenase 2 umls:C0020981 Immunoblastic Lymphadenopathy 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0013264 Muscular Dystrophy, Duchenne 0.210850513710281 4 Biomarker BeFree, CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0521607 Peritoneal Fibrosis 0.210850513710281 4 Biomarker BeFree, CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C2697932 Loeys-Dietz Syndrome 0.210850513710281 3 Biomarker BeFree, CTD_human 7056 THBD thrombomodulin umls:C0012739 Disseminated Intravascular Coagulation 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 114609 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein umls:C0024530 Malaria 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 7099 TLR4 toll-like receptor 4 umls:C0015695 Fatty Liver 0.210850513710281 4 Biomarker BeFree, CTD_human 7099 TLR4 toll-like receptor 4 umls:C0017661 Glomerulonephritis, IGA 0.210850513710281 4 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0020437 Hypercalcemia 0.210850513710281 4 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0023290 Leishmaniasis, Visceral 0.210850513710281 4 Biomarker BeFree, CTD_human 10318 TNIP1 TNFAIP3 interacting protein 1 umls:C0036421 Scleroderma, Systemic 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 7153 TOP2A topoisomerase (DNA) II alpha 170kDa umls:C0023418 Leukemia 0.210850513710281 4 Biomarker BeFree, CTD_human 8626 TP63 tumor protein p63 umls:C0016508 Foot Deformities, Congenital 0.210850513710281 4 Biomarker BeFree, CTD_human 8626 TP63 tumor protein p63 umls:C0206762 Limb Deformities, Congenital 0.210850513710281 4 Biomarker BeFree, CTD_human 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0007959 Charcot-Marie-Tooth Disease 0.210850513710281 4 Biomarker BeFree, CTD_human 7249 TSC2 tuberous sclerosis 2 umls:C1854465 Tuberous Sclerosis 1 0.210850513710281 3 Biomarker BeFree, CTD_human 85480 TSLP thymic stromal lymphopoietin umls:C0341106 Eosinophilic Esophagitis 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 7273 TTN titin umls:C0340427 Familial dilated cardiomyopathy 0.210850513710281 4 Biomarker BeFree, CTD_human 10628 TXNIP thioredoxin interacting protein umls:C0011881 Diabetic Nephropathies 0.210850513710281 4 Biomarker BeFree, CTD_human 7345 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210850513710281 4 Biomarker BeFree, CTD_human 9094 UNC119 unc-119 homolog (C. elegans) umls:C0035334 Retinitis Pigmentosa 0.210850513710281 3 Biomarker BeFree, CTD_human 10083 USH1C Usher syndrome 1C (autosomal recessive, severe) umls:C2931207 Usher syndrome, type 1C 0.210850513710281 3 Biomarker BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0020541 Hypertension, Portal 0.210850513710281 4 Biomarker, Therapeutic BeFree, CTD_human 7431 VIM vimentin umls:C0086543 Cataract 0.210850513710281 3 Biomarker BeFree, CTD_human 55717 WDR11 WD repeat domain 11 umls:C0017638 Glioma 0.210850513710281 3 Biomarker BeFree, CTD_human 11152 WDR45 WD repeat domain 45 umls:C2931845 Neurodegeneration with brain iron accumulation (NBIA) 0.210850513710281 4 Biomarker BeFree, CTD_human 54904 WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 umls:C0023467 Leukemia, Myeloid, Acute 0.210850513710281 3 Biomarker, GeneticVariation BeFree, CTD_human 7504 XK X-linked Kx blood group umls:C0393576 Neuroacanthocytosis 0.210850513710281 4 Biomarker, GeneticVariation BeFree, CTD_human 7538 ZFP36 ZFP36 ring finger protein umls:C0006625 Cachexia 0.210850513710281 5 Biomarker BeFree, CTD_human 2322 FLT3 fms-related tyrosine kinase 3 umls:C0023449 ACUTE LYMPHOCYTIC LEUKEMIA 0.210773173663559 38 Biomarker, GeneticVariation BeFree, CLINVAR 11128 POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa umls:C2676243 Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 0.210567009140187 6 Biomarker, GeneticVariation BeFree, UNIPROT 7306 TYRP1 tyrosinase-related protein 1 umls:C0342683 Rufous oculocutaneous albinism 0.210567009140187 3 Biomarker, GeneticVariation BeFree, UNIPROT 7072 TIA1 TIA1 cytotoxic granule-associated RNA binding protein umls:C0221054 WELANDER DISTAL MYOPATHY 0.210567009140187 2 Biomarker, GeneticVariation BeFree, UNIPROT 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C1140680 Malignant neoplasm of ovary 0.210567009140187 2 Biomarker, GeneticVariation BeFree, UNIPROT 7535 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa umls:C2931299 ZAP70 deficiency 0.210567009140187 6 Biomarker, GeneticVariation BeFree, UNIPROT 6821 SUOX sulfite oxidase umls:C2931746 SULFOCYSTEINURIA 0.210567009140187 6 Biomarker, GeneticVariation BeFree, UNIPROT 6786 STIM1 stromal interaction molecule 1 umls:C1861451 Stormorken Syndrome 0.210567009140187 2 Biomarker, GeneticVariation BeFree, UNIPROT 493753 COA5 cytochrome c oxidase assembly factor 5 umls:C0268237 Cytochrome-c Oxidase Deficiency 0.210567009140187 2 Biomarker, GeneticVariation BeFree, UNIPROT 843 CASP10 caspase 10, apoptosis-related cysteine peptidase umls:C0699791 STOMACH CARCINOMA 0.210567009140187 2 Biomarker, GeneticVariation BeFree, UNIPROT 51715 RAB23 RAB23, member RAS oncogene family umls:C0796281 CARPENTER SYNDROME 1 0.210567009140187 3 Biomarker, GeneticVariation BeFree, UNIPROT 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0018798 Heart Defects, Congenital 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 22 ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 umls:C0002896 Anemia, Sideroblastic 0.210567009140187 4 Biomarker, GeneticVariation BeFree, CTD_human 22 ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 umls:C0004134 Ataxia 0.210567009140187 3 Biomarker BeFree, CTD_human 1636 ACE angiotensin I converting enzyme umls:C0021364 Infertility, Male 0.210567009140187 3 Biomarker BeFree, CTD_human 1636 ACE angiotensin I converting enzyme umls:C0027627 Neoplasm Metastasis 0.210567009140187 2 Biomarker BeFree, CTD_human 2182 ACSL4 acyl-CoA synthetase long-chain family member 4 umls:C0011581 Depressive Disorder 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 780896 ACTD Acetabular dysplasia umls:C1306065 DEVELOPMENTAL DYSPLASIA OF THE HIP 1 0.210567009140187 2 Biomarker BeFree, CTD_human 72 ACTG2 actin, gamma 2, smooth muscle, enteric umls:C1608393 Megacystis microcolon intestinal hypoperistalsis syndrome 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 284382 ACTL9 actin-like 9 umls:C0011615 Dermatitis, Atopic 0.210567009140187 2 Biomarker BeFree, CTD_human 9510 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 umls:C1458155 Breast Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 9510 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210567009140187 2 Biomarker BeFree, CTD_human 450087 ADHD1 Attention deficit-hyperactivity disorder, susceptibility to, 1 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.210567009140187 2 Biomarker BeFree, CTD_human 84830 ADTRP androgen-dependent TFPI-regulating protein umls:C1956346 Coronary Artery Disease 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 196 AHR aryl hydrocarbon receptor umls:C0004153 Atherosclerosis 0.210567009140187 3 Biomarker BeFree, CTD_human 1109 AKR1C4 aldo-keto reductase family 1, member C4 umls:C0005586 Bipolar Disorder 0.210567009140187 2 Biomarker BeFree, CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0037286 Skin Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0017658 Glomerulonephritis 0.210567009140187 10 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0017665 Glomerulonephritis, Membranous 0.210567009140187 7 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0162557 Liver Failure, Acute 0.210567009140187 4 Biomarker, Therapeutic BeFree, CTD_human 216 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 umls:C0007134 Carcinoma, Renal Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0278601 Inflammatory Breast Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0001430 Adenoma 0.210567009140187 3 Biomarker BeFree, CTD_human 301 ANXA1 annexin A1 umls:C0152013 Adenocarcinoma of lung 0.210567009140187 3 Biomarker BeFree, CTD_human 301 ANXA1 annexin A1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 302 ANXA2 annexin A2 umls:C0023467 Leukemia, Myeloid, Acute 0.210567009140187 3 Biomarker BeFree, CTD_human 324 APC adenomatous polyposis coli umls:C0017185 Gastrointestinal Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 348 APOE apolipoprotein E umls:C0009241 Cognition Disorders 0.210567009140187 3 Biomarker BeFree, CTD_human 353 APRT adenine phosphoribosyltransferase umls:C0007134 Carcinoma, Renal Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 360 AQP3 aquaporin 3 (Gill blood group) umls:C0007137 Carcinoma, Squamous Cell 0.210567009140187 2 Biomarker BeFree, CTD_human 23229 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 umls:C1136249 Mental Retardation, X-Linked 0.210567009140187 3 Biomarker BeFree, CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0279628 Adenocarcinoma Of Esophagus 0.210567009140187 2 Biomarker BeFree, CTD_human 57492 ARID1B AT rich interactive domain 1B (SWI1-like) umls:C0265338 Coffin-Siris syndrome 0.210567009140187 3 Biomarker BeFree, CTD_human 84159 ARID5B AT rich interactive domain 5B (MRF1-like) umls:C0018213 Graves Disease 0.210567009140187 2 Biomarker BeFree, CTD_human 467 ATF3 activating transcription factor 3 umls:C0011860 Diabetes Mellitus, Type 2 0.210567009140187 3 Biomarker BeFree, CTD_human 489 ATP2A3 ATPase, Ca++ transporting, ubiquitous umls:C0001430 Adenoma 0.210567009140187 3 Biomarker BeFree, CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0027819 Neuroblastoma 0.210567009140187 3 Biomarker BeFree, CTD_human 551 AVP arginine vasopressin umls:C0036341 Schizophrenia 0.210567009140187 3 Biomarker BeFree, CTD_human 567 B2M beta-2-microglobulin umls:C0022658 Kidney Diseases 0.210567009140187 5 Biomarker BeFree, CTD_human 567 B2M beta-2-microglobulin umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.210567009140187 3 Biomarker BeFree, CTD_human 10678 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 umls:C0018213 Graves Disease 0.210567009140187 2 Biomarker BeFree, CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0011860 Diabetes Mellitus, Type 2 0.210567009140187 3 Biomarker BeFree, CTD_human 598 BCL2L1 BCL2-like 1 umls:C0001430 Adenoma 0.210567009140187 3 Biomarker BeFree, CTD_human 604 BCL6 B-cell CLL/lymphoma 6 umls:C0079772 Lymphoma, T-Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0007786 Brain Ischemia 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 8678 BECN1 beclin 1, autophagy related umls:C0752347 Lewy Body Disease 0.210567009140187 3 Biomarker BeFree, CTD_human 640 BLK BLK proto-oncogene, Src family tyrosine kinase umls:C0026691 Mucocutaneous Lymph Node Syndrome 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 650 BMP2 bone morphogenetic protein 2 umls:C0027092 Myopia 0.210567009140187 3 Biomarker BeFree, CTD_human 659 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) umls:C0034091 Pulmonary Veno-Occlusive Disease 0.210567009140187 2 Biomarker BeFree, CTD_human 664 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 umls:C0026764 Multiple Myeloma 0.210567009140187 2 Biomarker BeFree, CTD_human 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0206686 Adrenocortical Carcinoma 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0206754 Neuroendocrine Tumors 0.210567009140187 3 Biomarker BeFree, CTD_human 718 C3 complement component 3 umls:C2931788 Atypical Hemolytic Uremic Syndrome 0.210567009140187 2 Biomarker BeFree, CTD_human 718 C3 complement component 3 umls:C0011860 Diabetes Mellitus, Type 2 0.210567009140187 3 Biomarker BeFree, CTD_human 205428 C3orf58 chromosome 3 open reading frame 58 umls:C0004352 Autistic Disorder 0.210567009140187 3 Biomarker BeFree, CTD_human 760 CA2 carbonic anhydrase II umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 3 Biomarker BeFree, CTD_human 768 CA9 carbonic anhydrase IX umls:C1176475 Carcinoma, Ductal 0.210567009140187 3 Biomarker BeFree, CTD_human 768 CA9 carbonic anhydrase IX umls:C0007124 Carcinoma, Intraductal, Noninfiltrating 0.210567009140187 2 Biomarker BeFree, CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0020542 Hypertension, Pulmonary 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 811 CALR calreticulin umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C0220769 Opitz-Kaveggia syndrome 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C1862939 Amyotrophic lateral sclerosis 1 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0032285 Pneumonia 0.210567009140187 3 Biomarker BeFree, CTD_human 847 CAT catalase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210567009140187 3 Biomarker BeFree, CTD_human 847 CAT catalase umls:C0878544 Cardiomyopathies 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0271694 Lipodystrophy, Familial Partial 0.210567009140187 3 Biomarker BeFree, CTD_human 873 CBR1 carbonyl reductase 1 umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 2 Biomarker BeFree, CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0032285 Pneumonia 0.210567009140187 3 Biomarker BeFree, CTD_human 6369 CCL24 chemokine (C-C motif) ligand 24 umls:C0032285 Pneumonia 0.210567009140187 3 Biomarker BeFree, CTD_human 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0004153 Atherosclerosis 0.210567009140187 3 Biomarker BeFree, CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0004153 Atherosclerosis 0.210567009140187 3 Biomarker BeFree, CTD_human 6352 CCL5 chemokine (C-C motif) ligand 5 umls:C0017658 Glomerulonephritis 0.210567009140187 3 Biomarker BeFree, CTD_human 80381 CD276 CD276 molecule umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 2 Biomarker, Therapeutic BeFree, CTD_human 916 CD3E CD3e molecule, epsilon (CD3-TCR complex) umls:C0085110 Severe Combined Immunodeficiency 0.210567009140187 3 Biomarker BeFree, CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C0037274 Skin Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 969 CD69 CD69 molecule umls:C0003864 Arthritis 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 972 CD74 CD74 molecule, major histocompatibility complex, class II invariant chain umls:C1458155 Breast Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 990 CDC6 cell division cycle 6 umls:C1868684 Meier-Gorlin syndrome 0.210567009140187 3 Biomarker BeFree, CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0032927 Precancerous Conditions 0.210567009140187 3 Biomarker BeFree, CTD_human 983 CDK1 cyclin-dependent kinase 1 umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.210567009140187 2 Biomarker BeFree, CTD_human 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0021841 Intestinal Neoplasms 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0022783 Vulvar Lichen Sclerosus 0.210567009140187 3 Biomarker BeFree, CTD_human 1030 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) umls:C0017601 Glaucoma 0.210567009140187 2 Biomarker BeFree, CTD_human 634 CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) umls:C0001418 Adenocarcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 51510 CHMP5 charged multivesicular body protein 5 umls:C0023467 Leukemia, Myeloid, Acute 0.210567009140187 3 Biomarker BeFree, CTD_human 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C0027765 Nervous System Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0036572 Seizures 0.210567009140187 7 Biomarker BeFree, CTD_human 25792 CIZ1 CDKN1A interacting zinc finger protein 1 umls:C0013421 Dystonia 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 1181 CLCN2 chloride channel, voltage-sensitive 2 umls:C0270853 Myoclonic Epilepsy, Juvenile 0.210567009140187 2 Biomarker BeFree, CTD_human 1184 CLCN5 chloride channel, voltage-sensitive 5 umls:C3536983 Familial Hypophosphatemic Rickets 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 1364 CLDN4 claudin 4 umls:C1458155 Breast Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 23601 CLEC5A C-type lectin domain family 5, member A umls:C0019100 Severe Dengue 0.210567009140187 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 54982 CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant umls:C0751778 Myoclonic Epilepsies, Progressive 0.210567009140187 3 Biomarker BeFree, CTD_human 1218 CMD1B cardiomyopathy, dilated 1B (autosomal dominant) umls:C0340427 Familial dilated cardiomyopathy 0.210567009140187 2 Biomarker BeFree, CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0020179 Huntington Disease 0.210567009140187 3 Biomarker BeFree, CTD_human 1270 CNTF ciliary neurotrophic factor umls:C1862939 Amyotrophic lateral sclerosis 1 0.210567009140187 2 Biomarker BeFree, CTD_human 1312 COMT catechol-O-methyltransferase umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 2 Biomarker BeFree, CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0035304 Retinal Degeneration 0.210567009140187 3 Biomarker BeFree, CTD_human 23418 CRB1 crumbs family member 1, photoreceptor morphogenesis associated umls:C0154832 Retinal Telangiectasis 0.210567009140187 3 Biomarker BeFree, CTD_human 1385 CREB1 cAMP responsive element binding protein 1 umls:C1266127 Histiocytoma, Angiomatoid Fibrous 0.210567009140187 2 Biomarker BeFree, CTD_human 1415 CRYBB2 crystallin, beta B2 umls:C0344523 Cerulean cataract 0.210567009140187 2 Biomarker BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0001824 Agranulocytosis 0.210567009140187 4 Biomarker BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0242596 Neoplasm, Residual 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0023903 Liver Neoplasms 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0026764 Multiple Myeloma 0.210567009140187 4 Biomarker, Therapeutic BeFree, CTD_human 1490 CTGF connective tissue growth factor umls:C0524909 Hepatitis B, Chronic 0.210567009140187 3 Biomarker BeFree, CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0206669 Adenoma, Liver Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0206686 Adrenocortical Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0021841 Intestinal Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0919267 Ovarian Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 1501 CTNND2 catenin (cadherin-associated protein), delta 2 umls:C0010314 Cri-du-Chat Syndrome 0.210567009140187 2 Biomarker BeFree, CTD_human 1508 CTSB cathepsin B umls:C0007134 Carcinoma, Renal Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0011615 Dermatitis, Atopic 0.210567009140187 3 Biomarker BeFree, CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0029408 Osteoarthritis 0.210567009140187 2 Biomarker BeFree, CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0919267 Ovarian Neoplasms 0.210567009140187 4 Biomarker BeFree, CTD_human 2833 CXCR3 chemokine (C-X-C motif) receptor 3 umls:C0004364 Autoimmune Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 1576 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 umls:C0019196 Hepatitis C 0.210567009140187 3 Biomarker BeFree, CTD_human 10800 CYSLTR1 cysteinyl leukotriene receptor 1 umls:C1319853 Asthma, Aspirin-Induced 0.210567009140187 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CTD_human 57105 CYSLTR2 cysteinyl leukotriene receptor 2 umls:C1319853 Asthma, Aspirin-Induced 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 1600 DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) umls:C0004352 Autistic Disorder 0.210567009140187 2 Biomarker BeFree, CTD_human 114086 DBA2 Diamond-Blackfan anemia 2 umls:C1260899 Anemia, Diamond-Blackfan 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 1644 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) umls:C0031511 Pheochromocytoma 0.210567009140187 3 Biomarker BeFree, CTD_human 1674 DES desmin umls:C0007097 Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 8526 DGKE diacylglycerol kinase, epsilon 64kDa umls:C2931788 Atypical Hemolytic Uremic Syndrome 0.210567009140187 3 Biomarker BeFree, CTD_human 1719 DHFR dihydrofolate reductase umls:C0027627 Neoplasm Metastasis 0.210567009140187 2 Biomarker BeFree, CTD_human 1776 DNASE1L3 deoxyribonuclease I-like 3 umls:C0024141 Lupus Erythematosus, Systemic 0.210567009140187 2 Biomarker BeFree, CTD_human 1788 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha umls:C0020981 Immunoblastic Lymphadenopathy 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 1804 DPP6 dipeptidyl-peptidase 6 umls:C0340493 Paroxysmal ventricular fibrillation 0.210567009140187 2 Biomarker BeFree, CTD_human 1808 DPYSL2 dihydropyrimidinase-like 2 umls:C0036349 Schizophrenia, Paranoid 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 1814 DRD3 dopamine receptor D3 umls:C0026650 Movement Disorders 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 1816 DRD5 dopamine receptor D5 umls:C2930898 Benign essential blepharospasm 0.210567009140187 2 Biomarker BeFree, CTD_human 1845 DUSP3 dual specificity phosphatase 3 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210567009140187 3 Biomarker BeFree, CTD_human 100379198 ECT centralopathic epilepsy umls:C0376532 Epilepsy, Rolandic 0.210567009140187 2 Biomarker BeFree, CTD_human 1906 EDN1 endothelin 1 umls:C0151744 Myocardial Ischemia 0.210567009140187 5 Biomarker, GeneticVariation BeFree, CTD_human 1906 EDN1 endothelin 1 umls:C0030193 Pain 0.210567009140187 4 Biomarker, GeneticVariation BeFree, CTD_human 1947 EFNB1 ephrin-B1 umls:C0020534 Hypertelorism 0.210567009140187 3 Biomarker BeFree, CTD_human 1950 EGF epidermal growth factor umls:C0022658 Kidney Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 1958 EGR1 early growth response 1 umls:C0025500 Mesothelioma 0.210567009140187 2 Biomarker BeFree, CTD_human 30845 EHD3 EH-domain containing 3 umls:C0023467 Leukemia, Myeloid, Acute 0.210567009140187 2 Biomarker BeFree, CTD_human 1964 EIF1AX eukaryotic translation initiation factor 1A, X-linked umls:C0220633 Uveal melanoma 0.210567009140187 2 Biomarker BeFree, CTD_human 5610 EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 umls:C0021400 Influenza, Human 0.210567009140187 3 Biomarker BeFree, CTD_human 50715 EJM2 epilepsy, juvenile myoclonic 2 umls:C0270853 Myoclonic Epilepsy, Juvenile 0.210567009140187 2 Biomarker BeFree, CTD_human 100124415 EKD2 Episodic kinesigenic dyskinesia 2 umls:C1970238 Episodic Kinesigenic Dyskinesia 2 0.210567009140187 2 Biomarker BeFree, CTD_human 2006 ELN elastin umls:C0034069 Pulmonary Fibrosis 0.210567009140187 3 Biomarker BeFree, CTD_human 2018 EMX2 empty spiracles homeobox 2 umls:C2931870 Familial schizencephaly 0.210567009140187 2 Biomarker BeFree, CTD_human 2056 EPO erythropoietin umls:C0002878 Anemia, Hemolytic 0.210567009140187 5 Biomarker, Therapeutic BeFree, CTD_human 2056 EPO erythropoietin umls:C0018799 Heart Diseases 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 51752 ERAP1 endoplasmic reticulum aminopeptidase 1 umls:C0004943 Behcet Syndrome 0.210567009140187 2 Biomarker BeFree, CTD_human 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0024232 Lymphatic Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C2931822 Nasopharyngeal carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 2110 ETFDH electron-transferring-flavoprotein dehydrogenase umls:C0025517 Metabolic Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 2147 F2 coagulation factor II (thrombin) umls:C0085605 Liver Failure 0.210567009140187 3 Biomarker BeFree, CTD_human 2194 FASN fatty acid synthase umls:C0023827 Liposarcoma 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 10516 FBLN5 fibulin 5 umls:C2931134 Cutis laxa, recessive 0.210567009140187 3 Biomarker BeFree, CTD_human 2203 FBP1 fructose-1,6-bisphosphatase 1 umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 2 Biomarker BeFree, CTD_human 2208 FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) umls:C0019693 HIV Infections 0.210567009140187 2 Biomarker BeFree, CTD_human 2253 FGF8 fibroblast growth factor 8 (androgen-induced) umls:C0376634 Craniofacial Abnormalities 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0149925 Small Cell Lung Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0376634 Craniofacial Abnormalities 0.210567009140187 5 AlteredExpression, Biomarker BeFree, CTD_human 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0007873 Uterine Cervical Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 2272 FHIT fragile histidine triad umls:C0023903 Liver Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 201163 FLCN folliculin umls:C0018552 Hamartoma 0.210567009140187 3 Biomarker BeFree, CTD_human 2316 FLNA filamin A, alpha umls:C0014544 Epilepsy 0.210567009140187 2 Biomarker BeFree, CTD_human 2332 FMR1 fragile X mental retardation 1 umls:C0009241 Cognition Disorders 0.210567009140187 3 Biomarker BeFree, CTD_human 2335 FN1 fibronectin 1 umls:C0020538 Hypertension 0.210567009140187 4 Biomarker BeFree, CTD_human 64778 FNDC3B fibronectin type III domain containing 3B umls:C0339573 Glaucoma, Primary Open Angle 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 64778 FNDC3B fibronectin type III domain containing 3B umls:C0022578 Keratoconus 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0919267 Ovarian Neoplasms 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 3170 FOXA2 forkhead box A2 umls:C0024115 Lung Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 2296 FOXC1 forkhead box C1 umls:C0010964 Dandy-Walker Syndrome 0.210567009140187 2 Biomarker BeFree, CTD_human 2308 FOXO1 forkhead box O1 umls:C0022578 Keratoconus 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 93986 FOXP2 forkhead box P2 umls:C0003635 Apraxias 0.210567009140187 3 Biomarker BeFree, CTD_human 10468 FST follistatin umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 3 Biomarker BeFree, CTD_human 10468 FST follistatin umls:C0023903 Liver Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 79068 FTO fat mass and obesity associated umls:C0025202 Melanoma 0.210567009140187 2 Biomarker BeFree, CTD_human 2548 GAA glucosidase, alpha; acid umls:C0149721 Hypertrophy, Left Ventricular 0.210567009140187 3 Biomarker BeFree, CTD_human 2550 GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 umls:C0001973 Alcoholism 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase umls:C0007137 Carcinoma, Squamous Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 54433 GAR1 GAR1 ribonucleoprotein umls:C0265965 Dyskeratosis Congenita 0.210567009140187 3 Biomarker BeFree, CTD_human 2520 GAST gastrin umls:C0030920 Peptic Ulcer 0.210567009140187 3 Biomarker BeFree, CTD_human 2625 GATA3 GATA binding protein 3 umls:C0003873 Arthritis, Rheumatoid 0.210567009140187 3 Biomarker BeFree, CTD_human 9518 GDF15 growth differentiation factor 15 umls:C0018801 Heart Failure 0.210567009140187 3 Biomarker BeFree, CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0030567 Parkinson Disease 0.210567009140187 4 Biomarker, Therapeutic BeFree, CTD_human 79017 GGCT gamma-glutamylcyclotransferase umls:C0017661 Glomerulonephritis, IGA 0.210567009140187 3 Biomarker BeFree, CTD_human 2677 GGCX gamma-glutamyl carboxylase umls:C0005779 Blood Coagulation Disorders 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0018801 Heart Failure 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 2701 GJA4 gap junction protein, alpha 4, 37kDa umls:C0018923 Hemangiosarcoma 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 56287 GKN1 gastrokine 1 umls:C0038356 Stomach Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 2735 GLI1 GLI family zinc finger 1 umls:C0005695 Urinary Bladder Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 2736 GLI2 GLI family zinc finger 2 umls:C0037286 Skin Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 2737 GLI3 GLI family zinc finger 3 umls:C0342418 Hypothalamic hamartomas 0.210567009140187 2 Biomarker BeFree, CTD_human 51218 GLRX5 glutaredoxin 5 umls:C0002896 Anemia, Sideroblastic 0.210567009140187 3 Biomarker BeFree, CTD_human 2778 GNAS GNAS complex locus umls:C0027819 Neuroblastoma 0.210567009140187 2 Biomarker BeFree, CTD_human 27232 GNMT glycine N-methyltransferase umls:C0019189 Hepatitis, Chronic 0.210567009140187 2 Biomarker BeFree, CTD_human 92344 GORAB golgin, RAB6-interacting umls:C0029456 Osteoporosis 0.210567009140187 2 Biomarker BeFree, CTD_human 2719 GPC3 glypican 3 umls:C0025500 Mesothelioma 0.210567009140187 3 Biomarker BeFree, CTD_human 9687 GREB1 growth regulation by estrogen in breast cancer 1 umls:C0014175 Endometriosis 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 2897 GRIK1 glutamate receptor, ionotropic, kainate 1 umls:C0036572 Seizures 0.210567009140187 3 Biomarker BeFree, CTD_human 2902 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 umls:C0033975 Psychotic Disorders 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0025202 Melanoma 0.210567009140187 2 Biomarker BeFree, CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0004352 Autistic Disorder 0.210567009140187 3 Biomarker BeFree, CTD_human 2952 GSTT1 glutathione S-transferase theta 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210567009140187 3 Biomarker BeFree, CTD_human 2984 GUCY2C guanylate cyclase 2C umls:C0011991 Diarrhea 0.210567009140187 3 Biomarker BeFree, CTD_human 2992 GYG1 glycogenin 1 umls:C0017919 Glycogen Storage Disease 0.210567009140187 3 Biomarker BeFree, CTD_human 3020 H3F3A H3 histone, family 3A umls:C0206638 Giant Cell Tumor of Bone 0.210567009140187 2 Biomarker BeFree, CTD_human 3021 H3F3B H3 histone, family 3B (H3.3B) umls:C0008441 Chondroblastoma 0.210567009140187 2 Biomarker BeFree, CTD_human 57817 HAMP hepcidin antimicrobial peptide umls:C0005411 Biliary Atresia 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 26762 HAVCR1 hepatitis A virus cellular receptor 1 umls:C0022658 Kidney Diseases 0.210567009140187 9 Biomarker BeFree, CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0032461 Polycythemia 0.210567009140187 3 Biomarker BeFree, CTD_human 3043 HBB hemoglobin, beta umls:C0032461 Polycythemia 0.210567009140187 4 Biomarker, GeneticVariation BeFree, CTD_human 1839 HBEGF heparin-binding EGF-like growth factor umls:C0520459 Enterocolitis, Necrotizing 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 3066 HDAC2 histone deacetylase 2 umls:C0007137 Carcinoma, Squamous Cell 0.210567009140187 2 Biomarker BeFree, CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0025286 Meningioma 0.210567009140187 3 Biomarker BeFree, CTD_human 3083 HGFAC HGF activator umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 3 Biomarker BeFree, CTD_human 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C1319853 Asthma, Aspirin-Induced 0.210567009140187 2 Biomarker BeFree, CTD_human 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0017665 Glomerulonephritis, Membranous 0.210567009140187 3 Biomarker BeFree, CTD_human 6596 HLTF helicase-like transcription factor umls:C0022665 Kidney Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0018801 Heart Failure 0.210567009140187 3 Biomarker BeFree, CTD_human 6927 HNF1A HNF1 homeobox A umls:C0007134 Carcinoma, Renal Cell 0.210567009140187 2 Biomarker BeFree, CTD_human 3240 HP haptoglobin umls:C0018995 Hemochromatosis 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 3240 HP haptoglobin umls:C0019163 Hepatitis B 0.210567009140187 3 Biomarker BeFree, CTD_human 27306 HPGDS hematopoietic prostaglandin D synthase umls:C1336708 Testicular Germ Cell Tumor 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0206669 Adenoma, Liver Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 3290 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 umls:C0311277 Obesity, Abdominal 0.210567009140187 3 Biomarker BeFree, CTD_human 3295 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 umls:C0282528 Peroxisomal Disorders 0.210567009140187 4 Biomarker BeFree, CTD_human 3320 HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 umls:C0206180 Lymphoma, Large-Cell, Anaplastic 0.210567009140187 3 Biomarker BeFree, CTD_human 3304 HSPA1B heat shock 70kDa protein 1B umls:C0004153 Atherosclerosis 0.210567009140187 2 Biomarker BeFree, CTD_human 3313 HSPA9 heat shock 70kDa protein 9 (mortalin) umls:C0019693 HIV Infections 0.210567009140187 3 Biomarker BeFree, CTD_human 126393 HSPB6 heat shock protein, alpha-crystallin-related, B6 umls:C0018799 Heart Diseases 0.210567009140187 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C0948089 Acute Coronary Syndrome 0.210567009140187 3 Biomarker BeFree, CTD_human 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C0001418 Adenocarcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 3357 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled umls:C0020542 Hypertension, Pulmonary 0.210567009140187 3 Biomarker BeFree, CTD_human 3363 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled umls:C0011581 Depressive Disorder 0.210567009140187 3 Biomarker BeFree, CTD_human 54768 HYDIN HYDIN, axonemal central pair apparatus protein umls:C0020255 Hydrocephalus 0.210567009140187 3 Biomarker BeFree, CTD_human 57061 HYMAI hydatidiform mole associated and imprinted (non-protein coding) umls:C1832386 Diabetes Mellitus, Transient Neonatal, 1 0.210567009140187 2 AlteredExpression, Biomarker BeFree, CTD_human 23706 IBGC1 idiopathic basal ganglia calcification 1 umls:C0393590 Idiopathic basal ganglia calcification 1 0.210567009140187 2 Biomarker BeFree, CTD_human 3403 IDDM4 insulin-dependent diabetes mellitus 4 umls:C1838261 Diabetes Mellitus, Insulin-Dependent, 4 0.210567009140187 2 Biomarker BeFree, CTD_human 3417 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble umls:C0014084 Enchondromatosis 0.210567009140187 3 Biomarker BeFree, CTD_human 3417 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble umls:C0018916 Hemangioma 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C0014084 Enchondromatosis 0.210567009140187 3 Biomarker BeFree, CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0002871 Anemia 0.210567009140187 7 Biomarker BeFree, CTD_human 3456 IFNB1 interferon, beta 1, fibroblast umls:C1458155 Breast Neoplasms 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0162820 Dermatitis, Allergic Contact 0.210567009140187 4 Biomarker BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0241910 Hepatitis, Autoimmune 0.210567009140187 3 Biomarker BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0005695 Urinary Bladder Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0009375 Colonic Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 3486 IGFBP3 insulin-like growth factor binding protein 3 umls:C0151744 Myocardial Ischemia 0.210567009140187 3 Biomarker BeFree, CTD_human 3486 IGFBP3 insulin-like growth factor binding protein 3 umls:C0005695 Urinary Bladder Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 3586 IL10 interleukin 10 umls:C0162820 Dermatitis, Allergic Contact 0.210567009140187 3 Biomarker BeFree, CTD_human 3596 IL13 interleukin 13 umls:C0024115 Lung Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 3605 IL17A interleukin 17A umls:C0018133 Graft vs Host Disease 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 3606 IL18 interleukin 18 umls:C0017658 Glomerulonephritis 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 3552 IL1A interleukin 1, alpha umls:C0878544 Cardiomyopathies 0.210567009140187 3 Biomarker BeFree, CTD_human 3552 IL1A interleukin 1, alpha umls:C0085655 Polymyositis 0.210567009140187 3 Biomarker BeFree, CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0027121 Myositis 0.210567009140187 2 Biomarker BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0017658 Glomerulonephritis 0.210567009140187 4 Biomarker BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0242596 Neoplasm, Residual 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0005695 Urinary Bladder Neoplasms 0.210567009140187 4 Biomarker, Therapeutic BeFree, CTD_human 3562 IL3 interleukin 3 umls:C0002871 Anemia 0.210567009140187 4 Biomarker, Therapeutic BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0018681 Headache 0.210567009140187 3 Biomarker BeFree, CTD_human 3630 INS insulin umls:C0007194 Cardiomyopathy, Hypertrophic 0.210567009140187 3 Biomarker BeFree, CTD_human 3630 INS insulin umls:C0019158 Hepatitis 0.210567009140187 3 Biomarker BeFree, CTD_human 3630 INS insulin umls:C0036572 Seizures 0.210567009140187 4 Biomarker BeFree, CTD_human 8826 IQGAP1 IQ motif containing GTPase activating protein 1 umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 2 Biomarker BeFree, CTD_human 3660 IRF2 interferon regulatory factor 2 umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 2 Biomarker BeFree, CTD_human 3665 IRF7 interferon regulatory factor 7 umls:C0021400 Influenza, Human 0.210567009140187 3 Biomarker BeFree, CTD_human 8660 IRS2 insulin receptor substrate 2 umls:C0020456 Hyperglycemia 0.210567009140187 3 Biomarker BeFree, CTD_human 9636 ISG15 ISG15 ubiquitin-like modifier umls:C0021400 Influenza, Human 0.210567009140187 3 Biomarker BeFree, CTD_human 3683 ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) umls:C0023487 Leukemia, Promyelocytic, Acute 0.210567009140187 3 Biomarker BeFree, CTD_human 3687 ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) umls:C0023487 Leukemia, Promyelocytic, Acute 0.210567009140187 2 AlteredExpression, Biomarker BeFree, CTD_human 10008 KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 umls:C3714580 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 0.210567009140187 2 Biomarker BeFree, CTD_human 3764 KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8 umls:C0042510 Ventricular Fibrillation 0.210567009140187 2 Biomarker BeFree, CTD_human 51305 KCNK9 potassium channel, two pore domain subfamily K, member 9 umls:C0014553 Epilepsy, Absence 0.210567009140187 2 Biomarker BeFree, CTD_human 8242 KDM5C lysine (K)-specific demethylase 5C umls:C0004352 Autistic Disorder 0.210567009140187 2 Biomarker BeFree, CTD_human 3791 KDR kinase insert domain receptor umls:C0018923 Hemangiosarcoma 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 57670 KIAA1549 KIAA1549 umls:C0004114 Astrocytoma 0.210567009140187 3 Biomarker BeFree, CTD_human 11127 KIF3A kinesin family member 3A umls:C0004096 Asthma 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C1336708 Testicular Germ Cell Tumor 0.210567009140187 2 Biomarker BeFree, CTD_human 4254 KITLG KIT ligand umls:C0027430 Nasal Polyps 0.210567009140187 2 Biomarker BeFree, CTD_human 9365 KL klotho umls:C0022658 Kidney Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 10661 KLF1 Kruppel-like factor 1 (erythroid) umls:C0002876 Anemia, Dyserythropoietic, Congenital 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 3816 KLK1 kallikrein 1 umls:C0853897 Diabetic Cardiomyopathies 0.210567009140187 2 Biomarker, Therapeutic BeFree, CTD_human 9757 KMT2B lysine (K)-specific methyltransferase 2B umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 3 Biomarker BeFree, CTD_human 8085 KMT2D lysine (K)-specific methyltransferase 2D umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.210567009140187 2 Biomarker BeFree, CTD_human 55904 KMT2E lysine (K)-specific methyltransferase 2E umls:C0023418 Leukemia 0.210567009140187 3 Biomarker BeFree, CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0024299 Lymphoma 0.210567009140187 3 Biomarker BeFree, CTD_human 3848 KRT1 keratin 1, type II umls:C0037286 Skin Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 3861 KRT14 keratin 14, type I umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 3852 KRT5 keratin 5, type II umls:C0007097 Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 3912 LAMB1 laminin, beta 1 umls:C0004352 Autistic Disorder 0.210567009140187 2 Biomarker BeFree, CTD_human 3952 LEP leptin umls:C0036572 Seizures 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 3953 LEPR leptin receptor umls:C0085207 Diabetes, Gestational 0.210567009140187 3 Biomarker BeFree, CTD_human 3956 LGALS1 lectin, galactoside-binding, soluble, 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210567009140187 3 Biomarker BeFree, CTD_human 3963 LGALS7 lectin, galactoside-binding, soluble, 7 umls:C0007097 Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 3963 LGALS7 lectin, galactoside-binding, soluble, 7 umls:C0007137 Carcinoma, Squamous Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 3988 LIPA lipase A, lysosomal acid, cholesterol esterase umls:C2936797 Lysosomal acid lipase deficiency 0.210567009140187 2 Biomarker BeFree, CTD_human 3990 LIPC lipase, hepatic umls:C0020445 Hyperlipoproteinemia Type II 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 4018 LPA lipoprotein, Lp(a) umls:C0020443 Hypercholesterolemia 0.210567009140187 3 Biomarker BeFree, CTD_human 56925 LXN latexin umls:C0025202 Melanoma 0.210567009140187 2 Biomarker BeFree, CTD_human 54551 MAGEL2 melanoma antigen family L2 umls:C0004352 Autistic Disorder 0.210567009140187 2 Biomarker BeFree, CTD_human 5604 MAP2K1 mitogen-activated protein kinase kinase 1 umls:C0152013 Adenocarcinoma of lung 0.210567009140187 2 Biomarker BeFree, CTD_human 5609 MAP2K7 mitogen-activated protein kinase kinase 7 umls:C1458155 Breast Neoplasms 0.210567009140187 3 AlteredExpression, Biomarker BeFree, CTD_human 4217 MAP3K5 mitogen-activated protein kinase kinase kinase 5 umls:C0025202 Melanoma 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0022665 Kidney Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 4137 MAPT microtubule-associated protein tau umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.210567009140187 2 Biomarker BeFree, CTD_human 4170 MCL1 myeloid cell leukemia 1 umls:C0079773 Lymphoma, T-Cell, Cutaneous 0.210567009140187 2 Biomarker BeFree, CTD_human 4170 MCL1 myeloid cell leukemia 1 umls:C1261473 Sarcoma 0.210567009140187 2 Biomarker BeFree, CTD_human 431708 MDD1 Major depressive disorder umls:C1269683 Depressive Disorder, Major 0.210567009140187 2 Biomarker BeFree, CTD_human 4193 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase umls:C0019693 HIV Infections 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 4193 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase umls:C0032927 Precancerous Conditions 0.210567009140187 3 Biomarker BeFree, CTD_human 2122 MECOM MDS1 and EVI1 complex locus umls:C0023448 Leukemia, Lymphoid 0.210567009140187 3 Biomarker BeFree, CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0003469 Anxiety Disorders 0.210567009140187 3 Biomarker BeFree, CTD_human 4208 MEF2C myocyte enhancer factor 2C umls:C0014544 Epilepsy 0.210567009140187 3 Biomarker BeFree, CTD_human 4208 MEF2C myocyte enhancer factor 2C umls:C3714756 Intellectual Disability 0.210567009140187 3 Biomarker BeFree, CTD_human 84466 MEGF10 multiple EGF-like-domains 10 umls:C0011168 Deglutition Disorders 0.210567009140187 2 Biomarker BeFree, CTD_human 4256 MGP matrix Gla protein umls:C0007097 Carcinoma 0.210567009140187 4 Biomarker BeFree, CTD_human 4277 MICB MHC class I polypeptide-related sequence B umls:C0019100 Severe Dengue 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 406913 MIR126 microRNA 126 umls:C1458155 Breast Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 406913 MIR126 microRNA 126 umls:C0345967 Mesothelioma, Malignant 0.210567009140187 2 Biomarker BeFree, CTD_human 406920 MIR130B microRNA 130b umls:C0027627 Neoplasm Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 406957 MIR181C microRNA 181c umls:C0027627 Neoplasm Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 406979 MIR19A microRNA 19a umls:C0027627 Neoplasm Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 406986 MIR203A microRNA 203a umls:C0596263 Carcinogenesis 0.210567009140187 2 Biomarker, Therapeutic BeFree, CTD_human 406988 MIR205 microRNA 205 umls:C1458155 Breast Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 406991 MIR21 microRNA 21 umls:C0033578 Prostatic Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 407029 MIR30A microRNA 30a umls:C0027627 Neoplasm Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 442909 MIR342 microRNA 342 umls:C1458155 Breast Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 442915 MIR370 microRNA 370 umls:C0027627 Neoplasm Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 574506 MIR503 microRNA 503 umls:C0027627 Neoplasm Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 693223 MIR638 microRNA 638 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210567009140187 2 Biomarker BeFree, CTD_human 4288 MKI67 marker of proliferation Ki-67 umls:C0033860 Psoriasis 0.210567009140187 3 Biomarker BeFree, CTD_human 7681 MKRN3 makorin ring finger protein 3 umls:C0342543 Precocious Puberty, Central 0.210567009140187 2 Biomarker BeFree, CTD_human 10305 MMDK Mesomelic dysplasia, Kantaputra type umls:C1835009 Kantaputra Gorlin syndrome 0.210567009140187 2 Biomarker BeFree, CTD_human 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0002940 Aneurysm 0.210567009140187 2 Biomarker BeFree, CTD_human 4320 MMP11 matrix metallopeptidase 11 (stromelysin 3) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210567009140187 2 Biomarker BeFree, CTD_human 56547 MMP26 matrix metallopeptidase 26 umls:C0037274 Skin Diseases 0.210567009140187 2 Biomarker BeFree, CTD_human 4314 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) umls:C0948480 Coronary Restenosis 0.210567009140187 3 Biomarker BeFree, CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0340288 Angina, Stable 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0005967 Bone Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0009324 Colitis, Ulcerative 0.210567009140187 3 Biomarker BeFree, CTD_human 50951 MMVP1 myxomatous mitral valve prolapse 1 umls:C0026267 Mitral Valve Prolapse 0.210567009140187 2 Biomarker BeFree, CTD_human 4337 MOCS1 molybdenum cofactor synthesis 1 umls:C0268119 Molybdenum cofactor deficiency 0.210567009140187 2 Biomarker BeFree, CTD_human 4340 MOG myelin oligodendrocyte glycoprotein umls:C0011303 Demyelinating Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 136647 MPLKIP M-phase specific PLK1 interacting protein umls:C1955934 Trichothiodystrophy Syndromes 0.210567009140187 2 Biomarker BeFree, CTD_human 4353 MPO myeloperoxidase umls:C0009324 Colitis, Ulcerative 0.210567009140187 4 Biomarker BeFree, CTD_human 4358 MPV17 MpV17 mitochondrial inner membrane protein umls:C0017668 Glomerulosclerosis, Focal Segmental 0.210567009140187 2 Biomarker BeFree, CTD_human 10232 MSLN mesothelin umls:C0206698 Cholangiocarcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 4487 MSX1 msh homeobox 1 umls:C0399352 Anodontia 0.210567009140187 2 Biomarker BeFree, CTD_human 4487 MSX1 msh homeobox 1 umls:C1956097 Wolf-Hirschhorn Syndrome 0.210567009140187 2 Biomarker BeFree, CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C1861537 Orofacial Cleft 1 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0031117 Peripheral Nervous System Diseases 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 4583 MUC2 mucin 2, oligomeric mucus/gel-forming umls:C0021841 Intestinal Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 4598 MVK mevalonate kinase umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 3 Biomarker BeFree, CTD_human 4602 MYB v-myb avian myeloblastosis viral oncogene homolog umls:C0017638 Glioma 0.210567009140187 3 Biomarker BeFree, CTD_human 4610 MYCL v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog umls:C0025149 Medulloblastoma 0.210567009140187 3 Biomarker BeFree, CTD_human 4638 MYLK myosin light chain kinase umls:C0027627 Neoplasm Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 4658 MYP2 myopia 2 (high grade, autosomal dominant) umls:C1834531 Myopia 2 0.210567009140187 2 Biomarker BeFree, CTD_human 8202 NCOA3 nuclear receptor coactivator 3 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210567009140187 3 Biomarker BeFree, CTD_human 137682 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 umls:C0023264 Leigh Disease 0.210567009140187 2 Biomarker BeFree, CTD_human 4722 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) umls:C0023264 Leigh Disease 0.210567009140187 2 Biomarker BeFree, CTD_human 4729 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa umls:C0878544 Cardiomyopathies 0.210567009140187 2 Biomarker BeFree, CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0020456 Hyperglycemia 0.210567009140187 3 Biomarker BeFree, CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0023890 Liver Cirrhosis 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210567009140187 3 Biomarker BeFree, CTD_human 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0022661 Kidney Failure, Chronic 0.210567009140187 3 Biomarker BeFree, CTD_human 4804 NGFR nerve growth factor receptor umls:C0033578 Prostatic Neoplasms 0.210567009140187 4 Biomarker, Therapeutic BeFree, CTD_human 4826 NNAT neuronatin umls:C0027819 Neuroblastoma 0.210567009140187 2 Biomarker BeFree, CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0011854 Diabetes Mellitus, Type 1 0.210567009140187 3 Biomarker BeFree, CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0520459 Enterocolitis, Necrotizing 0.210567009140187 3 Biomarker BeFree, CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0027051 Myocardial Infarction 0.210567009140187 4 Biomarker BeFree, CTD_human 4851 NOTCH1 notch 1 umls:C0004114 Astrocytoma 0.210567009140187 3 Biomarker BeFree, CTD_human 10062 NR1H3 nuclear receptor subfamily 1, group H, member 3 umls:C0015695 Fatty Liver 0.210567009140187 3 Biomarker BeFree, CTD_human 9971 NR1H4 nuclear receptor subfamily 1, group H, member 4 umls:C0010346 Crohn Disease 0.210567009140187 3 Biomarker BeFree, CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0001418 Adenocarcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0011849 Diabetes Mellitus 0.210567009140187 3 Biomarker BeFree, CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0028754 Obesity 0.210567009140187 3 Biomarker BeFree, CTD_human 9970 NR1I3 nuclear receptor subfamily 1, group I, member 3 umls:C0023903 Liver Neoplasms 0.210567009140187 6 Biomarker BeFree, CTD_human 9970 NR1I3 nuclear receptor subfamily 1, group I, member 3 umls:C0028754 Obesity 0.210567009140187 3 Biomarker BeFree, CTD_human 7026 NR2F2 nuclear receptor subfamily 2, group F, member 2 umls:C0014175 Endometriosis 0.210567009140187 3 Biomarker BeFree, CTD_human 4901 NRL neural retina leucine zipper umls:C0035304 Retinal Degeneration 0.210567009140187 2 Biomarker BeFree, CTD_human 22978 NT5C2 5'-nucleotidase, cytosolic II umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.210567009140187 3 Biomarker BeFree, CTD_human 22854 NTNG1 netrin G1 umls:C0005586 Bipolar Disorder 0.210567009140187 2 Biomarker BeFree, CTD_human 84628 NTNG2 netrin G2 umls:C0005586 Bipolar Disorder 0.210567009140187 2 Biomarker BeFree, CTD_human 4952 OCRL oculocerebrorenal syndrome of Lowe umls:C1848336 Dent disease 1 0.210567009140187 2 Biomarker BeFree, CTD_human 4953 ODC1 ornithine decarboxylase 1 umls:C0019693 HIV Infections 0.210567009140187 3 Biomarker BeFree, CTD_human 4953 ODC1 ornithine decarboxylase 1 umls:C0030354 Papilloma 0.210567009140187 3 Biomarker BeFree, CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0270850 Epilepsy, Idiopathic Generalized 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 5008 OSM oncostatin M umls:C0027627 Neoplasm Metastasis 0.210567009140187 2 Biomarker BeFree, CTD_human 5021 OXTR oxytocin receptor umls:C0036341 Schizophrenia 0.210567009140187 3 Biomarker BeFree, CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0017636 Glioblastoma 0.210567009140187 2 Biomarker BeFree, CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0033578 Prostatic Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 5080 PAX6 paired box 6 umls:C0376634 Craniofacial Abnormalities 0.210567009140187 5 Biomarker BeFree, CTD_human 5080 PAX6 paired box 6 umls:C0040427 Tooth Abnormalities 0.210567009140187 4 Biomarker BeFree, CTD_human 5087 PBX1 pre-B-cell leukemia homeobox 1 umls:C0006413 Burkitt Lymphoma 0.210567009140187 4 Biomarker, GeneticVariation BeFree, CTD_human 5105 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) umls:C0028754 Obesity 0.210567009140187 3 Biomarker BeFree, CTD_human 5111 PCNA proliferating cell nuclear antigen umls:C0022116 Ischemia 0.210567009140187 3 Biomarker BeFree, CTD_human 5131 PDB1 Paget disease of bone 1 umls:C0029401 Osteitis Deformans 0.210567009140187 2 Biomarker BeFree, CTD_human 5133 PDCD1 programmed cell death 1 umls:C0025202 Melanoma 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0004096 Asthma 0.210567009140187 3 Biomarker BeFree, CTD_human 5158 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta umls:C0339535 Night blindness, congenital stationary 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 5173 PDYN prodynorphin umls:C0036572 Seizures 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 5175 PECAM1 platelet/endothelial cell adhesion molecule 1 umls:C0004364 Autoimmune Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 5194 PEX13 peroxisomal biogenesis factor 13 umls:C1832200 Peroxisome biogenesis disorders 0.210567009140187 3 Biomarker BeFree, CTD_human 5194 PEX13 peroxisomal biogenesis factor 13 umls:C0043459 Zellweger Syndrome 0.210567009140187 3 Biomarker BeFree, CTD_human 5195 PEX14 peroxisomal biogenesis factor 14 umls:C1832200 Peroxisome biogenesis disorders 0.210567009140187 4 Biomarker BeFree, CTD_human 9409 PEX16 peroxisomal biogenesis factor 16 umls:C1832200 Peroxisome biogenesis disorders 0.210567009140187 3 Biomarker BeFree, CTD_human 55670 PEX26 peroxisomal biogenesis factor 26 umls:C1832200 Peroxisome biogenesis disorders 0.210567009140187 2 Biomarker BeFree, CTD_human 55670 PEX26 peroxisomal biogenesis factor 26 umls:C0043459 Zellweger Syndrome 0.210567009140187 2 Biomarker BeFree, CTD_human 8504 PEX3 peroxisomal biogenesis factor 3 umls:C1832200 Peroxisome biogenesis disorders 0.210567009140187 3 Biomarker BeFree, CTD_human 5287 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta umls:C0027627 Neoplasm Metastasis 0.210567009140187 2 Biomarker BeFree, CTD_human 5292 PIM1 Pim-1 proto-oncogene, serine/threonine kinase umls:C0017636 Glioblastoma 0.210567009140187 2 Biomarker BeFree, CTD_human 5315 PKM pyruvate kinase, muscle umls:C0007097 Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 5320 PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) umls:C0009404 Colorectal Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 7941 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) umls:C0017661 Glomerulonephritis, IGA 0.210567009140187 3 Biomarker BeFree, CTD_human 5327 PLAT plasminogen activator, tissue umls:C0007785 Cerebral Infarction 0.210567009140187 8 Biomarker, Therapeutic BeFree, CTD_human 5327 PLAT plasminogen activator, tissue umls:C0010072 Coronary Thrombosis 0.210567009140187 5 Biomarker, Therapeutic BeFree, CTD_human 5327 PLAT plasminogen activator, tissue umls:C0040038 Thromboembolism 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 5335 PLCG1 phospholipase C, gamma 1 umls:C0018923 Hemangiosarcoma 0.210567009140187 2 Biomarker BeFree, CTD_human 5371 PML promyelocytic leukemia umls:C0017636 Glioblastoma 0.210567009140187 3 Biomarker BeFree, CTD_human 5368 PNOC prepronociceptin umls:C0020429 Hyperalgesia 0.210567009140187 4 Biomarker BeFree, CTD_human 5428 POLG polymerase (DNA directed), gamma umls:C0031117 Peripheral Nervous System Diseases 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0026769 Multiple Sclerosis 0.210567009140187 4 Biomarker, Therapeutic BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0030193 Pain 0.210567009140187 5 Biomarker, Therapeutic BeFree, CTD_human 5444 PON1 paraoxonase 1 umls:C0024299 Lymphoma 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 5457 POU4F1 POU class 4 homeobox 1 umls:C0206708 Cervical Intraepithelial Neoplasia 0.210567009140187 2 Biomarker BeFree, CTD_human 5457 POU4F1 POU class 4 homeobox 1 umls:C0023467 Leukemia, Myeloid, Acute 0.210567009140187 3 Biomarker BeFree, CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0014072 Encephalomyelitis, Autoimmune, Experimental 0.210567009140187 3 Biomarker BeFree, CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0019209 Hepatomegaly 0.210567009140187 3 Biomarker BeFree, CTD_human 100528023 PPR1 Photoparoxysmal response 1 umls:C1868677 PHOTOPAROXYSMAL RESPONSE 1 0.210567009140187 2 Biomarker BeFree, CTD_human 23532 PRAME preferentially expressed antigen in melanoma umls:C0025149 Medulloblastoma 0.210567009140187 3 Biomarker BeFree, CTD_human 5052 PRDX1 peroxiredoxin 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 7001 PRDX2 peroxiredoxin 2 umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 3 Biomarker BeFree, CTD_human 7001 PRDX2 peroxiredoxin 2 umls:C0025202 Melanoma 0.210567009140187 2 Biomarker BeFree, CTD_human 5551 PRF1 perforin 1 (pore forming protein) umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210567009140187 3 Biomarker BeFree, CTD_human 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C0023487 Leukemia, Promyelocytic, Acute 0.210567009140187 2 Biomarker BeFree, CTD_human 5617 PRL prolactin umls:C0002453 Amenorrhea 0.210567009140187 3 Biomarker BeFree, CTD_human 5617 PRL prolactin umls:C0020635 Hypopituitarism 0.210567009140187 3 Biomarker BeFree, CTD_human 5961 PRPH2 peripherin 2 (retinal degeneration, slow) umls:C0339510 Vitelliform Macular Dystrophy 0.210567009140187 2 Biomarker BeFree, CTD_human 646960 PRSS56 protease, serine, 56 umls:C0017605 Glaucoma, Angle-Closure 0.210567009140187 2 Biomarker BeFree, CTD_human 170679 PSORS1C1 psoriasis susceptibility 1 candidate 1 umls:C0036421 Scleroderma, Systemic 0.210567009140187 2 Biomarker BeFree, CTD_human 5727 PTCH1 patched 1 umls:C0206663 Neuroectodermal Tumors, Primitive 0.210567009140187 3 Biomarker BeFree, CTD_human 139411 PTCHD1 patched domain containing 1 umls:C3714756 Intellectual Disability 0.210567009140187 2 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0023798 Lipoma 0.210567009140187 3 Biomarker BeFree, CTD_human 5734 PTGER4 prostaglandin E receptor 4 (subtype EP4) umls:C0014175 Endometriosis 0.210567009140187 3 Biomarker BeFree, CTD_human 5734 PTGER4 prostaglandin E receptor 4 (subtype EP4) umls:C0038013 Spondylitis, Ankylosing 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0022658 Kidney Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 5764 PTN pleiotrophin umls:C0007097 Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 11156 PTP4A3 protein tyrosine phosphatase type IVA, member 3 umls:C0009375 Colonic Neoplasms 0.210567009140187 2 Biomarker, Therapeutic BeFree, CTD_human 5770 PTPN1 protein tyrosine phosphatase, non-receptor type 1 umls:C0079731 Lymphoma, B-Cell 0.210567009140187 2 Biomarker BeFree, CTD_human 29108 PYCARD PYD and CARD domain containing umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 2 Biomarker BeFree, CTD_human 5831 PYCR1 pyrroline-5-carboxylate reductase 1 umls:C0010495 Cutis Laxa 0.210567009140187 3 Biomarker BeFree, CTD_human 10981 RAB32 RAB32, member RAS oncogene family umls:C0023343 Leprosy 0.210567009140187 2 Biomarker BeFree, CTD_human 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C1458155 Breast Neoplasms 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0023903 Liver Neoplasms 0.210567009140187 3 Biomarker BeFree, CTD_human 8434 RECK reversion-inducing-cysteine-rich protein with kazal motifs umls:C0017636 Glioblastoma 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 5972 REN renin umls:C0022116 Ischemia 0.210567009140187 3 Biomarker BeFree, CTD_human 6010 RHO rhodopsin umls:C0311338 Fundus Albipunctatus 0.210567009140187 2 Biomarker BeFree, CTD_human 388 RHOB ras homolog family member B umls:C0036421 Scleroderma, Systemic 0.210567009140187 2 Biomarker BeFree, CTD_human 100188812 RLS3 Restless legs syndrome 3 umls:C0035258 Restless Legs Syndrome 0.210567009140187 2 Biomarker BeFree, CTD_human 6199 RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 umls:C1458155 Breast Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 6236 RRAD Ras-related associated with diabetes umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210567009140187 2 Biomarker BeFree, CTD_human 864 RUNX3 runt-related transcription factor 3 umls:C0017636 Glioblastoma 0.210567009140187 2 Biomarker BeFree, CTD_human 6319 SCD stearoyl-CoA desaturase (delta-9-desaturase) umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 3 Biomarker BeFree, CTD_human 6336 SCN10A sodium channel, voltage gated, type X alpha subunit umls:C0027796 Neuralgia 0.210567009140187 3 Biomarker BeFree, CTD_human 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C0150055 Chronic Pain 0.210567009140187 3 Biomarker BeFree, CTD_human 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C0221043 Liddle Syndrome 0.210567009140187 3 Biomarker BeFree, CTD_human 6338 SCNN1B sodium channel, non voltage gated 1 beta subunit umls:C0024115 Lung Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 6401 SELE selectin E umls:C0085580 Hypertension, Essential 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 8991 SELENBP1 selenium binding protein 1 umls:C0001418 Adenocarcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0033578 Prostatic Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0008370 Cholestasis 0.210567009140187 3 Biomarker BeFree, CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0030328 Panniculitis, Nodular Nonsuppurative 0.210567009140187 3 Biomarker BeFree, CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0034069 Pulmonary Fibrosis 0.210567009140187 3 Biomarker BeFree, CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0005779 Blood Coagulation Disorders 0.210567009140187 3 Biomarker BeFree, CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0027726 Nephrotic Syndrome 0.210567009140187 3 Biomarker BeFree, CTD_human 5176 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 umls:C0033578 Prostatic Neoplasms 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 26040 SETBP1 SET binding protein 1 umls:C1292772 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 0.210567009140187 2 Biomarker BeFree, CTD_human 2810 SFN stratifin umls:C0152013 Adenocarcinoma of lung 0.210567009140187 2 Biomarker BeFree, CTD_human 2810 SFN stratifin umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 6422 SFRP1 secreted frizzled-related protein 1 umls:C0023267 Leiomyoma 0.210567009140187 2 Biomarker BeFree, CTD_human 6423 SFRP2 secreted frizzled-related protein 2 umls:C1458155 Breast Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 23411 SIRT1 sirtuin 1 umls:C0014072 Encephalomyelitis, Autoimmune, Experimental 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 23411 SIRT1 sirtuin 1 umls:C0018799 Heart Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 23411 SIRT1 sirtuin 1 umls:C0035309 Retinal Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 6495 SIX1 SIX homeobox 1 umls:C0000768 Congenital Abnormalities 0.210567009140187 3 Biomarker BeFree, CTD_human 6502 SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.210567009140187 2 Biomarker BeFree, CTD_human 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0014544 Epilepsy 0.210567009140187 3 Biomarker BeFree, CTD_human 57468 SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 umls:C0036572 Seizures 0.210567009140187 3 Biomarker BeFree, CTD_human 26503 SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 umls:C0025202 Melanoma 0.210567009140187 3 Biomarker BeFree, CTD_human 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C0014556 Epilepsy, Temporal Lobe 0.210567009140187 2 Biomarker BeFree, CTD_human 6580 SLC22A1 solute carrier family 22 (organic cation transporter), member 1 umls:C0028754 Obesity 0.210567009140187 2 Biomarker BeFree, CTD_human 6584 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 umls:C0007193 Cardiomyopathy, Dilated 0.210567009140187 2 Biomarker BeFree, CTD_human 54977 SLC25A38 solute carrier family 25, member 38 umls:C0002896 Anemia, Sideroblastic 0.210567009140187 3 Biomarker BeFree, CTD_human 10861 SLC26A1 solute carrier family 26 (anion exchanger), member 1 umls:C0020500 Hyperoxaluria 0.210567009140187 3 Biomarker BeFree, CTD_human 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C0020555 Hypertrichosis 0.210567009140187 3 Biomarker BeFree, CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0007124 Carcinoma, Intraductal, Noninfiltrating 0.210567009140187 2 Biomarker BeFree, CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C3714756 Intellectual Disability 0.210567009140187 3 Biomarker BeFree, CTD_human 6518 SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 umls:C1458155 Breast Neoplasms 0.210567009140187 2 Biomarker, Therapeutic BeFree, CTD_human 55630 SLC39A4 solute carrier family 39 (zinc transporter), member 4 umls:C0027627 Neoplasm Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 25800 SLC39A6 solute carrier family 39 (zinc transporter), member 6 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210567009140187 2 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 57282 SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 umls:C0014544 Epilepsy 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C0025202 Melanoma 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C0033578 Prostatic Neoplasms 0.210567009140187 4 Biomarker, Therapeutic BeFree, CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0497327 Dementia 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 4088 SMAD3 SMAD family member 3 umls:C0003486 Aortic Aneurysm 0.210567009140187 2 Biomarker BeFree, CTD_human 4089 SMAD4 SMAD family member 4 umls:C1134719 Carcinoma, Ductal, Breast 0.210567009140187 3 Biomarker BeFree, CTD_human 6597 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 umls:C0262584 Carcinoma, Small Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 6608 SMO smoothened, frizzled class receptor umls:C0025286 Meningioma 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0038454 Stroke 0.210567009140187 3 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0152013 Adenocarcinoma of lung 0.210567009140187 3 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C1168401 Carcinoma, squamous cell of head and neck 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210567009140187 4 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0029456 Osteoporosis 0.210567009140187 3 Biomarker BeFree, CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0158266 Intervertebral Disc Degeneration 0.210567009140187 2 Biomarker BeFree, CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0022658 Kidney Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0023467 Leukemia, Myeloid, Acute 0.210567009140187 3 Biomarker BeFree, CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0026764 Multiple Myeloma 0.210567009140187 2 Biomarker BeFree, CTD_human 55812 SPATA7 spermatogenesis associated 7 umls:C0035334 Retinitis Pigmentosa 0.210567009140187 2 Biomarker BeFree, CTD_human 8877 SPHK1 sphingosine kinase 1 umls:C0023418 Leukemia 0.210567009140187 3 Biomarker BeFree, CTD_human 619394 SPOAN spastic paraplegia, optic atrophy, and neuropathy umls:C1836010 Spastic Paraplegia, Optic Atrophy, and Neuropathy 0.210567009140187 2 Biomarker BeFree, CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0023896 Liver Diseases, Alcoholic 0.210567009140187 2 Biomarker BeFree, CTD_human 6710 SPTB spectrin, beta, erythrocytic umls:C0037889 Spherocytosis, Hereditary 0.210567009140187 4 Biomarker BeFree, CTD_human 6750 SST somatostatin umls:C0014175 Endometriosis 0.210567009140187 3 Biomarker BeFree, CTD_human 6750 SST somatostatin umls:C0036572 Seizures 0.210567009140187 5 Biomarker, Therapeutic BeFree, CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0023492 Leukemia, T-Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 6775 STAT4 signal transducer and activator of transcription 4 umls:C2239176 Carcinoma, Hepatocellular 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 3925 STMN1 stathmin 1 umls:C0017638 Glioma 0.210567009140187 3 Biomarker BeFree, CTD_human 3925 STMN1 stathmin 1 umls:C0033578 Prostatic Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 412 STS steroid sulfatase (microsomal), isozyme S umls:C0028754 Obesity 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 6821 SUOX sulfite oxidase umls:C0268624 Sulfite oxidase deficiency 0.210567009140187 2 Biomarker BeFree, CTD_human 23224 SYNE2 spectrin repeat containing, nuclear envelope 2 umls:C0410189 Muscular Dystrophy, Emery-Dreifuss 0.210567009140187 2 Biomarker BeFree, CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0017168 Gastroesophageal Reflux 0.210567009140187 3 Biomarker BeFree, CTD_human 6873 TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa umls:C3714756 Intellectual Disability 0.210567009140187 3 Biomarker BeFree, CTD_human 6905 TBCE tubulin folding cofactor E umls:C0265291 Kenny Caffey syndrome 0.210567009140187 3 Biomarker BeFree, CTD_human 9755 TBKBP1 TBK1 binding protein 1 umls:C0038013 Spondylitis, Ankylosing 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 6915 TBXA2R thromboxane A2 receptor umls:C1319853 Asthma, Aspirin-Induced 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 6938 TCF12 transcription factor 12 umls:C0010278 Craniosynostoses 0.210567009140187 2 Biomarker BeFree, CTD_human 6934 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) umls:C0001418 Adenocarcinoma 0.210567009140187 3 Biomarker BeFree, CTD_human 7015 TERT telomerase reverse transcriptase umls:C1846142 Hoyeraal Hreidarsson syndrome 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 26136 TES testin LIM domain protein umls:C0017636 Glioblastoma 0.210567009140187 3 Biomarker BeFree, CTD_human 7037 TFRC transferrin receptor umls:C0017638 Glioma 0.210567009140187 3 Biomarker BeFree, CTD_human 7039 TGFA transforming growth factor, alpha umls:C0023903 Liver Neoplasms 0.210567009140187 3 Biomarker, PostTranslationalModification BeFree, CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0040028 Thrombocythemia, Essential 0.210567009140187 2 Biomarker BeFree, CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0149931 Migraine Disorders 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 7051 TGM1 transglutaminase 1 umls:C0263454 Chloracne 0.210567009140187 2 Biomarker BeFree, CTD_human 117193 THMA Tibial hemimelia umls:C0265633 Absence of Tibia 0.210567009140187 2 Biomarker BeFree, CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0011860 Diabetes Mellitus, Type 2 0.210567009140187 2 Biomarker BeFree, CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0029172 Oral Submucous Fibrosis 0.210567009140187 3 Biomarker BeFree, CTD_human 7078 TIMP3 TIMP metallopeptidase inhibitor 3 umls:C0004096 Asthma 0.210567009140187 2 Biomarker BeFree, CTD_human 7086 TKT transketolase umls:C0043121 Wernicke Encephalopathy 0.210567009140187 3 Biomarker BeFree, CTD_human 7100 TLR5 toll-like receptor 5 umls:C0023241 Legionnaires' Disease 0.210567009140187 2 Biomarker BeFree, CTD_human 3195 TLX1 T-cell leukemia homeobox 1 umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.210567009140187 3 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0006267 Bronchiectasis 0.210567009140187 3 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0023860 Listeriosis 0.210567009140187 3 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0027796 Neuralgia 0.210567009140187 3 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0036420 Scleroderma, Localized 0.210567009140187 3 Biomarker BeFree, CTD_human 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0020437 Hypercalcemia 0.210567009140187 3 Biomarker, Therapeutic BeFree, CTD_human 8600 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 umls:C0020437 Hypercalcemia 0.210567009140187 3 Biomarker BeFree, CTD_human 7137 TNNI3 troponin I type 3 (cardiac) umls:C0018799 Heart Diseases 0.210567009140187 3 Biomarker BeFree, CTD_human 7189 TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase umls:C1956346 Coronary Artery Disease 0.210567009140187 2 Biomarker BeFree, CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0036572 Seizures 0.210567009140187 4 Biomarker BeFree, CTD_human 84676 TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase umls:C0878544 Cardiomyopathies 0.210567009140187 3 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0020429 Hyperalgesia 0.210567009140187 3 Biomarker BeFree, CTD_human 7249 TSC2 tuberous sclerosis 2 umls:C0023467 Leukemia, Myeloid, Acute 0.210567009140187 3 Biomarker BeFree, CTD_human 347733 TUBB2B tubulin, beta 2B class IIb umls:C1955869 Malformations of Cortical Development 0.210567009140187 3 Biomarker BeFree, CTD_human 57045 TWSG1 twisted gastrulation BMP signaling modulator 1 umls:C0079541 Holoprosencephaly 0.210567009140187 3 Biomarker BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0242350 Erectile Dysfunction 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C2717961 Thrombotic Microangiopathies 0.210567009140187 3 Biomarker BeFree, CTD_human 7431 VIM vimentin umls:C0039101 Sarcoma, Synovial 0.210567009140187 3 Biomarker BeFree, CTD_human 7432 VIP vasoactive intestinal peptide umls:C0027627 Neoplasm Metastasis 0.210567009140187 3 Biomarker BeFree, CTD_human 79001 VKORC1 vitamin K epoxide reductase complex, subunit 1 umls:C0005779 Blood Coagulation Disorders 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 7436 VLDLR very low density lipoprotein receptor umls:C0004352 Autistic Disorder 0.210567009140187 2 Biomarker BeFree, CTD_human 7436 VLDLR very low density lipoprotein receptor umls:C0028754 Obesity 0.210567009140187 2 Biomarker BeFree, CTD_human 55350 VNN3 vanin 3 umls:C0033860 Psoriasis 0.210567009140187 2 Biomarker BeFree, CTD_human 11311 VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) umls:C1853118 Neutropenia, Severe Congenital, Autosomal Recessive 3 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 7480 WNT10B wingless-type MMTV integration site family, member 10B umls:C1458155 Breast Neoplasms 0.210567009140187 2 Biomarker BeFree, CTD_human 7473 WNT3 wingless-type MMTV integration site family, member 3 umls:C2931216 Tetra-amelia autosomal recessive 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 7498 XDH xanthine dehydrogenase umls:C0022116 Ischemia 0.210567009140187 3 Biomarker BeFree, CTD_human 7508 XPC xeroderma pigmentosum, complementation group C umls:C0152013 Adenocarcinoma of lung 0.210567009140187 2 Biomarker BeFree, CTD_human 7515 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 umls:C0041834 Erythema 0.210567009140187 3 Biomarker BeFree, CTD_human 64132 XYLT2 xylosyltransferase II umls:C0033847 Pseudoxanthoma Elasticum 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 7528 YY1 YY1 transcription factor umls:C0019693 HIV Infections 0.210567009140187 3 Biomarker, GeneticVariation BeFree, CTD_human 346171 ZFP57 ZFP57 zinc finger protein umls:C0011849 Diabetes Mellitus 0.210567009140187 3 Biomarker BeFree, CTD_human 387032 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 umls:C0036341 Schizophrenia 0.210567009140187 2 Biomarker, GeneticVariation BeFree, CTD_human 7592 ZNF41 zinc finger protein 41 umls:C1136249 Mental Retardation, X-Linked 0.210567009140187 2 Biomarker BeFree, CTD_human 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C0038644 Sudden Infant Death 0.210529802878435 6 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 1785 DNM2 dynamin 2 umls:C0007959 Charcot-Marie-Tooth Disease 0.210431740961238 19 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 51360 MBTPS2 membrane-bound transcription factor peptidase, site 2 umls:C3275579 IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.210283504570094 1 GeneticVariation BeFree, UNIPROT 1675 CFD complement factor D (adipsin) umls:C0398764 Complement Factor D Deficiency 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 4000 LMNA lamin A/C umls:C0796031 Malouf syndrome 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 7471 WNT1 wingless-type MMTV integration site family, member 1 umls:C0029456 Osteoporosis 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 478 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide umls:C1832466 CAPOS syndrome 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 2984 GUCY2C guanylate cyclase 2C umls:C2939175 Meconium ileus 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0152018 ESOPHAGEAL CARCINOMA 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 846 CASR calcium-sensing receptor umls:C3715128 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 0.210283504570094 1 GeneticVariation BeFree, UNIPROT 1482 NKX2-5 NK2 homeobox 5 umls:C0685889 Splenic Hypoplasia 0.210283504570094 1 GeneticVariation BeFree, UNIPROT 5428 POLG polymerase (DNA directed), gamma umls:C0023264 Leigh Disease 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C3151201 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 5157 PDGFRL platelet-derived growth factor receptor-like umls:C1527249 Colorectal Cancer 0.210283504570094 2 Biomarker, GeneticVariation BeFree, UNIPROT 27063 ANKRD1 ankyrin repeat domain 1 (cardiac muscle) umls:C0036400 Scimitar Syndrome 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 3764 KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8 umls:C0038644 Sudden Infant Death 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 343637 RSPO4 R-spondin 4 umls:C3277900 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 0.210283504570094 2 Biomarker, GeneticVariation BeFree, UNIPROT 339453 TMEM240 transmembrane protein 240 umls:C1843891 Spinocerebellar ataxia 21 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 79133 NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 umls:C0023264 Leigh Disease 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 23384 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like umls:C1838348 Oculomaxillofacial dysostosis 0.210283504570094 2 Biomarker, GeneticVariation BeFree, UNIPROT 132158 GLYCTK glycerate kinase umls:C0342765 D-Glyceric aciduria 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 55034 MOCOS molybdenum cofactor sulfurase umls:C1863688 Xanthinuria, Type II 0.210283504570094 3 Biomarker, GeneticVariation BeFree, UNIPROT 63895 PIEZO2 piezo-type mechanosensitive ion channel component 2 umls:C0220666 Gordon syndrome 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 63895 PIEZO2 piezo-type mechanosensitive ion channel component 2 umls:C0796033 Marden-Walker syndrome 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 57688 ZSWIM6 zinc finger, SWIM-type containing 6 umls:C1863616 Acromelic Frontonasal Dysostosis 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 54556 ING3 inhibitor of growth family, member 3 umls:C1168401 Carcinoma, squamous cell of head and neck 0.210283504570094 2 Biomarker, GeneticVariation BeFree, UNIPROT 57509 MTUS1 microtubule associated tumor suppressor 1 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 26040 SETBP1 SET binding protein 1 umls:C3463824 MYELODYSPLASTIC SYNDROME 0.210283504570094 1 Biomarker, GeneticVariation BeFree, UNIPROT 2 A2M alpha-2-macroglobulin umls:C0027726 Nephrotic Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 79719 AAGAB alpha- and gamma-adaptin binding protein umls:C0022596 Keratoderma, Palmoplantar 0.210283504570094 2 Biomarker BeFree, CTD_human 18 ABAT 4-aminobutyrate aminotransferase umls:C0017168 Gastroesophageal Reflux 0.210283504570094 1 Biomarker BeFree, CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0206686 Adrenocortical Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0027765 Nervous System Diseases 0.210283504570094 3 Biomarker BeFree, CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0745744 End Stage Liver Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 4363 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 9429 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.210283504570094 1 Biomarker BeFree, CTD_human 64240 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 umls:C1956346 Coronary Artery Disease 0.210283504570094 3 Biomarker BeFree, CTD_human 64240 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 umls:C0043325 Xanthomatosis 0.210283504570094 2 Biomarker BeFree, CTD_human 25 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase umls:C0014859 Esophageal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 25 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase umls:C0032927 Precancerous Conditions 0.210283504570094 2 Biomarker BeFree, CTD_human 29 ABR active BCR-related umls:C0025149 Medulloblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 387569 ACF Asymmetric crying facies (Cayler cardiofacial syndrome) umls:C0431406 Cayler cardiofacial syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0002726 Amyloidosis 0.210283504570094 2 Biomarker BeFree, CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0027765 Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 54 ACP5 acid phosphatase 5, tartrate resistant umls:C0028754 Obesity 0.210283504570094 2 Biomarker BeFree, CTD_human 2182 ACSL4 acyl-CoA synthetase long-chain family member 4 umls:C0041834 Erythema 0.210283504570094 1 Biomarker BeFree, CTD_human 389036 ACT actin-like protein (ACT) gene umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 72 ACTG2 actin, gamma 2, smooth muscle, enteric umls:C0266833 Visceral Myopathy, Familial 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 90 ACVR1 activin A receptor, type I umls:C0004114 Astrocytoma 0.210283504570094 1 Biomarker BeFree, CTD_human 90 ACVR1 activin A receptor, type I umls:C0017638 Glioma 0.210283504570094 3 Biomarker BeFree, CTD_human 93 ACVR2B activin A receptor, type IIB umls:C3178805 Heterotaxy Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 95 ACY1 aminoacylase 1 umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 8081 AD5 Alzheimer disease 5 umls:C0002395 Alzheimer Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 8081 AD5 Alzheimer disease 5 umls:C1865868 Alzheimer Disease 5 0.210283504570094 1 Biomarker BeFree, CTD_human 114 ADCY8 adenylate cyclase 8 (brain) umls:C0525045 Mood Disorders 0.210283504570094 1 Biomarker BeFree, CTD_human 450088 ADHD2 Attention deficit-hyperactivity disorder, susceptibility to, 2 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.210283504570094 1 Biomarker BeFree, CTD_human 133 ADM adrenomedullin umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 134 ADORA1 adenosine A1 receptor umls:C0022116 Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 135 ADORA2A adenosine A2a receptor umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 140 ADORA3 adenosine A3 receptor umls:C0022116 Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 150 ADRA2A adrenoceptor alpha 2A umls:C0030319 Panic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 156 ADRBK1 adrenergic, beta, receptor kinase 1 umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 1 Biomarker BeFree, CTD_human 170 AFA ankyloblepharon filiforme adnatum umls:C1862866 Ankyloblepharon filiforme adnatum cleft palate 0.210283504570094 1 Biomarker BeFree, CTD_human 27161 AGO2 argonaute RISC catalytic component 2 umls:C0023470 Leukemia, Myeloid 0.210283504570094 1 Biomarker BeFree, CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 54806 AHI1 Abelson helper integration site 1 umls:C0035304 Retinal Degeneration 0.210283504570094 1 Biomarker BeFree, CTD_human 196 AHR aryl hydrocarbon receptor umls:C0018798 Heart Defects, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 196 AHR aryl hydrocarbon receptor umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 196 AHR aryl hydrocarbon receptor umls:C0032285 Pneumonia 0.210283504570094 2 Biomarker BeFree, CTD_human 57379 AICDA activation-induced cytidine deaminase umls:C0005699 Blast Crisis 0.210283504570094 2 Biomarker BeFree, CTD_human 9131 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 umls:C0020179 Huntington Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 9049 AIP aryl hydrocarbon receptor interacting protein umls:C1306214 ACTH-Secreting Pituitary Adenoma 0.210283504570094 1 Biomarker BeFree, CTD_human 57016 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1645 AKR1C1 aldo-keto reductase family 1, member C1 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 1646 AKR1C2 aldo-keto reductase family 1, member C2 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 8644 AKR1C3 aldo-keto reductase family 1, member C3 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 8644 AKR1C3 aldo-keto reductase family 1, member C3 umls:C0028754 Obesity 0.210283504570094 2 Biomarker BeFree, CTD_human 1109 AKR1C4 aldo-keto reductase family 1, member C4 umls:C1456784 Paranoid Disorders 0.210283504570094 1 Biomarker BeFree, CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0025286 Meningioma 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0026846 Muscular Atrophy 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 210 ALAD aminolevulinate dehydratase umls:C0025286 Meningioma 0.210283504570094 1 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0014544 Epilepsy 0.210283504570094 3 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0027720 Nephrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 213 ALB albumin umls:C0038454 Stroke 0.210283504570094 5 Biomarker, Therapeutic BeFree, CTD_human 126133 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 umls:C0740394 Hyperuricemia 0.210283504570094 1 Biomarker BeFree, CTD_human 8854 ALDH1A2 aldehyde dehydrogenase 1 family, member A2 umls:C0033578 Prostatic Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0006118 Brain Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0085269 Plasma Cell Granuloma, Pulmonary 0.210283504570094 2 Biomarker BeFree, CTD_human 100310786 ALL2 Leukemia, acute lymphoblastic, susceptibility to, 2 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.210283504570094 1 Biomarker BeFree, CTD_human 246 ALOX15 arachidonate 15-lipoxygenase umls:C0014859 Esophageal Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 246 ALOX15 arachidonate 15-lipoxygenase umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 249 ALPL alkaline phosphatase, liver/bone/kidney umls:C0036572 Seizures 0.210283504570094 2 GeneticVariation, Therapeutic BeFree, CTD_human 270 AMPD1 adenosine monophosphate deaminase 1 umls:C0151786 Muscle Weakness 0.210283504570094 2 Biomarker BeFree, CTD_human 114293 ANBC Aneurysmal bone cysts umls:C0152244 Bone Cysts, Aneurysmal 0.210283504570094 1 Biomarker BeFree, CTD_human 51129 ANGPTL4 angiopoietin-like 4 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 255239 ANKK1 ankyrin repeat and kinase domain containing 1 umls:C0023015 Language Disorders 0.210283504570094 1 Biomarker BeFree, CTD_human 203286 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 umls:C1691228 Kidney Diseases, Cystic 0.210283504570094 2 Biomarker BeFree, CTD_human 203286 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 umls:C0085413 Polycystic Kidney, Autosomal Dominant 0.210283504570094 2 Biomarker BeFree, CTD_human 203286 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 umls:C0037221 Situs Inversus 0.210283504570094 1 Biomarker BeFree, CTD_human 63982 ANO3 anoctamin 3 umls:C0009952 Seizures, Febrile 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 301 ANXA1 annexin A1 umls:C0024232 Lymphatic Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 302 ANXA2 annexin A2 umls:C0023903 Liver Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 302 ANXA2 annexin A2 umls:C0029456 Osteoporosis 0.210283504570094 2 Biomarker BeFree, CTD_human 306 ANXA3 annexin A3 umls:C0024141 Lupus Erythematosus, Systemic 0.210283504570094 1 Biomarker BeFree, CTD_human 308 ANXA5 annexin A5 umls:C0007137 Carcinoma, Squamous Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 308 ANXA5 annexin A5 umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 2 Biomarker BeFree, CTD_human 100188340 AOS Adams-Oliver syndrome umls:C0265268 Adams Oliver syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 324 APC adenomatous polyposis coli umls:C0017636 Glioblastoma 0.210283504570094 2 Biomarker BeFree, CTD_human 325 APCS amyloid P component, serum umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 325 APCS amyloid P component, serum umls:C1956346 Coronary Artery Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 335 APOA1 apolipoprotein A-I umls:C0853897 Diabetic Cardiomyopathies 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 335 APOA1 apolipoprotein A-I umls:C0038356 Stomach Neoplasms 0.210283504570094 3 Biomarker BeFree, CTD_human 116519 APOA5 apolipoprotein A-V umls:C0020480 Hyperlipoproteinemia Type IV 0.210283504570094 1 Biomarker BeFree, CTD_human 338 APOB apolipoprotein B umls:C1704299 Hypobetalipoproteinemia, Familial, Apolipoprotein B 0.210283504570094 4 Biomarker BeFree, CTD_human 338 APOB apolipoprotein B umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 9582 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B umls:C1458155 Breast Neoplasms 0.210283504570094 3 Biomarker BeFree, CTD_human 9582 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B umls:C0007137 Carcinoma, Squamous Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 347 APOD apolipoprotein D umls:C0017638 Glioma 0.210283504570094 1 Biomarker BeFree, CTD_human 348 APOE apolipoprotein E umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 348 APOE apolipoprotein E umls:C1565489 Renal Insufficiency 0.210283504570094 2 Biomarker BeFree, CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0016667 Fragile X Syndrome 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 358 AQP1 aquaporin 1 (Colton blood group) umls:C0010606 Carcinoma, Adenoid Cystic 0.210283504570094 2 Biomarker BeFree, CTD_human 360 AQP3 aquaporin 3 (Gill blood group) umls:C0024232 Lymphatic Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 360 AQP3 aquaporin 3 (Gill blood group) umls:C0037286 Skin Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 366 AQP9 aquaporin 9 umls:C0023418 Leukemia 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 374 AREG amphiregulin umls:C0919267 Ovarian Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 384 ARG2 arginase 2 umls:C0887833 Carcinoma, Pancreatic Ductal 0.210283504570094 1 Biomarker BeFree, CTD_human 9411 ARHGAP29 Rho GTPase activating protein 29 umls:C0334634 Lymphoma, Mantle-Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 64333 ARHGAP9 Rho GTPase activating protein 9 umls:C0010073 Coronary Vasospasm 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 397 ARHGDIB Rho GDP dissociation inhibitor (GDI) beta umls:C0019693 HIV Infections 0.210283504570094 2 Biomarker BeFree, CTD_human 23365 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 1 Biomarker BeFree, CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0006413 Burkitt Lymphoma 0.210283504570094 1 Biomarker BeFree, CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0007138 Carcinoma, Transitional Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0265338 Coffin-Siris syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0027819 Neuroblastoma 0.210283504570094 2 Biomarker BeFree, CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0005695 Urinary Bladder Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 57492 ARID1B AT rich interactive domain 1B (SWI1-like) umls:C0027819 Neuroblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 406 ARNTL aryl hydrocarbon receptor nuclear translocator-like umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.210283504570094 2 Biomarker BeFree, CTD_human 410 ARSA arylsulfatase A umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 429 ASCL1 achaete-scute family bHLH transcription factor 1 umls:C1275808 Congenital central hypoventilation syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 465 ATD asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) umls:C0265275 Jeune syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 472 ATM ATM serine/threonine kinase umls:C0079774 Lymphoma, T-Cell, Peripheral 0.210283504570094 2 Biomarker BeFree, CTD_human 481 ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide umls:C0085580 Hypertension, Essential 0.210283504570094 1 Biomarker BeFree, CTD_human 489 ATP2A3 ATPase, Ca++ transporting, ubiquitous umls:C0011860 Diabetes Mellitus, Type 2 0.210283504570094 2 Biomarker BeFree, CTD_human 492 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 umls:C0001430 Adenoma 0.210283504570094 1 Biomarker BeFree, CTD_human 492 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 4508 ATP6 ATP synthase F0 subunit 6 umls:C0271650 Glucose Intolerance 0.210283504570094 2 Biomarker BeFree, CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0009404 Colorectal Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0010417 Cryptorchidism 0.210283504570094 1 Biomarker BeFree, CTD_human 554 AVPR2 arginine vasopressin receptor 2 umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 567 B2M beta-2-microglobulin umls:C0004364 Autoimmune Diseases 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 573 BAG1 BCL2-associated athanogene umls:C1134719 Carcinoma, Ductal, Breast 0.210283504570094 1 Biomarker BeFree, CTD_human 9531 BAG3 BCL2-associated athanogene 3 umls:C0019693 HIV Infections 0.210283504570094 1 Biomarker BeFree, CTD_human 116071 BATF2 basic leucine zipper transcription factor, ATF-like 2 umls:C0025202 Melanoma 0.210283504570094 2 Biomarker BeFree, CTD_human 581 BAX BCL2-associated X protein umls:C0019693 HIV Infections 0.210283504570094 2 AlteredExpression, Biomarker BeFree, CTD_human 581 BAX BCL2-associated X protein umls:C0079773 Lymphoma, T-Cell, Cutaneous 0.210283504570094 1 Biomarker BeFree, CTD_human 590 BCHE butyrylcholinesterase umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 590 BCHE butyrylcholinesterase umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 590 BCHE butyrylcholinesterase umls:C0017636 Glioblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 590 BCHE butyrylcholinesterase umls:C0027819 Neuroblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 590 BCHE butyrylcholinesterase umls:C0036572 Seizures 0.210283504570094 4 Biomarker, Therapeutic BeFree, CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0021841 Intestinal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0032460 Polycystic Ovary Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 598 BCL2L1 BCL2-like 1 umls:C0023895 Liver Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 54880 BCOR BCL6 corepressor umls:C0029463 Osteosarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 627 BDNF brain-derived neurotrophic factor umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0028756 Obesity, Morbid 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 627 BDNF brain-derived neurotrophic factor umls:C2675904 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 8678 BECN1 beclin 1, autophagy related umls:C0027051 Myocardial Infarction 0.210283504570094 2 Biomarker BeFree, CTD_human 8419 BFSP2 beaded filament structural protein 2, phakinin umls:C1858679 Cataract, Autosomal Dominant 0.210283504570094 1 Biomarker BeFree, CTD_human 50947 BHD Beukes familial hip dysplasia umls:C1840572 Hip Dysplasia, Beukes Type 0.210283504570094 1 Biomarker BeFree, CTD_human 329 BIRC2 baculoviral IAP repeat containing 2 umls:C0023418 Leukemia 0.210283504570094 2 Biomarker BeFree, CTD_human 330 BIRC3 baculoviral IAP repeat containing 3 umls:C0019693 HIV Infections 0.210283504570094 2 Biomarker BeFree, CTD_human 90427 BMF Bcl2 modifying factor umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 648 BMI1 BMI1 proto-oncogene, polycomb ring finger umls:C0029463 Osteosarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 650 BMP2 bone morphogenetic protein 2 umls:C0010278 Craniosynostoses 0.210283504570094 2 Biomarker BeFree, CTD_human 652 BMP4 bone morphogenetic protein 4 umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 652 BMP4 bone morphogenetic protein 4 umls:C0019284 Hernia, Diaphragmatic 0.210283504570094 2 Biomarker BeFree, CTD_human 654 BMP6 bone morphogenetic protein 6 umls:C0018995 Hemochromatosis 0.210283504570094 2 Biomarker BeFree, CTD_human 654 BMP6 bone morphogenetic protein 6 umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 659 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) umls:C0206081 Hyperandrogenism 0.210283504570094 1 Biomarker BeFree, CTD_human 664 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 umls:C0033578 Prostatic Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0010276 Craniopharyngioma 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0022665 Kidney Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 10950 BTG3 BTG family, member 3 umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 701 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 26005 C2CD3 C2 calcium-dependent domain containing 3 umls:C0029294 Orofaciodigital Syndromes 0.210283504570094 1 Biomarker BeFree, CTD_human 728 C5AR1 complement component 5a receptor 1 umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 735 C9 complement component 9 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 760 CA2 carbonic anhydrase II umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 768 CA9 carbonic anhydrase IX umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.210283504570094 1 Biomarker BeFree, CTD_human 772 CACD central areolar choroidal dystrophy umls:C1536451 Choroidal dystrophy central areolar 0.210283504570094 1 Biomarker BeFree, CTD_human 776 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit umls:C0001430 Adenoma 0.210283504570094 3 Biomarker BeFree, CTD_human 9254 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 umls:C0014553 Epilepsy, Absence 0.210283504570094 2 Biomarker BeFree, CTD_human 785 CACNB4 calcium channel, voltage-dependent, beta 4 subunit umls:C0004134 Ataxia 0.210283504570094 1 Biomarker BeFree, CTD_human 785 CACNB4 calcium channel, voltage-dependent, beta 4 subunit umls:C0270850 Epilepsy, Idiopathic Generalized 0.210283504570094 1 Biomarker BeFree, CTD_human 785 CACNB4 calcium channel, voltage-dependent, beta 4 subunit umls:C0270853 Myoclonic Epilepsy, Juvenile 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 799 CALCR calcitonin receptor umls:C0020437 Hypercalcemia 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 801 CALM1 calmodulin 1 (phosphorylase kinase, delta) umls:C0002395 Alzheimer Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 811 CALR calreticulin umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 57172 CAMK1G calcium/calmodulin-dependent protein kinase IG umls:C0002736 Amyotrophic Lateral Sclerosis 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 835 CASP2 caspase 2, apoptosis-related cysteine peptidase umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0026936 Mycoplasma Infections 0.210283504570094 1 Biomarker BeFree, CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 846 CASR calcium-sensing receptor umls:C0270850 Epilepsy, Idiopathic Generalized 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 847 CAT catalase umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 847 CAT catalase umls:C0032927 Precancerous Conditions 0.210283504570094 1 Biomarker BeFree, CTD_human 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0038356 Stomach Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 867 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase umls:C0008073 Developmental Disabilities 0.210283504570094 1 Biomarker BeFree, CTD_human 868 CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase umls:C0014072 Encephalomyelitis, Autoimmune, Experimental 0.210283504570094 1 Biomarker BeFree, CTD_human 873 CBR1 carbonyl reductase 1 umls:C0878544 Cardiomyopathies 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 873 CBR1 carbonyl reductase 1 umls:C0009375 Colonic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 885 CCK cholecystokinin umls:C0003123 Anorexia 0.210283504570094 3 Biomarker BeFree, CTD_human 885 CCK cholecystokinin umls:C0036572 Seizures 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0080178 Spinal Dysraphism 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 6369 CCL24 chemokine (C-C motif) ligand 24 umls:C0011615 Dermatitis, Atopic 0.210283504570094 2 Biomarker BeFree, CTD_human 6352 CCL5 chemokine (C-C motif) ligand 5 umls:C0019187 Hepatitis, Alcoholic 0.210283504570094 2 Biomarker BeFree, CTD_human 6354 CCL7 chemokine (C-C motif) ligand 7 umls:C0032285 Pneumonia 0.210283504570094 2 Biomarker BeFree, CTD_human 6355 CCL8 chemokine (C-C motif) ligand 8 umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 2 Biomarker BeFree, CTD_human 85417 CCNB3 cyclin B3 umls:C0029463 Osteosarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 595 CCND1 cyclin D1 umls:C0021846 Intestinal Polyps 0.210283504570094 2 Biomarker BeFree, CTD_human 595 CCND1 cyclin D1 umls:C0022665 Kidney Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 595 CCND1 cyclin D1 umls:C0030354 Papilloma 0.210283504570094 2 Biomarker BeFree, CTD_human 894 CCND2 cyclin D2 umls:C1863924 Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 1230 CCR1 chemokine (C-C motif) receptor 1 umls:C0004943 Behcet Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 729230 CCR2 chemokine (C-C motif) receptor 2 umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 9034 CCRL2 chemokine (C-C motif) receptor-like 2 umls:C0037274 Skin Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 929 CD14 CD14 molecule umls:C0011991 Diarrhea 0.210283504570094 2 Biomarker BeFree, CTD_human 929 CD14 CD14 molecule umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 930 CD19 CD19 molecule umls:C0001768 Agammaglobulinemia 0.210283504570094 2 Biomarker BeFree, CTD_human 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0007193 Cardiomyopathy, Dilated 0.210283504570094 2 Biomarker BeFree, CTD_human 916 CD3E CD3e molecule, epsilon (CD3-TCR complex) umls:C0021051 Immunologic Deficiency Syndromes 0.210283504570094 2 Biomarker BeFree, CTD_human 958 CD40 CD40 molecule, TNF receptor superfamily member 5 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 959 CD40LG CD40 ligand umls:C0002736 Amyotrophic Lateral Sclerosis 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 959 CD40LG CD40 ligand umls:C0032285 Pneumonia 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 968 CD68 CD68 molecule umls:C0022116 Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 968 CD68 CD68 molecule umls:C0022661 Kidney Failure, Chronic 0.210283504570094 1 Biomarker BeFree, CTD_human 973 CD79A CD79a molecule, immunoglobulin-associated alpha umls:C0001768 Agammaglobulinemia 0.210283504570094 1 Biomarker BeFree, CTD_human 975 CD81 CD81 molecule umls:C0009447 Common Variable Immunodeficiency 0.210283504570094 1 Biomarker BeFree, CTD_human 9308 CD83 CD83 molecule umls:C0037274 Skin Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 10225 CD96 CD96 molecule umls:C0796232 Bohring syndrome 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 981 CDAN3 congenital dyserythropoietic anemia, type III umls:C0002876 Anemia, Dyserythropoietic, Congenital 0.210283504570094 1 Biomarker BeFree, CTD_human 982 CDB2 corneal dystrophy of Bowman layer type II (Thiel-Behnke) umls:C1562894 Corneal dystrophy, Thiel-Behnke type 0.210283504570094 1 Biomarker BeFree, CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C2931456 Prostate cancer, familial 0.210283504570094 2 Biomarker BeFree, CTD_human 10263 CDK2AP2 cyclin-dependent kinase 2 associated protein 2 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 8851 CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) umls:C0006111 Brain Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 6792 CDKL5 cyclin-dependent kinase-like 5 umls:C0162635 Angelman Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0021841 Intestinal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0025500 Mesothelioma 0.210283504570094 2 Biomarker BeFree, CTD_human 1028 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) umls:C0025202 Melanoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0206686 Adrenocortical Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0017601 Glaucoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0040100 Thymoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1051 CEBPB CCAAT/enhancer binding protein (C/EBP), beta umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 1052 CEBPD CCAAT/enhancer binding protein (C/EBP), delta umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 1053 CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon umls:C0023487 Leukemia, Promyelocytic, Acute 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 1055 CECR cat eye syndrome chromosome region umls:C0265493 Schmid-Fraccaro syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 22995 CEP152 centrosomal protein 152kDa umls:C0265202 Seckel syndrome 1 0.210283504570094 1 Biomarker BeFree, CTD_human 9702 CEP57 centrosomal protein 57kDa umls:C1850343 Mosaic variegated aneuploidy syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 55997 CFC1 cripto, FRL-1, cryptic family 1 umls:C0040761 Transposition of Great Vessels 0.210283504570094 1 Biomarker BeFree, CTD_human 1675 CFD complement factor D (adipsin) umls:C0025303 Meningococcal Infections 0.210283504570094 1 Biomarker BeFree, CTD_human 3078 CFHR1 complement factor H-related 1 umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 10878 CFHR3 complement factor H-related 3 umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 1072 CFL1 cofilin 1 (non-muscle) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1072 CFL1 cofilin 1 (non-muscle) umls:C0027627 Neoplasm Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 8837 CFLAR CASP8 and FADD-like apoptosis regulator umls:C1955906 Lymphoma, Extranodal NK-T-Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 8837 CFLAR CASP8 and FADD-like apoptosis regulator umls:C0030297 Pancreatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 93659 CGB5 chorionic gonadotropin, beta polypeptide 5 umls:C0032460 Polycystic Ovary Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 84181 CHD6 chromodomain helicase DNA binding protein 6 umls:C0007138 Carcinoma, Transitional Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 8197 CHED1 corneal endothelial dystrophy 1 (autosomal dominant) umls:C1852555 CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 0.210283504570094 1 Biomarker BeFree, CTD_human 11200 CHEK2 checkpoint kinase 2 umls:C0027819 Neuroblastoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1119 CHKA choline kinase alpha umls:C0080178 Spinal Dysraphism 0.210283504570094 1 Biomarker BeFree, CTD_human 10752 CHL1 cell adhesion molecule L1-like umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 780915 CHNG3 Hypothyroidism, congenital, nongoitrous, 3 umls:C2940785 Hypothyroidism, Congenital, Nongoitrous, 3 0.210283504570094 1 Biomarker BeFree, CTD_human 1131 CHRM3 cholinergic receptor, muscarinic 3 umls:C0005686 Urinary Bladder Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 10370 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 umls:C0018816 Heart Septal Defects 0.210283504570094 1 Biomarker BeFree, CTD_human 10370 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 umls:C0026846 Muscular Atrophy 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 25792 CIZ1 CDKN1A interacting zinc finger protein 1 umls:C1865819 Cervical Dystonia, Primary 0.210283504570094 1 Biomarker BeFree, CTD_human 25792 CIZ1 CDKN1A interacting zinc finger protein 1 umls:C0553580 Sarcoma, Ewing 0.210283504570094 1 Biomarker BeFree, CTD_human 1152 CKB creatine kinase, brain umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1152 CKB creatine kinase, brain umls:C0149925 Small Cell Lung Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 9075 CLDN2 claudin 2 umls:C0030305 Pancreatitis 0.210283504570094 1 Biomarker BeFree, CTD_human 160364 CLEC12A C-type lectin domain family 12, member A umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 2 Biomarker BeFree, CTD_human 1213 CLTC clathrin, heavy chain (Hc) umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 1215 CMA1 chymase 1, mast cell umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 4849 CNOT3 CCR4-NOT transcription complex, subunit 3 umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0035412 Rhabdomyosarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1269 CNR2 cannabinoid receptor 2 (macrophage) umls:C0020429 Hyperalgesia 0.210283504570094 3 Biomarker, Therapeutic BeFree, CTD_human 1269 CNR2 cannabinoid receptor 2 (macrophage) umls:C0023890 Liver Cirrhosis 0.210283504570094 2 Biomarker BeFree, CTD_human 26047 CNTNAP2 contactin associated protein-like 2 umls:C0038506 Stuttering 0.210283504570094 1 Biomarker BeFree, CTD_human 1301 COL11A1 collagen, type XI, alpha 1 umls:C0017605 Glaucoma, Angle-Closure 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 1278 COL1A2 collagen, type I, alpha 2 umls:C0029408 Osteoarthritis 0.210283504570094 2 Biomarker BeFree, CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0003864 Arthritis 0.210283504570094 2 Biomarker BeFree, CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0086543 Cataract 0.210283504570094 1 Biomarker BeFree, CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0008479 Chondrosarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C1855310 Megaepiphyseal dwarfism 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0020456 Hyperglycemia 0.210283504570094 1 Biomarker BeFree, CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0023895 Liver Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 1282 COL4A1 collagen, type IV, alpha 1 umls:C0011881 Diabetic Nephropathies 0.210283504570094 2 Biomarker BeFree, CTD_human 1288 COL4A6 collagen, type IV, alpha 6 umls:C1839884 Leiomyomatosis, esophageal and vulval, with nephropathy 0.210283504570094 1 Biomarker BeFree, CTD_human 1312 COMT catechol-O-methyltransferase umls:C0031511 Pheochromocytoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1319 CORD1 cone rod dystrophy 1 (autosomal dominant) umls:C1833564 Cone-Rod Dystrophy 1 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 11151 CORO1A coronin, actin binding protein, 1A umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0022116 Ischemia 0.210283504570094 3 Biomarker BeFree, CTD_human 1357 CPA1 carboxypeptidase A1 (pancreatic) umls:C0149521 Pancreatitis, Chronic 0.210283504570094 1 Biomarker BeFree, CTD_human 60502 CPAT1 cerebral palsy, ataxic 1 umls:C3496054 Cerebral Palsy, Ataxic, Autosomal Recessive 0.210283504570094 1 Biomarker BeFree, CTD_human 10815 CPLX1 complexin 1 umls:C0005586 Bipolar Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 10814 CPLX2 complexin 2 umls:C0005586 Bipolar Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 1374 CPT1A carnitine palmitoyltransferase 1A (liver) umls:C0011849 Diabetes Mellitus 0.210283504570094 2 Biomarker BeFree, CTD_human 1381 CRABP1 cellular retinoic acid binding protein 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1387 CREBBP CREB binding protein umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1387 CREBBP CREB binding protein umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1392 CRH corticotropin releasing hormone umls:C0002395 Alzheimer Disease 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 1392 CRH corticotropin releasing hormone umls:C0010481 Cushing Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 1392 CRH corticotropin releasing hormone umls:C0036572 Seizures 0.210283504570094 7 Biomarker BeFree, CTD_human 10321 CRISP3 cysteine-rich secretory protein 3 umls:C0032987 Pregnancy, Ectopic 0.210283504570094 1 Biomarker BeFree, CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0011884 Diabetic Retinopathy 0.210283504570094 2 Biomarker BeFree, CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0025289 Meningitis 0.210283504570094 2 Biomarker BeFree, CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0027059 Myocarditis 0.210283504570094 2 Biomarker BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0023290 Leishmaniasis, Visceral 0.210283504570094 2 Biomarker BeFree, CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0014859 Esophageal Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0024305 Lymphoma, Non-Hodgkin 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0030193 Pain 0.210283504570094 4 Biomarker BeFree, CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0030312 Pancytopenia 0.210283504570094 3 Biomarker, Therapeutic BeFree, CTD_human 1445 CSK c-src tyrosine kinase umls:C0024141 Lupus Erythematosus, Systemic 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 114788 CSMD3 CUB and Sushi multiple domains 3 umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 1457 CSNK2A1 casein kinase 2, alpha 1 polypeptide umls:C0007137 Carcinoma, Squamous Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 1469 CST1 cystatin SN umls:C0018621 Rhinitis, Allergic, Seasonal 0.210283504570094 1 Biomarker BeFree, CTD_human 1471 CST3 cystatin C umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 2 Biomarker BeFree, CTD_human 1474 CST6 cystatin E/M umls:C0033578 Prostatic Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 1475 CSTA cystatin A (stefin A) umls:C2931822 Nasopharyngeal carcinoma 0.210283504570094 1 Biomarker BeFree, CTD_human 80169 CTC1 CTS telomere maintenance complex component 1 umls:C0154832 Retinal Telangiectasis 0.210283504570094 2 Biomarker BeFree, CTD_human 1490 CTGF connective tissue growth factor umls:C0017668 Glomerulosclerosis, Focal Segmental 0.210283504570094 2 Biomarker BeFree, CTD_human 1490 CTGF connective tissue growth factor umls:C0020538 Hypertension 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0001624 Adrenal Gland Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0007873 Uterine Cervical Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1509 CTSD cathepsin D umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 2 Biomarker BeFree, CTD_human 1509 CTSD cathepsin D umls:C0029408 Osteoarthritis 0.210283504570094 2 Biomarker BeFree, CTD_human 8065 CUL5 cullin 5 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 2919 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) umls:C0032285 Pneumonia 0.210283504570094 2 Biomarker BeFree, CTD_human 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0002171 Alopecia Areata 0.210283504570094 2 Biomarker BeFree, CTD_human 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C0266929 Chronic Periodontitis 0.210283504570094 2 Biomarker BeFree, CTD_human 9547 CXCL14 chemokine (C-X-C motif) ligand 14 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 9547 CXCL14 chemokine (C-X-C motif) ligand 14 umls:C0024121 Lung Neoplasms 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 2921 CXCL3 chemokine (C-X-C motif) ligand 3 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 6374 CXCL5 chemokine (C-X-C motif) ligand 5 umls:C0032285 Pneumonia 0.210283504570094 2 Biomarker BeFree, CTD_human 6372 CXCL6 chemokine (C-X-C motif) ligand 6 umls:C0029408 Osteoarthritis 0.210283504570094 1 Biomarker BeFree, CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0015695 Fatty Liver 0.210283504570094 2 Biomarker BeFree, CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0034069 Pulmonary Fibrosis 0.210283504570094 3 Biomarker BeFree, CTD_human 4283 CXCL9 chemokine (C-X-C motif) ligand 9 umls:C0002171 Alopecia Areata 0.210283504570094 2 Biomarker BeFree, CTD_human 2833 CXCR3 chemokine (C-X-C motif) receptor 3 umls:C0011615 Dermatitis, Atopic 0.210283504570094 2 Biomarker BeFree, CTD_human 2833 CXCR3 chemokine (C-X-C motif) receptor 3 umls:C0032285 Pneumonia 0.210283504570094 2 Biomarker BeFree, CTD_human 79742 CXorf36 chromosome X open reading frame 36 umls:C1136249 Mental Retardation, X-Linked 0.210283504570094 1 Biomarker BeFree, CTD_human 1536 CYBB cytochrome b-245, beta polypeptide umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 1536 CYBB cytochrome b-245, beta polypeptide umls:C0022658 Kidney Diseases 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 1540 CYLD cylindromatosis (turban tumor syndrome) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker BeFree, CTD_human 1583 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 umls:C2751824 46, XY Disorders of Sex Development 0.210283504570094 2 Biomarker BeFree, CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0002453 Amenorrhea 0.210283504570094 2 Biomarker BeFree, CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0020619 Hypogonadism 0.210283504570094 2 Biomarker BeFree, CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0021364 Infertility, Male 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0020619 Hypogonadism 0.210283504570094 2 Biomarker BeFree, CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0242341 Sexual Infantilism 0.210283504570094 1 Biomarker BeFree, CTD_human 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0018552 Hamartoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0025202 Melanoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.210283504570094 2 Biomarker BeFree, CTD_human 1592 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 umls:C0001418 Adenocarcinoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1592 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 umls:C0032580 Adenomatous Polyposis Coli 0.210283504570094 1 Biomarker BeFree, CTD_human 1592 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 umls:C0009375 Colonic Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 1593 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 umls:C0008370 Cholestasis 0.210283504570094 1 Biomarker BeFree, CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0262584 Carcinoma, Small Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0019196 Hepatitis C 0.210283504570094 2 Biomarker BeFree, CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0034067 Pulmonary Emphysema 0.210283504570094 1 Biomarker BeFree, CTD_human 1557 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 umls:C0022661 Kidney Failure, Chronic 0.210283504570094 1 Biomarker BeFree, CTD_human 1558 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 umls:C0022658 Kidney Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C0006118 Brain Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 29785 CYP2S1 cytochrome P450, family 2, subfamily S, polypeptide 1 umls:C0033860 Psoriasis 0.210283504570094 1 Biomarker BeFree, CTD_human 9420 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 umls:C0001418 Adenocarcinoma 0.210283504570094 1 Biomarker BeFree, CTD_human 9420 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 umls:C0023895 Liver Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 57105 CYSLTR2 cysteinyl leukotriene receptor 2 umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 1605 DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) umls:C0023092 Lassa Fever 0.210283504570094 2 Biomarker BeFree, CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.210283504570094 2 Biomarker BeFree, CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0036095 Salivary Gland Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1616 DAXX death-domain associated protein umls:C0206754 Neuroendocrine Tumors 0.210283504570094 2 Biomarker BeFree, CTD_human 1616 DAXX death-domain associated protein umls:C0030297 Pancreatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 51163 DBR1 debranching RNA lariats 1 umls:C0002736 Amyotrophic Lateral Sclerosis 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 117159 DCD dermcidin umls:C0023903 Liver Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 51164 DCTN4 dynactin 4 (p62) umls:C0010674 Cystic Fibrosis 0.210283504570094 1 Biomarker BeFree, CTD_human 1649 DDIT3 DNA-damage-inducible transcript 3 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 54541 DDIT4 DNA-damage-inducible transcript 4 umls:C0023418 Leukemia 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 780 DDR1 discoidin domain receptor tyrosine kinase 1 umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 780 DDR1 discoidin domain receptor tyrosine kinase 1 umls:C0024121 Lung Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 10522 DEAF1 DEAF1 transcription factor umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 1670 DEFA5 defensin, alpha 5, Paneth cell-specific umls:C0009324 Colitis, Ulcerative 0.210283504570094 2 Biomarker BeFree, CTD_human 1670 DEFA5 defensin, alpha 5, Paneth cell-specific umls:C0009375 Colonic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1719 DHFR dihydrofolate reductase umls:C0002888 Anemia, Megaloblastic 0.210283504570094 2 Biomarker BeFree, CTD_human 1719 DHFR dihydrofolate reductase umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1719 DHFR dihydrofolate reductase umls:C0027765 Nervous System Diseases 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 23405 DICER1 dicer 1, ribonuclease type III umls:C0014175 Endometriosis 0.210283504570094 1 Biomarker BeFree, CTD_human 10395 DLC1 DLC1 Rho GTPase activating protein umls:C0919267 Ovarian Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 9940 DLEC1 deleted in lung and esophageal cancer 1 umls:C0024121 Lung Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 8847 DLEU2 deleted in lymphocytic leukemia 2 (non-protein coding) umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 2 Biomarker BeFree, CTD_human 10683 DLL3 delta-like 3 (Drosophila) umls:C0036439 Scoliosis 0.210283504570094 2 Biomarker BeFree, CTD_human 1749 DLX5 distal-less homeobox 5 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 4 Biomarker BeFree, CTD_human 1750 DLX6 distal-less homeobox 6 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 2 Biomarker BeFree, CTD_human 1756 DMD dystrophin umls:C0238198 Gastrointestinal Stromal Tumors 0.210283504570094 1 Biomarker BeFree, CTD_human 1756 DMD dystrophin umls:C0206656 Rhabdomyosarcoma, Embryonal 0.210283504570094 2 Biomarker BeFree, CTD_human 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0282612 Prostatic Intraepithelial Neoplasia 0.210283504570094 2 Biomarker BeFree, CTD_human 1788 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha umls:C3714756 Intellectual Disability 0.210283504570094 1 Biomarker BeFree, CTD_human 1788 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha umls:C0023465 Leukemia, Monocytic, Acute 0.210283504570094 1 Biomarker BeFree, CTD_human 81704 DOCK8 dedicator of cytokinesis 8 umls:C0008073 Developmental Disabilities 0.210283504570094 1 Biomarker BeFree, CTD_human 9046 DOK2 docking protein 2, 56kDa umls:C0024121 Lung Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 79930 DOK3 docking protein 3 umls:C0024121 Lung Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 285489 DOK7 docking protein 7 umls:C1276035 Pena Shokeir syndrome, type 1 0.210283504570094 1 Biomarker BeFree, CTD_human 135656 DPCR1 diffuse panbronchiolitis critical region 1 umls:C0878555 Diffuse panbronchiolitis 0.210283504570094 2 Biomarker BeFree, CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0027765 Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 92749 DRC1 dynein regulatory complex subunit 1 umls:C0022521 Kartagener Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 1812 DRD1 dopamine receptor D1 umls:C0036572 Seizures 0.210283504570094 3 Biomarker, GeneticVariation BeFree, CTD_human 1813 DRD2 dopamine receptor D2 umls:C0023015 Language Disorders 0.210283504570094 1 Biomarker BeFree, CTD_human 1813 DRD2 dopamine receptor D2 umls:C0036572 Seizures 0.210283504570094 4 Biomarker, GeneticVariation, Therapeutic BeFree, CTD_human 1816 DRD5 dopamine receptor D5 umls:C0033975 Psychotic Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 1828 DSG1 desmoglein 1 umls:C0011603 Dermatitis 0.210283504570094 1 Biomarker BeFree, CTD_human 100301525 DUH2 Dyschromatosis universalis hereditaria 2 umls:C2675183 Dyschromatosis Universalis Hereditaria 2 0.210283504570094 1 Biomarker BeFree, CTD_human 10674 DURS1 Duane retraction syndrome 1 umls:C0013261 Duane Retraction Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 1848 DUSP6 dual specificity phosphatase 6 umls:C0017636 Glioblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 1778 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 1778 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 umls:C1955869 Malformations of Cortical Development 0.210283504570094 2 Biomarker BeFree, CTD_human 1780 DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 79659 DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 umls:C0036996 Short Rib-Polydactyly Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 161582 DYX1C1 dyslexia susceptibility 1 candidate 1 umls:C0021364 Infertility, Male 0.210283504570094 1 Biomarker BeFree, CTD_human 161582 DYX1C1 dyslexia susceptibility 1 candidate 1 umls:C0022521 Kartagener Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 171089 DYX5 dyslexia susceptibility 5 umls:C0476254 Dyslexia 0.210283504570094 1 Biomarker BeFree, CTD_human 1889 ECE1 endothelin converting enzyme 1 umls:C0018798 Heart Defects, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 1889 ECE1 endothelin converting enzyme 1 umls:C0019569 Hirschsprung Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 1889 ECE1 endothelin converting enzyme 1 umls:C0085580 Hypertension, Essential 0.210283504570094 1 Biomarker BeFree, CTD_human 10085 EDIL3 EGF-like repeats and discoidin I-like domains 3 umls:C0029408 Osteoarthritis 0.210283504570094 2 Biomarker BeFree, CTD_human 1906 EDN1 endothelin 1 umls:C0878544 Cardiomyopathies 0.210283504570094 2 Biomarker BeFree, CTD_human 1906 EDN1 endothelin 1 umls:C0020429 Hyperalgesia 0.210283504570094 2 Biomarker BeFree, CTD_human 1908 EDN3 endothelin 3 umls:C1275808 Congenital central hypoventilation syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 1909 EDNRA endothelin receptor type A umls:C0018798 Heart Defects, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 1910 EDNRB endothelin receptor type B umls:C1838099 ABCD syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 2202 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 30008 EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1948 EFNB2 ephrin-B2 umls:C0023903 Liver Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1950 EGF epidermal growth factor umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 1956 EGFR epidermal growth factor receptor umls:C0263454 Chloracne 0.210283504570094 1 Biomarker BeFree, CTD_human 1956 EGFR epidermal growth factor receptor umls:C0011860 Diabetes Mellitus, Type 2 0.210283504570094 2 Biomarker BeFree, CTD_human 1956 EGFR epidermal growth factor receptor umls:C0085548 Polycystic Kidney, Autosomal Recessive 0.210283504570094 2 Biomarker BeFree, CTD_human 1958 EGR1 early growth response 1 umls:C0008370 Cholestasis 0.210283504570094 2 Biomarker BeFree, CTD_human 440275 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 umls:C0020542 Hypertension, Pulmonary 0.210283504570094 1 Biomarker BeFree, CTD_human 440275 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 umls:C0034091 Pulmonary Veno-Occlusive Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 1965 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa umls:C0029463 Osteosarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 8667 EIF3H eukaryotic translation initiation factor 3, subunit H umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 1 Biomarker BeFree, CTD_human 1977 EIF4E eukaryotic translation initiation factor 4E umls:C0334634 Lymphoma, Mantle-Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 1978 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 umls:C0022665 Kidney Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 3692 EIF6 eukaryotic translation initiation factor 6 umls:C1458155 Breast Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 9844 ELMO1 engulfment and cell motility 1 umls:C0279628 Adenocarcinoma Of Esophagus 0.210283504570094 1 Biomarker BeFree, CTD_human 2006 ELN elastin umls:C0019284 Hernia, Diaphragmatic 0.210283504570094 2 Biomarker BeFree, CTD_human 2006 ELN elastin umls:C0151744 Myocardial Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 27436 EML4 echinoderm microtubule associated protein like 4 umls:C0027627 Neoplasm Metastasis 0.210283504570094 3 Biomarker BeFree, CTD_human 100188863 ENDO1 Endometriosis, susceptibility to, 1 umls:C0014175 Endometriosis 0.210283504570094 1 Biomarker BeFree, CTD_human 2023 ENO1 enolase 1, (alpha) umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0007137 Carcinoma, Squamous Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0029408 Osteoarthritis 0.210283504570094 2 Biomarker BeFree, CTD_human 2033 EP300 E1A binding protein p300 umls:C0007138 Carcinoma, Transitional Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 4072 EPCAM epithelial cell adhesion molecule umls:C0030297 Pancreatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 1969 EPHA2 EPH receptor A2 umls:C0175704 LEOPARD Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 1969 EPHA2 EPH receptor A2 umls:C0028326 Noonan Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 2050 EPHB4 EPH receptor B4 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2053 EPHX2 epoxide hydrolase 2, cytoplasmic umls:C0018801 Heart Failure 0.210283504570094 1 Biomarker BeFree, CTD_human 2056 EPO erythropoietin umls:C0007682 Central Nervous System Diseases 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 2056 EPO erythropoietin umls:C0015672 Fatigue 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 2056 EPO erythropoietin umls:C0524851 Neurodegenerative Diseases 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 2056 EPO erythropoietin umls:C0030312 Pancytopenia 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0017185 Gastrointestinal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2067 ERCC1 excision repair cross-complementation group 1 umls:C0007873 Uterine Cervical Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2068 ERCC2 excision repair cross-complementation group 2 umls:C0037268 Skin Abnormalities 0.210283504570094 2 Biomarker BeFree, CTD_human 2073 ERCC5 excision repair cross-complementation group 5 umls:C0220722 Cerebrooculofacioskeletal Syndrome 1 0.210283504570094 1 Biomarker BeFree, CTD_human 11160 ERLIN2 ER lipid raft associated 2 umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 2138 EYA1 EYA transcriptional coactivator and phosphatase 1 umls:C0431406 Cayler cardiofacial syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 2138 EYA1 EYA transcriptional coactivator and phosphatase 1 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 1 Biomarker BeFree, CTD_human 2138 EYA1 EYA transcriptional coactivator and phosphatase 1 umls:C0018777 Hearing Loss, Conductive 0.210283504570094 1 Biomarker BeFree, CTD_human 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C0029463 Osteosarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C0001815 Primary Myelofibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 2161 F12 coagulation factor XII (Hageman factor) umls:C0040038 Thromboembolism 0.210283504570094 2 Biomarker BeFree, CTD_human 2165 F13B coagulation factor XIII, B polypeptide umls:C0015530 Factor XIII Deficiency 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 2157 F8 coagulation factor VIII, procoagulant component umls:C0004364 Autoimmune Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 2187 FANCB Fanconi anemia, complementation group B umls:C2931228 VACTERL association with hydrocephaly, X-linked 0.210283504570094 1 Biomarker BeFree, CTD_human 9855 FARP2 FERM, RhoGEF and pleckstrin domain protein 2 umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 355 FAS Fas cell surface death receptor umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 355 FAS Fas cell surface death receptor umls:C0005695 Urinary Bladder Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0019158 Hepatitis 0.210283504570094 2 Biomarker BeFree, CTD_human 2194 FASN fatty acid synthase umls:C0919267 Ovarian Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2195 FAT1 FAT atypical cadherin 1 umls:C0017636 Glioblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 79633 FAT4 FAT atypical cadherin 4 umls:C0038356 Stomach Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 79633 FAT4 FAT atypical cadherin 4 umls:C1832390 Van Maldergem Wetzburger Verloes syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 2091 FBL fibrillarin umls:C0004364 Autoimmune Diseases 0.210283504570094 4 Biomarker BeFree, CTD_human 2200 FBN1 fibrillin 1 umls:C0020456 Hyperglycemia 0.210283504570094 1 Biomarker BeFree, CTD_human 2200 FBN1 fibrillin 1 umls:C0020459 Hyperinsulinism 0.210283504570094 1 Biomarker BeFree, CTD_human 2203 FBP1 fructose-1,6-bisphosphatase 1 umls:C0009375 Colonic Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 55294 FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 2208 FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) umls:C0014038 Encephalitis 0.210283504570094 1 Biomarker BeFree, CTD_human 2245 FGD1 FYVE, RhoGEF and PH domain containing 1 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 2246 FGF1 fibroblast growth factor 1 (acidic) umls:C0023418 Leukemia 0.210283504570094 2 Biomarker BeFree, CTD_human 2246 FGF1 fibroblast growth factor 1 (acidic) umls:C0025500 Mesothelioma 0.210283504570094 2 Biomarker BeFree, CTD_human 2246 FGF1 fibroblast growth factor 1 (acidic) umls:C0151744 Myocardial Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 2246 FGF1 fibroblast growth factor 1 (acidic) umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 2255 FGF10 fibroblast growth factor 10 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0011581 Depressive Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0085207 Diabetes, Gestational 0.210283504570094 2 Biomarker BeFree, CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0151744 Myocardial Ischemia 0.210283504570094 3 Biomarker, Therapeutic BeFree, CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0036572 Seizures 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 2252 FGF7 fibroblast growth factor 7 umls:C0034069 Pulmonary Fibrosis 0.210283504570094 1 Biomarker BeFree, CTD_human 2253 FGF8 fibroblast growth factor 8 (androgen-induced) umls:C2936346 22q11 Deletion Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 2254 FGF9 fibroblast growth factor 9 umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 26127 FGFR1OP2 FGFR1 oncogene partner 2 umls:C0027022 Myeloproliferative Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0036631 Seminoma 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 53834 FGFRL1 fibroblast growth factor receptor-like 1 umls:C0235833 Hernias, Diaphragmatic, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 93985 FGS3 FG syndrome 3 umls:C0220769 Opitz-Kaveggia syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 2271 FH fumarate hydratase umls:C2936826 Fumaric aciduria 0.210283504570094 1 Biomarker BeFree, CTD_human 2274 FHL2 four and a half LIM domains 2 umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 2 Biomarker BeFree, CTD_human 2289 FKBP5 FK506 binding protein 5 umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 2 Biomarker BeFree, CTD_human 201163 FLCN folliculin umls:C0346255 Oncocytoma, renal 0.210283504570094 2 Biomarker BeFree, CTD_human 2316 FLNA filamin A, alpha umls:C0220769 Opitz-Kaveggia syndrome 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 2317 FLNB filamin B, beta umls:C2931648 Larsen syndrome, dominant type 0.210283504570094 2 Biomarker BeFree, CTD_human 2321 FLT1 fms-related tyrosine kinase 1 umls:C0023890 Liver Cirrhosis 0.210283504570094 2 Biomarker BeFree, CTD_human 2326 FMO1 flavin containing monooxygenase 1 umls:C1862941 Amyotrophic Lateral Sclerosis, Sporadic 0.210283504570094 1 Biomarker BeFree, CTD_human 2332 FMR1 fragile X mental retardation 1 umls:C2749127 Primary Ovarian Insufficiency, Fragile X-Associated 0.210283504570094 2 Biomarker BeFree, CTD_human 2335 FN1 fibronectin 1 umls:C0003504 Aortic Valve Insufficiency 0.210283504570094 2 Biomarker BeFree, CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0000768 Congenital Abnormalities 0.210283504570094 2 Biomarker BeFree, CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0029463 Osteosarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0003469 Anxiety Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 3169 FOXA1 forkhead box A1 umls:C0015695 Fatty Liver 0.210283504570094 2 Biomarker BeFree, CTD_human 2302 FOXJ1 forkhead box J1 umls:C2607914 Rhinitis, Allergic 0.210283504570094 1 Biomarker BeFree, CTD_human 2305 FOXM1 forkhead box M1 umls:C0023418 Leukemia 0.210283504570094 2 Biomarker BeFree, CTD_human 93986 FOXP2 forkhead box P2 umls:C0175693 Silver-Russell Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 55572 FOXRED1 FAD-dependent oxidoreductase domain containing 1 umls:C0751651 Mitochondrial Diseases 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 2358 FPR2 formyl peptide receptor 2 umls:C0010346 Crohn Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 80144 FRAS1 Fraser extracellular matrix complex subunit 1 umls:C0024433 Macrostomia 0.210283504570094 1 Biomarker BeFree, CTD_human 158326 FREM1 FRAS1 related extracellular matrix 1 umls:C0221363 Bifid nose 0.210283504570094 2 Biomarker BeFree, CTD_human 158326 FREM1 FRAS1 related extracellular matrix 1 umls:C1609433 Hereditary renal agenesis 0.210283504570094 2 Biomarker BeFree, CTD_human 2488 FSHB follicle stimulating hormone, beta polypeptide umls:C0028960 Oligospermia 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 10468 FST follistatin umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5045 FURIN furin (paired basic amino acid cleaving enzyme) umls:C0007097 Carcinoma 0.210283504570094 3 Biomarker BeFree, CTD_human 2534 FYN FYN proto-oncogene, Src family tyrosine kinase umls:C0079774 Lymphoma, T-Cell, Peripheral 0.210283504570094 1 Biomarker BeFree, CTD_human 2539 G6PD glucose-6-phosphate dehydrogenase umls:C0018203 Granulomatous Disease, Chronic 0.210283504570094 2 Biomarker BeFree, CTD_human 2548 GAA glucosidase, alpha; acid umls:C0007194 Cardiomyopathy, Hypertrophic 0.210283504570094 2 Biomarker BeFree, CTD_human 2549 GAB1 GRB2-associated binding protein 1 umls:C0032460 Polycystic Ovary Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 2550 GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 9568 GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 2555 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 umls:C0003469 Anxiety Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 2572 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) umls:C0036572 Seizures 0.210283504570094 3 Biomarker BeFree, CTD_human 2621 GAS6 growth arrest-specific 6 umls:C0011881 Diabetic Nephropathies 0.210283504570094 2 Biomarker BeFree, CTD_human 2621 GAS6 growth arrest-specific 6 umls:C0040038 Thromboembolism 0.210283504570094 1 Biomarker BeFree, CTD_human 8522 GAS7 growth arrest-specific 7 umls:C0028754 Obesity 0.210283504570094 1 Biomarker BeFree, CTD_human 2623 GATA1 GATA binding protein 1 (globin transcription factor 1) umls:C1860788 Transient Myeloproliferative Disorder of Down Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 2628 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) umls:C0018801 Heart Failure 0.210283504570094 1 Biomarker BeFree, CTD_human 2629 GBA glucosidase, beta, acid umls:C0020542 Hypertension, Pulmonary 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 2641 GCG glucagon umls:C0009319 Colitis 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 2641 GCG glucagon umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 2657 GDF1 growth differentiation factor 1 umls:C0013069 Double Outlet Right Ventricle 0.210283504570094 2 Biomarker BeFree, CTD_human 2657 GDF1 growth differentiation factor 1 umls:C0040761 Transposition of Great Vessels 0.210283504570094 1 Biomarker BeFree, CTD_human 9518 GDF15 growth differentiation factor 15 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 9518 GDF15 growth differentiation factor 15 umls:C1956346 Coronary Artery Disease 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 2658 GDF2 growth differentiation factor 2 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0014474 Ependymoma 0.210283504570094 2 Biomarker BeFree, CTD_human 59330 GER Gastroesophageal reflux umls:C0017168 Gastroesophageal Reflux 0.210283504570094 1 Biomarker BeFree, CTD_human 2670 GFAP glial fibrillary acidic protein umls:C0752347 Lewy Body Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 2671 GFER growth factor, augmenter of liver regeneration umls:C0162557 Liver Failure, Acute 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 2678 GGT1 gamma-glutamyltransferase 1 umls:C0001973 Alcoholism 0.210283504570094 2 Biomarker BeFree, CTD_human 2678 GGT1 gamma-glutamyltransferase 1 umls:C0031099 Periodontitis 0.210283504570094 2 Biomarker BeFree, CTD_human 2678 GGT1 gamma-glutamyltransferase 1 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 64644 GINGF2 gingival fibromatosis, hereditary, 2 umls:C0399440 Fibromatosis, Gingival, Type 1 0.210283504570094 1 Biomarker BeFree, CTD_human 2703 GJA8 gap junction protein, alpha 8, 50kDa umls:C1861829 Cataract microcornea syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 57369 GJD2 gap junction protein, delta 2, 36kDa umls:C0034951 Refractive Errors 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 100126572 GJE1 gap junction protein, epsilon 1, 23kDa umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 2717 GLA galactosidase, alpha umls:C0002985 Angiokeratoma 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 2720 GLB1 galactosidase, beta 1 umls:C0026707 Mucopolysaccharidosis IV 0.210283504570094 3 Biomarker BeFree, CTD_human 777643 GLC1M glaucoma 1, open angle, M (juvenile-onset) umls:C1864653 Glaucoma 1, Open Angle, M 0.210283504570094 1 Biomarker BeFree, CTD_human 2737 GLI3 GLI family zinc finger 3 umls:C0162835 Hypopigmentation 0.210283504570094 1 Biomarker BeFree, CTD_human 2739 GLO1 glyoxalase I umls:C0025202 Melanoma 0.210283504570094 1 Biomarker BeFree, CTD_human 2767 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) umls:C0018798 Heart Defects, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 2776 GNAQ guanine nucleotide binding protein (G protein), q polypeptide umls:C0235752 Port-Wine Stain 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 2778 GNAS GNAS complex locus umls:C0001624 Adrenal Gland Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2778 GNAS GNAS complex locus umls:C0032460 Polycystic Ovary Syndrome 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 27232 GNMT glycine N-methyltransferase umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 10243 GPHN gephyrin umls:C0268119 Molybdenum cofactor deficiency 0.210283504570094 1 Biomarker BeFree, CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0020456 Hyperglycemia 0.210283504570094 2 Biomarker BeFree, CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0020459 Hyperinsulinism 0.210283504570094 3 Biomarker BeFree, CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0028754 Obesity 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0029456 Osteoporosis 0.210283504570094 2 Biomarker BeFree, CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 2877 GPX2 glutathione peroxidase 2 (gastrointestinal) umls:C0027627 Neoplasm Metastasis 0.210283504570094 1 Biomarker BeFree, CTD_human 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0023903 Liver Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2879 GPX4 glutathione peroxidase 4 umls:C0021364 Infertility, Male 0.210283504570094 3 Biomarker BeFree, CTD_human 50976 GRD2 Graves disease, susceptibility to, 2 umls:C0018213 Graves Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 26585 GREM1 gremlin 1, DAN family BMP antagonist umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 26585 GREM1 gremlin 1, DAN family BMP antagonist umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 2890 GRIA1 glutamate receptor, ionotropic, AMPA 1 umls:C0038587 Substance Withdrawal Syndrome 0.210283504570094 3 Biomarker BeFree, CTD_human 2891 GRIA2 glutamate receptor, ionotropic, AMPA 2 umls:C0038220 Status Epilepticus 0.210283504570094 2 Biomarker BeFree, CTD_human 2898 GRIK2 glutamate receptor, ionotropic, kainate 2 umls:C0005586 Bipolar Disorder 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0282512 Landau-Kleffner Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 2870 GRK6 G protein-coupled receptor kinase 6 umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 1 Biomarker BeFree, CTD_human 2912 GRM2 glutamate receptor, metabotropic 2 umls:C0014556 Epilepsy, Temporal Lobe 0.210283504570094 2 Biomarker BeFree, CTD_human 2913 GRM3 glutamate receptor, metabotropic 3 umls:C0025202 Melanoma 0.210283504570094 2 Biomarker BeFree, CTD_human 2914 GRM4 glutamate receptor, metabotropic 4 umls:C0029463 Osteosarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 2918 GRM8 glutamate receptor, metabotropic 8 umls:C0003469 Anxiety Disorders 0.210283504570094 1 Biomarker BeFree, CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C0011581 Depressive Disorder 0.210283504570094 3 Biomarker, GeneticVariation BeFree, CTD_human 2938 GSTA1 glutathione S-transferase alpha 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 2944 GSTM1 glutathione S-transferase mu 1 umls:C0263454 Chloracne 0.210283504570094 2 Biomarker BeFree, CTD_human 2944 GSTM1 glutathione S-transferase mu 1 umls:C0524851 Neurodegenerative Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 2946 GSTM2 glutathione S-transferase mu 2 (muscle) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker BeFree, CTD_human 9446 GSTO1 glutathione S-transferase omega 1 umls:C0024115 Lung Diseases 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 9446 GSTO1 glutathione S-transferase omega 1 umls:C0524851 Neurodegenerative Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0032927 Precancerous Conditions 0.210283504570094 6 Biomarker BeFree, CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C1261473 Sarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 9569 GTF2IRD1 GTF2I repeat domain containing 1 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 1 Biomarker BeFree, CTD_human 3000 GUCY2D guanylate cyclase 2D, membrane (retina-specific) umls:C1832976 Cone-Rod Dystrophy 5 0.210283504570094 1 Biomarker BeFree, CTD_human 2993 GYPA glycophorin A (MNS blood group) umls:C0037286 Skin Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 3002 GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 3002 GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) umls:C0019158 Hepatitis 0.210283504570094 2 Biomarker BeFree, CTD_human 3026 HABP2 hyaluronan binding protein 2 umls:C0398623 Thrombophilia 0.210283504570094 1 Biomarker BeFree, CTD_human 3054 HCFC1 host cell factor C1 umls:C0023903 Liver Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 3065 HDAC1 histone deacetylase 1 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 3066 HDAC2 histone deacetylase 2 umls:C0023470 Leukemia, Myeloid 0.210283504570094 1 Biomarker BeFree, CTD_human 9759 HDAC4 histone deacetylase 4 umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 10013 HDAC6 histone deacetylase 6 umls:C0025202 Melanoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3069 HDLBP high density lipoprotein binding protein umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 7909 HEMC hemangioma, capillary, hereditary umls:C1865871 Hemangioma, capillary infantile 0.210283504570094 1 Biomarker BeFree, CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0024121 Lung Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 8820 HESX1 HESX homeobox 1 umls:C2930844 Hypopituitarism and septooptic 'dysplasia' 0.210283504570094 1 Biomarker BeFree, CTD_human 23462 HEY1 hes-related family bHLH transcription factor with YRPW motif 1 umls:C0017636 Glioblastoma 0.210283504570094 2 Biomarker BeFree, CTD_human 23493 HEY2 hes-related family bHLH transcription factor with YRPW motif 2 umls:C1142166 Brugada Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 26508 HEYL hes-related family bHLH transcription factor with YRPW motif-like umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0042373 Vascular Diseases 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3090 HIC1 hypermethylated in cancer 1 umls:C0032584 Polyps 0.210283504570094 1 Biomarker BeFree, CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0002793 Anaplasia 0.210283504570094 2 Biomarker BeFree, CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0024115 Lung Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 8358 HIST1H3B histone cluster 1, H3b umls:C0017636 Glioblastoma 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 8358 HIST1H3B histone cluster 1, H3b umls:C0017638 Glioma 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0014848 Esophageal Achalasia 0.210283504570094 1 Biomarker BeFree, CTD_human 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0023290 Leishmaniasis, Visceral 0.210283504570094 1 Biomarker BeFree, CTD_human 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0030305 Pancreatitis 0.210283504570094 1 Biomarker BeFree, CTD_human 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0014848 Esophageal Achalasia 0.210283504570094 1 Biomarker BeFree, CTD_human 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0023290 Leishmaniasis, Visceral 0.210283504570094 1 Biomarker BeFree, CTD_human 3159 HMGA1 high mobility group AT-hook 1 umls:C0023269 Leiomyosarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3159 HMGA1 high mobility group AT-hook 1 umls:C0524620 Metabolic Syndrome X 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 3146 HMGB1 high mobility group box 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3146 HMGB1 high mobility group box 1 umls:C0151744 Myocardial Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 3148 HMGB2 high mobility group box 2 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 1 Biomarker BeFree, CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0007273 Carotid Artery Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0019212 Hepatorenal Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 3166 HMX1 H6 family homeobox 1 umls:C0026010 Microphthalmos 0.210283504570094 2 Biomarker BeFree, CTD_human 3176 HNMT histamine N-methyltransferase umls:C0035455 Rhinitis 0.210283504570094 1 Biomarker BeFree, CTD_human 574045 HNP1 Hypertensive nephropathy umls:C0848548 Hypertensive Nephropathy 0.210283504570094 1 Biomarker BeFree, CTD_human 3200 HOXA3 homeobox A3 umls:C0018798 Heart Defects, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 3218 HOXB8 homeobox B8 umls:C0028768 Obsessive-Compulsive Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 3236 HOXD10 homeobox D10 umls:C1168401 Carcinoma, squamous cell of head and neck 0.210283504570094 2 Biomarker BeFree, CTD_human 3239 HOXD13 homeobox D13 umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 2 Biomarker BeFree, CTD_human 3233 HOXD4 homeobox D4 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 3240 HP haptoglobin umls:C0242339 Dyslipidemias 0.210283504570094 2 Biomarker BeFree, CTD_human 3240 HP haptoglobin umls:C0524910 Hepatitis C, Chronic 0.210283504570094 2 Biomarker BeFree, CTD_human 3242 HPD 4-hydroxyphenylpyruvate dioxygenase umls:C0268483 Tyrosinemias 0.210283504570094 1 Biomarker BeFree, CTD_human 27306 HPGDS hematopoietic prostaglandin D synthase umls:C0023895 Liver Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 55806 HR hair growth associated umls:C0263505 Alopecia universalis 0.210283504570094 1 Biomarker BeFree, CTD_human 55806 HR hair growth associated umls:C2931059 Marie Unna congenital hypotrichosis 0.210283504570094 1 Biomarker BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0036631 Seminoma 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0040411 Tongue Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 3273 HRG histidine-rich glycoprotein umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 3269 HRH1 histamine receptor H1 umls:C0004153 Atherosclerosis 0.210283504570094 2 Biomarker BeFree, CTD_human 3269 HRH1 histamine receptor H1 umls:C0035455 Rhinitis 0.210283504570094 2 Biomarker BeFree, CTD_human 3291 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 umls:C0023890 Liver Cirrhosis 0.210283504570094 2 Biomarker BeFree, CTD_human 3295 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 umls:C0037769 Spasms, Infantile 0.210283504570094 1 Biomarker BeFree, CTD_human 3309 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) umls:C1846707 Spinocerebellar Ataxia 17 0.210283504570094 2 Biomarker BeFree, CTD_human 3312 HSPA8 heat shock 70kDa protein 8 umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3312 HSPA8 heat shock 70kDa protein 8 umls:C1846707 Spinocerebellar Ataxia 17 0.210283504570094 2 Biomarker BeFree, CTD_human 3339 HSPG2 heparan sulfate proteoglycan 2 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 1 Biomarker BeFree, CTD_human 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0013384 Dyskinesias 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 3357 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 50608 IBD4 inflammatory bowel disease 4 umls:C0021390 Inflammatory Bowel Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 50941 IBD5 inflammatory bowel disease 5 umls:C1853438 Inflammatory Bowel Disease 5 0.210283504570094 1 Biomarker BeFree, CTD_human 57042 IBD7 inflammatory bowel disease 7 umls:C0021390 Inflammatory Bowel Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 170595 IBD8 inflammatory bowel disease 8 umls:C0021390 Inflammatory Bowel Diseases 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0020538 Hypertension 0.210283504570094 3 Biomarker BeFree, CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0282548 Leukostasis 0.210283504570094 2 Biomarker BeFree, CTD_human 7087 ICAM5 intercellular adhesion molecule 5, telencephalin umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0006413 Burkitt Lymphoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 3407 IDDM8 insulin-dependent diabetes mellitus 8 umls:C1833218 Diabetes Mellitus, Insulin-Dependent, 8 0.210283504570094 1 Biomarker BeFree, CTD_human 3417 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 3417 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble umls:C0936248 Chondroma 0.210283504570094 2 Biomarker BeFree, CTD_human 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C0936248 Chondroma 0.210283504570094 2 Biomarker BeFree, CTD_human 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C0018916 Hemangioma 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C0079774 Lymphoma, T-Cell, Peripheral 0.210283504570094 3 Biomarker BeFree, CTD_human 3620 IDO1 indoleamine 2,3-dioxygenase 1 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 8870 IER3 immediate early response 3 umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 64135 IFIH1 interferon induced with helicase C domain 1 umls:C0796126 Aicardi-Goutieres syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 64135 IFIH1 interferon induced with helicase C domain 1 umls:C0021400 Influenza, Human 0.210283504570094 2 Biomarker BeFree, CTD_human 3434 IFIT1 interferon-induced protein with tetratricopeptide repeats 1 umls:C0021400 Influenza, Human 0.210283504570094 2 Biomarker BeFree, CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0007138 Carcinoma, Transitional Cell 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0011581 Depressive Disorder 0.210283504570094 5 Biomarker BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0015672 Fatigue 0.210283504570094 2 Biomarker BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0017636 Glioblastoma 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0019829 Hodgkin Disease 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0026764 Multiple Myeloma 0.210283504570094 4 Biomarker, Therapeutic BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0005695 Urinary Bladder Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0042749 Viremia 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3456 IFNB1 interferon, beta 1, fibroblast umls:C0006111 Brain Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 3456 IFNB1 interferon, beta 1, fibroblast umls:C0027819 Neuroblastoma 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0017658 Glomerulonephritis 0.210283504570094 2 Biomarker BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0035242 Respiratory Tract Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 3458 IFNG interferon, gamma umls:C1261473 Sarcoma 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3458 IFNG interferon, gamma umls:C0041341 Tuberous Sclerosis 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 282617 IFNL3 interferon, lambda 3 umls:C0004096 Asthma 0.210283504570094 2 Biomarker BeFree, CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0008370 Cholestasis 0.210283504570094 2 GeneticVariation, Therapeutic BeFree, CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0752347 Lewy Body Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 3484 IGFBP1 insulin-like growth factor binding protein 1 umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 3485 IGFBP2 insulin-like growth factor binding protein 2, 36kDa umls:C0028754 Obesity 0.210283504570094 2 Biomarker BeFree, CTD_human 3486 IGFBP3 insulin-like growth factor binding protein 3 umls:C0007138 Carcinoma, Transitional Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 3543 IGLL1 immunoglobulin lambda-like polypeptide 1 umls:C0001768 Agammaglobulinemia 0.210283504570094 1 Biomarker BeFree, CTD_human 10320 IKZF1 IKAROS family zinc finger 1 (Ikaros) umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.210283504570094 2 Biomarker BeFree, CTD_human 22806 IKZF3 IKAROS family zinc finger 3 (Aiolos) umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 2 Biomarker BeFree, CTD_human 84818 IL17RC interleukin 17 receptor C umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 3606 IL18 interleukin 18 umls:C0042109 Urticaria 0.210283504570094 2 Biomarker BeFree, CTD_human 3552 IL1A interleukin 1, alpha umls:C0151744 Myocardial Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 3553 IL1B interleukin 1, beta umls:C0023290 Leishmaniasis, Visceral 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0011991 Diarrhea 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0524988 Schnitzler Syndrome 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3558 IL2 interleukin 2 umls:C1269683 Depressive Disorder, Major 0.210283504570094 2 Biomarker BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0022665 Kidney Neoplasms 0.210283504570094 5 Biomarker, Therapeutic BeFree, CTD_human 3558 IL2 interleukin 2 umls:C0027726 Nephrotic Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 11009 IL24 interleukin 24 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3559 IL2RA interleukin 2 receptor, alpha umls:C0036341 Schizophrenia 0.210283504570094 2 Biomarker BeFree, CTD_human 3565 IL4 interleukin 4 umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 3565 IL4 interleukin 4 umls:C0241910 Hepatitis, Autoimmune 0.210283504570094 2 AlteredExpression, Biomarker BeFree, CTD_human 3567 IL5 interleukin 5 umls:C0241910 Hepatitis, Autoimmune 0.210283504570094 2 Biomarker BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0019061 Hemolytic-Uremic Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0023290 Leishmaniasis, Visceral 0.210283504570094 3 Biomarker BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3569 IL6 interleukin 6 umls:C0085655 Polymyositis 0.210283504570094 2 Biomarker BeFree, CTD_human 3569 IL6 interleukin 6 umls:C1858558 Rheumatoid Arthritis, Systemic Juvenile 0.210283504570094 1 Biomarker BeFree, CTD_human 3570 IL6R interleukin 6 receptor umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 1 Biomarker BeFree, CTD_human 3572 IL6ST interleukin 6 signal transducer umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3630 INS insulin umls:C0853897 Diabetic Cardiomyopathies 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3630 INS insulin umls:C0011882 Diabetic Neuropathies 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3630 INS insulin umls:C0752347 Lewy Body Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 3630 INS insulin umls:C1852093 Maturity-Onset Diabetes of the Young, Type 1 0.210283504570094 1 Biomarker BeFree, CTD_human 3630 INS insulin umls:C0026848 Muscular Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 3654 IRAK1 interleukin-1 receptor-associated kinase 1 umls:C1956346 Coronary Artery Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 3659 IRF1 interferon regulatory factor 1 umls:C0740302 5q- syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker BeFree, CTD_human 80271 ITPKC inositol-trisphosphate 3-kinase C umls:C0010051 Coronary Aneurysm 0.210283504570094 1 Biomarker BeFree, CTD_human 182 JAG1 jagged 1 umls:C0017636 Glioblastoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3714 JAG2 jagged 2 umls:C0017636 Glioblastoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3717 JAK2 Janus kinase 2 umls:C0151744 Myocardial Ischemia 0.210283504570094 3 Biomarker, GeneticVariation BeFree, CTD_human 3718 JAK3 Janus kinase 3 umls:C0349639 Leukemia, Myelomonocytic, Juvenile 0.210283504570094 1 Biomarker BeFree, CTD_human 3719 JBS Jacobsen syndrome umls:C0795841 Jacobsen Distal 11q Deletion Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 3726 JUNB jun B proto-oncogene umls:C0152013 Adenocarcinoma of lung 0.210283504570094 2 Biomarker BeFree, CTD_human 284058 KANSL1 KAT8 regulatory NSL complex subunit 1 umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 8514 KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2 umls:C0014544 Epilepsy 0.210283504570094 1 Biomarker BeFree, CTD_human 9992 KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 umls:C0042510 Ventricular Fibrillation 0.210283504570094 1 Biomarker BeFree, CTD_human 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C0026846 Muscular Atrophy 0.210283504570094 2 Biomarker BeFree, CTD_human 23028 KDM1A lysine (K)-specific demethylase 1A umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 1 Biomarker BeFree, CTD_human 3791 KDR kinase insert domain receptor umls:C0011881 Diabetic Nephropathies 0.210283504570094 2 Biomarker BeFree, CTD_human 3791 KDR kinase insert domain receptor umls:C0030297 Pancreatic Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3796 KIF2A kinesin heavy chain member 2A umls:C0025958 Microcephaly 0.210283504570094 1 Biomarker BeFree, CTD_human 3800 KIF5C kinesin family member 5C umls:C1955869 Malformations of Cortical Development 0.210283504570094 2 Biomarker BeFree, CTD_human 3800 KIF5C kinesin family member 5C umls:C0025958 Microcephaly 0.210283504570094 1 Biomarker BeFree, CTD_human 374654 KIF7 kinesin family member 7 umls:C0008925 Cleft Palate 0.210283504570094 1 Biomarker BeFree, CTD_human 3814 KISS1 KiSS-1 metastasis-suppressor umls:C1168401 Carcinoma, squamous cell of head and neck 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0024115 Lung Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0684337 Neuroectodermal Tumors, Primitive, Peripheral 0.210283504570094 2 Biomarker BeFree, CTD_human 4254 KITLG KIT ligand umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 687 KLF9 Kruppel-like factor 9 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 26249 KLHL3 kelch-like family member 3 umls:C0033805 Pseudohypoaldosteronism 0.210283504570094 2 Biomarker BeFree, CTD_human 3816 KLK1 kallikrein 1 umls:C0011881 Diabetic Nephropathies 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 58508 KMT2C lysine (K)-specific methyltransferase 2C umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 8085 KMT2D lysine (K)-specific methyltransferase 2D umls:C0024301 Lymphoma, Follicular 0.210283504570094 2 Biomarker BeFree, CTD_human 3827 KNG1 kininogen 1 umls:C0030193 Pain 0.210283504570094 6 Biomarker BeFree, CTD_human 90417 KNSTRN kinetochore-localized astrin/SPAG5 binding protein umls:C0007137 Carcinoma, Squamous Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C2931822 Nasopharyngeal carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0265318 Nevus, Sebaceous of Jadassohn 0.210283504570094 1 Biomarker BeFree, CTD_human 3848 KRT1 keratin 1, type II umls:C1840296 Ichthyosis hystrix, Curth Macklin type 0.210283504570094 1 Biomarker BeFree, CTD_human 3858 KRT10 keratin 10, type I umls:C3665704 Congenital reticular ichthyosiform erythroderma 0.210283504570094 1 Biomarker BeFree, CTD_human 3875 KRT18 keratin 18, type I umls:C0023890 Liver Cirrhosis 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 3875 KRT18 keratin 18, type I umls:C0023903 Liver Neoplasms 0.210283504570094 3 Biomarker BeFree, CTD_human 3880 KRT19 keratin 19, type I umls:C0004096 Asthma 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 3880 KRT19 keratin 19, type I umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 3855 KRT7 keratin 7, type II umls:C1510502 Adenoma, Oxyphilic 0.210283504570094 1 Biomarker BeFree, CTD_human 9119 KRT75 keratin 75, type II umls:C0549150 Pseudofolliculitis Barbae 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 3856 KRT8 keratin 8, type II umls:C0023903 Liver Neoplasms 0.210283504570094 3 Biomarker BeFree, CTD_human 8942 KYNU kynureninase umls:C0268474 Hydroxykynureninuria 0.210283504570094 1 Biomarker BeFree, CTD_human 3897 L1CAM L1 cell adhesion molecule umls:C0003537 Aphasia 0.210283504570094 2 Biomarker BeFree, CTD_human 9113 LATS1 large tumor suppressor kinase 1 umls:C0004114 Astrocytoma 0.210283504570094 1 Biomarker BeFree, CTD_human 26524 LATS2 large tumor suppressor kinase 2 umls:C0004114 Astrocytoma 0.210283504570094 1 Biomarker BeFree, CTD_human 3929 LBP lipopolysaccharide binding protein umls:C0524620 Metabolic Syndrome X 0.210283504570094 1 Biomarker BeFree, CTD_human 10660 LBX1 ladybird homeobox 1 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 84565 LCS1 lymphedema-cholestasis syndrome 1 umls:C0268314 Aagenaes syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 3945 LDHB lactate dehydrogenase B umls:C0007124 Carcinoma, Intraductal, Noninfiltrating 0.210283504570094 1 Biomarker BeFree, CTD_human 3952 LEP leptin umls:C0020443 Hypercholesterolemia 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 3952 LEP leptin umls:C0032617 Polyuria 0.210283504570094 2 Biomarker BeFree, CTD_human 3958 LGALS3 lectin, galactoside-binding, soluble, 3 umls:C0014859 Esophageal Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 3958 LGALS3 lectin, galactoside-binding, soluble, 3 umls:C0038356 Stomach Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 3973 LHCGR luteinizing hormone/choriogonadotropin receptor umls:C2751824 46, XY Disorders of Sex Development 0.210283504570094 2 Biomarker BeFree, CTD_human 3973 LHCGR luteinizing hormone/choriogonadotropin receptor umls:C0036875 Disorders of Sex Development 0.210283504570094 2 Biomarker BeFree, CTD_human 3973 LHCGR luteinizing hormone/choriogonadotropin receptor umls:C0023601 Leydig Cell Tumor 0.210283504570094 3 Biomarker, GeneticVariation BeFree, CTD_human 55180 LINS lines homolog (Drosophila) umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 200879 LIPH lipase, member H umls:C0345427 Woolly hair, congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 4000 LMNA lamin A/C umls:C0376634 Craniofacial Abnormalities 0.210283504570094 2 Biomarker BeFree, CTD_human 4000 LMNA lamin A/C umls:C0018794 Heart Block 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 4000 LMNA lamin A/C umls:C1136321 HIV-Associated Lipodystrophy Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 4001 LMNB1 lamin B1 umls:C0205711 Pelizaeus-Merzbacher Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 4014 LOR loricrin umls:C0007137 Carcinoma, Squamous Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 4015 LOX lysyl oxidase umls:C0268351 Cutis Laxa, Autosomal Recessive, Type I 0.210283504570094 1 Biomarker BeFree, CTD_human 4016 LOXL1 lysyl oxidase-like 1 umls:C0005695 Urinary Bladder Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 4017 LOXL2 lysyl oxidase-like 2 umls:C1458155 Breast Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 84171 LOXL4 lysyl oxidase-like 4 umls:C0005695 Urinary Bladder Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 10161 LPAR6 lysophosphatidic acid receptor 6 umls:C1854310 Hypotrichosis simplex 0.210283504570094 2 Biomarker BeFree, CTD_human 4023 LPL lipoprotein lipase umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 4026 LPP LIM domain containing preferred translocation partner in lipoma umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 1 Biomarker BeFree, CTD_human 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C0042870 Vitamin D Deficiency 0.210283504570094 1 Biomarker BeFree, CTD_human 4038 LRP4 low density lipoprotein receptor-related protein 4 umls:C0039075 Syndactyly 0.210283504570094 2 Biomarker BeFree, CTD_human 56262 LRRC8A leucine rich repeat containing 8 family, member A umls:C0001768 Agammaglobulinemia 0.210283504570094 1 Biomarker BeFree, CTD_human 4066 LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1 umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 1 Biomarker BeFree, CTD_human 4066 LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1 umls:C0026986 Myelodysplastic Syndromes 0.210283504570094 1 Biomarker BeFree, CTD_human 8216 LZTR1 leucine-zipper-like transcription regulator 1 umls:C1335929 Schwannomatosis 0.210283504570094 1 Biomarker BeFree, CTD_human 791229 MACOM macrophthalmia, colobomatous, with microcornea umls:C1865286 Macrophthalmia, Colobomatous, with Microcornea 0.210283504570094 1 Biomarker BeFree, CTD_human 8379 MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) umls:C1336708 Testicular Germ Cell Tumor 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 55534 MAML3 mastermind-like 3 (Drosophila) umls:C1261473 Sarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 11253 MAN1B1 mannosidase, alpha, class 1B, member 1 umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 4128 MAOA monoamine oxidase A umls:C0031511 Pheochromocytoma 0.210283504570094 1 Biomarker BeFree, CTD_human 5604 MAP2K1 mitogen-activated protein kinase kinase 1 umls:C0587248 Costello Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 5604 MAP2K1 mitogen-activated protein kinase kinase 1 umls:C0023443 Leukemia, Hairy Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 5609 MAP2K7 mitogen-activated protein kinase kinase 7 umls:C0024121 Lung Neoplasms 0.210283504570094 2 AlteredExpression, Biomarker BeFree, CTD_human 4293 MAP3K9 mitogen-activated protein kinase kinase kinase 9 umls:C0025202 Melanoma 0.210283504570094 1 Biomarker BeFree, CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0878544 Cardiomyopathies 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0243026 Sepsis 0.210283504570094 2 Biomarker BeFree, CTD_human 1432 MAPK14 mitogen-activated protein kinase 14 umls:C0151744 Myocardial Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0024121 Lung Neoplasms 0.210283504570094 3 Biomarker BeFree, CTD_human 4137 MAPT microtubule-associated protein tau umls:C1850077 Progressive supranuclear palsy atypical 0.210283504570094 1 Biomarker BeFree, CTD_human 8720 MBTPS1 membrane-bound transcription factor peptidase, site 1 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 431709 MDD2 Major depressive disorder 2 umls:C1269683 Depressive Disorder, Major 0.210283504570094 1 Biomarker BeFree, CTD_human 4193 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase umls:C0021364 Infertility, Male 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 9968 MED12 mediator complex subunit 12 umls:C0206650 Fibroadenoma 0.210283504570094 1 Biomarker BeFree, CTD_human 9968 MED12 mediator complex subunit 12 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 23389 MED13L mediator complex subunit 13-like umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 4208 MEF2C myocyte enhancer factor 2C umls:C0038273 Stereotypic Movement Disorder 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 4221 MEN1 multiple endocrine neoplasia I umls:C0011993 Vipoma 0.210283504570094 2 Biomarker BeFree, CTD_human 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0014859 Esophageal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 51320 MEX3C mex-3 RNA binding family member C umls:C0085580 Hypertension, Essential 0.210283504570094 1 Biomarker BeFree, CTD_human 4240 MFGE8 milk fat globule-EGF factor 8 protein umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 92667 MGME1 mitochondrial genome maintenance exonuclease 1 umls:C0751651 Mitochondrial Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 4256 MGP matrix Gla protein umls:C1260873 Aortic Valve Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 317773 MGR6 Migraine, several forms umls:C0149931 Migraine Disorders 0.210283504570094 1 Biomarker BeFree, CTD_human 53341 MHAC microhydranencephaly umls:C1857977 Microhydranencephaly 0.210283504570094 1 Biomarker BeFree, CTD_human 10367 MICU1 mitochondrial calcium uptake 1 umls:C0026650 Movement Disorders 0.210283504570094 1 Biomarker BeFree, CTD_human 10367 MICU1 mitochondrial calcium uptake 1 umls:C0026848 Muscular Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 4284 MIP major intrinsic protein of lens fiber umls:C1858679 Cataract, Autosomal Dominant 0.210283504570094 1 Biomarker BeFree, CTD_human 406899 MIR106A microRNA 106a umls:C0027627 Neoplasm Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 406910 MIR125A microRNA 125a umls:C0027627 Neoplasm Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 406935 MIR143 microRNA 143 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 406937 MIR145 microRNA 145 umls:C0014859 Esophageal Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 574033 MIR18B microRNA 18b umls:C0027627 Neoplasm Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 406967 MIR192 microRNA 192 umls:C0022658 Kidney Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 406974 MIR197 microRNA 197 umls:C0027627 Neoplasm Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 406991 MIR21 microRNA 21 umls:C0014175 Endometriosis 0.210283504570094 1 Biomarker BeFree, CTD_human 406996 MIR214 microRNA 214 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 407013 MIR24-2 microRNA 24-2 umls:C1458155 Breast Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 407021 MIR29A microRNA 29a umls:C0023903 Liver Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 494335 MIR423 microRNA 423 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 693200 MIR615 microRNA 615 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 1 Biomarker BeFree, CTD_human 693223 MIR638 microRNA 638 umls:C0027627 Neoplasm Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 407050 MIR93 microRNA 93 umls:C0029463 Osteosarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 407053 MIR96 microRNA 96 umls:C0027627 Neoplasm Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 407055 MIR99A microRNA 99a umls:C0027627 Neoplasm Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 4286 MITF microphthalmia-associated transcription factor umls:C0549567 Pigmentation Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 27030 MLH3 mutL homolog 3 umls:C0014859 Esophageal Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 51085 MLXIPL MLX interacting protein-like umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0079294 Epidermolysis Bullosa Dystrophica 0.210283504570094 1 Biomarker BeFree, CTD_human 4319 MMP10 matrix metallopeptidase 10 (stromelysin 2) umls:C0004096 Asthma 0.210283504570094 1 Biomarker BeFree, CTD_human 4322 MMP13 matrix metallopeptidase 13 (collagenase 3) umls:C0023893 Liver Cirrhosis, Experimental 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0003496 Aortic Rupture 0.210283504570094 2 Biomarker BeFree, CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0005940 Bone Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0024143 Lupus Nephritis 0.210283504570094 2 Biomarker BeFree, CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0432291 Mandibuloacral dysplasia with type A lipodystrophy 0.210283504570094 1 Biomarker BeFree, CTD_human 4338 MOCS2 molybdenum cofactor synthesis 2 umls:C0268119 Molybdenum cofactor deficiency 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 8777 MPDZ multiple PDZ domain protein umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 4353 MPO myeloperoxidase umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 2 Biomarker BeFree, CTD_human 9801 MRPL19 mitochondrial ribosomal protein L19 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 931 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 umls:C0009447 Common Variable Immunodeficiency 0.210283504570094 1 Biomarker BeFree, CTD_human 4436 MSH2 mutS homolog 2 umls:C1861975 Cafe au lait spots, multiple 0.210283504570094 1 Biomarker BeFree, CTD_human 4488 MSX2 msh homeobox 2 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 2 Biomarker BeFree, CTD_human 4502 MT2A metallothionein 2A umls:C0038356 Stomach Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 4504 MT3 metallothionein 3 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 4504 MT3 metallothionein 3 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker BeFree, CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0037928 Spinal Cord Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0040156 Thyrotoxicosis 0.210283504570094 1 Biomarker BeFree, CTD_human 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C1955869 Malformations of Cortical Development 0.210283504570094 2 Biomarker BeFree, CTD_human 4594 MUT methylmalonyl CoA mutase umls:C0025521 Metabolism, Inborn Errors 0.210283504570094 2 Biomarker BeFree, CTD_human 4598 MVK mevalonate kinase umls:C0003862 Arthralgia 0.210283504570094 2 Biomarker BeFree, CTD_human 25878 MXRA5 matrix-remodelling associated 5 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 1 Biomarker BeFree, CTD_human 4603 MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.210283504570094 2 Biomarker BeFree, CTD_human 4603 MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1 umls:C0017638 Glioma 0.210283504570094 2 Biomarker BeFree, CTD_human 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C0037052 Sick Sinus Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 4638 MYLK myosin light chain kinase umls:C0017601 Glaucoma 0.210283504570094 1 Biomarker BeFree, CTD_human 4644 MYO5A myosin VA (heavy chain 12, myoxin) umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 4645 MYO5B myosin VB umls:C0011991 Diarrhea 0.210283504570094 2 Biomarker BeFree, CTD_human 9499 MYOT myotilin umls:C0151786 Muscle Weakness 0.210283504570094 2 Biomarker BeFree, CTD_human 339345 NANOS2 nanos homolog 2 (Drosophila) umls:C0021364 Infertility, Male 0.210283504570094 2 Biomarker BeFree, CTD_human 4683 NBN nibrin umls:C0038362 Stomatitis 0.210283504570094 1 Biomarker BeFree, CTD_human 8648 NCOA1 nuclear receptor coactivator 1 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 8202 NCOA3 nuclear receptor coactivator 3 umls:C0023418 Leukemia 0.210283504570094 2 Biomarker BeFree, CTD_human 9611 NCOR1 nuclear receptor corepressor 1 umls:C0007138 Carcinoma, Transitional Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 4538 ND4 NADH dehydrogenase, subunit 4 (complex I) umls:C0036341 Schizophrenia 0.210283504570094 2 Biomarker BeFree, CTD_human 4692 NDN necdin, melanoma antigen (MAGE) family member umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker BeFree, CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0017636 Glioblastoma 0.210283504570094 2 Biomarker BeFree, CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0025202 Melanoma 0.210283504570094 2 Biomarker BeFree, CTD_human 4695 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa umls:C0023264 Leigh Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 91942 NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 umls:C0023264 Leigh Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 79661 NEIL1 nei endonuclease VIII-like 1 (E. coli) umls:C0524620 Metabolic Syndrome X 0.210283504570094 2 Biomarker BeFree, CTD_human 4745 NELL1 NEL-like 1 (chicken) umls:C0279628 Adenocarcinoma Of Esophagus 0.210283504570094 1 Biomarker BeFree, CTD_human 4771 NF2 neurofibromin 2 (merlin) umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0017178 Gastrointestinal Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0022658 Kidney Diseases 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0007786 Brain Ischemia 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0023895 Liver Diseases 0.210283504570094 2 GeneticVariation, Therapeutic BeFree, CTD_human 4792 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha umls:C0030297 Pancreatic Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0019337 Heroin Dependence 0.210283504570094 2 Biomarker BeFree, CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 55651 NHP2 NHP2 ribonucleoprotein umls:C3502105 Dyskeratosis Congenita, Autosomal Recessive 0.210283504570094 1 Biomarker BeFree, CTD_human 100188782 NIDDM4 Diabetes mellitus, noninsulin-dependent umls:C0011860 Diabetes Mellitus, Type 2 0.210283504570094 1 Biomarker BeFree, CTD_human 58484 NLRC4 NLR family, CARD domain containing 4 umls:C0014356 Enterocolitis 0.210283504570094 1 Biomarker BeFree, CTD_human 58484 NLRC4 NLR family, CARD domain containing 4 umls:C1096155 Macrophage Activation Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 4831 NME2 NME/NM23 nucleoside diphosphate kinase 2 umls:C0919267 Ovarian Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 64802 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 umls:C0029124 Optic Atrophy 0.210283504570094 1 Biomarker BeFree, CTD_human 64802 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 umls:C0035304 Retinal Degeneration 0.210283504570094 1 Biomarker BeFree, CTD_human 114568 NMTC1 Nonmedullary thyroid carcinoma 1 umls:C1853488 Thyroid Carcinoma, Nonmedullary 1 0.210283504570094 1 Biomarker BeFree, CTD_human 4826 NNAT neuronatin umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker BeFree, CTD_human 23691 NNO1 nanophthalmos 1 umls:C1838502 Nanophthalmos 1 0.210283504570094 1 Biomarker BeFree, CTD_human 55505 NOP10 NOP10 ribonucleoprotein umls:C3502105 Dyskeratosis Congenita, Autosomal Recessive 0.210283504570094 1 Biomarker BeFree, CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0004936 Mental Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0206698 Cholangiocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0038525 Subarachnoid Hemorrhage 0.210283504570094 2 Biomarker BeFree, CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0020545 Hypertension, Renovascular 0.210283504570094 2 GeneticVariation, Therapeutic BeFree, CTD_human 4853 NOTCH2 notch 2 umls:C0004114 Astrocytoma 0.210283504570094 2 Biomarker BeFree, CTD_human 4854 NOTCH3 notch 3 umls:C0887833 Carcinoma, Pancreatic Ductal 0.210283504570094 2 Biomarker BeFree, CTD_human 50507 NOX4 NADPH oxidase 4 umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 50507 NOX4 NADPH oxidase 4 umls:C0022661 Kidney Failure, Chronic 0.210283504570094 2 Biomarker BeFree, CTD_human 4864 NPC1 Niemann-Pick disease, type C1 umls:C0004134 Ataxia 0.210283504570094 2 Biomarker BeFree, CTD_human 257641 NPCA1 Nasopharyngeal carcinoma 1 umls:C2931822 Nasopharyngeal carcinoma 0.210283504570094 1 Biomarker BeFree, CTD_human 4867 NPHP1 nephronophthisis 1 (juvenile) umls:C0022658 Kidney Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 4867 NPHP1 nephronophthisis 1 (juvenile) umls:C0403553 Senior Loken Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 4868 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) umls:C0027721 Nephrosis, Lipoid 0.210283504570094 2 Biomarker BeFree, CTD_human 4869 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) umls:C0038356 Stomach Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 4878 NPPA natriuretic peptide A umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 4878 NPPA natriuretic peptide A umls:C0003504 Aortic Valve Insufficiency 0.210283504570094 2 Biomarker BeFree, CTD_human 4879 NPPB natriuretic peptide B umls:C0878544 Cardiomyopathies 0.210283504570094 3 Biomarker BeFree, CTD_human 4879 NPPB natriuretic peptide B umls:C0013404 Dyspnea 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 4881 NPR1 natriuretic peptide receptor 1 umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 4852 NPY neuropeptide Y umls:C0004096 Asthma 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 4887 NPY2R neuropeptide Y receptor Y2 umls:C0014556 Epilepsy, Temporal Lobe 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 7376 NR1H2 nuclear receptor subfamily 1, group H, member 2 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0015695 Fatty Liver 0.210283504570094 2 Biomarker BeFree, CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0022353 Jaundice, Neonatal 0.210283504570094 1 Biomarker BeFree, CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0524620 Metabolic Syndrome X 0.210283504570094 2 Biomarker BeFree, CTD_human 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0600260 Lung Diseases, Obstructive 0.210283504570094 2 Biomarker BeFree, CTD_human 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0033975 Psychotic Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 8013 NR4A3 nuclear receptor subfamily 4, group A, member 3 umls:C0020443 Hypercholesterolemia 0.210283504570094 2 Biomarker BeFree, CTD_human 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C0949595 Gonadal Dysgenesis, 46,XX 0.210283504570094 2 Biomarker BeFree, CTD_human 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C0018054 Gonadal Dysgenesis, 46,XY 0.210283504570094 4 Biomarker BeFree, CTD_human 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C0919267 Ovarian Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0079731 Lymphoma, B-Cell 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0206729 Neurofibrosarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 8829 NRP1 neuropilin 1 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 4908 NTF3 neurotrophin 3 umls:C0011882 Diabetic Neuropathies 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0020505 Hyperphagia 0.210283504570094 2 Biomarker BeFree, CTD_human 80224 NUBPL nucleotide binding protein-like umls:C0751651 Mitochondrial Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 4938 OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa umls:C0042769 Virus Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 4953 ODC1 ornithine decarboxylase 1 umls:C0037286 Skin Neoplasms 0.210283504570094 3 Biomarker BeFree, CTD_human 4963 OFC1 orofacial cleft 1 umls:C1861537 Orofacial Cleft 1 0.210283504570094 1 Biomarker BeFree, CTD_human 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0021364 Infertility, Male 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0024299 Lymphoma 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 10562 OLFM4 olfactomedin 4 umls:C0014175 Endometriosis 0.210283504570094 1 Biomarker BeFree, CTD_human 4977 OPA2 optic atrophy 2 (obscure) umls:C1839576 Optic atrophy, X-linked 0.210283504570094 1 Biomarker BeFree, CTD_human 4986 OPRK1 opioid receptor, kappa 1 umls:C0038587 Substance Withdrawal Syndrome 0.210283504570094 3 Biomarker BeFree, CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0013384 Dyskinesias 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 84876 ORAI1 ORAI calcium release-activated calcium modulator 1 umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 5000 ORC4 origin recognition complex, subunit 4 umls:C1868684 Meier-Gorlin syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 5027 P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 umls:C0026769 Multiple Sclerosis 0.210283504570094 2 Biomarker BeFree, CTD_human 5034 P4HB prolyl 4-hydroxylase, beta polypeptide umls:C0029456 Osteoporosis 0.210283504570094 2 Biomarker BeFree, CTD_human 23569 PADI4 peptidyl arginine deiminase, type IV umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 5048 PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) umls:C0596263 Carcinogenesis 0.210283504570094 2 AlteredExpression, Biomarker BeFree, CTD_human 5058 PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 5066 PAM peptidylglycine alpha-amidating monooxygenase umls:C0011860 Diabetes Mellitus, Type 2 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 5069 PAPPA pregnancy-associated plasma protein A, pappalysin 1 umls:C0002965 Angina, Unstable 0.210283504570094 2 Biomarker BeFree, CTD_human 5069 PAPPA pregnancy-associated plasma protein A, pappalysin 1 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 11315 PARK7 parkinson protein 7 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0004153 Atherosclerosis 0.210283504570094 2 Biomarker BeFree, CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0007786 Brain Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0019158 Hepatitis 0.210283504570094 2 Biomarker BeFree, CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0028754 Obesity 0.210283504570094 2 Biomarker BeFree, CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0032285 Pneumonia 0.210283504570094 2 Biomarker BeFree, CTD_human 23178 PASK PAS domain containing serine/threonine kinase umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 5076 PAX2 paired box 2 umls:C0014175 Endometriosis 0.210283504570094 1 Biomarker BeFree, CTD_human 5076 PAX2 paired box 2 umls:C0022661 Kidney Failure, Chronic 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 5080 PAX6 paired box 6 umls:C1271219 Ectopia pupillae 0.210283504570094 1 Biomarker BeFree, CTD_human 22976 PAXIP1 PAX interacting (with transcription-activation domain) protein 1 umls:C0002395 Alzheimer Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 7948 PBCRA1 progressive bifocal chorioretinal atrophy 1 umls:C1833321 Chorioretinal atrophy, progressive bifocal 0.210283504570094 1 Biomarker BeFree, CTD_human 57575 PCDH10 protocadherin 10 umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 5108 PCM1 pericentriolar material 1 umls:C0238463 Thyroid cancer, papillary 0.210283504570094 1 Biomarker BeFree, CTD_human 5111 PCNA proliferating cell nuclear antigen umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 5111 PCNA proliferating cell nuclear antigen umls:C0033860 Psoriasis 0.210283504570094 2 Biomarker BeFree, CTD_human 5120 PCOS1 polycystic ovary syndrome 1 umls:C0032460 Polycystic Ovary Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C1531773 Currarino triad 0.210283504570094 1 Biomarker BeFree, CTD_human 5130 PCYT1A phosphate cytidylyltransferase 1, choline, alpha umls:C0080178 Spinal Dysraphism 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 5141 PDE4A phosphodiesterase 4A, cAMP-specific umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C0025500 Mesothelioma 0.210283504570094 2 Biomarker BeFree, CTD_human 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C0008925 Cleft Palate 0.210283504570094 2 Biomarker BeFree, CTD_human 5162 PDHB pyruvate dehydrogenase (lipoamide) beta umls:C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 2923 PDIA3 protein disulfide isomerase family A, member 3 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 5170 PDPK1 3-phosphoinositide dependent protein kinase 1 umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 5170 PDPK1 3-phosphoinositide dependent protein kinase 1 umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.210283504570094 1 Biomarker BeFree, CTD_human 5173 PDYN prodynorphin umls:C0242422 Parkinsonian Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 5179 PENK proenkephalin umls:C0027765 Nervous System Diseases 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5192 PEX10 peroxisomal biogenesis factor 10 umls:C0043459 Zellweger Syndrome 0.210283504570094 3 Biomarker BeFree, CTD_human 5824 PEX19 peroxisomal biogenesis factor 19 umls:C0043459 Zellweger Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 5828 PEX2 peroxisomal biogenesis factor 2 umls:C1832200 Peroxisome biogenesis disorders 0.210283504570094 3 Biomarker BeFree, CTD_human 55670 PEX26 peroxisomal biogenesis factor 26 umls:C0282527 Refsum Disease, Infantile 0.210283504570094 2 Biomarker BeFree, CTD_human 5209 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 umls:C0028754 Obesity 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 26227 PHGDH phosphoglycerate dehydrogenase umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5277 PIGA phosphatidylinositol glycan anchor biosynthesis, class A umls:C1853205 Glycosylphosphatidylinositol deficiency 0.210283504570094 2 Biomarker BeFree, CTD_human 93183 PIGM phosphatidylinositol glycan anchor biosynthesis, class M umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C1863924 Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 5292 PIM1 Pim-1 proto-oncogene, serine/threonine kinase umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5292 PIM1 Pim-1 proto-oncogene, serine/threonine kinase umls:C0034186 Pyelonephritis 0.210283504570094 1 Biomarker BeFree, CTD_human 65018 PINK1 PTEN induced putative kinase 1 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 51268 PIPOX pipecolic acid oxidase umls:C0282528 Peroxisomal Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 5307 PITX1 paired-like homeodomain 1 umls:C1336708 Testicular Germ Cell Tumor 0.210283504570094 1 Biomarker BeFree, CTD_human 5311 PKD2 polycystic kidney disease 2 (autosomal dominant) umls:C0042373 Vascular Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 5321 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) umls:C0002736 Amyotrophic Lateral Sclerosis 0.210283504570094 2 Biomarker BeFree, CTD_human 5327 PLAT plasminogen activator, tissue umls:C0034065 Pulmonary Embolism 0.210283504570094 10 Biomarker, Therapeutic BeFree, CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0005967 Bone Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0023890 Liver Cirrhosis 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 144100 PLEKHA7 pleckstrin homology domain containing, family A member 7 umls:C0017605 Glaucoma, Angle-Closure 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 10769 PLK2 polo-like kinase 2 umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 10733 PLK4 polo-like kinase 4 umls:C0025958 Microcephaly 0.210283504570094 1 Biomarker BeFree, CTD_human 5352 PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 umls:C0029408 Osteoarthritis 0.210283504570094 2 Biomarker BeFree, CTD_human 5376 PMP22 peripheral myelin protein 22 umls:C0151786 Muscle Weakness 0.210283504570094 2 Biomarker BeFree, CTD_human 5376 PMP22 peripheral myelin protein 22 umls:C0030554 Paresthesia 0.210283504570094 2 Biomarker BeFree, CTD_human 5395 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) umls:C0027627 Neoplasm Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 5395 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) umls:C0035412 Rhabdomyosarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 11284 PNKP polynucleotide kinase 3'-phosphatase umls:C0025958 Microcephaly 0.210283504570094 1 Biomarker BeFree, CTD_human 11284 PNKP polynucleotide kinase 3'-phosphatase umls:C0036572 Seizures 0.210283504570094 1 Biomarker BeFree, CTD_human 5368 PNOC prepronociceptin umls:C0030193 Pain 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 57104 PNPLA2 patatin-like phospholipase domain containing 2 umls:C0018799 Heart Diseases 0.210283504570094 3 Biomarker BeFree, CTD_human 5424 POLD1 polymerase (DNA directed), delta 1, catalytic subunit umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5424 POLD1 polymerase (DNA directed), delta 1, catalytic subunit umls:C0023787 Lipodystrophy 0.210283504570094 1 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0005586 Bipolar Disorder 0.210283504570094 3 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0008370 Cholestasis 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0014544 Epilepsy 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0020488 Hypernatremia 0.210283504570094 3 Biomarker BeFree, CTD_human 5443 POMC proopiomelanocortin umls:C0038587 Substance Withdrawal Syndrome 0.210283504570094 5 Biomarker, Therapeutic BeFree, CTD_human 5444 PON1 paraoxonase 1 umls:C0019112 Hemorrhoids 0.210283504570094 1 Biomarker BeFree, CTD_human 5447 POR P450 (cytochrome) oxidoreductase umls:C0005695 Urinary Bladder Neoplasms 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 5460 POU5F1 POU class 5 homeobox 1 umls:C2931618 Gestational Trophoblastic Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0015696 Fatty Liver, Alcoholic 0.210283504570094 2 Biomarker BeFree, CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0022658 Kidney Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0022672 Kidney Tubular Necrosis, Acute 0.210283504570094 2 Biomarker BeFree, CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0026848 Muscular Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 5467 PPARD peroxisome proliferator-activated receptor delta umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0282548 Leukostasis 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0085413 Polycystic Kidney, Autosomal Dominant 0.210283504570094 2 Biomarker BeFree, CTD_human 84152 PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B umls:C0013384 Dyskinesias 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5519 PPP2R1B protein phosphatase 2, regulatory subunit A, beta umls:C0024121 Lung Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 5527 PPP2R5C protein phosphatase 2, regulatory subunit B', gamma umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 23532 PRAME preferentially expressed antigen in melanoma umls:C0026764 Multiple Myeloma 0.210283504570094 2 Biomarker BeFree, CTD_human 7799 PRDM2 PR domain containing 2, with ZNF domain umls:C0040136 Thyroid Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 5052 PRDX1 peroxiredoxin 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker BeFree, CTD_human 7001 PRDX2 peroxiredoxin 2 umls:C0023470 Leukemia, Myeloid 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 7001 PRDX2 peroxiredoxin 2 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 9588 PRDX6 peroxiredoxin 6 umls:C0024121 Lung Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5551 PRF1 perforin 1 (pore forming protein) umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 145270 PRIMA1 proline rich membrane anchor 1 umls:C0026850 Muscular Dystrophies 0.210283504570094 1 Biomarker BeFree, CTD_human 5563 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit umls:C0878544 Cardiomyopathies 0.210283504570094 2 Biomarker BeFree, CTD_human 5566 PRKACA protein kinase, cAMP-dependent, catalytic, alpha umls:C0001624 Adrenal Gland Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C0001627 Adrenal Hyperplasia, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0027051 Myocardial Infarction 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5587 PRKD1 protein kinase D1 umls:C0001418 Adenocarcinoma 0.210283504570094 1 Biomarker BeFree, CTD_human 5617 PRL prolactin umls:C0242350 Erectile Dysfunction 0.210283504570094 6 Biomarker BeFree, CTD_human 5617 PRL prolactin umls:C2937421 Prostatic Hyperplasia 0.210283504570094 2 Biomarker BeFree, CTD_human 5621 PRNP prion protein umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C2930896 Congenital thrombotic disease, due to Protein C deficiency 0.210283504570094 1 Biomarker BeFree, CTD_human 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C0085650 Purpura Fulminans 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 5627 PROS1 protein S (alpha) umls:C0040038 Thromboembolism 0.210283504570094 2 Biomarker BeFree, CTD_human 54458 PRR13 proline rich 13 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 1 Biomarker BeFree, CTD_human 5396 PRRX1 paired related homeobox 1 umls:C3494422 Retrognathia 0.210283504570094 1 Biomarker BeFree, CTD_human 57716 PRX periaxin umls:C0027888 Hereditary Sensory and Motor Neuropathy 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 57716 PRX periaxin umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 5664 PSEN2 presenilin 2 umls:C0007193 Cardiomyopathy, Dilated 0.210283504570094 1 Biomarker BeFree, CTD_human 5689 PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 5702 PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 umls:C0019693 HIV Infections 0.210283504570094 2 Biomarker BeFree, CTD_human 8624 PSMG1 proteasome (prosome, macropain) assembly chaperone 1 umls:C0009324 Colitis, Ulcerative 0.210283504570094 2 Biomarker BeFree, CTD_human 7889 PSORS3 psoriasis susceptibility 3 umls:C0033860 Psoriasis 0.210283504570094 1 Biomarker BeFree, CTD_human 65245 PSORS7 psoriasis susceptibility 7 umls:C0033860 Psoriasis 0.210283504570094 1 Biomarker BeFree, CTD_human 140454 PSORS8 psoriasis susceptibility 8 umls:C0033860 Psoriasis 0.210283504570094 1 Biomarker BeFree, CTD_human 5725 PTBP1 polypyrimidine tract binding protein 1 umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0004096 Asthma 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0010606 Carcinoma, Adenoid Cystic 0.210283504570094 2 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0008073 Developmental Disabilities 0.210283504570094 4 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0018916 Hemangioma 0.210283504570094 2 Biomarker BeFree, CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0152427 Polydactyly 0.210283504570094 1 Biomarker BeFree, CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0016382 Flushing 0.210283504570094 2 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0162871 Aortic Aneurysm, Abdominal 0.210283504570094 2 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C1319853 Asthma, Aspirin-Induced 0.210283504570094 3 Biomarker, GeneticVariation BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0339143 Graves Ophthalmopathy 0.210283504570094 2 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0023269 Leiomyosarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0030305 Pancreatitis 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0040411 Tongue Neoplasms 0.210283504570094 3 Biomarker BeFree, CTD_human 5741 PTH parathyroid hormone umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0006625 Cachexia 0.210283504570094 2 Biomarker BeFree, CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0206754 Neuroendocrine Tumors 0.210283504570094 2 Biomarker BeFree, CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0030297 Pancreatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0376670 Pancreatitis, Alcoholic 0.210283504570094 1 Biomarker BeFree, CTD_human 8830 PTLAH patella aplasia-hypoplasia umls:C1868577 Absent patella 0.210283504570094 1 Biomarker BeFree, CTD_human 5757 PTMA prothymosin, alpha umls:C0001430 Adenoma 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 5757 PTMA prothymosin, alpha umls:C0035412 Rhabdomyosarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 5770 PTPN1 protein tyrosine phosphatase, non-receptor type 1 umls:C0019829 Hodgkin Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0004114 Astrocytoma 0.210283504570094 2 Biomarker BeFree, CTD_human 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0014084 Enchondromatosis 0.210283504570094 2 Biomarker BeFree, CTD_human 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0029423 Osteochondroma 0.210283504570094 2 Biomarker BeFree, CTD_human 5783 PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 5787 PTPRB protein tyrosine phosphatase, receptor type, B umls:C0018923 Hemangiosarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 5789 PTPRD protein tyrosine phosphatase, receptor type, D umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.210283504570094 1 Biomarker BeFree, CTD_human 5796 PTPRK protein tyrosine phosphatase, receptor type, K umls:C0025202 Melanoma 0.210283504570094 3 Biomarker BeFree, CTD_human 5816 PVALB parvalbumin umls:C1510502 Adenoma, Oxyphilic 0.210283504570094 1 Biomarker BeFree, CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0206704 Carcinoma, Large Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0262584 Carcinoma, Small Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0007137 Carcinoma, Squamous Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 5697 PYY peptide YY umls:C0011991 Diarrhea 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 25797 QPCT glutaminyl-peptide cyclotransferase umls:C0025202 Melanoma 0.210283504570094 2 Biomarker BeFree, CTD_human 116442 RAB39B RAB39B, member RAS oncogene family umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 116442 RAB39B RAB39B, member RAS oncogene family umls:C1136249 Mental Retardation, X-Linked 0.210283504570094 1 Biomarker BeFree, CTD_human 5880 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) umls:C0024299 Lymphoma 0.210283504570094 2 Biomarker BeFree, CTD_human 5889 RAD51C RAD51 paralog C umls:C0919267 Ovarian Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 8438 RAD54L RAD54-like (S. cerevisiae) umls:C1458155 Breast Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 5883 RAD9A RAD9 homolog A (S. pombe) umls:C0085183 Neoplasms, Second Primary 0.210283504570094 1 Biomarker BeFree, CTD_human 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0007193 Cardiomyopathy, Dilated 0.210283504570094 1 Biomarker BeFree, CTD_human 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0022665 Kidney Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 10743 RAI1 retinoic acid induced 1 umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 10743 RAI1 retinoic acid induced 1 umls:C0025202 Melanoma 0.210283504570094 2 Biomarker BeFree, CTD_human 10411 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 umls:C0024117 Pulmonary Disease, Chronic Obstructive 0.210283504570094 1 Biomarker BeFree, CTD_human 5915 RARB retinoic acid receptor, beta umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 5915 RARB retinoic acid receptor, beta umls:C0038356 Stomach Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5919 RARRES2 retinoic acid receptor responder (tazarotene induced) 2 umls:C0271650 Glucose Intolerance 0.210283504570094 2 Biomarker BeFree, CTD_human 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C0235752 Port-Wine Stain 0.210283504570094 2 Biomarker BeFree, CTD_human 84839 RAX2 retina and anterior neural fold homeobox 2 umls:C0035304 Retinal Degeneration 0.210283504570094 1 Biomarker BeFree, CTD_human 5925 RB1 retinoblastoma 1 umls:C0206686 Adrenocortical Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 54715 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 5949 RBP3 retinol binding protein 3, interstitial umls:C0004364 Autoimmune Diseases 0.210283504570094 3 Biomarker BeFree, CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0042842 Vitamin A Deficiency 0.210283504570094 2 Biomarker BeFree, CTD_human 1827 RCAN1 regulator of calcineurin 1 umls:C0020179 Huntington Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 5959 RDH5 retinol dehydrogenase 5 (11-cis/9-cis) umls:C0027092 Myopia 0.210283504570094 2 Biomarker BeFree, CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0006118 Brain Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0009375 Colonic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0011881 Diabetic Nephropathies 0.210283504570094 2 Biomarker BeFree, CTD_human 5972 REN renin umls:C0029456 Osteoporosis 0.210283504570094 1 Biomarker BeFree, CTD_human 5972 REN renin umls:C0033860 Psoriasis 0.210283504570094 2 Biomarker BeFree, CTD_human 5973 RENBP renin binding protein umls:C0007193 Cardiomyopathy, Dilated 0.210283504570094 2 Biomarker BeFree, CTD_human 56729 RETN resistin umls:C0403447 Renal Insufficiency, Chronic 0.210283504570094 2 Biomarker BeFree, CTD_human 55159 RFWD3 ring finger and WD repeat domain 3 umls:C1336708 Testicular Germ Cell Tumor 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 5997 RGS2 regulator of G-protein signaling 2 umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 2 Biomarker BeFree, CTD_human 8490 RGS5 regulator of G-protein signaling 5 umls:C0085580 Hypertension, Essential 0.210283504570094 1 Biomarker BeFree, CTD_human 387 RHOA ras homolog family member A umls:C0079772 Lymphoma, T-Cell 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 23221 RHOBTB2 Rho-related BTB domain containing 2 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 9610 RIN1 Ras and Rab interactor 1 umls:C0025202 Melanoma 0.210283504570094 2 Biomarker BeFree, CTD_human 8767 RIPK2 receptor-interacting serine-threonine kinase 2 umls:C0009324 Colitis, Ulcerative 0.210283504570094 1 Biomarker BeFree, CTD_human 450097 RLS2 Restless legs syndrome 2 umls:C0035258 Restless Legs Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 100188813 RLS4 Restless legs syndrome 4 umls:C0035258 Restless Legs Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 100188839 RLS5 Restless legs syndrome, susceptibility to, 5 umls:C0035258 Restless Legs Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 100302512 RLS6 Restless legs syndrome, susceptibility to, 6 umls:C0035258 Restless Legs Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 11236 RNF139 ring finger protein 139 umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 6091 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 6092 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 6098 ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase umls:C0017638 Glioma 0.210283504570094 2 Biomarker BeFree, CTD_human 57096 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 umls:C0028738 Nystagmus, Pathologic 0.210283504570094 1 Biomarker BeFree, CTD_human 23322 RPGRIP1L RPGRIP1-like umls:C0022658 Kidney Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 23322 RPGRIP1L RPGRIP1-like umls:C0035304 Retinal Degeneration 0.210283504570094 1 Biomarker BeFree, CTD_human 6134 RPL10 ribosomal protein L10 umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.210283504570094 1 Biomarker BeFree, CTD_human 6125 RPL5 ribosomal protein L5 umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.210283504570094 1 Biomarker BeFree, CTD_human 6194 RPS6 ribosomal protein S6 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 6197 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 1 Biomarker BeFree, CTD_human 6198 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.210283504570094 2 Biomarker BeFree, CTD_human 6240 RRM1 ribonucleotide reductase M1 umls:C0206686 Adrenocortical Carcinoma 0.210283504570094 1 Biomarker BeFree, CTD_human 91543 RSAD2 radical S-adenosyl methionine domain containing 2 umls:C0021400 Influenza, Human 0.210283504570094 2 Biomarker BeFree, CTD_human 860 RUNX2 runt-related transcription factor 2 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 860 RUNX2 runt-related transcription factor 2 umls:C0041948 Uremia 0.210283504570094 2 Biomarker BeFree, CTD_human 59350 RXFP1 relaxin/insulin-like family peptide receptor 1 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 6281 S100A10 S100 calcium binding protein A10 umls:C0025149 Medulloblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 6277 S100A6 S100 calcium binding protein A6 umls:C0025149 Medulloblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 6279 S100A8 S100 calcium binding protein A8 umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 2 Biomarker BeFree, CTD_human 6299 SALL1 spalt-like transcription factor 1 umls:C0206762 Limb Deformities, Congenital 0.210283504570094 3 Biomarker BeFree, CTD_human 23098 SARM1 sterile alpha and TIR motif containing 1 umls:C0035235 Respiratory Syncytial Virus Infections 0.210283504570094 1 Biomarker BeFree, CTD_human 192683 SCAMP5 secretory carrier membrane protein 5 umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 6319 SCD stearoyl-CoA desaturase (delta-9-desaturase) umls:C0007097 Carcinoma 0.210283504570094 3 Biomarker BeFree, CTD_human 101669767 SCHLAP1 SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding) umls:C0027627 Neoplasm Metastasis 0.210283504570094 1 Biomarker BeFree, CTD_human 101669767 SCHLAP1 SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding) umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 7864 SCLC1 small cell cancer of the lung umls:C0262584 Carcinoma, Small Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 6336 SCN10A sodium channel, voltage gated, type X alpha subunit umls:C0018794 Heart Block 0.210283504570094 2 Biomarker BeFree, CTD_human 11280 SCN11A sodium channel, voltage gated, type XI alpha subunit umls:C0002768 Pain Insensitivity, Congenital 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C0026650 Movement Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C0032768 Neuralgia, Postherpetic 0.210283504570094 1 Biomarker BeFree, CTD_human 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C0040822 Tremor 0.210283504570094 2 Biomarker BeFree, CTD_human 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C0032768 Neuralgia, Postherpetic 0.210283504570094 1 Biomarker BeFree, CTD_human 6341 SCO1 SCO1 cytochrome c oxidase assembly protein umls:C0751651 Mitochondrial Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 6342 SCP2 sterol carrier protein 2 umls:C0013421 Dystonia 0.210283504570094 1 Biomarker BeFree, CTD_human 6377 SCZD1 schizophrenia disorder 1 umls:C0036341 Schizophrenia 0.210283504570094 1 Biomarker BeFree, CTD_human 63944 SCZD10 schizophrenia disorder 10 (periodic catatonia) umls:C0036341 Schizophrenia 0.210283504570094 1 Biomarker BeFree, CTD_human 6378 SCZD2 schizophrenia disorder 2 umls:C0036341 Schizophrenia 0.210283504570094 1 Biomarker BeFree, CTD_human 51150 SDF4 stromal cell derived factor 4 umls:C0036341 Schizophrenia 0.210283504570094 2 Biomarker BeFree, CTD_human 6389 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) umls:C0007193 Cardiomyopathy, Dilated 0.210283504570094 1 Biomarker BeFree, CTD_human 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C0025202 Melanoma 0.210283504570094 1 Biomarker BeFree, CTD_human 11231 SEC63 SEC63 homolog (S. cerevisiae) umls:C0022680 Polycystic Kidney Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 8991 SELENBP1 selenium binding protein 1 umls:C0033975 Psychotic Disorders 0.210283504570094 1 Biomarker BeFree, CTD_human 6403 SELP selectin P (granule membrane protein 140kDa, antigen CD62) umls:C0151744 Myocardial Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 7869 SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B umls:C0027819 Neuroblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0007097 Carcinoma 0.210283504570094 3 Biomarker BeFree, CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0524851 Neurodegenerative Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 346288 SEPT14 septin 14 umls:C0017636 Glioblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 10801 SEPT9 septin 9 umls:C0221759 Brachial Plexus Neuritis 0.210283504570094 2 Biomarker BeFree, CTD_human 84947 SERAC1 serine active site containing 1 umls:C0013421 Dystonia 0.210283504570094 1 Biomarker BeFree, CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0003469 Anxiety Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0003850 Arteriosclerosis 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0005586 Bipolar Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 51156 SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 umls:C0398623 Thrombophilia 0.210283504570094 1 Biomarker BeFree, CTD_human 5268 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 umls:C1134719 Carcinoma, Ductal, Breast 0.210283504570094 2 Biomarker BeFree, CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0012739 Disseminated Intravascular Coagulation 0.210283504570094 4 Biomarker, Therapeutic BeFree, CTD_human 3053 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 umls:C0398623 Thrombophilia 0.210283504570094 2 Biomarker BeFree, CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 26040 SETBP1 SET binding protein 1 umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 2810 SFN stratifin umls:C0014859 Esophageal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2810 SFN stratifin umls:C0024232 Lymphatic Metastasis 0.210283504570094 2 Biomarker BeFree, CTD_human 6442 SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) umls:C2936331 Sarcoglycanopathies 0.210283504570094 1 Biomarker BeFree, CTD_human 6446 SGK1 serum/glucocorticoid regulated kinase 1 umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 4068 SH2D1A SH2 domain containing 1A umls:C0024314 Lymphoproliferative Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 50944 SHANK1 SH3 and multiple ankyrin repeat domains 1 umls:C0003469 Anxiety Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 50944 SHANK1 SH3 and multiple ankyrin repeat domains 1 umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 85358 SHANK3 SH3 and multiple ankyrin repeat domains 3 umls:C0008073 Developmental Disabilities 0.210283504570094 2 Biomarker BeFree, CTD_human 85358 SHANK3 SH3 and multiple ankyrin repeat domains 3 umls:C2931332 Telomeric 22q13 Monosomy Syndrome 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 81858 SHARPIN SHANK-associated RH domain interactor umls:C0011603 Dermatitis 0.210283504570094 2 Biomarker BeFree, CTD_human 171157 SHFM5 split hand/foot malformation (ectrodactyly) type 5 umls:C2931019 Split hand foot deformity 1 0.210283504570094 1 Biomarker BeFree, CTD_human 6469 SHH sonic hedgehog umls:C0009363 Coloboma 0.210283504570094 1 Biomarker BeFree, CTD_human 6469 SHH sonic hedgehog umls:C1868114 POLYDACTYLY, PREAXIAL II 0.210283504570094 1 Biomarker BeFree, CTD_human 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C0002622 Amnesia 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 6494 SIPA1 signal-induced proliferation-associated 1 umls:C0025202 Melanoma 0.210283504570094 1 Biomarker BeFree, CTD_human 23410 SIRT3 sirtuin 3 umls:C0007137 Carcinoma, Squamous Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 51547 SIRT7 sirtuin 7 umls:C0015695 Fatty Liver 0.210283504570094 1 Biomarker BeFree, CTD_human 6497 SKI SKI proto-oncogene umls:C0003486 Aortic Aneurysm 0.210283504570094 1 Biomarker BeFree, CTD_human 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0014556 Epilepsy, Temporal Lobe 0.210283504570094 2 Biomarker BeFree, CTD_human 57468 SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 umls:C0014556 Epilepsy, Temporal Lobe 0.210283504570094 2 Biomarker BeFree, CTD_human 57468 SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 umls:C0038220 Status Epilepticus 0.210283504570094 1 Biomarker BeFree, CTD_human 26503 SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 umls:C0342853 Sialic Acid Storage Disease 0.210283504570094 1 Biomarker BeFree, CTD_human 6571 SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 umls:C0242422 Parkinsonian Disorders 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C0001430 Adenoma 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C0005695 Urinary Bladder Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 6506 SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 umls:C0014544 Epilepsy 0.210283504570094 2 Biomarker BeFree, CTD_human 6507 SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 umls:C0014544 Epilepsy 0.210283504570094 2 Biomarker BeFree, CTD_human 6584 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 9963 SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1 umls:C0008370 Cholestasis 0.210283504570094 2 Biomarker BeFree, CTD_human 9962 SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2 umls:C0008370 Cholestasis 0.210283504570094 2 Biomarker BeFree, CTD_human 10861 SLC26A1 solute carrier family 26 (anion exchanger), member 1 umls:C0451641 Urolithiasis 0.210283504570094 3 Biomarker BeFree, CTD_human 9154 SLC28A1 solute carrier family 28 (concentrative nucleoside transporter), member 1 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 2030 SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1 umls:C0586323 Alcohol Withdrawal Seizures 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C0020619 Hypogonadism 0.210283504570094 1 Biomarker BeFree, CTD_human 81031 SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 umls:C1458155 Breast Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 6514 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 10568 SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2 umls:C1864873 Testicular Microlithiasis 0.210283504570094 1 Biomarker BeFree, CTD_human 8671 SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 umls:C0017601 Glaucoma 0.210283504570094 2 Biomarker BeFree, CTD_human 113278 SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 umls:C0030442 Bulbar Palsy, Progressive 0.210283504570094 1 Biomarker BeFree, CTD_human 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C0919267 Ovarian Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 6529 SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 umls:C0002736 Amyotrophic Lateral Sclerosis 0.210283504570094 1 Biomarker BeFree, CTD_human 340024 SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 umls:C0268654 Iminoglycinuria 0.210283504570094 1 Biomarker BeFree, CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C1852197 Major Affective Disorder 1 0.210283504570094 1 Biomarker BeFree, CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0027765 Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C1456784 Paranoid Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 6535 SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 umls:C0008073 Developmental Disabilities 0.210283504570094 2 Biomarker BeFree, CTD_human 285195 SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 9353 SLIT2 slit homolog 2 (Drosophila) umls:C0014556 Epilepsy, Temporal Lobe 0.210283504570094 1 Biomarker BeFree, CTD_human 114798 SLITRK1 SLIT and NTRK-like family, member 1 umls:C0040953 Trichotillomania 0.210283504570094 1 Biomarker BeFree, CTD_human 4089 SMAD4 SMAD family member 4 umls:C0206698 Cholangiocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 6597 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 umls:C0919267 Ovarian Neoplasms 0.210283504570094 3 Biomarker BeFree, CTD_human 6598 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 umls:C0265338 Coffin-Siris syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 6605 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 umls:C0265338 Coffin-Siris syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 6608 SMO smoothened, frizzled class receptor umls:C0206663 Neuroectodermal Tumors, Primitive 0.210283504570094 1 Biomarker BeFree, CTD_human 55512 SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) umls:C0023418 Leukemia 0.210283504570094 2 Biomarker BeFree, CTD_human 6616 SNAP25 synaptosomal-associated protein, 25kDa umls:C0033975 Psychotic Disorders 0.210283504570094 2 Biomarker BeFree, CTD_human 54221 SNTG2 syntrophin, gamma 2 umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0948089 Acute Coronary Syndrome 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0162309 Adrenoleukodystrophy 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0002871 Anemia 0.210283504570094 2 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 3 Biomarker, GeneticVariation BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0014866 Esophageal Stenosis 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0014868 Esophagitis 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.210283504570094 2 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0151744 Myocardial Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C2931822 Nasopharyngeal carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0524851 Neurodegenerative Diseases 0.210283504570094 4 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0030354 Papilloma 0.210283504570094 2 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0005695 Urinary Bladder Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0042373 Vascular Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 30812 SOX8 SRY (sex determining region Y)-box 8 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0029434 Osteogenesis Imperfecta 0.210283504570094 2 Biomarker BeFree, CTD_human 780922 SPD3 Synpolydactyly 3 umls:C1853255 Synpolydactyly 3 0.210283504570094 1 Biomarker BeFree, CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0027659 Neoplasms, Experimental 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0041948 Uremia 0.210283504570094 2 Biomarker BeFree, CTD_human 6701 SPRR2B small proline-rich protein 2B umls:C0004096 Asthma 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 83932 SPRTN SprT-like N-terminal domain umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 1 Biomarker BeFree, CTD_human 10253 SPRY2 sprouty homolog 2 (Drosophila) umls:C0024121 Lung Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 84654 SPZ1 spermatogenic leucine zipper 1 umls:C0038356 Stomach Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 6750 SST somatostatin umls:C0004763 Barrett Esophagus 0.210283504570094 1 Biomarker BeFree, CTD_human 6751 SSTR1 somatostatin receptor 1 umls:C0206754 Neuroendocrine Tumors 0.210283504570094 2 Biomarker BeFree, CTD_human 6753 SSTR3 somatostatin receptor 3 umls:C0206754 Neuroendocrine Tumors 0.210283504570094 2 Biomarker BeFree, CTD_human 6775 STAT4 signal transducer and activator of transcription 4 umls:C0026769 Multiple Sclerosis 0.210283504570094 2 Biomarker BeFree, CTD_human 6776 STAT5A signal transducer and activator of transcription 5A umls:C0024121 Lung Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 3925 STMN1 stathmin 1 umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 92335 STRADA STE20-related kinase adaptor alpha umls:C0025149 Medulloblastoma 0.210283504570094 1 Biomarker BeFree, CTD_human 112755 STX1B syntaxin 1B umls:C0014544 Epilepsy 0.210283504570094 1 Biomarker BeFree, CTD_human 112755 STX1B syntaxin 1B umls:C0009952 Seizures, Febrile 0.210283504570094 1 Biomarker BeFree, CTD_human 29091 STXBP6 syntaxin binding protein 6 (amisyn) umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 23213 SULF1 sulfatase 1 umls:C0919267 Ovarian Neoplasms 0.210283504570094 1 Biomarker BeFree, CTD_human 6783 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 6832 SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae) umls:C0020757 Ichthyosis 0.210283504570094 1 Biomarker BeFree, CTD_human 23512 SUZ12 SUZ12 polycomb repressive complex 2 subunit umls:C0206727 Nerve Sheath Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 9899 SV2B synaptic vesicle glycoprotein 2B umls:C0022658 Kidney Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 6855 SYP synaptophysin umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 2 Biomarker BeFree, CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0005586 Bipolar Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C1269683 Depressive Disorder, Major 0.210283504570094 2 Biomarker BeFree, CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0033774 Pruritus 0.210283504570094 2 Biomarker BeFree, CTD_human 51204 TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I umls:C0023264 Leigh Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 6869 TACR1 tachykinin receptor 1 umls:C0005586 Bipolar Disorder 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 6869 TACR1 tachykinin receptor 1 umls:C0042963 Vomiting 0.210283504570094 2 Biomarker BeFree, CTD_human 6876 TAGLN transgelin umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 8407 TAGLN2 transgelin 2 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 50833 TAS2R16 taste receptor, type 2, member 16 umls:C0001973 Alcoholism 0.210283504570094 2 Biomarker BeFree, CTD_human 6905 TBCE tubulin folding cofactor E umls:C1855648 Kenny-Caffey syndrome, Type 1 0.210283504570094 1 Biomarker BeFree, CTD_human 6905 TBCE tubulin folding cofactor E umls:C0029464 Osteosclerosis 0.210283504570094 2 Biomarker BeFree, CTD_human 30009 TBX21 T-box 21 umls:C1319853 Asthma, Aspirin-Induced 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 6915 TBXA2R thromboxane A2 receptor umls:C0035455 Rhinitis 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 6925 TCF4 transcription factor 4 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 1 Biomarker BeFree, CTD_human 6925 TCF4 transcription factor 4 umls:C0036572 Seizures 0.210283504570094 2 Biomarker BeFree, CTD_human 79600 TCTN1 tectonic family member 1 umls:C0431399 Agenesis of Cerebellar Vermis 0.210283504570094 1 Biomarker BeFree, CTD_human 23424 TDRD7 tudor domain containing 7 umls:C0086543 Cataract 0.210283504570094 1 Biomarker BeFree, CTD_human 23424 TDRD7 tudor domain containing 7 umls:C0017601 Glaucoma 0.210283504570094 1 Biomarker BeFree, CTD_human 9895 TECPR2 tectonin beta-propeller repeat containing 2 umls:C0037771 Paraparesis, Spastic 0.210283504570094 1 Biomarker BeFree, CTD_human 7010 TEK TEK tyrosine kinase, endothelial umls:C0018923 Hemangiosarcoma 0.210283504570094 2 Biomarker BeFree, CTD_human 7011 TEP1 telomerase-associated protein 1 umls:C0024121 Lung Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 7012 TERC telomerase RNA component umls:C0007137 Carcinoma, Squamous Cell 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 7015 TERT telomerase reverse transcriptase umls:C0206686 Adrenocortical Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 54790 TET2 tet methylcytosine dioxygenase 2 umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 2 Biomarker BeFree, CTD_human 54790 TET2 tet methylcytosine dioxygenase 2 umls:C0079774 Lymphoma, T-Cell, Peripheral 0.210283504570094 3 Biomarker BeFree, CTD_human 10342 TFG TRK-fused gene umls:C1275278 Chondrosarcoma, Extraskeletal Myxoid 0.210283504570094 1 Biomarker BeFree, CTD_human 7035 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) umls:C0001883 Airway Obstruction 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 7980 TFPI2 tissue factor pathway inhibitor 2 umls:C0029408 Osteoarthritis 0.210283504570094 1 Biomarker BeFree, CTD_human 7036 TFR2 transferrin receptor 2 umls:C0005283 beta-Thalassemia 0.210283504570094 1 Biomarker BeFree, CTD_human 7037 TFRC transferrin receptor umls:C1458155 Breast Neoplasms 0.210283504570094 3 Biomarker BeFree, CTD_human 7038 TG thyroglobulin umls:C0013336 Dwarfism 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 7039 TGFA transforming growth factor, alpha umls:C0018671 Head and Neck Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 7039 TGFA transforming growth factor, alpha umls:C0206624 Hepatoblastoma 0.210283504570094 2 Biomarker BeFree, CTD_human 7039 TGFA transforming growth factor, alpha umls:C0162770 Hypertrophy, Right Ventricular 0.210283504570094 2 Biomarker BeFree, CTD_human 7039 TGFA transforming growth factor, alpha umls:C0038356 Stomach Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0158266 Intervertebral Disc Degeneration 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0243026 Sepsis 0.210283504570094 2 Biomarker BeFree, CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0037286 Skin Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0018798 Heart Defects, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 7050 TGIF1 TGFB-induced factor homeobox 1 umls:C1854310 Hypotrichosis simplex 0.210283504570094 1 Biomarker BeFree, CTD_human 7051 TGM1 transglutaminase 1 umls:C0013238 Dry Eye Syndromes 0.210283504570094 2 Biomarker BeFree, CTD_human 7052 TGM2 transglutaminase 2 umls:C0006118 Brain Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 7052 TGM2 transglutaminase 2 umls:C0017636 Glioblastoma 0.210283504570094 3 Biomarker, Therapeutic BeFree, CTD_human 7052 TGM2 transglutaminase 2 umls:C0029408 Osteoarthritis 0.210283504570094 2 Biomarker BeFree, CTD_human 7054 TH tyrosine hydroxylase umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 7056 THBD thrombomodulin umls:C0034065 Pulmonary Embolism 0.210283504570094 2 Biomarker BeFree, CTD_human 7057 THBS1 thrombospondin 1 umls:C0036341 Schizophrenia 0.210283504570094 2 Biomarker BeFree, CTD_human 387357 THEMIS thymocyte selection associated umls:C0007570 Celiac Disease 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 148022 TICAM1 toll-like receptor adaptor molecule 1 umls:C0035235 Respiratory Syncytial Virus Infections 0.210283504570094 1 Biomarker BeFree, CTD_human 26519 TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast) umls:C0035412 Rhabdomyosarcoma 0.210283504570094 1 Biomarker BeFree, CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0034069 Pulmonary Fibrosis 0.210283504570094 2 Biomarker BeFree, CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0042345 Varicose Veins 0.210283504570094 2 Biomarker BeFree, CTD_human 7091 TLE4 transducin-like enhancer of split 4 umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 7096 TLR1 toll-like receptor 1 umls:C0017661 Glomerulonephritis, IGA 0.210283504570094 2 Biomarker BeFree, CTD_human 7099 TLR4 toll-like receptor 4 umls:C0279628 Adenocarcinoma Of Esophagus 0.210283504570094 2 Biomarker BeFree, CTD_human 53345 TM6SF2 transmembrane 6 superfamily member 2 umls:C0027051 Myocardial Infarction 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 53345 TM6SF2 transmembrane 6 superfamily member 2 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 54499 TMCO1 transmembrane and coiled-coil domains 1 umls:C0017612 Glaucoma, Open-Angle 0.210283504570094 1 Biomarker BeFree, CTD_human 23671 TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 91147 TMEM67 transmembrane protein 67 umls:C1691228 Kidney Diseases, Cystic 0.210283504570094 2 Biomarker BeFree, CTD_human 54968 TMEM70 transmembrane protein 70 umls:C0878544 Cardiomyopathies 0.210283504570094 2 Biomarker BeFree, CTD_human 7110 TMF1 TATA element modulatory factor 1 umls:C0033578 Prostatic Neoplasms 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0340288 Angina, Stable 0.210283504570094 2 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0003869 Arthritis, Infectious 0.210283504570094 2 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0007138 Carcinoma, Transitional Cell 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0008370 Cholestasis 0.210283504570094 3 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0343755 HIV Wasting Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0268318 Intrahepatic Cholestasis of Pregnancy 0.210283504570094 2 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0030193 Pain 0.210283504570094 3 Biomarker BeFree, CTD_human 7124 TNF tumor necrosis factor umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 25816 TNFAIP8 tumor necrosis factor, alpha-induced protein 8 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 1 Biomarker BeFree, CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0001418 Adenocarcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0041948 Uremia 0.210283504570094 2 Biomarker BeFree, CTD_human 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0032285 Pneumonia 0.210283504570094 2 Biomarker BeFree, CTD_human 7293 TNFRSF4 tumor necrosis factor receptor superfamily, member 4 umls:C0004364 Autoimmune Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0030297 Pancreatic Neoplasms 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 8741 TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C0018801 Heart Failure 0.210283504570094 3 Biomarker BeFree, CTD_human 7153 TOP2A topoisomerase (DNA) II alpha 170kDa umls:C0206686 Adrenocortical Carcinoma 0.210283504570094 1 Biomarker BeFree, CTD_human 7157 TP53 tumor protein p53 umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 7157 TP53 tumor protein p53 umls:C0022783 Vulvar Lichen Sclerosus 0.210283504570094 2 Biomarker BeFree, CTD_human 9540 TP53I3 tumor protein p53 inducible protein 3 umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 8626 TP63 tumor protein p63 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 2 Biomarker BeFree, CTD_human 8626 TP63 tumor protein p63 umls:C0018566 Hand Deformities, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 7166 TPH1 tryptophan hydroxylase 1 umls:C0020542 Hypertension, Pulmonary 0.210283504570094 2 Biomarker BeFree, CTD_human 7168 TPM1 tropomyosin 1 (alpha) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 11277 TREX1 three prime repair exonuclease 1 umls:C0006111 Brain Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 10221 TRIB1 tribbles pseudokinase 1 umls:C1956346 Coronary Artery Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 23321 TRIM2 tripartite motif containing 2 umls:C0029408 Osteoarthritis 0.210283504570094 1 Biomarker BeFree, CTD_human 8805 TRIM24 tripartite motif containing 24 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 2 Biomarker BeFree, CTD_human 7204 TRIO trio Rho guanine nucleotide exchange factor umls:C0023467 Leukemia, Myeloid, Acute 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 4567 TRNL1 tRNA umls:C0001125 Acidosis, Lactic 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 4574 TRNS1 tRNA umls:C0162671 MELAS Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 8989 TRPA1 transient receptor potential cation channel, subfamily A, member 1 umls:C0030193 Pain 0.210283504570094 2 Biomarker BeFree, CTD_human 7222 TRPC3 transient receptor potential cation channel, subfamily C, member 3 umls:C0005586 Bipolar Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 7222 TRPC3 transient receptor potential cation channel, subfamily C, member 3 umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 7224 TRPC5 transient receptor potential cation channel, subfamily C, member 5 umls:C0020538 Hypertension 0.210283504570094 2 Biomarker BeFree, CTD_human 7227 TRPS1 trichorhinophalangeal syndrome I umls:C0005941 Bone Diseases, Developmental 0.210283504570094 2 Biomarker BeFree, CTD_human 7227 TRPS1 trichorhinophalangeal syndrome I umls:C0007097 Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 7227 TRPS1 trichorhinophalangeal syndrome I umls:C0376634 Craniofacial Abnormalities 0.210283504570094 2 Biomarker BeFree, CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0014556 Epilepsy, Temporal Lobe 0.210283504570094 2 Biomarker BeFree, CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0018834 Heartburn 0.210283504570094 2 Biomarker BeFree, CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0027651 Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0030305 Pancreatitis 0.210283504570094 2 Biomarker BeFree, CTD_human 8295 TRRAP transformation/transcription domain-associated protein umls:C0025202 Melanoma 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 85480 TSLP thymic stromal lymphopoietin umls:C0017662 Glomerulonephritis, Membranoproliferative 0.210283504570094 2 Biomarker BeFree, CTD_human 54902 TTC19 tetratricopeptide repeat domain 19 umls:C0524851 Neurodegenerative Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 79809 TTC21B tetratricopeptide repeat domain 21B umls:C0022658 Kidney Diseases 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 80185 TTI2 TELO2 interacting protein 2 umls:C3714756 Intellectual Disability 0.210283504570094 2 Biomarker BeFree, CTD_human 7273 TTN titin umls:C2673677 Myopathy, Early-Onset, with Fatal Cardiomyopathy 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0027765 Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 10381 TUBB3 tubulin, beta 3 class III umls:C1458155 Breast Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 7283 TUBG1 tubulin, gamma 1 umls:C1955869 Malformations of Cortical Development 0.210283504570094 2 Biomarker BeFree, CTD_human 7291 TWIST1 twist family bHLH transcription factor 1 umls:C0206180 Lymphoma, Large-Cell, Anaplastic 0.210283504570094 1 AlteredExpression, Biomarker BeFree, CTD_human 7295 TXN thioredoxin umls:C0023895 Liver Diseases 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 81567 TXNDC5 thioredoxin domain containing 5 (endoplasmic reticulum) umls:C0003873 Arthritis, Rheumatoid 0.210283504570094 2 Biomarker BeFree, CTD_human 10628 TXNIP thioredoxin interacting protein umls:C0014175 Endometriosis 0.210283504570094 2 Biomarker BeFree, CTD_human 7296 TXNRD1 thioredoxin reductase 1 umls:C0014544 Epilepsy 0.210283504570094 2 Biomarker BeFree, CTD_human 1890 TYMP thymidine phosphorylase umls:C0279626 Esophageal Squamous Cell Carcinoma 0.210283504570094 2 Biomarker BeFree, CTD_human 7303 TYS sclerotylosis umls:C0406767 Sclerotylosis 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 7345 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) umls:C0014859 Esophageal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 7349 UCN urocortin umls:C0020538 Hypertension 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0007786 Brain Ischemia 0.210283504570094 2 Biomarker BeFree, CTD_human 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0038454 Stroke 0.210283504570094 2 GeneticVariation, Therapeutic BeFree, CTD_human 8633 UNC5C unc-5 homolog C (C. elegans) umls:C0007134 Carcinoma, Renal Cell 0.210283504570094 1 Biomarker BeFree, CTD_human 7374 UNG uracil-DNA glycosylase umls:C0005859 Bloom Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 391051 UOX urate oxidase, pseudogene umls:C0041364 Tumor Lysis Syndrome 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 65109 UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) umls:C1136249 Mental Retardation, X-Linked 0.210283504570094 2 Biomarker BeFree, CTD_human 27089 UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa umls:C1852372 Mitochondrial Complex III Deficiency 0.210283504570094 1 Biomarker BeFree, CTD_human 83844 USP26 ubiquitin specific peptidase 26 umls:C1384583 Sertoli Cell-Only Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 170593 UVM2 Melanoma, uveal, susceptibility to, 2 umls:C0220633 Uveal melanoma 0.210283504570094 1 Biomarker BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0008677 Bronchitis, Chronic 0.210283504570094 2 Biomarker BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0887833 Carcinoma, Pancreatic Ductal 0.210283504570094 2 Biomarker BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0018799 Heart Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0027659 Neoplasms, Experimental 0.210283504570094 3 Biomarker, Therapeutic BeFree, CTD_human 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C0024121 Lung Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 55829 VIMP VCP-interacting membrane protein umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.210283504570094 1 Biomarker BeFree, CTD_human 7432 VIP vasoactive intestinal peptide umls:C0004352 Autistic Disorder 0.210283504570094 2 Biomarker BeFree, CTD_human 7432 VIP vasoactive intestinal peptide umls:C0013080 Down Syndrome 0.210283504570094 2 Biomarker BeFree, CTD_human 8876 VNN1 vanin 1 umls:C0021390 Inflammatory Bowel Diseases 0.210283504570094 2 Biomarker, Therapeutic BeFree, CTD_human 8876 VNN1 vanin 1 umls:C0033860 Psoriasis 0.210283504570094 1 Biomarker BeFree, CTD_human 8875 VNN2 vanin 2 umls:C0033860 Psoriasis 0.210283504570094 1 Biomarker BeFree, CTD_human 30813 VSX1 visual system homeobox 1 umls:C0376634 Craniofacial Abnormalities 0.210283504570094 1 Biomarker, GeneticVariation BeFree, CTD_human 51057 WDPCP WD repeat containing planar cell polarity effector umls:C0752166 Bardet-Biedl Syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 57539 WDR35 WD repeat domain 35 umls:C0010278 Craniosynostoses 0.210283504570094 2 Biomarker BeFree, CTD_human 58189 WFDC1 WAP four-disulfide core domain 1 umls:C0025202 Melanoma 0.210283504570094 2 Biomarker BeFree, CTD_human 7468 WHSC1 Wolf-Hirschhorn syndrome candidate 1 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.210283504570094 1 Biomarker, Therapeutic BeFree, CTD_human 11197 WIF1 WNT inhibitory factor 1 umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 65125 WNK1 WNK lysine deficient protein kinase 1 umls:C0022658 Kidney Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 65125 WNK1 WNK lysine deficient protein kinase 1 umls:C0031117 Peripheral Nervous System Diseases 0.210283504570094 2 Biomarker BeFree, CTD_human 65125 WNK1 WNK lysine deficient protein kinase 1 umls:C0033805 Pseudohypoaldosteronism 0.210283504570094 2 Biomarker BeFree, CTD_human 65266 WNK4 WNK lysine deficient protein kinase 4 umls:C0033805 Pseudohypoaldosteronism 0.210283504570094 2 Biomarker BeFree, CTD_human 7490 WT1 Wilms tumor 1 umls:C0019284 Hernia, Diaphragmatic 0.210283504570094 2 Biomarker BeFree, CTD_human 7490 WT1 Wilms tumor 1 umls:C0235833 Hernias, Diaphragmatic, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 7494 XBP1 X-box binding protein 1 umls:C0015695 Fatty Liver 0.210283504570094 2 Biomarker BeFree, CTD_human 7494 XBP1 X-box binding protein 1 umls:C0017638 Glioma 0.210283504570094 1 Biomarker BeFree, CTD_human 7494 XBP1 X-box binding protein 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.210283504570094 2 Biomarker BeFree, CTD_human 7498 XDH xanthine dehydrogenase umls:C0018801 Heart Failure 0.210283504570094 2 Biomarker BeFree, CTD_human 331 XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase umls:C1862939 Amyotrophic lateral sclerosis 1 0.210283504570094 2 Biomarker BeFree, CTD_human 7515 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 umls:C0038362 Stomatitis 0.210283504570094 2 Biomarker, GeneticVariation BeFree, CTD_human 26137 ZBTB20 zinc finger and BTB domain containing 20 umls:C0796121 Primrose syndrome 0.210283504570094 1 Biomarker BeFree, CTD_human 54503 ZDHHC13 zinc finger, DHHC-type containing 13 umls:C0029456 Osteoporosis 0.210283504570094 2 Biomarker BeFree, CTD_human 9839 ZEB2 zinc finger E-box binding homeobox 2 umls:C0018798 Heart Defects, Congenital 0.210283504570094 2 Biomarker BeFree, CTD_human 7538 ZFP36 ZFP36 ring finger protein umls:C0011603 Dermatitis 0.210283504570094 2 Biomarker BeFree, CTD_human 10269 ZMPSTE24 zinc metallopeptidase STE24 umls:C0917990 Acro-Osteolysis 0.210283504570094 3 Biomarker BeFree, CTD_human 10269 ZMPSTE24 zinc metallopeptidase STE24 umls:C0017668 Glomerulosclerosis, Focal Segmental 0.210283504570094 1 Biomarker BeFree, CTD_human 10771 ZMYND11 zinc finger, MYND-type containing 11 umls:C0004352 Autistic Disorder 0.210283504570094 1 Biomarker BeFree, CTD_human 7571 ZNF23 zinc finger protein 23 umls:C2239176 Carcinoma, Hepatocellular 0.210283504570094 1 Biomarker BeFree, CTD_human 148266 ZNF569 zinc finger protein 569 umls:C0009404 Colorectal Neoplasms 0.210283504570094 2 Biomarker BeFree, CTD_human 7552 ZNF711 zinc finger protein 711 umls:C1136249 Mental Retardation, X-Linked 0.210283504570094 2 Biomarker BeFree, CTD_human 2896 GRN granulin umls:C0282513 Aphasia, Primary Progressive 0.210197267349743 11 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 146167 SLC38A8 solute carrier family 38, member 8 umls:C3807873 FOVEAL HYPOPLASIA 2 0.21 2 GeneticVariation UNIPROT 7044 LEFTY2 left-right determination factor 2 umls:C1537561 LEFT-RIGHT DETERMINATION FACTOR 2 0.21 1 GeneticVariation UNIPROT 10059 DNM1L dynamin 1-like umls:C3280660 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 0.21 1 GeneticVariation UNIPROT 5193 PEX12 peroxisomal biogenesis factor 12 umls:C3550693 PEROXISOME BIOGENESIS DISORDER 3B 0.21 0 GeneticVariation UNIPROT 7015 TERT telomerase reverse transcriptase umls:C3151443 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 0.21 0 GeneticVariation UNIPROT 8557 TCAP titin-cap umls:C3495498 Cardiomyopathy, Familial Hypertrophic, 1 0.21 0 GeneticVariation UNIPROT 5205 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 umls:C3549845 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 0.21 0 GeneticVariation UNIPROT 10758 TRAF3IP2 TRAF3 interacting protein 2 umls:C3279754 PSORIASIS SUSCEPTIBILITY 13 0.21 0 GeneticVariation UNIPROT 10758 TRAF3IP2 TRAF3 interacting protein 2 umls:C3714992 CANDIDIASIS, FAMILIAL, 8 0.21 0 GeneticVariation UNIPROT 9997 SCO2 SCO2 cytochrome c oxidase assembly protein umls:C2681911 MYOPIA 6 0.21 0 GeneticVariation UNIPROT 9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 umls:C3553977 HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA 0.21 1 GeneticVariation UNIPROT 4976 OPA1 optic atrophy 1 (autosomal dominant) umls:C3276549 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 0.21 0 GeneticVariation UNIPROT 8323 FZD6 frizzled class receptor 6 umls:C3279974 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 0.21 1 GeneticVariation UNIPROT 7547 ZIC3 Zic family member 3 umls:C2931228 VACTERL association with hydrocephaly, X-linked 0.21 0 GeneticVariation UNIPROT 10324 KLHL41 kelch-like family member 41 umls:C3810384 NEMALINE MYOPATHY 9 0.21 1 GeneticVariation UNIPROT 3769 KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13 umls:C3280062 LEBER CONGENITAL AMAUROSIS 16 0.21 0 GeneticVariation UNIPROT 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C1866079 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 0.21 0 GeneticVariation UNIPROT 374291 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) umls:C1838979 Mitochondrial complex I deficiency 0.21 1 GeneticVariation UNIPROT 7399 USH2A Usher syndrome 2A (autosomal recessive, mild) umls:C3151138 RETINITIS PIGMENTOSA 39 0.21 0 GeneticVariation UNIPROT 8989 TRPA1 transient receptor potential cation channel, subfamily A, member 1 umls:C3808667 EPISODIC PAIN SYNDROME, FAMILIAL, 1 0.21 1 GeneticVariation UNIPROT 7466 WFS1 Wolfram syndrome 1 (wolframin) umls:C3805412 CATARACT 41 0.21 0 GeneticVariation UNIPROT 7466 WFS1 Wolfram syndrome 1 (wolframin) umls:C3280358 Wolfram-Like Syndrome, Autosomal Dominant 0.21 0 GeneticVariation UNIPROT 26229 B3GAT3 beta-1,3-glucuronyltransferase 3 umls:C3278404 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS 0.21 1 GeneticVariation UNIPROT 6793 STK10 serine/threonine kinase 10 umls:C1336708 Testicular Germ Cell Tumor 0.21 1 GeneticVariation UNIPROT 9217 VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C umls:C1854058 Spinal Muscular Atrophy, Late-Onset, Finkel Type 0.21 0 GeneticVariation UNIPROT 9563 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) umls:C3551716 CORTISONE REDUCTASE DEFICIENCY 1 0.21 2 GeneticVariation UNIPROT 9119 KRT75 keratin 75, type II umls:C0406468 Loose Anagen Hair Syndrome 0.21 1 GeneticVariation UNIPROT 4508 ATP6 ATP synthase F0 subunit 6 umls:C1839022 Striatonigral Degeneration, Infantile, Mitochondrial 0.21 0 GeneticVariation UNIPROT 4508 ATP6 ATP synthase F0 subunit 6 umls:C1537983 ATP SYNTHASE 6 0.21 0 GeneticVariation UNIPROT 718 C3 complement component 3 umls:C3151071 Complement Component 3 Deficiency, Autosomal Recessive 0.21 0 GeneticVariation UNIPROT 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C1842036 Giant pigmented hairy nevus 0.21 0 GeneticVariation UNIPROT 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0544862 Neurocutaneous melanosis 0.21 0 GeneticVariation UNIPROT 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C2674723 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV 0.21 0 GeneticVariation UNIPROT 4878 NPPA natriuretic peptide A umls:C3810401 ATRIAL STANDSTILL 2 0.21 1 GeneticVariation UNIPROT 3972 LHB luteinizing hormone beta polypeptide umls:C1416842 LUTEINIZING HORMONE, BETA POLYPEPTIDE 0.21 1 GeneticVariation UNIPROT 3630 INS insulin umls:C1337112 INSULIN 0.21 0 GeneticVariation UNIPROT 1280 COL2A1 collagen, type II, alpha 1 umls:C0410480 Avascular necrosis of the head of femur 0.21 0 GeneticVariation UNIPROT 1281 COL3A1 collagen, type III, alpha 1 umls:C1853365 Aortic Aneurysm, Familial Abdominal 1 0.21 0 GeneticVariation UNIPROT 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C1838990 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 0.21 0 GeneticVariation UNIPROT 4536 ND2 MTND2 umls:C1838990 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 0.21 0 GeneticVariation UNIPROT 4537 ND3 NADH dehydrogenase, subunit 3 (complex I) umls:C1838979 Mitochondrial complex I deficiency 0.21 0 GeneticVariation UNIPROT 4538 ND4 NADH dehydrogenase, subunit 4 (complex I) umls:C1839040 Marsden syndrome 0.21 0 GeneticVariation UNIPROT 4540 ND5 NADH dehydrogenase, subunit 5 (complex I) umls:C1838979 Mitochondrial complex I deficiency 0.21 0 GeneticVariation UNIPROT 4541 ND6 NADH dehydrogenase, subunit 6 (complex I) umls:C1838979 Mitochondrial complex I deficiency 0.21 0 GeneticVariation UNIPROT 4541 ND6 NADH dehydrogenase, subunit 6 (complex I) umls:C1839040 Marsden syndrome 0.21 0 GeneticVariation UNIPROT 4509 ATP8 ATP synthase F0 subunit 8 umls:C1537984 ATP SYNTHASE 8 0.21 1 GeneticVariation UNIPROT 338 APOB apolipoprotein B umls:C1862598 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 0.21 0 GeneticVariation UNIPROT 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C1334899 GLUCOCORTICOID RECEPTOR 0.21 0 GeneticVariation UNIPROT 3426 CFI complement factor I umls:C3809523 MACULAR DEGENERATION, AGE-RELATED, 13 0.21 0 GeneticVariation UNIPROT 6906 SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 umls:C1420598 THYROXINE-BINDING GLOBULIN OF SERUM 0.21 6 GeneticVariation UNIPROT 7389 UROD uroporphyrinogen decarboxylase umls:C1421374 UROPORPHYRINOGEN DECARBOXYLASE 0.21 14 GeneticVariation UNIPROT 5925 RB1 retinoblastoma 1 umls:C0080113 Retinoblastoma Protein 0.21 9 GeneticVariation UNIPROT 5836 PYGL phosphorylase, glycogen, liver umls:C1419156 GLYCOGEN STORAGE DISEASE VI 0.21 1 GeneticVariation UNIPROT 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C1336839 Type 1 Papillary Renal Cell Carcinoma 0.21 0 GeneticVariation UNIPROT 5162 PDHB pyruvate dehydrogenase (lipoamide) beta umls:C3279841 Pyruvate Dehydrogenase E1-Beta Deficiency 0.21 1 GeneticVariation UNIPROT 8288 EPX eosinophil peroxidase umls:C1850000 Presentey Anomaly 0.21 1 GeneticVariation UNIPROT 1301 COL11A1 collagen, type XI, alpha 1 umls:C3278138 FIBROCHONDROGENESIS 1 0.21 0 GeneticVariation UNIPROT 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C3279790 Atrial Septal Defect 3 0.21 0 GeneticVariation UNIPROT 3459 IFNGR1 interferon gamma receptor 1 umls:C3266863 Mycobacterial disease, Mendelian susceptibility to 0.21 2 GeneticVariation UNIPROT 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C2931244 Craniometaphyseal dysplasia, autosomal recessive type 0.21 0 GeneticVariation UNIPROT 54657 UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 umls:C2931132 Crigler Najjar syndrome, type 2 0.21 0 GeneticVariation UNIPROT 2261 FGFR3 fibroblast growth factor receptor 3 umls:C1336708 Testicular Germ Cell Tumor 0.21 0 GeneticVariation UNIPROT 270 AMPD1 adenosine monophosphate deaminase 1 umls:C3714933 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 0.21 1 GeneticVariation UNIPROT 2984 GUCY2C guanylate cyclase 2C umls:C3553270 DIARRHEA 6 0.21 0 GeneticVariation UNIPROT 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C3807295 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 0.21 0 GeneticVariation UNIPROT 5080 PAX6 paired box 6 umls:C3805604 FOVEAL HYPOPLASIA 1 0.21 0 GeneticVariation UNIPROT 939 CD27 CD27 molecule umls:C3554540 LYMPHOPROLIFERATIVE SYNDROME 2 0.21 1 GeneticVariation UNIPROT 2657 GDF1 growth differentiation factor 1 umls:C3151221 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3 0.21 0 GeneticVariation UNIPROT 6389 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) umls:C3150898 CARDIOMYOPATHY, DILATED, 1GG 0.21 0 GeneticVariation UNIPROT 208 AKT2 v-akt murine thymoma viral oncogene homolog 2 umls:C3278384 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 0.21 0 GeneticVariation UNIPROT 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C3280112 MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE 0.21 0 GeneticVariation UNIPROT 875 CBS cystathionine-beta-synthase umls:C1439329 CYSTATHIONINE BETA-SYNTHASE 0.21 25 GeneticVariation UNIPROT 88 ACTN2 actinin, alpha 2 umls:C3495498 Cardiomyopathy, Familial Hypertrophic, 1 0.21 0 GeneticVariation UNIPROT 3155 HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase umls:C1415614 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY 0.21 9 GeneticVariation UNIPROT 5277 PIGA phosphatidylinositol glycan anchor biosynthesis, class A umls:C3806670 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 0.21 0 GeneticVariation UNIPROT 4352 MPL MPL proto-oncogene, thrombopoietin receptor umls:C3275998 THROMBOCYTHEMIA 2 0.21 0 GeneticVariation UNIPROT 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C3160732 RENAL CELL CARCINOMA, NONPAPILLARY 0.21 0 GeneticVariation UNIPROT 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C3554518 COWDEN SYNDROME 5 0.21 0 GeneticVariation UNIPROT 9782 MATR3 matrin 3 umls:C3807521 AMYOTROPHIC LATERAL SCLEROSIS 21 0.21 2 GeneticVariation UNIPROT 10161 LPAR6 lysophosphatidic acid receptor 6 umls:C3279470 Hypotrichosis, Localized, Autosomal Recessive, 3 0.21 1 GeneticVariation UNIPROT 4891 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 umls:C3806153 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 0.21 3 GeneticVariation UNIPROT 3795 KHK ketohexokinase (fructokinase) umls:C1416630 FRUCTOSURIA, ESSENTIAL 0.21 1 GeneticVariation UNIPROT 2077 ERF Ets2 repressor factor umls:C3806917 CRANIOSYNOSTOSIS 4 0.21 1 GeneticVariation UNIPROT 477 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide umls:C3549447 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 0.21 0 GeneticVariation UNIPROT 1482 NKX2-5 NK2 homeobox 5 umls:C3280795 HYPOPLASTIC LEFT HEART SYNDROME 2 0.21 0 GeneticVariation UNIPROT 4901 NRL neural retina leucine zipper umls:C1417848 NEURAL RETINA LEUCINE ZIPPER 0.21 0 GeneticVariation UNIPROT 2253 FGF8 fibroblast growth factor 8 (androgen-induced) umls:C3552574 HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 0.21 2 GeneticVariation UNIPROT 514 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit umls:C3279708 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 0.21 1 GeneticVariation UNIPROT 859 CAV3 caveolin 3 umls:C3280443 MYOPATHY, DISTAL, TATEYAMA TYPE 0.21 0 GeneticVariation UNIPROT 6663 SOX10 SRY (sex determining region Y)-box 10 umls:C2700405 WAARDENBURG SYNDROME, TYPE 2E 0.21 0 GeneticVariation UNIPROT 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C3279690 MOYAMOYA DISEASE 5 0.21 0 GeneticVariation UNIPROT 2778 GNAS GNAS complex locus umls:C1857451 Acth-Independent Macronodular Adrenal Hyperplasia 0.21 0 GeneticVariation UNIPROT 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C3151431 ATRIAL FIBRILLATION, FAMILIAL, 9 0.21 0 GeneticVariation UNIPROT 72 ACTG2 actin, gamma 2, smooth muscle, enteric umls:C1835084 Megaduodenum and/or Megacystis 0.21 3 GeneticVariation UNIPROT 2778 GNAS GNAS complex locus umls:C1366550 STIMULATORY G PROTEIN 0.21 1 GeneticVariation UNIPROT 4329 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 umls:C3279840 Methylmalonate Semialdehyde Dehydrogenase Deficiency 0.21 1 GeneticVariation UNIPROT 2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1 umls:C3552335 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1 0.21 1 GeneticVariation UNIPROT 3702 ITK IL2-inducible T-cell kinase umls:C3552634 LYMPHOPROLIFERATIVE SYNDROME 1 0.21 1 GeneticVariation UNIPROT 444 ASPH aspartate beta-hydroxylase umls:C1832167 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 0.21 1 GeneticVariation UNIPROT 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C3806402 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 0.21 6 GeneticVariation UNIPROT 7941 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) umls:C3280315 Platelet-Activating Factor Acetylhydrolase Deficiency 0.21 2 GeneticVariation UNIPROT 8772 FADD Fas (TNFRSF6)-associated via death domain umls:C3151062 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS 0.21 1 GeneticVariation UNIPROT 2516 NR5A1 nuclear receptor subfamily 5, group A, member 1 umls:C1417838 ADRENOCORTICAL INSUFFICIENCY 0.21 0 GeneticVariation UNIPROT 10381 TUBB3 tubulin, beta 3 class III umls:C3808397 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 0.21 0 GeneticVariation UNIPROT 8419 BFSP2 beaded filament structural protein 2, phakinin umls:C3808115 CATARACT 12, MULTIPLE TYPES 0.21 1 GeneticVariation UNIPROT 779 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit umls:C1866077 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 0.21 0 GeneticVariation UNIPROT 23513 SCRIB scribbled planar cell polarity protein umls:C0027794 Neural Tube Defects 0.21 1 GeneticVariation UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C2751898 Ventricular Fibrillation, Paroxysmal Familial, 1 0.21 0 GeneticVariation UNIPROT 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C3151464 ATRIAL FIBRILLATION, FAMILIAL, 10 0.21 0 GeneticVariation UNIPROT 4053 LTBP2 latent transforming growth factor beta binding protein 2 umls:C3553785 WEILL-MARCHESANI SYNDROME 3 0.21 1 GeneticVariation UNIPROT 220296 HEPACAM hepatic and glial cell adhesion molecule umls:C3151356 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION 0.21 0 GeneticVariation UNIPROT 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C2675517 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 0.21 1 GeneticVariation UNIPROT 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C2751778 Generalized Epilepsy With Febrile Seizures Plus, 7 0.21 0 GeneticVariation UNIPROT 15 AANAT aralkylamine N-acetyltransferase umls:C3279991 DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO 0.21 1 GeneticVariation UNIPROT 374654 KIF7 kinesin family member 7 umls:C0265220 Pallister-Hall Syndrome 0.21 0 GeneticVariation UNIPROT 374654 KIF7 kinesin family member 7 umls:C0752166 Bardet-Biedl Syndrome 0.21 0 GeneticVariation UNIPROT 137682 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 umls:C1838979 Mitochondrial complex I deficiency 0.21 1 GeneticVariation UNIPROT 50717 DCAF8 DDB1 and CUL4 associated factor 8 umls:C1864695 Giant Axonal Neuropathy, Autosomal Dominant 0.21 1 GeneticVariation UNIPROT 126410 CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 umls:C1858133 Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 0.21 1 GeneticVariation UNIPROT 121391 KRT74 keratin 74, type II umls:C3554117 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE 0.21 0 GeneticVariation UNIPROT 79809 TTC21B tetratricopeptide repeat domain 21B umls:C0752166 Bardet-Biedl Syndrome 0.21 0 GeneticVariation UNIPROT 23646 PLD3 phospholipase D family, member 3 umls:C3810349 ALZHEIMER DISEASE 19 0.21 1 GeneticVariation UNIPROT 201163 FLCN folliculin umls:C3160732 RENAL CELL CARCINOMA, NONPAPILLARY 0.21 0 GeneticVariation UNIPROT 128674 PROKR2 prokineticin receptor 2 umls:C3550478 HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA 0.21 3 GeneticVariation UNIPROT 54756 IL17RD interleukin 17 receptor D umls:C3808975 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA 0.21 1 GeneticVariation UNIPROT 136647 MPLKIP M-phase specific PLK1 interacting protein umls:C1866504 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE 0.21 1 GeneticVariation UNIPROT 23414 ZFPM2 zinc finger protein, FOG family member 2 umls:C1857586 Conotruncal cardiac defects 0.21 0 GeneticVariation UNIPROT 128178 EDARADD EDAR-associated death domain umls:C3541517 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 0.21 0 GeneticVariation UNIPROT 128178 EDARADD EDAR-associated death domain umls:C3539920 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 0.21 0 GeneticVariation UNIPROT 23224 SYNE2 spectrin repeat containing, nuclear envelope 2 umls:C2751805 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 0.21 1 GeneticVariation UNIPROT 9896 FIG4 FIG4 phosphoinositide 5-phosphatase umls:C2675191 Polymicrogyria, Bilateral Occipital 0.21 0 GeneticVariation UNIPROT 2627 GATA6 GATA binding protein 6 umls:C1857586 Conotruncal cardiac defects 0.21 0 GeneticVariation UNIPROT 2627 GATA6 GATA binding protein 6 umls:C3280943 ATRIAL SEPTAL DEFECT 9 0.21 0 GeneticVariation UNIPROT 84634 KISS1R KISS1 receptor umls:C3805879 PRECOCIOUS PUBERTY, CENTRAL, 1 0.21 0 GeneticVariation UNIPROT 27235 COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase umls:C3714927 MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 0.21 0 GeneticVariation UNIPROT 149465 CFAP57 cilia and flagella associated protein 57 umls:C1847604 Van der Woude syndrome 2 0.21 1 GeneticVariation UNIPROT 65217 PCDH15 protocadherin-related 15 umls:C1832845 Usher Syndrome, Type ID 0.21 0 GeneticVariation UNIPROT 4653 MYOC myocilin, trabecular meshwork inducible glucocorticoid response umls:C1856439 Glaucoma 3, Primary Congenital, A 0.21 0 GeneticVariation UNIPROT 3704 ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) umls:C0342800 Inosine Triphosphatase Deficiency 0.21 1 GeneticVariation UNIPROT 59344 ALOXE3 arachidonate lipoxygenase 3 umls:C3539888 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 0.21 4 GeneticVariation UNIPROT 80114 BICC1 BicC family RNA binding protein 1 umls:C3275898 RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO 0.21 1 GeneticVariation UNIPROT 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C1838492 Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 0.21 0 GeneticVariation UNIPROT 60675 PROK2 prokineticin 2 umls:C3552343 HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 0.21 3 GeneticVariation UNIPROT 25878 MXRA5 matrix-remodelling associated 5 umls:C0684249 Carcinoma of lung 0.21 1 GeneticVariation UNIPROT 83636 C19orf12 chromosome 19 open reading frame 12 umls:C2680446 SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE 0.21 0 GeneticVariation UNIPROT 11277 TREX1 three prime repair exonuclease 1 umls:C3277619 CHILBLAIN LUPUS 1 0.21 0 GeneticVariation UNIPROT 55651 NHP2 NHP2 ribonucleoprotein umls:C3151441 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 0.21 1 GeneticVariation UNIPROT 51339 DACT1 dishevelled-binding antagonist of beta-catenin 1 umls:C0027794 Neural Tube Defects 0.21 1 GeneticVariation UNIPROT 23118 TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 umls:C3554279 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 0.21 1 GeneticVariation UNIPROT 9620 CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 umls:C0027794 Neural Tube Defects 0.21 1 GeneticVariation UNIPROT 51750 RTEL1 regulator of telomere elongation helicase 1 umls:C3554656 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 0.21 4 GeneticVariation UNIPROT 30813 VSX1 visual system homeobox 1 umls:C3280099 CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME 0.21 0 GeneticVariation UNIPROT 23767 FLRT3 fibronectin leucine rich transmembrane protein 3 umls:C3808986 HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 0.21 1 GeneticVariation UNIPROT 55636 CHD7 chromodomain helicase DNA binding protein 7 umls:C3552553 HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 0.21 0 GeneticVariation UNIPROT 22953 P2RX2 purinergic receptor P2X, ligand gated ion channel, 2 umls:C1842371 Deafness, Autosomal Dominant 41 0.21 2 GeneticVariation UNIPROT 57465 TBC1D24 TBC1 domain family, member 24 umls:C0795934 Digitorenocerebral Syndrome 0.21 0 GeneticVariation UNIPROT 4854 NOTCH3 notch 3 umls:C3809084 MYOFIBROMATOSIS, INFANTILE, 2 0.21 0 GeneticVariation UNIPROT 27247 NFU1 NFU1 iron-sulfur cluster scaffold umls:C3276432 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 0.21 1 GeneticVariation UNIPROT 23405 DICER1 dicer 1, ribonuclease type III umls:C3165522 GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS 0.21 0 GeneticVariation UNIPROT 25978 CHMP2B charged multivesicular body protein 2B umls:C1836076 Amyotrophic Lateral Sclerosis, Chmp2B-Related 0.21 0 GeneticVariation UNIPROT 617 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like umls:C3541471 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 0.21 0 GeneticVariation UNIPROT 25939 SAMHD1 SAM domain and HD domain 1 umls:C3280721 CHILBLAIN LUPUS 2 0.21 0 GeneticVariation UNIPROT 23534 TNPO3 transportin 3 umls:C1842062 Muscular Dystrophy, Limb-Girdle, Type 1F 0.21 1 GeneticVariation UNIPROT 26040 SETBP1 SET binding protein 1 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.21 0 GeneticVariation UNIPROT 2 A2M alpha-2-macroglobulin umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 2 A2M alpha-2-macroglobulin umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 2 A2M alpha-2-macroglobulin umls:C0024121 Lung Neoplasms 0.21 2 Biomarker CTD_human 53947 A4GALT alpha 1,4-galactosyltransferase umls:C0006413 Burkitt Lymphoma 0.21 1 Biomarker CTD_human 100329167 AAA1 aortic aneurysm, familial abdominal 1 umls:C1853365 Aortic Aneurysm, Familial Abdominal 1 0.21 0 Biomarker CTD_human 100505390 AAA2 Aortic aneurysm, familial abdominal 2 umls:C1853364 Aortic Aneurysm, Familial Abdominal 2 0.21 0 Biomarker CTD_human 100188857 AAA3 Aneurysm, familial abdominal 3 umls:C2678470 Aortic Aneurysm, Familial Abdominal 3 0.21 0 Biomarker CTD_human 8212 AABT Beta-amino acids, renal transport of umls:C1862289 BETA-AMINO ACIDS, RENAL TRANSPORT OF 0.21 0 Biomarker CTD_human 15 AANAT aralkylamine N-acetyltransferase umls:C0877792 Sleep Disorders, Circadian Rhythm 0.21 1 Biomarker CTD_human 10157 AASS aminoadipate-semialdehyde synthase umls:C2936921 Saccharopinuria 0.21 0 Biomarker CTD_human 252843 AAT2 Aortic aneurysm, familial thoracic 2 umls:C1846837 Aortic Aneurysm, Familial Thoracic 2 0.21 0 Biomarker CTD_human 18 ABAT 4-aminobutyrate aminotransferase umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 18 ABAT 4-aminobutyrate aminotransferase umls:C0023380 Lethargy 0.21 1 Biomarker CTD_human 18 ABAT 4-aminobutyrate aminotransferase umls:C0026827 Muscle Hypotonia 0.21 1 Biomarker CTD_human 18 ABAT 4-aminobutyrate aminotransferase umls:C0033922 Psychomotor Disorders 0.21 1 Biomarker CTD_human 18 ABAT 4-aminobutyrate aminotransferase umls:C0034933 Reflex, Abnormal 0.21 1 Biomarker CTD_human 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0745103 HYPERCHOLESTEROLEMIA, FAMILIAL 0.21 0 Biomarker CTD_human 19 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10349 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 26154 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 154664 ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 154664 ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 21 ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 23461 ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 23460 ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 23460 ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 10347 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 10351 ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10350 ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 2 Biomarker CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0014836 Escherichia coli Infections 0.21 1 Biomarker CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0020651 Hypotension, Orthostatic 0.21 1 Biomarker CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C2677101 Inflammatory Bowel Disease 13 0.21 0 Biomarker CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0004936 Mental Disorders 0.21 1 Biomarker CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0027497 Nausea 0.21 1 Biomarker CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0032343 Poisoning 0.21 1 Therapeutic CTD_human 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C0040715 Translocation, Genetic 0.21 1 Biomarker CTD_human 23456 ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 8647 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 umls:C0019250 Afibrinogenemia congenital 0.21 1 Biomarker CTD_human 8647 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 8647 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0008311 Cholangitis 0.21 1 Biomarker CTD_human 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0022354 Jaundice, Obstructive 0.21 1 Biomarker CTD_human 340273 ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10058 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10058 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 4363 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 4363 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 85320 ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 150000 ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 1244 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 8714 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 8714 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10257 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10257 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10257 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 10057 ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10057 ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 368 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 368 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 368 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 368 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6833 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10060 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 10060 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 225 ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5825 ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5826 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5826 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5826 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 5826 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 umls:C0042847 Vitamin B 12 Deficiency 0.21 1 Biomarker CTD_human 6059 ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 6059 ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23 ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 23 ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 23 ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 10061 ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 9619 ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 9619 ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 9619 ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 9429 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) umls:C0001430 Adenoma 0.21 1 Biomarker CTD_human 9429 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 9429 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 9429 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 64240 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 umls:C0242339 Dyslipidemias 0.21 1 Biomarker CTD_human 64240 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 umls:C0023772 Lipid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 64240 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10006 ABI1 abl-interactor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 25890 ABI3BP ABI family, member 3 (NESH) binding protein umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 25 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 25 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 25 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3983 ABLIM1 actin binding LIM protein 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 28 ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 137735 ABRA actin-binding Rho activating protein umls:C0007193 Cardiomyopathy, Dilated 0.21 1 Biomarker CTD_human 29777 ABT1 activator of basal transcription 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 29777 ABT1 activator of basal transcription 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 30 ACAA1 acetyl-CoA acyltransferase 1 umls:C0342870 Bifunctional peroxisomal enzyme deficiency 0.21 0 Biomarker CTD_human 10449 ACAA2 acetyl-CoA acyltransferase 2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 31 ACACA acetyl-CoA carboxylase alpha umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 27034 ACAD8 acyl-CoA dehydrogenase family, member 8 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 27034 ACAD8 acyl-CoA dehydrogenase family, member 8 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 34 ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 34 ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain umls:C0085605 Liver Failure 0.21 1 Biomarker CTD_human 34 ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 34 ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 36 ACADSB acyl-CoA dehydrogenase, short/branched chain umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 37 ACADVL acyl-CoA dehydrogenase, very long chain umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 176 ACAN aggrecan umls:C0238288 Muscular Dystrophy, Facioscapulohumeral 0.21 1 Biomarker CTD_human 38 ACAT1 acetyl-CoA acetyltransferase 1 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 84320 ACBD6 acyl-CoA binding domain containing 6 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 1636 ACE angiotensin I converting enzyme umls:C0005138 Berylliosis 0.21 1 Biomarker CTD_human 1636 ACE angiotensin I converting enzyme umls:C0011071 Death, Sudden 0.21 1 Biomarker CTD_human 1636 ACE angiotensin I converting enzyme umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 1636 ACE angiotensin I converting enzyme umls:C0020649 Hypotension 0.21 1 Therapeutic CTD_human 1636 ACE angiotensin I converting enzyme umls:C2676832 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 1636 ACE angiotensin I converting enzyme umls:C2675470 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 0.21 0 Biomarker CTD_human 1636 ACE angiotensin I converting enzyme umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 1636 ACE angiotensin I converting enzyme umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 1636 ACE angiotensin I converting enzyme umls:C0038160 Staphylococcal Infections 0.21 1 Biomarker CTD_human 59272 ACE2 angiotensin I converting enzyme 2 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 59272 ACE2 angiotensin I converting enzyme 2 umls:C0553980 Endomyocardial Fibrosis 0.21 1 Biomarker CTD_human 55331 ACER3 alkaline ceramidase 3 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0026850 Muscular Dystrophies 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0700359 Organophosphate Poisoning 0.21 3 Biomarker, Therapeutic CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0086468 Prenatal Injuries 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 43 ACHE acetylcholinesterase (Yt blood group) umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 57007 ACKR3 atypical chemokine receptor 3 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 57007 ACKR3 atypical chemokine receptor 3 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 51554 ACKR4 atypical chemokine receptor 4 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 46 ACLS acrocallosal syndrome umls:C0796147 Acrocallosal Syndrome 0.21 0 Biomarker CTD_human 47 ACLY ATP citrate lyase umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 47 ACLY ATP citrate lyase umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 48 ACO1 aconitase 1, soluble umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 48 ACO1 aconitase 1, soluble umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 50 ACO2 aconitase 2, mitochondrial umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 641371 ACOT1 acyl-CoA thioesterase 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 641371 ACOT1 acyl-CoA thioesterase 1 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 10965 ACOT2 acyl-CoA thioesterase 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 641372 ACOT6 acyl-CoA thioesterase 6 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 51 ACOX1 acyl-CoA oxidase 1, palmitoyl umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 54 ACP5 acid phosphatase 5, tartrate resistant umls:C0020503 Hyperparathyroidism, Secondary 0.21 1 Biomarker CTD_human 54 ACP5 acid phosphatase 5, tartrate resistant umls:C0432222 Spondyloenchondrodysplasia 0.21 2 Biomarker CTD_human 84519 ACRBP acrosin binding protein umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 85505 ACRPS Acropectoral syndrome umls:C1853812 Acropectoral syndrome 0.21 0 Biomarker CTD_human 414058 ACRPV Acropectorovertebral dysplasia (F syndrome) umls:C1863307 Acropectorovertebral Dysplasia, F-Form 0.21 0 Biomarker CTD_human 197322 ACSF3 acyl-CoA synthetase family member 3 umls:C0342793 Malonic aciduria 0.21 1 Biomarker CTD_human 197322 ACSF3 acyl-CoA synthetase family member 3 umls:C0268583 Methylmalonic acidemia 0.21 1 Biomarker CTD_human 2180 ACSL1 acyl-CoA synthetase long-chain family member 1 umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 2180 ACSL1 acyl-CoA synthetase long-chain family member 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 2180 ACSL1 acyl-CoA synthetase long-chain family member 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 2180 ACSL1 acyl-CoA synthetase long-chain family member 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2180 ACSL1 acyl-CoA synthetase long-chain family member 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2180 ACSL1 acyl-CoA synthetase long-chain family member 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2182 ACSL4 acyl-CoA synthetase long-chain family member 4 umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 2182 ACSL4 acyl-CoA synthetase long-chain family member 4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 51703 ACSL5 acyl-CoA synthetase long-chain family member 5 umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 23305 ACSL6 acyl-CoA synthetase long-chain family member 6 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 116285 ACSM1 acyl-CoA synthetase medium-chain family member 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 6296 ACSM3 acyl-CoA synthetase medium-chain family member 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 58 ACTA1 actin, alpha 1, skeletal muscle umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C0022116 Ischemia 0.21 1 Biomarker CTD_human 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C0023890 Liver Cirrhosis 0.21 2 Biomarker CTD_human 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 59 ACTA2 actin, alpha 2, smooth muscle, aorta umls:C1619692 Nephrogenic Fibrosing Dermopathy 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0009363 Coloboma 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0013393 Dysostoses 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0018784 Hearing Loss, Sensorineural 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0497552 Nervous System Malformations 0.21 1 Biomarker CTD_human 60 ACTB actin, beta umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 70 ACTC1 actin, alpha, cardiac muscle 1 umls:C3495498 Cardiomyopathy, Familial Hypertrophic, 1 0.21 0 Biomarker CTD_human 70 ACTC1 actin, alpha, cardiac muscle 1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 70 ACTC1 actin, alpha, cardiac muscle 1 umls:C0034951 Refractive Errors 0.21 1 Biomarker CTD_human 70 ACTC1 actin, alpha, cardiac muscle 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 71 ACTG1 actin gamma 1 umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 71 ACTG1 actin gamma 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 71 ACTG1 actin gamma 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 71 ACTG1 actin gamma 1 umls:C0009363 Coloboma 0.21 1 Biomarker CTD_human 71 ACTG1 actin gamma 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 71 ACTG1 actin gamma 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 71 ACTG1 actin gamma 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 71 ACTG1 actin gamma 1 umls:C0497552 Nervous System Malformations 0.21 1 Biomarker CTD_human 71 ACTG1 actin gamma 1 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 72 ACTG2 actin, gamma 2, smooth muscle, enteric umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 81569 ACTL8 actin-like 8 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 81 ACTN4 actinin, alpha 4 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 81 ACTN4 actinin, alpha 4 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 10097 ACTR2 ARP2 actin-related protein 2 homolog (yeast) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 140625 ACTRT2 actin-related protein T2 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 90 ACVR1 activin A receptor, type I umls:C0242488 Acute Lung Injury 0.21 1 Biomarker CTD_human 90 ACVR1 activin A receptor, type I umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 90 ACVR1 activin A receptor, type I umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 93 ACVR2B activin A receptor, type IIB umls:C0037221 Situs Inversus 0.21 1 Biomarker CTD_human 95 ACY1 aminoacylase 1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 780912 AD10 Alzheimer disease-10 umls:C0002395 Alzheimer Disease 0.21 0 Biomarker CTD_human 780912 AD10 Alzheimer disease-10 umls:C1864828 Alzheimer Disease 10 0.21 0 Biomarker CTD_human 100188795 AD11 Alzheimer disease-11 umls:C1853360 Alzheimer Disease 11 0.21 0 Biomarker CTD_human 100188830 AD12 Alzheimer disease 12 umls:C1970209 Alzheimer Disease 12 0.21 0 Biomarker CTD_human 100188837 AD13 Alzheimer disease-13 umls:C1970147 Alzheimer Disease 13 0.21 0 Biomarker CTD_human 100188754 AD14 Alzheimer disease 14 umls:C1970144 Alzheimer Disease 14 0.21 0 Biomarker CTD_human 100188838 AD15 Alzheimer disease-15 umls:C1970143 Alzheimer Disease 15 0.21 0 Biomarker CTD_human 100271718 AD16 Alzheimer disease 16 umls:C2677888 Alzheimer Disease 16 0.21 0 Biomarker CTD_human 64851 AD6 Alzheimer disease 6 umls:C0002395 Alzheimer Disease 0.21 0 Biomarker CTD_human 64851 AD6 Alzheimer disease 6 umls:C1854187 Alzheimer Disease 6 0.21 0 Biomarker CTD_human 114475 AD7 Alzheimer disease 7 umls:C1853555 Alzheimer Disease 7 0.21 0 Biomarker CTD_human 353128 AD8 Alzheimer disease 8 umls:C0002395 Alzheimer Disease 0.21 0 Biomarker CTD_human 353128 AD8 Alzheimer disease 8 umls:C1846735 Alzheimer Disease 8 0.21 0 Biomarker CTD_human 450086 AD9 Alzheimer disease 9 umls:C0002395 Alzheimer Disease 0.21 0 Biomarker CTD_human 450086 AD9 Alzheimer disease 9 umls:C1837149 Alzheimer Disease 9 0.21 0 Biomarker CTD_human 100 ADA adenosine deaminase umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 100 ADA adenosine deaminase umls:C0037928 Spinal Cord Diseases 0.21 1 Biomarker CTD_human 102 ADAM10 ADAM metallopeptidase domain 10 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 102 ADAM10 ADAM metallopeptidase domain 10 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8038 ADAM12 ADAM metallopeptidase domain 12 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6868 ADAM17 ADAM metallopeptidase domain 17 umls:C0005758 Blister 0.21 1 Biomarker CTD_human 8754 ADAM9 ADAM metallopeptidase domain 9 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 27299 ADAMDEC1 ADAM-like, decysin 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9510 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9510 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 11093 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 umls:C0398650 Purpura, Thrombocytopenic, Idiopathic 0.21 1 Biomarker CTD_human 170691 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 80070 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 9508 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 11173 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 9719 ADAMTSL2 ADAMTS-like 2 umls:C0009917 Contracture 0.21 1 Biomarker CTD_human 9719 ADAMTSL2 ADAMTS-like 2 umls:C0282631 Facies 0.21 1 Biomarker CTD_human 9719 ADAMTSL2 ADAMTS-like 2 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 9719 ADAMTSL2 ADAMTS-like 2 umls:C0018566 Hand Deformities, Congenital 0.21 1 Biomarker CTD_human 9719 ADAMTSL2 ADAMTS-like 2 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 9719 ADAMTSL2 ADAMTS-like 2 umls:C0019209 Hepatomegaly 0.21 1 Biomarker CTD_human 9719 ADAMTSL2 ADAMTS-like 2 umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 9719 ADAMTSL2 ADAMTS-like 2 umls:C0029422 Osteochondrodysplasias 0.21 1 Biomarker CTD_human 54507 ADAMTSL4 ADAMTS-like 4 umls:C3541474 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 0.21 0 Biomarker CTD_human 104 ADARB1 adenosine deaminase, RNA-specific, B1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 105 ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 56997 ADCK3 aarF domain containing kinase 3 umls:C3551954 COENZYME Q10 DEFICIENCY, PRIMARY, 1 0.21 1 Biomarker CTD_human 107 ADCY1 adenylate cyclase 1 (brain) umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 107 ADCY1 adenylate cyclase 1 (brain) umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 107 ADCY1 adenylate cyclase 1 (brain) umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 55811 ADCY10 adenylate cyclase 10 (soluble) umls:C0342639 Hypercalciuria, Absorptive, 2 0.21 0 Biomarker CTD_human 111 ADCY5 adenylate cyclase 5 umls:C0005612 Birth Weight 0.21 1 Biomarker CTD_human 111 ADCY5 adenylate cyclase 5 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 111 ADCY5 adenylate cyclase 5 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 111 ADCY5 adenylate cyclase 5 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 111 ADCY5 adenylate cyclase 5 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 111 ADCY5 adenylate cyclase 5 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 111 ADCY5 adenylate cyclase 5 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 113 ADCY7 adenylate cyclase 7 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 113 ADCY7 adenylate cyclase 7 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 114 ADCY8 adenylate cyclase 8 (brain) umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 114 ADCY8 adenylate cyclase 8 (brain) umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 116 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) umls:C0878544 Cardiomyopathies 0.21 1 Therapeutic CTD_human 116 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 116 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) umls:C0020452 Hyperemia 0.21 1 Biomarker CTD_human 116 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) umls:C0026205 Miosis 0.21 1 Biomarker CTD_human 116 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) umls:C0085631 Psychomotor Agitation 0.21 1 Biomarker CTD_human 116 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) umls:C0878773 Urinary Bladder, Overactive 0.21 1 Therapeutic CTD_human 118 ADD1 adducin 1 (alpha) umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 120 ADD3 adducin 3 (gamma) umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 120 ADD3 adducin 3 (gamma) umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 122 ADFN albinism-deafness syndrome umls:C1845068 Albinism deafness syndrome 0.21 0 Biomarker CTD_human 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0314657 Genetic Predisposition to Disease 0.21 2 Biomarker CTD_human 125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 126 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 126 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 127 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 131 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 131 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide umls:C0031347 Pharyngeal Neoplasms 0.21 1 Biomarker CTD_human 450089 ADHD3 Attention deficit-hyperactivity disorder, susceptibility to, 2 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.21 0 Biomarker CTD_human 450090 ADHD4 Attention deficit-hyperactivity disorder, susceptibility to, 4 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.21 0 Biomarker CTD_human 100190790 ADHD5 Attention deficit-hyperactivity disorder, susceptibility to, 5 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.21 0 Biomarker CTD_human 100190791 ADHD6 Attention deficit-hyperactivity disorder, susceptibility to, 6 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.21 0 Biomarker CTD_human 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C1847530 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 0.21 1 Biomarker CTD_human 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C1847529 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 0.21 1 Biomarker CTD_human 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0948480 Coronary Restenosis 0.21 1 Therapeutic CTD_human 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0010346 Crohn Disease 0.21 1 Biomarker CTD_human 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0019337 Heroin Dependence 0.21 1 Biomarker CTD_human 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Therapeutic CTD_human 9370 ADIPOQ adiponectin, C1Q and collagen domain containing umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 51094 ADIPOR1 adiponectin receptor 1 umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 79602 ADIPOR2 adiponectin receptor 2 umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 171511 ADIPQTL2 Circulating adiponectin QTL on chromosome 5 umls:C1847530 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 0.21 1 Biomarker CTD_human 171512 ADIPQTL3 Circulating adiponectin QTL on chromosome 14 umls:C1847529 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 0.21 1 Biomarker CTD_human 132 ADK adenosine kinase umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 133 ADM adrenomedullin umls:C0030193 Pain 0.21 1 Biomarker CTD_human 133 ADM adrenomedullin umls:C0038358 Stomach Ulcer 0.21 1 Therapeutic CTD_human 79924 ADM2 adrenomedullin 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 79924 ADM2 adrenomedullin 2 umls:C0042373 Vascular Diseases 0.21 1 Therapeutic CTD_human 23394 ADNP activity-dependent neuroprotector homeobox umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 134 ADORA1 adenosine A1 receptor umls:C0428977 Bradycardia 0.21 1 Biomarker CTD_human 134 ADORA1 adenosine A1 receptor umls:C0007370 Catalepsy 0.21 1 Therapeutic CTD_human 134 ADORA1 adenosine A1 receptor umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 134 ADORA1 adenosine A1 receptor umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 134 ADORA1 adenosine A1 receptor umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 134 ADORA1 adenosine A1 receptor umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Therapeutic CTD_human 134 ADORA1 adenosine A1 receptor umls:C0007787 Ischemic Attack, Transient 0.21 1 Therapeutic CTD_human 134 ADORA1 adenosine A1 receptor umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 134 ADORA1 adenosine A1 receptor umls:C0033054 Prenatal Exposure Delayed Effects 0.21 1 Biomarker CTD_human 134 ADORA1 adenosine A1 receptor umls:C0038525 Subarachnoid Hemorrhage 0.21 1 Biomarker CTD_human 134 ADORA1 adenosine A1 receptor umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 134 ADORA1 adenosine A1 receptor umls:C0242973 Ventricular Dysfunction 0.21 1 Biomarker CTD_human 135 ADORA2A adenosine A2a receptor umls:C0878544 Cardiomyopathies 0.21 1 Therapeutic CTD_human 135 ADORA2A adenosine A2a receptor umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 135 ADORA2A adenosine A2a receptor umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 135 ADORA2A adenosine A2a receptor umls:C0424295 Hyperkinesis 0.21 1 Therapeutic CTD_human 135 ADORA2A adenosine A2a receptor umls:C0020649 Hypotension 0.21 3 Biomarker CTD_human 135 ADORA2A adenosine A2a receptor umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 135 ADORA2A adenosine A2a receptor umls:C0038587 Substance Withdrawal Syndrome 0.21 3 Biomarker CTD_human 135 ADORA2A adenosine A2a receptor umls:C0040822 Tremor 0.21 1 Biomarker CTD_human 135 ADORA2A adenosine A2a receptor umls:C0242973 Ventricular Dysfunction 0.21 1 Biomarker CTD_human 140 ADORA3 adenosine A3 receptor umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 148 ADRA1A adrenoceptor alpha 1A umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 148 ADRA1A adrenoceptor alpha 1A umls:C0600519 Ventricular Remodeling 0.21 1 Biomarker CTD_human 147 ADRA1B adrenoceptor alpha 1B umls:C0018800 Cardiomegaly 0.21 2 Biomarker CTD_human 147 ADRA1B adrenoceptor alpha 1B umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 147 ADRA1B adrenoceptor alpha 1B umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 147 ADRA1B adrenoceptor alpha 1B umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 147 ADRA1B adrenoceptor alpha 1B umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 147 ADRA1B adrenoceptor alpha 1B umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 150 ADRA2A adrenoceptor alpha 2A umls:C0018800 Cardiomegaly 0.21 1 Therapeutic CTD_human 150 ADRA2A adrenoceptor alpha 2A umls:C0014544 Epilepsy 0.21 1 Therapeutic CTD_human 150 ADRA2A adrenoceptor alpha 2A umls:C0016059 Fibrosis 0.21 1 Therapeutic CTD_human 150 ADRA2A adrenoceptor alpha 2A umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 150 ADRA2A adrenoceptor alpha 2A umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 151 ADRA2B adrenoceptor alpha 2B umls:C0010520 Cyanosis 0.21 1 Biomarker CTD_human 151 ADRA2B adrenoceptor alpha 2B umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 151 ADRA2B adrenoceptor alpha 2B umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 152 ADRA2C adrenoceptor alpha 2C umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 152 ADRA2C adrenoceptor alpha 2C umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 153 ADRB1 adrenoceptor beta 1 umls:C0005612 Birth Weight 0.21 1 Biomarker CTD_human 153 ADRB1 adrenoceptor beta 1 umls:C0011849 Diabetes Mellitus 0.21 1 Biomarker CTD_human 153 ADRB1 adrenoceptor beta 1 umls:C0553980 Endomyocardial Fibrosis 0.21 1 Biomarker CTD_human 153 ADRB1 adrenoceptor beta 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 154 ADRB2 adrenoceptor beta 2, surface umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 154 ADRB2 adrenoceptor beta 2, surface umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 154 ADRB2 adrenoceptor beta 2, surface umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 154 ADRB2 adrenoceptor beta 2, surface umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 156 ADRBK1 adrenergic, beta, receptor kinase 1 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 156 ADRBK1 adrenergic, beta, receptor kinase 1 umls:C0878544 Cardiomyopathies 0.21 1 Therapeutic CTD_human 156 ADRBK1 adrenergic, beta, receptor kinase 1 umls:C0000768 Congenital Abnormalities 0.21 1 Biomarker CTD_human 156 ADRBK1 adrenergic, beta, receptor kinase 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 156 ADRBK1 adrenergic, beta, receptor kinase 1 umls:C0752351 Embryo Loss 0.21 1 Biomarker CTD_human 159 ADSS adenylosuccinate synthase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 166 AES amino-terminal enhancer of split umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 100188784 AFA1 Alopecia, androgenetic umls:C0002170 Alopecia 0.21 0 Biomarker CTD_human 171 AFD1 acrofacial dysostosis 1, Nager type umls:C0265245 Acrofacial dysostosis, Nager type 0.21 0 Biomarker CTD_human 3899 AFF3 AF4/FMR2 family, member 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 10939 AFG3L2 AFG3-like AAA ATPase 2 umls:C0751778 Myoclonic Epilepsies, Progressive 0.21 1 Biomarker CTD_human 174 AFP alpha-fetoprotein umls:C1458155 Breast Neoplasms 0.21 1 Therapeutic CTD_human 174 AFP alpha-fetoprotein umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 174 AFP alpha-fetoprotein umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 174 AFP alpha-fetoprotein umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 174 AFP alpha-fetoprotein umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 100188771 AGA2 Alopecia, androgenetic, 2 umls:C2678038 Alopecia, Androgenetic, 2 0.21 0 Biomarker CTD_human 100217387 AGA3 Alopecia, androgenetic, 3 umls:C2676272 Alopecia, Androgenetic, 3 0.21 0 Biomarker CTD_human 84871 AGBL4 ATP/GTP binding protein-like 4 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 177 AGER advanced glycosylation end product-specific receptor umls:C0020564 Hypertrophy 0.21 1 Biomarker CTD_human 177 AGER advanced glycosylation end product-specific receptor umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 177 AGER advanced glycosylation end product-specific receptor umls:C0030286 Pancreatic Diseases 0.21 1 Biomarker CTD_human 178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 179 AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) umls:C1845903 Agammaglobulinemia, X-linked, type 2 0.21 0 Biomarker CTD_human 27161 AGO2 argonaute RISC catalytic component 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 56894 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 8540 AGPS alkylglycerone phosphate synthase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 375790 AGRN agrin umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 100188767 AGSPX Angio serpiginosum umls:C0263637 Angioma serpiginosum, X-linked 0.21 0 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0002063 Alkalosis 0.21 1 Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0002871 Anemia 0.21 1 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0003460 Anuria 0.21 1 Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0003811 Arrhythmias, Cardiac 0.21 2 Biomarker, Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0428977 Bradycardia 0.21 1 Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0007192 Cardiomyopathy, Alcoholic 0.21 1 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0007370 Catalepsy 0.21 1 Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0011071 Death, Sudden 0.21 1 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0011853 Diabetes Mellitus, Experimental 0.21 3 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0029944 Drug Overdose 0.21 1 Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0553980 Endomyocardial Fibrosis 0.21 1 Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0020452 Hyperemia 0.21 1 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0020621 Hypokalemia 0.21 1 Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0020649 Hypotension 0.21 3 Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0027055 Myocardial Reperfusion Injury 0.21 2 Biomarker, Therapeutic CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0027540 Necrosis 0.21 2 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C2936380 Neointima 0.21 1 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0027720 Nephrosis 0.21 1 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0035344 Retinopathy of Prematurity 0.21 1 Biomarker CTD_human 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 23287 AGTPBP1 ATP/GTP binding protein 1 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 185 AGTR1 angiotensin II receptor, type 1 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 185 AGTR1 angiotensin II receptor, type 1 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 185 AGTR1 angiotensin II receptor, type 1 umls:C0032019 Pituitary Neoplasms 0.21 1 Biomarker CTD_human 186 AGTR2 angiotensin II receptor, type 2 umls:C0206692 Carcinoma, Lobular 0.21 1 Biomarker CTD_human 186 AGTR2 angiotensin II receptor, type 2 umls:C0853897 Diabetic Cardiomyopathies 0.21 2 Biomarker CTD_human 186 AGTR2 angiotensin II receptor, type 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 186 AGTR2 angiotensin II receptor, type 2 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 186 AGTR2 angiotensin II receptor, type 2 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 186 AGTR2 angiotensin II receptor, type 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 186 AGTR2 angiotensin II receptor, type 2 umls:C0178324 Vascular System Injuries 0.21 1 Biomarker CTD_human 64902 AGXT2 alanine--glyoxylate aminotransferase 2 umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 191 AHCY adenosylhomocysteinase umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 191 AHCY adenosylhomocysteinase umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 54806 AHI1 Abelson helper integration site 1 umls:C0007760 Cerebellar Diseases 0.21 1 Biomarker CTD_human 54806 AHI1 Abelson helper integration site 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 79026 AHNAK AHNAK nucleoprotein umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 79026 AHNAK AHNAK nucleoprotein umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0333641 Atrophy 0.21 2 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0005974 Bone Resorption 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0236811 Chronobiology Disorders 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0242339 Dyslipidemias 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0242706 Hyperoxia 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0020564 Hypertrophy 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0020578 Hyperventilation 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0023895 Liver Diseases 0.21 2 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0700501 Nystagmus, Congenital 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C2931037 Pancreatic cancer, adult 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0559470 Peanut Hypersensitivity 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0037116 Silicosis 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0037997 Splenic Diseases 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0038002 Splenomegaly 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0041955 Ureteral Neoplasms 0.21 1 Biomarker CTD_human 196 AHR aryl hydrocarbon receptor umls:C0005683 Urinary Bladder Calculi 0.21 1 Biomarker CTD_human 192 AIC Aicardi syndrome umls:C0175713 Aicardi Syndrome 0.21 0 Biomarker CTD_human 57379 AICDA activation-induced cytidine deaminase umls:C0023448 Leukemia, Lymphoid 0.21 1 Biomarker CTD_human 57379 AICDA activation-induced cytidine deaminase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 199 AIF1 allograft inflammatory factor 1 umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 199 AIF1 allograft inflammatory factor 1 umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 9131 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 9131 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 umls:C0011854 Diabetes Mellitus, Type 1 0.21 1 Biomarker CTD_human 9131 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 umls:C0027540 Necrosis 0.21 1 Therapeutic CTD_human 9131 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 umls:C0035305 Retinal Detachment 0.21 1 Biomarker CTD_human 201 AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type umls:C1845051 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 0.21 0 Biomarker CTD_human 9447 AIM2 absent in melanoma 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 373071 AIS1 autoimmune susceptibility 1 umls:C1842979 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 378426 AIS2 autoimmune susceptibility 2 umls:C1842113 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 0.21 0 Biomarker CTD_human 378427 AIS3 autoimmune susceptibility 3 (vitiligo specific) umls:C1842112 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 0.21 0 Biomarker CTD_human 619405 AIS4 autoimmune disease, susceptibility to, 4 umls:C1836258 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4 0.21 0 Biomarker CTD_human 387578 AITD1 Autoimmune thyroid disease, susceptibility to, 1 umls:C0920350 Thyroiditis, Autoimmune 0.21 0 Biomarker CTD_human 387579 AITD2 Autoimmune thyroid disease, susceptibility to, 2 umls:C0920350 Thyroiditis, Autoimmune 0.21 0 Biomarker CTD_human 387581 AITD4 Autoimmune thyroid disease, susceptibility to, 4 umls:C0920350 Thyroiditis, Autoimmune 0.21 0 Biomarker CTD_human 84962 AJUBA ajuba LIM protein umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 203 AK1 adenylate kinase 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 204 AK2 adenylate kinase 2 umls:C0085110 Severe Combined Immunodeficiency 0.21 2 Biomarker CTD_human 205 AK4 adenylate kinase 4 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 26289 AK5 adenylate kinase 5 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 8165 AKAP1 A kinase (PRKA) anchor protein 1 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 11216 AKAP10 A kinase (PRKA) anchor protein 10 umls:C0264886 Cardiac Conduction Defect 0.21 0 Biomarker CTD_human 9590 AKAP12 A kinase (PRKA) anchor protein 12 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 11214 AKAP13 A kinase (PRKA) anchor protein 13 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 11214 AKAP13 A kinase (PRKA) anchor protein 13 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 11217 AKAP2 A kinase (PRKA) anchor protein 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 9495 AKAP5 A kinase (PRKA) anchor protein 5 umls:C0018800 Cardiomegaly 0.21 1 Therapeutic CTD_human 9495 AKAP5 A kinase (PRKA) anchor protein 5 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 9495 AKAP5 A kinase (PRKA) anchor protein 5 umls:C0026613 Motor Skills Disorders 0.21 1 Biomarker CTD_human 9465 AKAP7 A kinase (PRKA) anchor protein 7 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 10142 AKAP9 A kinase (PRKA) anchor protein 9 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 10142 AKAP9 A kinase (PRKA) anchor protein 9 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 79647 AKIRIN1 akirin 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10327 AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase) umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 231 AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 57016 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 57016 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 57016 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) umls:C0027651 Neoplasms 0.21 1 Therapeutic CTD_human 1645 AKR1C1 aldo-keto reductase family 1, member C1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 1645 AKR1C1 aldo-keto reductase family 1, member C1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 1645 AKR1C1 aldo-keto reductase family 1, member C1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 1645 AKR1C1 aldo-keto reductase family 1, member C1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1646 AKR1C2 aldo-keto reductase family 1, member C2 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 1646 AKR1C2 aldo-keto reductase family 1, member C2 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 1646 AKR1C2 aldo-keto reductase family 1, member C2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 1646 AKR1C2 aldo-keto reductase family 1, member C2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 8644 AKR1C3 aldo-keto reductase family 1, member C3 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 8644 AKR1C3 aldo-keto reductase family 1, member C3 umls:C0033578 Prostatic Neoplasms 0.21 2 Biomarker CTD_human 8644 AKR1C3 aldo-keto reductase family 1, member C3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6718 AKR1D1 aldo-keto reductase family 1, member D1 umls:C0018995 Hemochromatosis 0.21 1 Biomarker CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0032580 Adenomatous Polyposis Coli 0.21 1 Biomarker CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0428791 Aortic Valve, Calcification of 0.21 1 Biomarker CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0014544 Epilepsy 0.21 1 Therapeutic CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0023487 Leukemia, Promyelocytic, Acute 0.21 1 Biomarker CTD_human 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C0030193 Pain 0.21 1 Biomarker CTD_human 84335 AKT1S1 AKT1 substrate 1 (proline-rich) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 84335 AKT1S1 AKT1 substrate 1 (proline-rich) umls:C0037929 Spinal Cord Injuries 0.21 1 Therapeutic CTD_human 208 AKT2 v-akt murine thymoma viral oncogene homolog 2 umls:C0271694 Lipodystrophy, Familial Partial 0.21 1 Biomarker CTD_human 208 AKT2 v-akt murine thymoma viral oncogene homolog 2 umls:C2931822 Nasopharyngeal carcinoma 0.21 1 Biomarker CTD_human 10000 AKT3 v-akt murine thymoma viral oncogene homolog 3 umls:C1955869 Malformations of Cortical Development 0.21 1 Biomarker CTD_human 10000 AKT3 v-akt murine thymoma viral oncogene homolog 3 umls:C1863924 Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 0.21 1 Biomarker CTD_human 210 ALAD aminolevulinate dehydratase umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 210 ALAD aminolevulinate dehydratase umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 210 ALAD aminolevulinate dehydratase umls:C0751859 Lead Poisoning, Nervous System 0.21 1 Biomarker CTD_human 212 ALAS2 5'-aminolevulinate synthase 2 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C2609414 Acute Kidney Injury 0.21 3 Biomarker, Therapeutic CTD_human 213 ALB albumin umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0002994 Angioedema 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0003460 Anuria 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0270611 Brain Injuries 0.21 2 Biomarker CTD_human 213 ALB albumin umls:C0007786 Brain Ischemia 0.21 1 Therapeutic CTD_human 213 ALB albumin umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0011875 Diabetic Angiopathies 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0012644 Disease Models, Animal 0.21 2 Biomarker CTD_human 213 ALB albumin umls:C0860207 Drug-Induced Liver Injury 0.21 2 Biomarker CTD_human 213 ALB albumin umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0017662 Glomerulonephritis, Membranoproliferative 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0019061 Hemolytic-Uremic Syndrome 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0019699 HIV Seropositivity 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0020522 Hypersensitivity, Delayed 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 213 ALB albumin umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0023893 Liver Cirrhosis, Experimental 0.21 2 Biomarker CTD_human 213 ALB albumin umls:C0025290 Meningitis, Aseptic 0.21 3 Biomarker CTD_human 213 ALB albumin umls:C0026848 Muscular Diseases 0.21 1 Therapeutic CTD_human 213 ALB albumin umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0027697 Nephritis 0.21 6 Biomarker CTD_human 213 ALB albumin umls:C0027707 Nephritis, Interstitial 0.21 4 Biomarker CTD_human 213 ALB albumin umls:C0028797 Occupational Diseases 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 213 ALB albumin umls:C0030286 Pancreatic Diseases 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0030305 Pancreatitis 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0032343 Poisoning 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0033687 Proteinuria 0.21 9 Biomarker CTD_human 213 ALB albumin umls:C0035222 Respiratory Distress Syndrome, Adult 0.21 1 Therapeutic CTD_human 213 ALB albumin umls:C0035242 Respiratory Tract Diseases 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0035457 Rhinitis, Allergic, Perennial 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0036830 Serum Sickness 0.21 2 Biomarker CTD_human 213 ALB albumin umls:C0038325 Stevens-Johnson Syndrome 0.21 1 Therapeutic CTD_human 213 ALB albumin umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0040034 Thrombocytopenia 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0042109 Urticaria 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C0042164 Uveitis 0.21 1 Biomarker CTD_human 213 ALB albumin umls:C1860228 ZINC, ELEVATED PLASMA 0.21 0 Biomarker CTD_human 214 ALCAM activated leukocyte cell adhesion molecule umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 214 ALCAM activated leukocyte cell adhesion molecule umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 126133 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 umls:C0018099 Gout 0.21 1 Biomarker CTD_human 126133 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 umls:C0268117 Gout, HPRT-Related 0.21 1 Biomarker CTD_human 216 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 216 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 umls:C0242422 Parkinsonian Disorders 0.21 1 Biomarker CTD_human 216 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8854 ALDH1A2 aldehyde dehydrogenase 1 family, member A2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 8854 ALDH1A2 aldehyde dehydrogenase 1 family, member A2 umls:C0242422 Parkinsonian Disorders 0.21 1 Biomarker CTD_human 220 ALDH1A3 aldehyde dehydrogenase 1 family, member A3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 219 ALDH1B1 aldehyde dehydrogenase 1 family, member B1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 10840 ALDH1L1 aldehyde dehydrogenase 1 family, member L1 umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 10840 ALDH1L1 aldehyde dehydrogenase 1 family, member L1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 10840 ALDH1L1 aldehyde dehydrogenase 1 family, member L1 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C2674838 ALCOHOL SENSITIVITY, ACUTE 0.21 1 Biomarker CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0028796 Dermatitis, Occupational 0.21 1 Biomarker CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0342257 Diabetes Complications 0.21 1 Therapeutic CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0314657 Genetic Predisposition to Disease 0.21 2 Biomarker CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0018805 Heart Injuries 0.21 1 Therapeutic CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0042373 Vascular Diseases 0.21 1 Biomarker CTD_human 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C0242973 Ventricular Dysfunction 0.21 1 Therapeutic CTD_human 8659 ALDH4A1 aldehyde dehydrogenase 4 family, member A1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 7915 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 umls:C0006112 Brain Diseases, Metabolic 0.21 1 Biomarker CTD_human 7915 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 umls:C0393593 Dystonic Disorders 0.21 1 Biomarker CTD_human 7915 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 4329 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 4329 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 4329 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 501 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 umls:C0005940 Bone Diseases 0.21 1 Biomarker CTD_human 501 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 umls:C0009363 Coloboma 0.21 1 Biomarker CTD_human 501 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 501 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 226 ALDOA aldolase A, fructose-bisphosphate umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 226 ALDOA aldolase A, fructose-bisphosphate umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 226 ALDOA aldolase A, fructose-bisphosphate umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 226 ALDOA aldolase A, fructose-bisphosphate umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 226 ALDOA aldolase A, fructose-bisphosphate umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 229 ALDOB aldolase B, fructose-bisphosphate umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 229 ALDOB aldolase B, fructose-bisphosphate umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 229 ALDOB aldolase B, fructose-bisphosphate umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 229 ALDOB aldolase B, fructose-bisphosphate umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 29929 ALG6 ALG6, alpha-1,3-glucosyltransferase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0018199 Granuloma, Plasma Cell 0.21 3 Biomarker CTD_human 238 ALK anaplastic lymphoma receptor tyrosine kinase umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 7840 ALMS1 Alstrom syndrome 1 umls:C0007193 Cardiomyopathy, Dilated 0.21 1 Biomarker CTD_human 239 ALOX12 arachidonate 12-lipoxygenase umls:C0006435 Burns, Chemical 0.21 1 Biomarker CTD_human 239 ALOX12 arachidonate 12-lipoxygenase umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 239 ALOX12 arachidonate 12-lipoxygenase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 239 ALOX12 arachidonate 12-lipoxygenase umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0009319 Colitis 0.21 1 Biomarker CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0376618 Endotoxemia 0.21 1 Biomarker CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0016659 Fractures, Closed 0.21 1 Biomarker CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0026766 Multiple Organ Failure 0.21 1 Biomarker CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 240 ALOX5 arachidonate 5-lipoxygenase umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 241 ALOX5AP arachidonate 5-lipoxygenase-activating protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 241 ALOX5AP arachidonate 5-lipoxygenase-activating protein umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 241 ALOX5AP arachidonate 5-lipoxygenase-activating protein umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 241 ALOX5AP arachidonate 5-lipoxygenase-activating protein umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 59344 ALOXE3 arachidonate lipoxygenase 3 umls:C1855792 Ichthyosiform erythroderma, Brocq congenital, nonbullous form 0.21 0 Biomarker CTD_human 59344 ALOXE3 arachidonate lipoxygenase 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 249 ALPL alkaline phosphatase, liver/bone/kidney umls:C0002382 Alveolar Bone Loss 0.21 1 Biomarker CTD_human 249 ALPL alkaline phosphatase, liver/bone/kidney umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 251 ALPPL2 alkaline phosphatase, placental-like 2 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 259173 ALS2CL ALS2 C-terminal like umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 253 ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) umls:C1847735 Amyotrophic Lateral Sclerosis 3 0.21 0 Biomarker CTD_human 255 ALS5 amyotrophic lateral sclerosis 5 umls:C1865864 Amyotrophic Lateral Sclerosis 5 0.21 0 Biomarker CTD_human 406238 ALS7 amyotrophic lateral sclerosis 7 umls:C1842674 Amyotrophic Lateral Sclerosis 7 0.21 0 Biomarker CTD_human 8092 ALX1 ALX homeobox 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 60529 ALX4 ALX homeobox 4 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 60529 ALX4 ALX homeobox 4 umls:C0152427 Polydactyly 0.21 1 Biomarker CTD_human 10189 ALYREF Aly/REF export factor umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 23600 AMACR alpha-methylacyl-CoA racemase umls:C0027888 Hereditary Sensory and Motor Neuropathy 0.21 1 Biomarker CTD_human 23600 AMACR alpha-methylacyl-CoA racemase umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 23600 AMACR alpha-methylacyl-CoA racemase umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 259 AMBP alpha-1-microglobulin/bikunin precursor umls:C2609414 Acute Kidney Injury 0.21 1 Therapeutic CTD_human 259 AMBP alpha-1-microglobulin/bikunin precursor umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Therapeutic CTD_human 259 AMBP alpha-1-microglobulin/bikunin precursor umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 259 AMBP alpha-1-microglobulin/bikunin precursor umls:C0027626 Neoplasm Invasiveness 0.21 1 Therapeutic CTD_human 261 AMCN arthrogryposis multiplex congenita, neurogenic umls:C1859721 Arthrogryposis multiplex congenita neurogenic type 0.21 0 Biomarker CTD_human 619510 AMCX5 arthrogryposis, X-linked, type 5 umls:C1846273 ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED 0.21 0 Biomarker CTD_human 266 AMELY amelogenin, Y-linked umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 267 AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase umls:C0002395 Alzheimer Disease 0.21 1 Biomarker CTD_human 267 AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 267 AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 268 AMH anti-Mullerian hormone umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 269 AMHR2 anti-Mullerian hormone receptor, type II umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 9163 AMLCR2 acute myeloid leukemia chromosome region 2 umls:C0023467 Leukemia, Myeloid, Acute 0.21 0 Biomarker CTD_human 100499260 AMMEC Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis umls:C1846242 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 0.21 0 Biomarker CTD_human 9949 AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 umls:C1846242 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 0.21 0 Biomarker CTD_human 81693 AMN amnion associated transmembrane protein umls:C2609414 Acute Kidney Injury 0.21 1 Therapeutic CTD_human 81693 AMN amnion associated transmembrane protein umls:C0013604 Edema 0.21 1 Therapeutic CTD_human 81693 AMN amnion associated transmembrane protein umls:C0015379 Extravasation of Diagnostic and Therapeutic Materials 0.21 1 Therapeutic CTD_human 81693 AMN amnion associated transmembrane protein umls:C0600467 Neurogenic Inflammation 0.21 2 Therapeutic CTD_human 270 AMPD1 adenosine monophosphate deaminase 1 umls:C2931781 Adenosine monophosphate deaminase deficiency 0.21 3 Biomarker CTD_human 270 AMPD1 adenosine monophosphate deaminase 1 umls:C0026846 Muscular Atrophy 0.21 1 Biomarker CTD_human 8066 ANC Anal canal carcinoma umls:C0563211 Anal Canal Carcinoma 0.21 0 Biomarker CTD_human 282 ANCR Angelman syndrome chromosome region umls:C0162635 Angelman Syndrome 0.21 0 Biomarker CTD_human 283 ANG angiogenin, ribonuclease, RNase A family, 5 umls:C0001349 Acute-Phase Reaction 0.21 1 Biomarker CTD_human 283 ANG angiogenin, ribonuclease, RNase A family, 5 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 0 Biomarker CTD_human 283 ANG angiogenin, ribonuclease, RNase A family, 5 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 284 ANGPT1 angiopoietin 1 umls:C0020564 Hypertrophy 0.21 1 Therapeutic CTD_human 284 ANGPT1 angiopoietin 1 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 285 ANGPT2 angiopoietin 2 umls:C0018923 Hemangiosarcoma 0.21 1 Biomarker CTD_human 27329 ANGPTL3 angiopoietin-like 3 umls:C1857970 Hypobetalipoproteinemia, Familial, 2 0.21 0 Biomarker CTD_human 51129 ANGPTL4 angiopoietin-like 4 umls:C0024232 Lymphatic Metastasis 0.21 1 Therapeutic CTD_human 51129 ANGPTL4 angiopoietin-like 4 umls:C0027626 Neoplasm Invasiveness 0.21 1 Therapeutic CTD_human 51129 ANGPTL4 angiopoietin-like 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 116833 ANIB1 aneurysm, intracranial berry 1 umls:C1862932 Aneurysm, Intracranial Berry, 1 0.21 0 Biomarker CTD_human 100271689 ANIB10 Aneurysm, intracranial berry, 10 umls:C2675484 Aneurysm, Intracranial Berry, 10 0.21 0 Biomarker CTD_human 449013 ANIB2 aneurysm, intracranial berry 2 umls:C1837894 Aneurysm, intracranial berry, 2 0.21 0 Biomarker CTD_human 497657 ANIB3 aneurysm, intracranial berry 3 umls:C1836757 Aneurysm, Intracranial Berry, 3 0.21 0 Biomarker CTD_human 724058 ANIB4 aneurysm, intracranial berry 4 umls:C1857749 Aneurysm, Intracranial Berry, 4 0.21 0 Biomarker CTD_human 100188858 ANIB6 Aneurysm, intracranial berry, 6 umls:C2678469 Aneurysm, Intracranial Berry, 6 0.21 0 Biomarker CTD_human 100188885 ANIB7 Aneurysm, intracranial berry, 7 umls:C2677337 Aneurysm, Intracranial Berry, 7 0.21 0 Biomarker CTD_human 100188886 ANIB8 Aneurysm, intracranial berry, 8 umls:C2677336 Aneurysm, Intracranial Berry, 8 0.21 0 Biomarker CTD_human 100271688 ANIB9 Aneurysm, intracranial berry, 9 umls:C2675485 Aneurysm, Intracranial Berry, 9 0.21 0 Biomarker CTD_human 550625 ANIC Anosmia, isolated congenital umls:C0393778 Congenital anosmia 0.21 0 Biomarker CTD_human 286 ANK1 ankyrin 1, erythrocytic umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 56172 ANKH ANKH inorganic pyrophosphate transport regulator umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 56172 ANKH ANKH inorganic pyrophosphate transport regulator umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 56172 ANKH ANKH inorganic pyrophosphate transport regulator umls:C0040427 Tooth Abnormalities 0.21 1 Biomarker CTD_human 27063 ANKRD1 ankyrin repeat domain 1 (cardiac muscle) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 55608 ANKRD10 ankyrin repeat domain 10 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 29123 ANKRD11 ankyrin repeat domain 11 umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 29123 ANKRD11 ankyrin repeat domain 11 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 253650 ANKRD18A ankyrin repeat domain 18A umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 79722 ANKRD55 ankyrin repeat domain 55 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 203286 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 umls:C0243050 Cardiovascular Abnormalities 0.21 1 Biomarker CTD_human 203286 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 54443 ANLN anillin, actin binding protein umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 80871 ANMA Anisomastia umls:C1854013 Anisomastia 0.21 0 Biomarker CTD_human 121601 ANO4 anoctamin 4 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 121601 ANO4 anoctamin 4 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 171514 ANON1 Anorexia nervosa, susceptibility to, 1 umls:C0003125 Anorexia Nervosa 0.21 0 Biomarker CTD_human 289 ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) umls:C1844948 Microphthalmia, Syndromic 4 0.21 0 Biomarker CTD_human 84168 ANTXR1 anthrax toxin receptor 1 umls:C1865871 Hemangioma, capillary infantile 0.21 0 Biomarker CTD_human 118429 ANTXR2 anthrax toxin receptor 2 umls:C0009917 Contracture 0.21 2 Biomarker CTD_human 118429 ANTXR2 anthrax toxin receptor 2 umls:C0016045 Fibroma 0.21 2 Biomarker CTD_human 118429 ANTXR2 anthrax toxin receptor 2 umls:C0017567 Gingival Hypertrophy 0.21 2 Biomarker CTD_human 118429 ANTXR2 anthrax toxin receptor 2 umls:C0221204 Osteolysis 0.21 1 Biomarker CTD_human 118429 ANTXR2 anthrax toxin receptor 2 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 301 ANXA1 annexin A1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 301 ANXA1 annexin A1 umls:C0022658 Kidney Diseases 0.21 1 Therapeutic CTD_human 301 ANXA1 annexin A1 umls:C0024667 Mammary Neoplasms, Animal 0.21 3 Biomarker CTD_human 301 ANXA1 annexin A1 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 301 ANXA1 annexin A1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 301 ANXA1 annexin A1 umls:C0038354 Stomach Diseases 0.21 1 Therapeutic CTD_human 302 ANXA2 annexin A2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 302 ANXA2 annexin A2 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 302 ANXA2 annexin A2 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 302 ANXA2 annexin A2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 306 ANXA3 annexin A3 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 306 ANXA3 annexin A3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 307 ANXA4 annexin A4 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 307 ANXA4 annexin A4 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 307 ANXA4 annexin A4 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 307 ANXA4 annexin A4 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 307 ANXA4 annexin A4 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 307 ANXA4 annexin A4 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 307 ANXA4 annexin A4 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 307 ANXA4 annexin A4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 308 ANXA5 annexin A5 umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 308 ANXA5 annexin A5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 308 ANXA5 annexin A5 umls:C0019202 Hepatolenticular Degeneration 0.21 1 Biomarker CTD_human 308 ANXA5 annexin A5 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 308 ANXA5 annexin A5 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 308 ANXA5 annexin A5 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 309 ANXA6 annexin A6 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 310 ANXA7 annexin A7 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 313 AOAH acyloxyacyl hydrolase (neutrophil) umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 313 AOAH acyloxyacyl hydrolase (neutrophil) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 26 AOC1 amine oxidase, copper containing 1 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 26 AOC1 amine oxidase, copper containing 1 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 8639 AOC3 amine oxidase, copper containing 3 umls:C0011881 Diabetic Nephropathies 0.21 1 Biomarker CTD_human 8639 AOC3 amine oxidase, copper containing 3 umls:C0030524 Paratuberculosis 0.21 1 Biomarker CTD_human 93956 AOCH Acromegaloid features, overgrowth, cleft palate, and hernia umls:C1853757 Acromegaloid features, overgrowth, cleft palate, and hernia 0.21 0 Biomarker CTD_human 65076 AOMS1 Abdominal obesity-metabolic syndrome QTL1 umls:C2930930 Abdominal obesity metabolic syndrome 0.21 0 Biomarker CTD_human 316 AOX1 aldehyde oxidase 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 55435 AP1AR adaptor-related protein complex 1 associated regulatory protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1174 AP1S1 adaptor-related protein complex 1, sigma 1 subunit umls:C0023794 Lipidoses 0.21 1 Biomarker CTD_human 23431 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 9179 AP4M1 adaptor-related protein complex 4, mu 1 subunit umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 317 APAF1 apoptotic peptidase activating factor 1 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 317 APAF1 apoptotic peptidase activating factor 1 umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 317 APAF1 apoptotic peptidase activating factor 1 umls:C0035305 Retinal Detachment 0.21 1 Biomarker CTD_human 317 APAF1 apoptotic peptidase activating factor 1 umls:C0037268 Skin Abnormalities 0.21 1 Biomarker CTD_human 323 APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 324 APC adenomatous polyposis coli umls:C1879526 Aberrant Crypt Foci 0.21 1 Biomarker CTD_human 324 APC adenomatous polyposis coli umls:C0009405 Colorectal Neoplasms, Hereditary Nonpolyposis 0.21 1 Biomarker CTD_human 324 APC adenomatous polyposis coli umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 324 APC adenomatous polyposis coli umls:C0020473 Hyperlipidemias 0.21 1 Biomarker CTD_human 324 APC adenomatous polyposis coli umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 324 APC adenomatous polyposis coli umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 10297 APC2 adenomatosis polyposis coli 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 10297 APC2 adenomatosis polyposis coli 2 umls:C0009404 Colorectal Neoplasms 0.21 3 Biomarker CTD_human 10297 APC2 adenomatosis polyposis coli 2 umls:C0021390 Inflammatory Bowel Diseases 0.21 1 Biomarker CTD_human 325 APCS amyloid P component, serum umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 325 APCS amyloid P component, serum umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 328 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 328 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 328 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 328 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 umls:C1449861 Micronuclei, Chromosome-Defective 0.21 1 Biomarker CTD_human 328 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 334 APLP2 amyloid beta (A4) precursor-like protein 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 334 APLP2 amyloid beta (A4) precursor-like protein 2 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 780898 APMR1 Alopecia-mental retardation syndrome umls:C1859878 Alopecia-Mental Retardation Syndrome 1 0.21 0 Biomarker CTD_human 100049544 APMR2 Alopecia with mental retardation syndrome 2 umls:C1835852 Alopecia-Mental Retardation Syndrome 2 0.21 0 Biomarker CTD_human 335 APOA1 apolipoprotein A-I umls:C0242488 Acute Lung Injury 0.21 1 Therapeutic CTD_human 335 APOA1 apolipoprotein A-I umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 335 APOA1 apolipoprotein A-I umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 335 APOA1 apolipoprotein A-I umls:C1848533 Ataxia with vitamin E deficiency 0.21 1 Biomarker CTD_human 335 APOA1 apolipoprotein A-I umls:C0004943 Behcet Syndrome 0.21 1 Biomarker CTD_human 335 APOA1 apolipoprotein A-I umls:C0011065 Death 0.21 1 Therapeutic CTD_human 335 APOA1 apolipoprotein A-I umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 335 APOA1 apolipoprotein A-I umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 335 APOA1 apolipoprotein A-I umls:C0013604 Edema 0.21 1 Therapeutic CTD_human 335 APOA1 apolipoprotein A-I umls:C0017665 Glomerulonephritis, Membranous 0.21 1 Biomarker CTD_human 336 APOA2 apolipoprotein A-II umls:C0745103 HYPERCHOLESTEROLEMIA, FAMILIAL 0.21 0 Biomarker CTD_human 337 APOA4 apolipoprotein A-IV umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 338 APOB apolipoprotein B umls:C1848533 Ataxia with vitamin E deficiency 0.21 1 Biomarker CTD_human 338 APOB apolipoprotein B umls:C0004943 Behcet Syndrome 0.21 1 Biomarker CTD_human 200315 APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 9582 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 9582 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9582 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 9582 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 9582 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 341 APOC1 apolipoprotein C-I umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 344 APOC2 apolipoprotein C-II umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 344 APOC2 apolipoprotein C-II umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 345 APOC3 apolipoprotein C-III umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 345 APOC3 apolipoprotein C-III umls:C0020476 Hyperlipoproteinemias 0.21 1 Biomarker CTD_human 345 APOC3 apolipoprotein C-III umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 347 APOD apolipoprotein D umls:C0086439 Hypokinesia 0.21 1 Biomarker CTD_human 347 APOD apolipoprotein D umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 347 APOD apolipoprotein D umls:C0524851 Neurodegenerative Diseases 0.21 1 Therapeutic CTD_human 348 APOE apolipoprotein E umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 348 APOE apolipoprotein E umls:C0013990 Emphysema 0.21 1 Biomarker CTD_human 348 APOE apolipoprotein E umls:C1384666 Hearing Loss 0.21 1 Biomarker CTD_human 348 APOE apolipoprotein E umls:C0025427 Mercury Poisoning 0.21 1 Biomarker CTD_human 348 APOE apolipoprotein E umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 348 APOE apolipoprotein E umls:C2936350 Plaque, Atherosclerotic 0.21 3 Biomarker CTD_human 348 APOE apolipoprotein E umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 348 APOE apolipoprotein E umls:C0038002 Splenomegaly 0.21 1 Biomarker CTD_human 350 APOH apolipoprotein H (beta-2-glycoprotein I) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 23780 APOL2 apolipoprotein L, 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 23780 APOL2 apolipoprotein L, 2 umls:C0024809 Marijuana Abuse 0.21 1 Biomarker CTD_human 23780 APOL2 apolipoprotein L, 2 umls:C0031391 Phencyclidine Abuse 0.21 1 Biomarker CTD_human 80830 APOL6 apolipoprotein L, 6 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0231341 Aging, Premature 0.21 1 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C2931672 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type 0.21 2 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0009241 Cognition Disorders 0.21 3 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0012644 Disease Models, Animal 0.21 2 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0023186 Learning Disorders 0.21 4 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0025261 Memory Disorders 0.21 7 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0027746 Nerve Degeneration 0.21 9 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0600467 Neurogenic Inflammation 0.21 1 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0522224 Paralysis 0.21 4 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0037928 Spinal Cord Diseases 0.21 1 Biomarker CTD_human 351 APP amyloid beta (A4) precursor protein umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 55198 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55198 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 55198 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 54840 APTX aprataxin umls:C3551954 COENZYME Q10 DEFICIENCY, PRIMARY, 1 0.21 0 Biomarker CTD_human 358 AQP1 aquaporin 1 (Colton blood group) umls:C0013608 Edema, Cardiac 0.21 1 Biomarker CTD_human 358 AQP1 aquaporin 1 (Colton blood group) umls:C0020550 Hyperthyroidism 0.21 1 Biomarker CTD_human 358 AQP1 aquaporin 1 (Colton blood group) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 358 AQP1 aquaporin 1 (Colton blood group) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 358 AQP1 aquaporin 1 (Colton blood group) umls:C0030193 Pain 0.21 1 Biomarker CTD_human 358 AQP1 aquaporin 1 (Colton blood group) umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 358 AQP1 aquaporin 1 (Colton blood group) umls:C0036983 Shock, Septic 0.21 1 Biomarker CTD_human 359 AQP2 aquaporin 2 (collecting duct) umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 360 AQP3 aquaporin 3 (Gill blood group) umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 360 AQP3 aquaporin 3 (Gill blood group) umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 360 AQP3 aquaporin 3 (Gill blood group) umls:C0040411 Tongue Neoplasms 0.21 1 Biomarker CTD_human 360 AQP3 aquaporin 3 (Gill blood group) umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 362 AQP5 aquaporin 5 umls:C0019284 Hernia, Diaphragmatic 0.21 2 Biomarker CTD_human 364 AQP7 aquaporin 7 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 366 AQP9 aquaporin 9 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 366 AQP9 aquaporin 9 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Therapeutic CTD_human 367 AR androgen receptor umls:C0242788 Breast Neoplasms, Male 0.21 2 Biomarker CTD_human 367 AR androgen receptor umls:C0085207 Diabetes, Gestational 0.21 1 Biomarker CTD_human 369 ARAF A-Raf proto-oncogene, serine/threonine kinase umls:C1458155 Breast Neoplasms 0.21 1 Therapeutic CTD_human 64411 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 23237 ARC activity-regulated cytoskeleton-associated protein umls:C0002395 Alzheimer Disease 0.21 1 Biomarker CTD_human 23237 ARC activity-regulated cytoskeleton-associated protein umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 23237 ARC activity-regulated cytoskeleton-associated protein umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 372 ARCN1 archain 1 umls:C0004134 Ataxia 0.21 1 Biomarker CTD_human 100381211 ARCODS Ariculocondylar syndrome umls:C1865295 Auriculo-condylar syndrome 0.21 0 Biomarker CTD_human 374 AREG amphiregulin umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 374 AREG amphiregulin umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 374 AREG amphiregulin umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 374 AREG amphiregulin umls:C0162568 Protoporphyria, Erythropoietic 0.21 1 Biomarker CTD_human 374 AREG amphiregulin umls:C0038356 Stomach Neoplasms 0.21 3 Biomarker, Therapeutic CTD_human 55738 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 55738 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 84364 ARFGAP2 ADP-ribosylation factor GTPase activating protein 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 84364 ARFGAP2 ADP-ribosylation factor GTPase activating protein 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 10565 ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10564 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 383 ARG1 arginase 1 umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 383 ARG1 arginase 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 383 ARG1 arginase 1 umls:C0018500 Hair Diseases 0.21 1 Biomarker CTD_human 383 ARG1 arginase 1 umls:C0021053 Immune System Diseases 0.21 1 Biomarker CTD_human 383 ARG1 arginase 1 umls:C0023281 Leishmaniasis 0.21 1 Biomarker CTD_human 383 ARG1 arginase 1 umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 384 ARG2 arginase 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 384 ARG2 arginase 2 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 9824 ARHGAP11A Rho GTPase activating protein 11A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 58504 ARHGAP22 Rho GTPase activating protein 22 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 57636 ARHGAP23 Rho GTPase activating protein 23 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 79822 ARHGAP28 Rho GTPase activating protein 28 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 257106 ARHGAP30 Rho GTPase activating protein 30 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 393 ARHGAP4 Rho GTPase activating protein 4 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 396 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 396 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 396 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 397 ARHGDIB Rho GDP dissociation inhibitor (GDI) beta umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 23365 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 7984 ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 100233147 ARHI1 Age-related hearing impairment 1 umls:C2676230 Age-Related Hearing Impairment 1 0.21 0 Biomarker CTD_human 100302721 ARHI2 Age-related hearing impairment 2 umls:C2751814 Presbycusis 2 0.21 0 Biomarker CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C2239176 Carcinoma, Hepatocellular 0.21 3 Biomarker CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0345905 Intrahepatic cholangiocarcinoma 0.21 1 Biomarker CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C2931822 Nasopharyngeal carcinoma 0.21 1 Biomarker CTD_human 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C0038356 Stomach Neoplasms 0.21 3 Biomarker CTD_human 57492 ARID1B AT rich interactive domain 1B (SWI1-like) umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 51742 ARID4B AT rich interactive domain 4B (RBP1-like) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 84159 ARID5B AT rich interactive domain 5B (MRF1-like) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 115761 ARL11 ADP-ribosylation factor-like 11 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 120534 ARL14EP ADP-ribosylation factor-like 14 effector protein umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 402 ARL2 ADP-ribosylation factor-like 2 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 221079 ARL5B ADP-ribosylation factor-like 5B umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 23204 ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10550 ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10550 ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Therapeutic CTD_human 55156 ARMC1 armadillo repeat containing 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 405 ARNT aryl hydrocarbon receptor nuclear translocator umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 405 ARNT aryl hydrocarbon receptor nuclear translocator umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 405 ARNT aryl hydrocarbon receptor nuclear translocator umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 405 ARNT aryl hydrocarbon receptor nuclear translocator umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406 ARNTL aryl hydrocarbon receptor nuclear translocator-like umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 406 ARNTL aryl hydrocarbon receptor nuclear translocator-like umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 56938 ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 57561 ARRDC3 arrestin domain containing 3 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 9048 ARTN artemin umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 421 ARVCF armadillo repeat gene deleted in velocardiofacial syndrome umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 424 ARVD3 arrhythmogenic right ventricular dysplasia 3 umls:C1865882 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 0.21 0 Biomarker CTD_human 425 ARVD4 arrhythmogenic right ventricular dysplasia 4 umls:C1865881 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 0.21 0 Biomarker CTD_human 27038 ARVD6 arrhythmogenic right ventricular dysplasia 6 umls:C1858378 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 0.21 0 Biomarker CTD_human 57412 AS3MT arsenite methyltransferase umls:C0027660 Neoplasms, Glandular and Epithelial 0.21 1 Biomarker CTD_human 57412 AS3MT arsenite methyltransferase umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 427 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 umls:C0023794 Lipidoses 0.21 2 Biomarker CTD_human 56624 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 umls:C0023895 Liver Diseases 0.21 1 Therapeutic CTD_human 142685 ASB15 ankyrin repeat and SOCS box containing 15 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 10973 ASCC3 activating signal cointegrator 1 complex subunit 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10973 ASCC3 activating signal cointegrator 1 complex subunit 3 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 429 ASCL1 achaete-scute family bHLH transcription factor 1 umls:C0242488 Acute Lung Injury 0.21 1 Therapeutic CTD_human 429 ASCL1 achaete-scute family bHLH transcription factor 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 429 ASCL1 achaete-scute family bHLH transcription factor 1 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 430 ASCL2 achaete-scute family bHLH transcription factor 2 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 431 ASD1 atrial septal defect 1 umls:C1862389 Atrial Septal Defect 1 0.21 0 Biomarker CTD_human 100187749 ASDP anal sphincter dysplasia umls:C1862936 Anal sphincter dysplasia 0.21 0 Biomarker CTD_human 25842 ASF1A anti-silencing function 1A histone chaperone umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 41 ASIC1 acid sensing (proton gated) ion channel 1 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 41 ASIC1 acid sensing (proton gated) ion channel 1 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 41 ASIC1 acid sensing (proton gated) ion channel 1 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 40 ASIC2 acid sensing (proton gated) ion channel 2 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 9311 ASIC3 acid sensing (proton gated) ion channel 3 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 8623 ASMTL acetylserotonin O-methyltransferase-like umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 440 ASNS asparagine synthetase (glutamine-hydrolyzing) umls:C0023794 Lipidoses 0.21 1 Biomarker CTD_human 374569 ASPG asparaginase umls:C0002792 Anaphylaxis 0.21 1 Biomarker CTD_human 374569 ASPG asparaginase umls:C0002871 Anemia 0.21 1 Biomarker CTD_human 374569 ASPG asparaginase umls:C0701818 Choledocholithiasis 0.21 1 Biomarker CTD_human 374569 ASPG asparaginase umls:C0008350 Cholelithiasis 0.21 1 Biomarker CTD_human 374569 ASPG asparaginase umls:C0015967 Fever 0.21 1 Biomarker CTD_human 374569 ASPG asparaginase umls:C0018965 Hematuria 0.21 1 Biomarker CTD_human 374569 ASPG asparaginase umls:C0023530 Leukopenia 0.21 1 Biomarker CTD_human 374569 ASPG asparaginase umls:C0040034 Thrombocytopenia 0.21 1 Biomarker CTD_human 374569 ASPG asparaginase umls:C0042963 Vomiting 0.21 1 Biomarker CTD_human 431710 ASPG1 Asperger syndrome, susceptibility to, 1 umls:C0236792 Asperger Syndrome 0.21 0 Biomarker CTD_human 431711 ASPG2 Asperger syndrome, susceptibility to, 2 umls:C0236792 Asperger Syndrome 0.21 0 Biomarker CTD_human 449015 ASPG3 Asperger syndrome, susceptibility to, 3 umls:C0236792 Asperger Syndrome 0.21 0 Biomarker CTD_human 100188800 ASPG4 Asperger syndrome, susceptibility to, 4 umls:C0236792 Asperger Syndrome 0.21 0 Biomarker CTD_human 259266 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 259266 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 259266 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 259266 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 54829 ASPN asporin umls:C0158252 Intervertebral disc disease 0.21 0 Biomarker CTD_human 54829 ASPN asporin umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 80150 ASRGL1 asparaginase like 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 100188801 ASRT3 Asthma-related traits, susceptibility to, 3 umls:C1864959 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3 0.21 0 Biomarker CTD_human 100188823 ASRT4 Asthma-related traits, susceptibility to, 4 umls:C1970474 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 0.21 0 Biomarker CTD_human 100188840 ASRT6 Asthma-related traits, susceptibility to, 6 umls:C1969640 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 0.21 0 Biomarker CTD_human 100415896 ASRT8 Asthma-related traits, susceptibility to, 8 umls:C2750782 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8 0.21 0 Biomarker CTD_human 445 ASS1 argininosuccinate synthase 1 umls:C0011875 Diabetic Angiopathies 0.21 1 Therapeutic CTD_human 460 ASTN1 astrotactin 1 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 23245 ASTN2 astrotactin 2 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 23245 ASTN2 astrotactin 2 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 23245 ASTN2 astrotactin 2 umls:C0338480 Migraine without Aura 0.21 1 Biomarker CTD_human 55726 ASUN asunder spermatogenesis regulator umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 55252 ASXL2 additional sex combs like transcriptional regulator 2 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 136991 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 29028 ATAD2 ATPase family, AAA domain containing 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55210 ATAD3A ATPase family, AAA domain containing 3A umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 466 ATF1 activating transcription factor 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1386 ATF2 activating transcription factor 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 467 ATF3 activating transcription factor 3 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 467 ATF3 activating transcription factor 3 umls:C0878544 Cardiomyopathies 0.21 1 Therapeutic CTD_human 467 ATF3 activating transcription factor 3 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 467 ATF3 activating transcription factor 3 umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 467 ATF3 activating transcription factor 3 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 467 ATF3 activating transcription factor 3 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 467 ATF3 activating transcription factor 3 umls:C0027765 Nervous System Diseases 0.21 2 Biomarker CTD_human 467 ATF3 activating transcription factor 3 umls:C0919267 Ovarian Neoplasms 0.21 1 Therapeutic CTD_human 467 ATF3 activating transcription factor 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 468 ATF4 activating transcription factor 4 umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 468 ATF4 activating transcription factor 4 umls:C1134719 Carcinoma, Ductal, Breast 0.21 1 Biomarker CTD_human 468 ATF4 activating transcription factor 4 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 55729 ATF7IP activating transcription factor 7 interacting protein umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 406216 ATFB1 Atrial fibrillation, familial 1 umls:C1843687 Atrial fibrillation, familial 1 0.21 0 Biomarker CTD_human 619478 ATFB2 familial atrial fibrillation 2 umls:C1837812 Atrial Fibrillation, Familial, 2 0.21 0 Biomarker CTD_human 100188842 ATFB5 Atrial fibrillation, familial, 5 umls:C1969099 Atrial Fibrillation, Familial, 5 0.21 0 Biomarker CTD_human 100306979 ATFB8 Atrial fibrillation, familial, 8 umls:C2751607 Atrial Fibrillation, Familial, 8 0.21 0 Biomarker CTD_human 9474 ATG5 autophagy related 5 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 9474 ATG5 autophagy related 5 umls:C0019209 Hepatomegaly 0.21 1 Biomarker CTD_human 9474 ATG5 autophagy related 5 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 10533 ATG7 autophagy related 7 umls:C0027540 Necrosis 0.21 1 Therapeutic CTD_human 470 ATHS atherosclerosis susceptibility (lipoprotein associated) umls:C0004153 Atherosclerosis 0.21 0 Biomarker CTD_human 471 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 472 ATM ATM serine/threonine kinase umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 472 ATM ATM serine/threonine kinase umls:C0086543 Cataract 0.21 1 Biomarker CTD_human 472 ATM ATM serine/threonine kinase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 472 ATM ATM serine/threonine kinase umls:C0033054 Prenatal Exposure Delayed Effects 0.21 1 Biomarker CTD_human 472 ATM ATM serine/threonine kinase umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 1822 ATN1 atrophin 1 umls:C0751778 Myoclonic Epilepsies, Progressive 0.21 0 Biomarker CTD_human 64069 ATOD1 Dermatitis, atopic umls:C1864155 Dermatitis, Atopic, 1 0.21 0 Biomarker CTD_human 117187 ATOD3 Dermatitis, atopic, 3 umls:C1864155 Dermatitis, Atopic, 1 0.21 0 Biomarker CTD_human 117187 ATOD3 Dermatitis, atopic, 3 umls:C1853964 Dermatitis, Atopic, 3 0.21 0 Biomarker CTD_human 117188 ATOD5 Dermatitis, atopic, 5 umls:C1864155 Dermatitis, Atopic, 1 0.21 0 Biomarker CTD_human 117188 ATOD5 Dermatitis, atopic, 5 umls:C1853900 Dermatitis, Atopic, 5 0.21 0 Biomarker CTD_human 114477 ATOD6 Dermatitis, atopic, 6 umls:C1864155 Dermatitis, Atopic, 1 0.21 0 Biomarker CTD_human 114477 ATOD6 Dermatitis, atopic, 6 umls:C1853899 Dermatitis, Atopic, 6 0.21 0 Biomarker CTD_human 100310755 ATOD7 Dermatitis, atopic, susceptibility to, 7 umls:C2751599 Dermatitis, Atopic, 7 0.21 0 Biomarker CTD_human 23250 ATP11A ATPase, class VI, type 11A umls:C1800706 Idiopathic Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 23400 ATP13A2 ATPase type 13A2 umls:C0677050 Manganese Poisoning 0.21 1 Biomarker CTD_human 23400 ATP13A2 ATPase type 13A2 umls:C0030569 Parkinson Disease, Secondary 0.21 1 Biomarker CTD_human 476 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide umls:C0001430 Adenoma 0.21 2 Biomarker CTD_human 476 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide umls:C0020428 Hyperaldosteronism 0.21 1 Biomarker CTD_human 476 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 476 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide umls:C0042594 Vestibular Diseases 0.21 1 Biomarker CTD_human 478 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 478 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 478 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide umls:C0242698 Ventricular Dysfunction, Left 0.21 1 Biomarker CTD_human 481 ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 481 ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 482 ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 487 ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0206146 Myocardial Stunning 0.21 1 Biomarker CTD_human 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C0242698 Ventricular Dysfunction, Left 0.21 1 Therapeutic CTD_human 489 ATP2A3 ATPase, Ca++ transporting, ubiquitous umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 490 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 umls:C0086543 Cataract 0.21 1 Biomarker CTD_human 490 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 umls:C1956346 Coronary Artery Disease 0.21 1 Biomarker CTD_human 490 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 491 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 umls:C1832394 Deafness, Autosomal Recessive 12 0.21 0 Biomarker CTD_human 492 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 umls:C0020428 Hyperaldosteronism 0.21 1 Biomarker CTD_human 498 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle umls:C0376618 Endotoxemia 0.21 1 Biomarker CTD_human 506 ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 506 ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 506 ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide umls:C1846707 Spinocerebellar Ataxia 17 0.21 1 Biomarker CTD_human 515 ATP5F1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10476 ATP5H ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 10476 ATP5H ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 522 ATP5J ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 4508 ATP6 ATP synthase F0 subunit 6 umls:C0011849 Diabetes Mellitus 0.21 1 Biomarker CTD_human 4508 ATP6 ATP synthase F0 subunit 6 umls:C0020564 Hypertrophy 0.21 1 Biomarker CTD_human 10159 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 10159 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 10159 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 245972 ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 526 ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 526 ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 538 ATP7A ATPase, Cu++ transporting, alpha polypeptide umls:C0003496 Aortic Rupture 0.21 1 Biomarker CTD_human 538 ATP7A ATPase, Cu++ transporting, alpha polypeptide umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 538 ATP7A ATPase, Cu++ transporting, alpha polypeptide umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 538 ATP7A ATPase, Cu++ transporting, alpha polypeptide umls:C2936380 Neointima 0.21 1 Biomarker CTD_human 538 ATP7A ATPase, Cu++ transporting, alpha polypeptide umls:C0178324 Vascular System Injuries 0.21 1 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C1168401 Carcinoma, squamous cell of head and neck 0.21 1 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0012644 Disease Models, Animal 0.21 4 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0242656 Disease Progression 0.21 3 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0242339 Dyslipidemias 0.21 1 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0022665 Kidney Neoplasms 0.21 1 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 540 ATP7B ATPase, Cu++ transporting, beta polypeptide umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 374868 ATP9B ATPase, class II, type 9B umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 64756 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 93974 ATPIF1 ATPase inhibitory factor 1 umls:C0007097 Carcinoma 0.21 2 Biomarker CTD_human 93974 ATPIF1 ATPase inhibitory factor 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 93974 ATPIF1 ATPase inhibitory factor 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 100499532 ATPLS antiphospholipid syndrome, familial umls:C2930802 Familial antiphospholipid syndrome 0.21 0 Biomarker CTD_human 545 ATR ATR serine/threonine kinase umls:C0042076 Urologic Neoplasms 0.21 1 Biomarker CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0030846 Penile Diseases 0.21 1 Biomarker CTD_human 546 ATRX alpha thalassemia/mental retardation syndrome X-linked umls:C0039978 Thoracic Diseases 0.21 1 Biomarker CTD_human 4287 ATXN3 ataxin 3 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 6314 ATXN7 ataxin 7 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 6314 ATXN7 ataxin 7 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6315 ATXN8OS ATXN8 opposite strand (non-protein coding) umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 751798 AUNX1 auditory neuropathy, X-linked recessive 1 umls:C1845095 Deafness, X-Linked 5 0.21 0 Biomarker CTD_human 6790 AURKA aurora kinase A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6790 AURKA aurora kinase A umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6790 AURKA aurora kinase A umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 9212 AURKB aurora kinase B umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9212 AURKB aurora kinase B umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 100188820 AUTS11 Autism, susceptibility to, 11 umls:C0004352 Autistic Disorder 0.21 0 Biomarker CTD_human 100188314 AUTS12 autism, susceptibility to, 12 umls:C0004352 Autistic Disorder 0.21 0 Biomarker CTD_human 100188317 AUTS13 autism, susceptibility to, 13 umls:C0004352 Autistic Disorder 0.21 0 Biomarker CTD_human 26053 AUTS2 autism susceptibility candidate 2 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 387577 AUTS3 Autism, susceptibility to, 3 umls:C0004352 Autistic Disorder 0.21 0 Biomarker CTD_human 554314 AUTS6 Autism, susceptibility to, 6 umls:C0004352 Autistic Disorder 0.21 0 Biomarker CTD_human 100188816 AUTS7 Autism, susceptibility to, 7 umls:C0004352 Autistic Disorder 0.21 0 Biomarker CTD_human 57099 AVEN apoptosis, caspase activation inhibitor umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 551 AVP arginine vasopressin umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0002622 Amnesia 0.21 1 Therapeutic CTD_human 551 AVP arginine vasopressin umls:C0002962 Angina Pectoris 0.21 2 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0003811 Arrhythmias, Cardiac 0.21 1 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0029944 Drug Overdose 0.21 1 Therapeutic CTD_human 551 AVP arginine vasopressin umls:C0013390 Dysmenorrhea 0.21 1 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0017181 Gastrointestinal Hemorrhage 0.21 1 Therapeutic CTD_human 551 AVP arginine vasopressin umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0021141 Inappropriate ADH Syndrome 0.21 2 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0022116 Ischemia 0.21 2 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0025261 Memory Disorders 0.21 1 Therapeutic CTD_human 551 AVP arginine vasopressin umls:C0030193 Pain 0.21 2 Therapeutic CTD_human 551 AVP arginine vasopressin umls:C0033975 Psychotic Disorders 0.21 1 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0036974 Shock 0.21 1 Therapeutic CTD_human 551 AVP arginine vasopressin umls:C0037019 Shy-Drager Syndrome 0.21 1 Biomarker CTD_human 551 AVP arginine vasopressin umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 552 AVPR1A arginine vasopressin receptor 1A umls:C0001627 Adrenal Hyperplasia, Congenital 0.21 1 Biomarker CTD_human 552 AVPR1A arginine vasopressin receptor 1A umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 554 AVPR2 arginine vasopressin receptor 2 umls:C0001627 Adrenal Hyperplasia, Congenital 0.21 1 Biomarker CTD_human 554 AVPR2 arginine vasopressin receptor 2 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 554 AVPR2 arginine vasopressin receptor 2 umls:C1138434 Genetic Diseases, X-Linked 0.21 1 Biomarker CTD_human 554 AVPR2 arginine vasopressin receptor 2 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 554 AVPR2 arginine vasopressin receptor 2 umls:C0028961 Oliguria 0.21 1 Biomarker CTD_human 7446 AVSD1 atrioventricular septal defect 1 umls:C1389016 Atrioventricular Canal Defect 0.21 0 Biomarker CTD_human 7446 AVSD1 atrioventricular septal defect 1 umls:C3275750 ATRIOVENTRICULAR SEPTAL DEFECT 3 0.21 0 Biomarker CTD_human 558 AXL AXL receptor tyrosine kinase umls:C0011881 Diabetic Nephropathies 0.21 1 Biomarker CTD_human 560 AZF1 azoospermia factor 1 umls:C1839071 Spermatogenic Failure, Nonobstructive, Y-Linked 0.21 0 Biomarker CTD_human 563 AZGP1 alpha-2-glycoprotein 1, zinc-binding umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 563 AZGP1 alpha-2-glycoprotein 1, zinc-binding umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 563 AZGP1 alpha-2-glycoprotein 1, zinc-binding umls:C0037199 Sinusitis 0.21 1 Biomarker CTD_human 51582 AZIN1 antizyme inhibitor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 338331 AZON Azoospremia, nonobstructive umls:C1847540 Azoospermia, Nonobstructive 0.21 0 Biomarker CTD_human 567 B2M beta-2-microglobulin umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 567 B2M beta-2-microglobulin umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 567 B2M beta-2-microglobulin umls:C0020455 Hypergammaglobulinemia 0.21 1 Therapeutic CTD_human 567 B2M beta-2-microglobulin umls:C0079774 Lymphoma, T-Cell, Peripheral 0.21 1 Biomarker CTD_human 27087 B3GAT1 beta-1,3-glucuronyltransferase 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 26229 B3GAT3 beta-1,3-glucuronyltransferase 3 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2683 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 umls:C2931009 Congenital disorder of glycosylation type 2D 0.21 0 Biomarker CTD_human 8702 B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 11285 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 60468 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 60468 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 572 BAD BCL2-associated agonist of cell death umls:C0007787 Ischemic Attack, Transient 0.21 1 Biomarker CTD_human 572 BAD BCL2-associated agonist of cell death umls:C0023418 Leukemia 0.21 1 Biomarker CTD_human 55971 BAIAP2L1 BAI1-associated protein 2-like 1 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 578 BAK1 BCL2-antagonist/killer 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 578 BAK1 BCL2-antagonist/killer 1 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 578 BAK1 BCL2-antagonist/killer 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8314 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) umls:C0345905 Intrahepatic cholangiocarcinoma 0.21 1 Biomarker CTD_human 8314 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) umls:C2931822 Nasopharyngeal carcinoma 0.21 1 Biomarker CTD_human 8314 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) umls:C0206769 Nevi and Melanomas 0.21 1 Biomarker CTD_human 8314 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) umls:C0040100 Thymoma 0.21 1 Biomarker CTD_human 56033 BARX1 BARX homeobox 1 umls:C0279628 Adenocarcinoma Of Esophagus 0.21 1 Biomarker CTD_human 10409 BASP1 brain abundant, membrane attached signal protein 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 10409 BASP1 brain abundant, membrane attached signal protein 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 10409 BASP1 brain abundant, membrane attached signal protein 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 581 BAX BCL2-associated X protein umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 581 BAX BCL2-associated X protein umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 581 BAX BCL2-associated X protein umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 581 BAX BCL2-associated X protein umls:C0021841 Intestinal Neoplasms 0.21 1 Biomarker CTD_human 581 BAX BCL2-associated X protein umls:C0022116 Ischemia 0.21 1 Biomarker CTD_human 581 BAX BCL2-associated X protein umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 581 BAX BCL2-associated X protein umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 581 BAX BCL2-associated X protein umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 581 BAX BCL2-associated X protein umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 11176 BAZ2A bromodomain adjacent to zinc finger domain, 2A umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 27113 BBC3 BCL2 binding component 3 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 27113 BBC3 BCL2 binding component 3 umls:C0014859 Esophageal Neoplasms 0.21 1 Therapeutic CTD_human 55212 BBS7 Bardet-Biedl syndrome 7 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 27241 BBS9 Bardet-Biedl syndrome 9 umls:C0010278 Craniosynostoses 0.21 1 Biomarker CTD_human 9564 BCAR1 breast cancer anti-estrogen resistance 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 8412 BCAR3 breast cancer anti-estrogen resistance 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 8537 BCAS1 breast carcinoma amplified sequence 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 586 BCAT1 branched chain amino-acid transaminase 1, cytosolic umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 586 BCAT1 branched chain amino-acid transaminase 1, cytosolic umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 587 BCAT2 branched chain amino-acid transaminase 2, mitochondrial umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 100307118 BCC1 Basal cell carcinoma, susceptibility to, 1 umls:C0007117 Carcinoma, Basal Cell 0.21 0 Biomarker CTD_human 100307119 BCC2 Basal cell carcinoma, susceptibility to, 2 umls:C0007117 Carcinoma, Basal Cell 0.21 0 Biomarker CTD_human 100307120 BCC3 Basal cell carcinoma, susceptibility to, 3 umls:C0007117 Carcinoma, Basal Cell 0.21 0 Biomarker CTD_human 100307121 BCC4 Basal cell carcinoma, susceptibility to, 4 umls:C0007117 Carcinoma, Basal Cell 0.21 0 Biomarker CTD_human 100307122 BCC5 Basal cell carcinoma, susceptibility to, 5 umls:C0007117 Carcinoma, Basal Cell 0.21 0 Biomarker CTD_human 100307123 BCC6 Basal cell carcinoma, susceptibility to, 6 umls:C0007117 Carcinoma, Basal Cell 0.21 0 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0003578 Apnea 0.21 30 Biomarker, Therapeutic CTD_human 590 BCHE butyrylcholinesterase umls:C1855794 Bamforth syndrome 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0236736 Cocaine-Related Disorders 0.21 7 Therapeutic CTD_human 590 BCHE butyrylcholinesterase umls:C0009241 Cognition Disorders 0.21 2 Biomarker, Therapeutic CTD_human 590 BCHE butyrylcholinesterase umls:C0011065 Death 0.21 1 Therapeutic CTD_human 590 BCHE butyrylcholinesterase umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0014549 Epilepsy, Tonic-Clonic 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0015644 Fasciculation 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0424295 Hyperkinesis 0.21 1 Therapeutic CTD_human 590 BCHE butyrylcholinesterase umls:C0020557 Hypertriglyceridemia 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0026769 Multiple Sclerosis 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0026850 Muscular Dystrophies 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0235032 Neurotoxicity Syndromes 0.21 1 Therapeutic CTD_human 590 BCHE butyrylcholinesterase umls:C0030552 Paresis 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0032343 Poisoning 0.21 4 Therapeutic CTD_human 590 BCHE butyrylcholinesterase umls:C0032787 Postoperative Complications 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0037315 Sleep Apnea Syndromes 0.21 1 Biomarker CTD_human 590 BCHE butyrylcholinesterase umls:C0039231 Tachycardia 0.21 1 Therapeutic CTD_human 590 BCHE butyrylcholinesterase umls:C0041105 Trismus 0.21 1 Biomarker CTD_human 53335 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 53335 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 53335 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0206681 Adenocarcinoma, Clear Cell 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0276535 AIDS-related Kaposi sarcoma 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0007621 Cell Transformation, Neoplastic 0.21 3 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0206637 Chondrosarcoma, Mesenchymal 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0016978 Gallbladder Neoplasms 0.21 1 Therapeutic CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0023891 Liver Cirrhosis, Alcoholic 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0025568 Metaplasia 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0027540 Necrosis 0.21 2 Therapeutic CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0027746 Nerve Degeneration 0.21 2 Biomarker, Therapeutic CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0029422 Osteochondrodysplasias 0.21 1 Biomarker CTD_human 596 BCL2 B-cell CLL/lymphoma 2 umls:C0037579 Soft Tissue Neoplasms 0.21 1 Therapeutic CTD_human 597 BCL2A1 BCL2-related protein A1 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 598 BCL2L1 BCL2-like 1 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 598 BCL2L1 BCL2-like 1 umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 598 BCL2L1 BCL2-like 1 umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 598 BCL2L1 BCL2-like 1 umls:C1384666 Hearing Loss 0.21 1 Therapeutic CTD_human 598 BCL2L1 BCL2-like 1 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 598 BCL2L1 BCL2-like 1 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 598 BCL2L1 BCL2-like 1 umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 607 BCL9 B-cell CLL/lymphoma 9 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 9774 BCLAF1 BCL2-associated transcription factor 1 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 54880 BCOR BCL6 corepressor umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 63035 BCORL1 BCL6 corepressor-like 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 613 BCR breakpoint cluster region umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 613 BCR breakpoint cluster region umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 644165 BCRP3 breakpoint cluster region pseudogene 3 umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 617 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like umls:C0023264 Leigh Disease 0.21 0 Biomarker CTD_human 246260 BDA1B Brachydactyly, type A1, locus B umls:C1862151 Brachydactyly type A1 0.21 0 Biomarker CTD_human 246260 BDA1B Brachydactyly, type A1, locus B umls:C1846949 Brachydactyly, Type A1, B 0.21 0 Biomarker CTD_human 85504 BDET Bleeding disorder, east Texas type umls:C1853831 Bleeding Disorder, East Texas Type 0.21 0 Biomarker CTD_human 622 BDH1 3-hydroxybutyrate dehydrogenase, type 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 623 BDKRB1 bradykinin receptor B1 umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 623 BDKRB1 bradykinin receptor B1 umls:C0038002 Splenomegaly 0.21 1 Biomarker CTD_human 623 BDKRB1 bradykinin receptor B1 umls:C0178324 Vascular System Injuries 0.21 1 Biomarker CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Therapeutic CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0015379 Extravasation of Diagnostic and Therapeutic Materials 0.21 1 Biomarker CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0019080 Hemorrhage 0.21 1 Biomarker CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0020452 Hyperemia 0.21 1 Biomarker CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0030193 Pain 0.21 1 Biomarker CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 624 BDKRB2 bradykinin receptor B2 umls:C0178324 Vascular System Injuries 0.21 1 Biomarker CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0005910 Body Weight 0.21 2 Biomarker CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0236736 Cocaine-Related Disorders 0.21 7 Biomarker, Therapeutic CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0011053 Deafness 0.21 2 Therapeutic CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0014549 Epilepsy, Tonic-Clonic 0.21 1 Biomarker CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0017639 Gliosis 0.21 1 Therapeutic CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0027746 Nerve Degeneration 0.21 5 Biomarker, Therapeutic CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 627 BDNF brain-derived neurotrophic factor umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 627 BDNF brain-derived neurotrophic factor umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 1 Biomarker CTD_human 8678 BECN1 beclin 1, autophagy related umls:C0024121 Lung Neoplasms 0.21 2 Therapeutic CTD_human 7439 BEST1 bestrophin 1 umls:C1828210 Macular dystrophy, concentric annular 0.21 0 Biomarker CTD_human 81865 BFIC2 Benign familial infantile convulsions-2 umls:C1853995 Convulsions, Benign Familial Infantile, 2 0.21 0 Biomarker CTD_human 8181 BFIS1 benign familial infantile convulsions umls:C0270851 Epilepsy, Benign Neonatal 0.21 0 Biomarker CTD_human 100271922 BFIS4 Convulsions, benign familial infantile, 4 umls:C2675462 Convulsions, Benign Familial Infantile, 4 0.21 0 Biomarker CTD_human 8419 BFSP2 beaded filament structural protein 2, phakinin umls:C1969032 Cataract, Autosomal Dominant, Multiple Types 1 0.21 0 Biomarker CTD_human 632 BGLAP bone gamma-carboxyglutamate (gla) protein umls:C0004096 Asthma 0.21 1 Biomarker CTD_human 632 BGLAP bone gamma-carboxyglutamate (gla) protein umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 632 BGLAP bone gamma-carboxyglutamate (gla) protein umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 633 BGN biglycan umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 8553 BHLHE40 basic helix-loop-helix family, member e40 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 635 BHMT betaine--homocysteine S-methyltransferase umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 637 BID BH3 interacting domain death agonist umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 329 BIRC2 baculoviral IAP repeat containing 2 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 330 BIRC3 baculoviral IAP repeat containing 3 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 330 BIRC3 baculoviral IAP repeat containing 3 umls:C0023418 Leukemia 0.21 1 Biomarker CTD_human 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0262584 Carcinoma, Small Cell 0.21 1 Biomarker CTD_human 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 332 BIRC5 baculoviral IAP repeat containing 5 umls:C0023462 Leukemia, Megakaryoblastic, Acute 0.21 1 Therapeutic CTD_human 57448 BIRC6 baculoviral IAP repeat containing 6 umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 388552 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 umls:C2931875 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 0.21 0 Biomarker CTD_human 388552 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 644 BLVRA biliverdin reductase A umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 645 BLVRB biliverdin reductase B umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 645 BLVRB biliverdin reductase B umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 648 BMI1 BMI1 proto-oncogene, polycomb ring finger umls:C0027686 Neovascularization, Pathologic 0.21 1 Biomarker CTD_human 353126 BMIQ10 Obesity, susceptibility to, on chromosome 10q umls:C2675659 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 0.21 0 Biomarker CTD_human 353126 BMIQ10 Obesity, susceptibility to, on chromosome 10q umls:C0028754 Obesity 0.21 0 Biomarker CTD_human 100233157 BMIQ13 Body mass index QTL13 umls:C2675915 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 0.21 0 Biomarker CTD_human 100233158 BMIQ14 Body mass index QTL14 umls:C2675914 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 0.21 0 Biomarker CTD_human 404683 BMIQ7 Obesity, susceptibility to, on chromosome 4 umls:C2675358 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 0.21 0 Biomarker CTD_human 404683 BMIQ7 Obesity, susceptibility to, on chromosome 4 umls:C0028754 Obesity 0.21 0 Biomarker CTD_human 56694 BMIQ8 body mass index quantitative trait locus 8 umls:C2676933 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 0.21 0 Biomarker CTD_human 56694 BMIQ8 body mass index quantitative trait locus 8 umls:C0028754 Obesity 0.21 0 Biomarker CTD_human 100188853 BMND7 bone mineral density quantiative trait locus 7 umls:C0029456 Osteoporosis 0.21 0 Biomarker CTD_human 100188854 BMND8 bone mineral density quantiative trait locus 8 umls:C0029456 Osteoporosis 0.21 0 Biomarker CTD_human 650 BMP2 bone morphogenetic protein 2 umls:C0005940 Bone Diseases 0.21 1 Therapeutic CTD_human 650 BMP2 bone morphogenetic protein 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 650 BMP2 bone morphogenetic protein 2 umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 652 BMP4 bone morphogenetic protein 4 umls:C1306214 ACTH-Secreting Pituitary Adenoma 0.21 1 Biomarker CTD_human 652 BMP4 bone morphogenetic protein 4 umls:C0042842 Vitamin A Deficiency 0.21 1 Biomarker CTD_human 654 BMP6 bone morphogenetic protein 6 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 655 BMP7 bone morphogenetic protein 7 umls:C0005974 Bone Resorption 0.21 1 Therapeutic CTD_human 655 BMP7 bone morphogenetic protein 7 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 655 BMP7 bone morphogenetic protein 7 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 655 BMP7 bone morphogenetic protein 7 umls:C0034069 Pulmonary Fibrosis 0.21 1 Therapeutic CTD_human 655 BMP7 bone morphogenetic protein 7 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 168667 BMPER BMP binding endothelial regulator umls:C0027412 Opioid-Related Disorders 0.21 1 Biomarker CTD_human 657 BMPR1A bone morphogenetic protein receptor, type IA umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 657 BMPR1A bone morphogenetic protein receptor, type IA umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 657 BMPR1A bone morphogenetic protein receptor, type IA umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 658 BMPR1B bone morphogenetic protein receptor, type IB umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 658 BMPR1B bone morphogenetic protein receptor, type IB umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 658 BMPR1B bone morphogenetic protein receptor, type IB umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 658 BMPR1B bone morphogenetic protein receptor, type IB umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 54796 BNC2 basonuclin 2 umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 54796 BNC2 basonuclin 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 54796 BNC2 basonuclin 2 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 664 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 umls:C0677050 Manganese Poisoning 0.21 1 Biomarker CTD_human 664 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 66037 BOLL boule-like RNA-binding protein umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 100294715 BOP Polymicrogyria, bilateral occipital umls:C2675191 Polymicrogyria, Bilateral Occipital 0.21 0 Biomarker CTD_human 23246 BOP1 block of proliferation 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 23246 BOP1 block of proliferation 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 64585 BOS2 Branchiootic syndrome 2 umls:C1852718 Branchiootic Syndrome 2 0.21 0 Biomarker CTD_human 51297 BPIFA1 BPI fold containing family A, member 1 umls:C2985290 Fetal Alcohol Spectrum Disorders 0.21 1 Biomarker CTD_human 140683 BPIFA2 BPI fold containing family A, member 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 619536 BPPV vestibulopathy, familial umls:C0155502 Benign Paroxysmal Positional Vertigo 0.21 0 Biomarker CTD_human 2186 BPTF bromodomain PHD finger transcription factor umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 672 BRCA1 breast cancer 1, early onset umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 672 BRCA1 breast cancer 1, early onset umls:C0376628 Chromosome Breakage 0.21 1 Biomarker CTD_human 672 BRCA1 breast cancer 1, early onset umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 672 BRCA1 breast cancer 1, early onset umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 675 BRCA2 breast cancer 2, early onset umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 675 BRCA2 breast cancer 2, early onset umls:C0206720 Neoplasms, Squamous Cell 0.21 1 Biomarker CTD_human 675 BRCA2 breast cancer 2, early onset umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 60500 BRCA3 breast cancer 3 umls:C1854365 Breast Cancer 3 0.21 0 Biomarker CTD_human 8068 BRCATA Breast cancer, 11;22 translocation associated umls:C1332441 Breast Cancer, 11;22 Translocation Associated Protein 0.21 0 Biomarker CTD_human 8105 BRCD1 cancer, familial, with in vitro radioresistance umls:C1861915 Cancer, Familial, with In Vitro Radioresistance 0.21 0 Biomarker CTD_human 23774 BRD1 bromodomain containing 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 10902 BRD8 bromodomain containing 8 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 83990 BRIP1 BRCA1 interacting protein C-terminal helicase 1 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 50963 BRKS1 Telopeptide lysyl hydroxylase, bone-specific umls:C1850168 Bruck syndrome 1 0.21 0 Biomarker CTD_human 100313948 BRV2 Vertigo, benign recurrent, 2 umls:C2751289 Vertigo, Benign Recurrent, 2 0.21 0 Biomarker CTD_human 54014 BRWD1 bromodomain and WD repeat domain containing 1 umls:C0028960 Oligospermia 0.21 1 Biomarker CTD_human 682 BSG basigin (Ok blood group) umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 682 BSG basigin (Ok blood group) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 682 BSG basigin (Ok blood group) umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 682 BSG basigin (Ok blood group) umls:C2936350 Plaque, Atherosclerotic 0.21 1 Biomarker CTD_human 8927 BSN bassoon presynaptic cytomatrix protein umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 683 BST1 bone marrow stromal cell antigen 1 umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 53339 BTBD1 BTB (POZ) domain containing 1 umls:C0520757 Delayed Emergence from Anesthesia 0.21 1 Biomarker CTD_human 121551 BTBD11 BTB (POZ) domain containing 11 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 685 BTC betacellulin umls:C0162568 Protoporphyria, Erythropoietic 0.21 1 Biomarker CTD_human 686 BTD biotinidase umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 686 BTD biotinidase umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 694 BTG1 B-cell translocation gene 1, anti-proliferative umls:C0026764 Multiple Myeloma 0.21 1 Biomarker CTD_human 694 BTG1 B-cell translocation gene 1, anti-proliferative umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 7832 BTG2 BTG family, member 2 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 695 BTK Bruton agammaglobulinemia tyrosine kinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 699 BUB1 BUB1 mitotic checkpoint serine/threonine kinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 701 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 701 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 701 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 337893 BULN Bulimia nervosa, susceptibility to umls:C2267227 Bulimia Nervosa 0.21 0 Biomarker CTD_human 9689 BZW1 basic leucine zipper and W2 domains 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8255 BZX Bazex syndrome umls:C0346104 Bazex-Dupre-Christol syndrome 0.21 0 Biomarker CTD_human 11067 C10orf10 chromosome 10 open reading frame 10 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 11067 C10orf10 chromosome 10 open reading frame 10 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 11067 C10orf10 chromosome 10 open reading frame 10 umls:C0023794 Lipidoses 0.21 3 Biomarker CTD_human 83938 C10orf11 chromosome 10 open reading frame 11 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 143379 C10orf82 chromosome 10 open reading frame 82 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 29125 C11orf21 chromosome 11 open reading frame 21 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21 1 Biomarker CTD_human 56946 C11orf30 chromosome 11 open reading frame 30 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 83638 C11orf68 chromosome 11 open reading frame 68 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 51501 C11orf73 chromosome 11 open reading frame 73 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 51501 C11orf73 chromosome 11 open reading frame 73 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 51501 C11orf73 chromosome 11 open reading frame 73 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 57103 C12orf5 chromosome 12 open reading frame 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 113246 C12orf57 chromosome 12 open reading frame 57 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 91574 C12orf65 chromosome 12 open reading frame 65 umls:C0162666 Mitochondrial Encephalomyopathies 0.21 1 Biomarker CTD_human 144577 C12orf66 chromosome 12 open reading frame 66 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 100170841 C17orf96 chromosome 17 open reading frame 96 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 83636 C19orf12 chromosome 19 open reading frame 12 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 147685 C19orf18 chromosome 19 open reading frame 18 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 374920 C19orf68 chromosome 19 open reading frame 68 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 55765 C1orf106 chromosome 1 open reading frame 106 umls:C0021390 Inflammatory Bowel Diseases 0.21 1 Biomarker CTD_human 712 C1QA complement component 1, q subcomponent, A chain umls:C0015230 Exanthema 0.21 1 Biomarker CTD_human 712 C1QA complement component 1, q subcomponent, A chain umls:C0017661 Glomerulonephritis, IGA 0.21 2 Biomarker CTD_human 712 C1QA complement component 1, q subcomponent, A chain umls:C0017662 Glomerulonephritis, Membranoproliferative 0.21 1 Biomarker CTD_human 712 C1QA complement component 1, q subcomponent, A chain umls:C0020951 Immune Complex Diseases 0.21 1 Biomarker CTD_human 713 C1QB complement component 1, q subcomponent, B chain umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 713 C1QB complement component 1, q subcomponent, B chain umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 713 C1QB complement component 1, q subcomponent, B chain umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 713 C1QB complement component 1, q subcomponent, B chain umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 708 C1QBP complement component 1, q subcomponent binding protein umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 114902 C1QTNF5 C1q and tumor necrosis factor related protein 5 umls:C0023308 Lens Diseases 0.21 1 Biomarker CTD_human 715 C1R complement component 1, r subcomponent umls:C3150274 COMPLEMENT COMPONENT C1r/C1s DEFICIENCY 0.21 0 Biomarker CTD_human 715 C1R complement component 1, r subcomponent umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 715 C1R complement component 1, r subcomponent umls:C0030524 Paratuberculosis 0.21 1 Biomarker CTD_human 716 C1S complement component 1, s subcomponent umls:C0004364 Autoimmune Diseases 0.21 1 Biomarker CTD_human 716 C1S complement component 1, s subcomponent umls:C0677607 Hashimoto Disease 0.21 1 Biomarker CTD_human 716 C1S complement component 1, s subcomponent umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 716 C1S complement component 1, s subcomponent umls:C2717905 Hereditary Angioedema Types I and II 0.21 1 Biomarker CTD_human 717 C2 complement component 2 umls:C0011633 Dermatomyositis 0.21 1 Biomarker CTD_human 717 C2 complement component 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 717 C2 complement component 2 umls:C1864205 Macular Degeneration, Age-Related, 1 0.21 0 Biomarker CTD_human 54149 C21orf91 chromosome 21 open reading frame 91 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 718 C3 complement component 3 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 718 C3 complement component 3 umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 718 C3 complement component 3 umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 718 C3 complement component 3 umls:C0030524 Paratuberculosis 0.21 1 Biomarker CTD_human 718 C3 complement component 3 umls:C0030807 Pemphigus 0.21 1 Biomarker CTD_human 718 C3 complement component 3 umls:C0034152 Purpura, Schoenlein-Henoch 0.21 1 Biomarker CTD_human 205428 C3orf58 chromosome 3 open reading frame 58 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 720 C4A complement component 4A (Rodgers blood group) umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 721 C4B complement component 4B (Chido blood group) umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 54969 C4orf27 chromosome 4 open reading frame 27 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 727 C5 complement component 5 umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 727 C5 complement component 5 umls:C0031154 Peritonitis 0.21 2 Biomarker CTD_human 728 C5AR1 complement component 5a receptor 1 umls:C0036983 Shock, Septic 0.21 1 Biomarker CTD_human 401207 C5orf63 chromosome 5 open reading frame 63 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 729 C6 complement component 6 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 729 C6 complement component 6 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 79624 C6orf211 chromosome 6 open reading frame 211 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 731 C8A complement component 8, alpha polypeptide umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 731 C8A complement component 8, alpha polypeptide umls:C0025289 Meningitis 0.21 1 Biomarker CTD_human 731 C8A complement component 8, alpha polypeptide umls:C0085396 Neisseriaceae Infections 0.21 1 Biomarker CTD_human 732 C8B complement component 8, beta polypeptide umls:C3495559 Arthritis, Juvenile 0.21 1 Biomarker CTD_human 732 C8B complement component 8, beta polypeptide umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 732 C8B complement component 8, beta polypeptide umls:C0025289 Meningitis 0.21 1 Biomarker CTD_human 732 C8B complement component 8, beta polypeptide umls:C0085396 Neisseriaceae Infections 0.21 1 Biomarker CTD_human 735 C9 complement component 9 umls:C0011633 Dermatomyositis 0.21 1 Biomarker CTD_human 735 C9 complement component 9 umls:C0041834 Erythema 0.21 1 Biomarker CTD_human 735 C9 complement component 9 umls:C0015456 Facial Dermatoses 0.21 1 Biomarker CTD_human 735 C9 complement component 9 umls:C0021051 Immunologic Deficiency Syndromes 0.21 2 Biomarker CTD_human 735 C9 complement component 9 umls:C0025294 Meningitis, Meningococcal 0.21 1 Biomarker CTD_human 735 C9 complement component 9 umls:C0027412 Opioid-Related Disorders 0.21 1 Biomarker CTD_human 84909 C9orf3 chromosome 9 open reading frame 3 umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 84909 C9orf3 chromosome 9 open reading frame 3 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 759 CA1 carbonic anhydrase I umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 759 CA1 carbonic anhydrase I umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 759 CA1 carbonic anhydrase I umls:C0038356 Stomach Neoplasms 0.21 2 Biomarker CTD_human 760 CA2 carbonic anhydrase II umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 760 CA2 carbonic anhydrase II umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 761 CA3 carbonic anhydrase III umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 761 CA3 carbonic anhydrase III umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 767 CA8 carbonic anhydrase VIII umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 768 CA9 carbonic anhydrase IX umls:C0002793 Anaplasia 0.21 1 Biomarker CTD_human 768 CA9 carbonic anhydrase IX umls:C0020542 Hypertension, Pulmonary 0.21 1 Biomarker CTD_human 51719 CAB39 calcium binding protein 39 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23523 CABIN1 calcineurin binding protein 1 umls:C0018800 Cardiomegaly 0.21 1 Therapeutic CTD_human 91768 CABLES1 Cdk5 and Abl enzyme substrate 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 26256 CABYR calcium binding tyrosine-(Y)-phosphorylation regulated umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 774 CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Therapeutic CTD_human 775 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit umls:C0003811 Arrhythmias, Cardiac 0.21 1 Biomarker CTD_human 775 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit umls:C0020615 Hypoglycemia 0.21 1 Biomarker CTD_human 775 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 775 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 776 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit umls:C0011053 Deafness 0.21 1 Biomarker CTD_human 776 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit umls:C0020428 Hyperaldosteronism 0.21 1 Biomarker CTD_human 8913 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 8912 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 779 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit umls:C0035229 Respiratory Insufficiency 0.21 1 Biomarker CTD_human 779 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit umls:C2749982 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 781 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 781 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 umls:C0020429 Hyperalgesia 0.21 2 Biomarker CTD_human 781 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 umls:C0027796 Neuralgia 0.21 3 Biomarker CTD_human 781 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 umls:C0030193 Pain 0.21 1 Biomarker CTD_human 9254 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 umls:C0004134 Ataxia 0.21 1 Biomarker CTD_human 9254 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 umls:C0008489 Chorea 0.21 1 Biomarker CTD_human 9254 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 784 CACNB3 calcium channel, voltage-dependent, beta 3 subunit umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 785 CACNB4 calcium channel, voltage-dependent, beta 4 subunit umls:C0014548 Epilepsy, Generalized 0.21 1 Biomarker CTD_human 790 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase umls:C0949116 Anemia, Hypoplastic, Congenital 0.21 1 Biomarker CTD_human 790 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase umls:C0002895 Anemia, Sickle Cell 0.21 1 Biomarker CTD_human 790 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase umls:C0005283 beta-Thalassemia 0.21 1 Biomarker CTD_human 790 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase umls:C0023440 Leukemia, Erythroblastic, Acute 0.21 1 Biomarker CTD_human 790 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase umls:C0037889 Spherocytosis, Hereditary 0.21 1 Biomarker CTD_human 23705 CADM1 cell adhesion molecule 1 umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 8618 CADPS Ca++-dependent secretion activator umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 93664 CADPS2 Ca++-dependent secretion activator 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 793 CALB1 calbindin 1, 28kDa umls:C0022658 Kidney Diseases 0.21 2 Biomarker CTD_human 794 CALB2 calbindin 2 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 794 CALB2 calbindin 2 umls:C0042164 Uveitis 0.21 1 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0085129 Bronchial Hyperreactivity 0.21 2 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0007370 Catalepsy 0.21 3 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0013080 Down Syndrome 0.21 1 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0013604 Edema 0.21 1 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0424295 Hyperkinesis 0.21 2 Therapeutic CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0338480 Migraine without Aura 0.21 2 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0600467 Neurogenic Inflammation 0.21 1 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0149940 Sciatic Neuropathy 0.21 1 Therapeutic CTD_human 796 CALCA calcitonin-related polypeptide alpha umls:C0043251 Wounds and Injuries 0.21 1 Therapeutic CTD_human 10203 CALCRL calcitonin receptor-like umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 800 CALD1 caldesmon 1 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 801 CALM1 calmodulin 1 (phosphorylase kinase, delta) umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 801 CALM1 calmodulin 1 (phosphorylase kinase, delta) umls:C0024809 Marijuana Abuse 0.21 1 Biomarker CTD_human 801 CALM1 calmodulin 1 (phosphorylase kinase, delta) umls:C0031391 Phencyclidine Abuse 0.21 1 Biomarker CTD_human 801 CALM1 calmodulin 1 (phosphorylase kinase, delta) umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 805 CALM2 calmodulin 2 (phosphorylase kinase, delta) umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 805 CALM2 calmodulin 2 (phosphorylase kinase, delta) umls:C0024809 Marijuana Abuse 0.21 1 Biomarker CTD_human 805 CALM2 calmodulin 2 (phosphorylase kinase, delta) umls:C0031391 Phencyclidine Abuse 0.21 1 Biomarker CTD_human 811 CALR calreticulin umls:C0009404 Colorectal Neoplasms 0.21 1 Therapeutic CTD_human 811 CALR calreticulin umls:C0025205 Melanoma, Experimental 0.21 1 Therapeutic CTD_human 811 CALR calreticulin umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 811 CALR calreticulin umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 813 CALU calumenin umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 815 CAMK2A calcium/calmodulin-dependent protein kinase II alpha umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 815 CAMK2A calcium/calmodulin-dependent protein kinase II alpha umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 816 CAMK2B calcium/calmodulin-dependent protein kinase II beta umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 816 CAMK2B calcium/calmodulin-dependent protein kinase II beta umls:C0024809 Marijuana Abuse 0.21 1 Biomarker CTD_human 816 CAMK2B calcium/calmodulin-dependent protein kinase II beta umls:C0031391 Phencyclidine Abuse 0.21 1 Biomarker CTD_human 816 CAMK2B calcium/calmodulin-dependent protein kinase II beta umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 817 CAMK2D calcium/calmodulin-dependent protein kinase II delta umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 817 CAMK2D calcium/calmodulin-dependent protein kinase II delta umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 814 CAMK4 calcium/calmodulin-dependent protein kinase IV umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 84254 CAMKK1 calcium/calmodulin-dependent protein kinase kinase 1, alpha umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 100381210 CAMPD1 Camptodactyly 1 umls:C2751430 Camptodactyly 1 0.21 0 Biomarker CTD_human 117084 CANDF1 candidiasis, familial 1 umls:C2751429 Candidiasis, Familial, 1 0.21 0 Biomarker CTD_human 338434 CANDN1 candidiasis, nail 1 (with ICAM1 deficiency) umls:C1843306 Candidiasis, Familial, 3 0.21 0 Biomarker CTD_human 821 CANX calnexin umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 821 CANX calnexin umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 10487 CAP1 CAP, adenylate cyclase-associated protein 1 (yeast) umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 822 CAPG capping protein (actin filament), gelsolin-like umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 822 CAPG capping protein (actin filament), gelsolin-like umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 822 CAPG capping protein (actin filament), gelsolin-like umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 822 CAPG capping protein (actin filament), gelsolin-like umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 823 CAPN1 calpain 1, (mu/I) large subunit umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 823 CAPN1 calpain 1, (mu/I) large subunit umls:C0027651 Neoplasms 0.21 1 Therapeutic CTD_human 11132 CAPN10 calpain 10 umls:C1832544 Diabetes Mellitus, Noninsulin-Dependent, 1 0.21 0 Biomarker CTD_human 11132 CAPN10 calpain 10 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 440854 CAPN14 calpain 14 umls:C0341106 Eosinophilic Esophagitis 0.21 1 Biomarker CTD_human 824 CAPN2 calpain 2, (m/II) large subunit umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 826 CAPNS1 calpain, small subunit 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4076 CAPRIN1 cell cycle associated protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 829 CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 830 CAPZA2 capping protein (actin filament) muscle Z-line, alpha 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 832 CAPZB capping protein (actin filament) muscle Z-line, beta umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 832 CAPZB capping protein (actin filament) muscle Z-line, beta umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 832 CAPZB capping protein (actin filament) muscle Z-line, beta umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 832 CAPZB capping protein (actin filament) muscle Z-line, beta umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 84433 CARD11 caspase recruitment domain family, member 11 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 84433 CARD11 caspase recruitment domain family, member 11 umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 64170 CARD9 caspase recruitment domain family, member 9 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55739 CARKD carbohydrate kinase domain containing umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 55739 CARKD carbohydrate kinase domain containing umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 10498 CARM1 coactivator-associated arginine methyltransferase 1 umls:C0033860 Psoriasis 0.21 1 Biomarker CTD_human 9607 CARTPT CART prepropeptide umls:C0020429 Hyperalgesia 0.21 1 Therapeutic CTD_human 9607 CARTPT CART prepropeptide umls:C0020550 Hyperthyroidism 0.21 1 Biomarker CTD_human 100270680 CASC11 cancer susceptibility candidate 11 (non-protein coding) umls:C0005695 Urinary Bladder Neoplasms 0.21 0 Biomarker CTD_human 57082 CASC5 cancer susceptibility candidate 5 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C0007760 Cerebellar Diseases 0.21 1 Biomarker CTD_human 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 8573 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0598608 Hyperhomocysteinemia 0.21 1 Biomarker CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 834 CASP1 caspase 1, apoptosis-related cysteine peptidase umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 835 CASP2 caspase 2, apoptosis-related cysteine peptidase umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0013604 Edema 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0035305 Retinal Detachment 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0243026 Sepsis 0.21 1 Biomarker CTD_human 836 CASP3 caspase 3, apoptosis-related cysteine peptidase umls:C0038220 Status Epilepticus 0.21 2 Biomarker CTD_human 837 CASP4 caspase 4, apoptosis-related cysteine peptidase umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 840 CASP7 caspase 7, apoptosis-related cysteine peptidase umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 840 CASP7 caspase 7, apoptosis-related cysteine peptidase umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 840 CASP7 caspase 7, apoptosis-related cysteine peptidase umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 840 CASP7 caspase 7, apoptosis-related cysteine peptidase umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0013604 Edema 0.21 1 Biomarker CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0014859 Esophageal Neoplasms 0.21 2 Biomarker CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0950124 Papillomavirus Infections 0.21 1 Biomarker CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 841 CASP8 caspase 8, apoptosis-related cysteine peptidase umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 842 CASP9 caspase 9, apoptosis-related cysteine peptidase umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 842 CASP9 caspase 9, apoptosis-related cysteine peptidase umls:C0013604 Edema 0.21 1 Biomarker CTD_human 842 CASP9 caspase 9, apoptosis-related cysteine peptidase umls:C0007787 Ischemic Attack, Transient 0.21 1 Biomarker CTD_human 842 CASP9 caspase 9, apoptosis-related cysteine peptidase umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 842 CASP9 caspase 9, apoptosis-related cysteine peptidase umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 842 CASP9 caspase 9, apoptosis-related cysteine peptidase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 842 CASP9 caspase 9, apoptosis-related cysteine peptidase umls:C0035305 Retinal Detachment 0.21 1 Biomarker CTD_human 831 CAST calpastatin umls:C0162557 Liver Failure, Acute 0.21 1 Therapeutic CTD_human 831 CAST calpastatin umls:C0027540 Necrosis 0.21 1 Therapeutic CTD_human 847 CAT catalase umls:C0000771 Abnormalities, Drug-Induced 0.21 1 Therapeutic CTD_human 847 CAT catalase umls:C0242488 Acute Lung Injury 0.21 1 Therapeutic CTD_human 847 CAT catalase umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0004045 Asphyxia Neonatorum 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0004943 Behcet Syndrome 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0007621 Cell Transformation, Neoplastic 0.21 3 Therapeutic CTD_human 847 CAT catalase umls:C0242656 Disease Progression 0.21 3 Biomarker, Therapeutic CTD_human 847 CAT catalase umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0013386 Dyskinesia, Drug-Induced 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0013604 Edema 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0017638 Glioma 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0019158 Hepatitis 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0020452 Hyperemia 0.21 1 Therapeutic CTD_human 847 CAT catalase umls:C0020649 Hypotension 0.21 1 Therapeutic CTD_human 847 CAT catalase umls:C0022593 Keratosis 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0027540 Necrosis 0.21 2 Therapeutic CTD_human 847 CAT catalase umls:C0027626 Neoplasm Invasiveness 0.21 2 Therapeutic CTD_human 847 CAT catalase umls:C0029458 Osteoporosis, Postmenopausal 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0349231 Phobic Disorders 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0033626 Protein Deficiency 0.21 1 Biomarker CTD_human 847 CAT catalase umls:C0034063 Pulmonary Edema 0.21 1 Therapeutic CTD_human 847 CAT catalase umls:C0034065 Pulmonary Embolism 0.21 1 Therapeutic CTD_human 847 CAT catalase umls:C0036572 Seizures 0.21 3 Biomarker, Therapeutic CTD_human 847 CAT catalase umls:C0038220 Status Epilepticus 0.21 4 Biomarker, Therapeutic CTD_human 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0004238 Atrial Fibrillation 0.21 2 Biomarker CTD_human 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0919267 Ovarian Neoplasms 0.21 1 Therapeutic CTD_human 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 858 CAV2 caveolin 2 umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 858 CAV2 caveolin 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 859 CAV3 caveolin 3 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 859 CAV3 caveolin 3 umls:C2931337 Chromosome 3, monosomy 3p25 0.21 1 Biomarker CTD_human 859 CAV3 caveolin 3 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 859 CAV3 caveolin 3 umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 865 CBFB core-binding factor, beta subunit umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 865 CBFB core-binding factor, beta subunit umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 865 CBFB core-binding factor, beta subunit umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 865 CBFB core-binding factor, beta subunit umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 865 CBFB core-binding factor, beta subunit umls:C0029396 Ossification, Heterotopic 0.21 1 Biomarker CTD_human 867 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase umls:C0010417 Cryptorchidism 0.21 1 Biomarker CTD_human 867 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 867 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase umls:C0042384 Vasculitis 0.21 1 Biomarker CTD_human 147381 CBLN2 cerebellin 2 precursor umls:C0020542 Hypertension, Pulmonary 0.21 1 Biomarker CTD_human 873 CBR1 carbonyl reductase 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10951 CBX1 chromobox homolog 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 23492 CBX7 chromobox homolog 7 umls:C0026764 Multiple Myeloma 0.21 1 Biomarker CTD_human 878 CCA1 cataract, congenital, cerulean type, 1 umls:C0344523 Cerulean cataract 0.21 0 Biomarker CTD_human 882 CCAL1 chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) umls:C1833499 Chondrocalcinosis 1 0.21 0 Biomarker CTD_human 147372 CCBE1 collagen and calcium binding EGF domains 1 umls:C0282631 Facies 0.21 1 Biomarker CTD_human 147372 CCBE1 collagen and calcium binding EGF domains 1 umls:C0020305 Hydrops Fetalis 0.21 1 Biomarker CTD_human 147372 CCBE1 collagen and calcium binding EGF domains 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 883 CCBL1 cysteine conjugate-beta lyase, cytoplasmic umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 883 CCBL1 cysteine conjugate-beta lyase, cytoplasmic umls:C0022665 Kidney Neoplasms 0.21 1 Biomarker CTD_human 255101 CCDC108 coiled-coil domain containing 108 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 79879 CCDC134 coiled-coil domain containing 134 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 79879 CCDC134 coiled-coil domain containing 134 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 339230 CCDC137 coiled-coil domain containing 137 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 80127 CCDC176 coiled-coil domain containing 176 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 160762 CCDC63 coiled-coil domain containing 63 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 151887 CCDC80 coiled-coil domain containing 80 umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 55297 CCDC91 coiled-coil domain containing 91 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 54535 CCHCR1 coiled-coil alpha-helical rod protein 1 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 885 CCK cholecystokinin umls:C0007370 Catalepsy 0.21 2 Therapeutic CTD_human 885 CCK cholecystokinin umls:C0013386 Dyskinesia, Drug-Induced 0.21 1 Therapeutic CTD_human 885 CCK cholecystokinin umls:C0017178 Gastrointestinal Diseases 0.21 1 Therapeutic CTD_human 885 CCK cholecystokinin umls:C0424295 Hyperkinesis 0.21 2 Therapeutic CTD_human 885 CCK cholecystokinin umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 885 CCK cholecystokinin umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 885 CCK cholecystokinin umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 885 CCK cholecystokinin umls:C0038358 Stomach Ulcer 0.21 6 Biomarker, Therapeutic CTD_human 885 CCK cholecystokinin umls:C0041657 Unconsciousness 0.21 1 Biomarker CTD_human 887 CCKBR cholecystokinin B receptor umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 887 CCKBR cholecystokinin B receptor umls:C0028768 Obsessive-Compulsive Disorder 0.21 1 Biomarker CTD_human 887 CCKBR cholecystokinin B receptor umls:C0038587 Substance Withdrawal Syndrome 0.21 2 Biomarker CTD_human 6346 CCL1 chemokine (C-C motif) ligand 1 umls:C0020542 Hypertension, Pulmonary 0.21 1 Biomarker CTD_human 6346 CCL1 chemokine (C-C motif) ligand 1 umls:C0027707 Nephritis, Interstitial 0.21 1 Biomarker CTD_human 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 6361 CCL17 chemokine (C-C motif) ligand 17 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6362 CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 6362 CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 6363 CCL19 chemokine (C-C motif) ligand 19 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6363 CCL19 chemokine (C-C motif) ligand 19 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0006663 Calcinosis 0.21 2 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0020500 Hyperoxaluria 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0013264 Muscular Dystrophy, Duchenne 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0027707 Nephritis, Interstitial 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0032226 Pleural Diseases 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0037926 Spinal Cord Compression 0.21 1 Biomarker CTD_human 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 6364 CCL20 chemokine (C-C motif) ligand 20 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 6364 CCL20 chemokine (C-C motif) ligand 20 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6364 CCL20 chemokine (C-C motif) ligand 20 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 6364 CCL20 chemokine (C-C motif) ligand 20 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Therapeutic CTD_human 6364 CCL20 chemokine (C-C motif) ligand 20 umls:C0011854 Diabetes Mellitus, Type 1 0.21 1 Therapeutic CTD_human 6364 CCL20 chemokine (C-C motif) ligand 20 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6364 CCL20 chemokine (C-C motif) ligand 20 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 6364 CCL20 chemokine (C-C motif) ligand 20 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6369 CCL24 chemokine (C-C motif) ligand 24 umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 6369 CCL24 chemokine (C-C motif) ligand 24 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0007786 Brain Ischemia 0.21 2 Biomarker CTD_human 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0017658 Glomerulonephritis 0.21 1 Biomarker CTD_human 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0034069 Pulmonary Fibrosis 0.21 2 Biomarker CTD_human 6348 CCL3 chemokine (C-C motif) ligand 3 umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 414062 CCL3L3 chemokine (C-C motif) ligand 3-like 3 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 414062 CCL3L3 chemokine (C-C motif) ligand 3-like 3 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0017658 Glomerulonephritis 0.21 1 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0020517 Hypersensitivity 0.21 2 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 6351 CCL4 chemokine (C-C motif) ligand 4 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6352 CCL5 chemokine (C-C motif) ligand 5 umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 6352 CCL5 chemokine (C-C motif) ligand 5 umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 6352 CCL5 chemokine (C-C motif) ligand 5 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6354 CCL7 chemokine (C-C motif) ligand 7 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 6354 CCL7 chemokine (C-C motif) ligand 7 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6354 CCL7 chemokine (C-C motif) ligand 7 umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 6355 CCL8 chemokine (C-C motif) ligand 8 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6355 CCL8 chemokine (C-C motif) ligand 8 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 6355 CCL8 chemokine (C-C motif) ligand 8 umls:C1619692 Nephrogenic Fibrosing Dermopathy 0.21 1 Biomarker CTD_human 6355 CCL8 chemokine (C-C motif) ligand 8 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 6355 CCL8 chemokine (C-C motif) ligand 8 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 83605 CCM2 cerebral cavernous malformation 2 umls:C0752160 Hemangioma, Cavernous, Central Nervous System 0.21 1 Biomarker CTD_human 8900 CCNA1 cyclin A1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 8900 CCNA1 cyclin A1 umls:C0950124 Papillomavirus Infections 0.21 1 Biomarker CTD_human 890 CCNA2 cyclin A2 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 890 CCNA2 cyclin A2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 891 CCNB1 cyclin B1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 891 CCNB1 cyclin B1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 9133 CCNB2 cyclin B2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 892 CCNC cyclin C umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 595 CCND1 cyclin D1 umls:C0007528 Cecal Neoplasms 0.21 1 Biomarker CTD_human 595 CCND1 cyclin D1 umls:C0007621 Cell Transformation, Neoplastic 0.21 2 Biomarker, Therapeutic CTD_human 595 CCND1 cyclin D1 umls:C0018923 Hemangiosarcoma 0.21 1 Biomarker CTD_human 595 CCND1 cyclin D1 umls:C0024667 Mammary Neoplasms, Animal 0.21 4 Biomarker CTD_human 595 CCND1 cyclin D1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 595 CCND1 cyclin D1 umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 595 CCND1 cyclin D1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 595 CCND1 cyclin D1 umls:C0042076 Urologic Neoplasms 0.21 1 Biomarker CTD_human 894 CCND2 cyclin D2 umls:C0018800 Cardiomegaly 0.21 1 Therapeutic CTD_human 894 CCND2 cyclin D2 umls:C0016059 Fibrosis 0.21 1 Therapeutic CTD_human 894 CCND2 cyclin D2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 894 CCND2 cyclin D2 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 23582 CCNDBP1 cyclin D-type binding-protein 1 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 898 CCNE1 cyclin E1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 898 CCNE1 cyclin E1 umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 898 CCNE1 cyclin E1 umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 898 CCNE1 cyclin E1 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 9134 CCNE2 cyclin E2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 9134 CCNE2 cyclin E2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 900 CCNG1 cyclin G1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 902 CCNH cyclin H umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 902 CCNH cyclin H umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 57018 CCNL1 cyclin L1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10309 CCNO cyclin O umls:C0600260 Lung Diseases, Obstructive 0.21 1 Biomarker CTD_human 1230 CCR1 chemokine (C-C motif) receptor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1230 CCR1 chemokine (C-C motif) receptor 1 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 1230 CCR1 chemokine (C-C motif) receptor 1 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 1230 CCR1 chemokine (C-C motif) receptor 1 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 2826 CCR10 chemokine (C-C motif) receptor 10 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 729230 CCR2 chemokine (C-C motif) receptor 2 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 729230 CCR2 chemokine (C-C motif) receptor 2 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 729230 CCR2 chemokine (C-C motif) receptor 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 729230 CCR2 chemokine (C-C motif) receptor 2 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 729230 CCR2 chemokine (C-C motif) receptor 2 umls:C0038220 Status Epilepticus 0.21 2 Biomarker CTD_human 1232 CCR3 chemokine (C-C motif) receptor 3 umls:C1319853 Asthma, Aspirin-Induced 0.21 1 Biomarker CTD_human 1232 CCR3 chemokine (C-C motif) receptor 3 umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 1232 CCR3 chemokine (C-C motif) receptor 3 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 1232 CCR3 chemokine (C-C motif) receptor 3 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 1233 CCR4 chemokine (C-C motif) receptor 4 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 1233 CCR4 chemokine (C-C motif) receptor 4 umls:C0017638 Glioma 0.21 1 Biomarker CTD_human 1233 CCR4 chemokine (C-C motif) receptor 4 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 1234 CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 1234 CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) umls:C2675864 Diabetes Mellitus, Insulin-Dependent, 22 0.21 0 Biomarker CTD_human 1235 CCR6 chemokine (C-C motif) receptor 6 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 1235 CCR6 chemokine (C-C motif) receptor 6 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 1236 CCR7 chemokine (C-C motif) receptor 7 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 1237 CCR8 chemokine (C-C motif) receptor 8 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 10803 CCR9 chemokine (C-C motif) receptor 9 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 10803 CCR9 chemokine (C-C motif) receptor 9 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 10803 CCR9 chemokine (C-C motif) receptor 9 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 9034 CCRL2 chemokine (C-C motif) receptor-like 2 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 9973 CCS copper chaperone for superoxide dismutase umls:C0011156 Deficiency Diseases 0.21 1 Biomarker CTD_human 401145 CCSER1 coiled-coil serine-rich protein 1 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 907 CCT cataract, congenital, total umls:C2930878 Cataract, congenital, with microcornea or slight microphthalmia 0.21 0 Biomarker CTD_human 10576 CCT2 chaperonin containing TCP1, subunit 2 (beta) umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 7203 CCT3 chaperonin containing TCP1, subunit 3 (gamma) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 22948 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 22948 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 22948 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 10693 CCT6B chaperonin containing TCP1, subunit 6B (zeta 2) umls:C0006413 Burkitt Lymphoma 0.21 1 Biomarker CTD_human 10574 CCT7 chaperonin containing TCP1, subunit 7 (eta) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 10574 CCT7 chaperonin containing TCP1, subunit 7 (eta) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 10574 CCT7 chaperonin containing TCP1, subunit 7 (eta) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7792 CCV cataract, congenital, Volkmann type umls:C1861833 Cataract congenital Volkmann type 0.21 0 Biomarker CTD_human 135228 CD109 CD109 molecule umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 135228 CD109 CD109 molecule umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 929 CD14 CD14 molecule umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 929 CD14 CD14 molecule umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 9332 CD163 CD163 molecule umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 9332 CD163 CD163 molecule umls:C0007273 Carotid Artery Diseases 0.21 1 Biomarker CTD_human 9332 CD163 CD163 molecule umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 283316 CD163L1 CD163 molecule-like 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8763 CD164 CD164 molecule, sialomucin umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 912 CD1D CD1d molecule umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 914 CD2 CD2 molecule umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 914 CD2 CD2 molecule umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 10666 CD226 CD226 molecule umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 10666 CD226 CD226 molecule umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 939 CD27 CD27 molecule umls:C0006625 Cachexia 0.21 1 Biomarker CTD_human 939 CD27 CD27 molecule umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 29126 CD274 CD274 molecule umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 29126 CD274 CD274 molecule umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 29126 CD274 CD274 molecule umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 940 CD28 CD28 molecule umls:C0005138 Berylliosis 0.21 1 Biomarker CTD_human 940 CD28 CD28 molecule umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 947 CD34 CD34 molecule umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 948 CD36 CD36 molecule (thrombospondin receptor) umls:C1855456 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL 0.21 0 Biomarker CTD_human 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0038160 Staphylococcal Infections 0.21 1 Biomarker CTD_human 948 CD36 CD36 molecule (thrombospondin receptor) umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 951 CD37 CD37 molecule umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 952 CD38 CD38 molecule umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 915 CD3D CD3d molecule, delta (CD3-TCR complex) umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 915 CD3D CD3d molecule, delta (CD3-TCR complex) umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 915 CD3D CD3d molecule, delta (CD3-TCR complex) umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 915 CD3D CD3d molecule, delta (CD3-TCR complex) umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 915 CD3D CD3d molecule, delta (CD3-TCR complex) umls:C1833275 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 0.21 0 Biomarker CTD_human 915 CD3D CD3d molecule, delta (CD3-TCR complex) umls:C1837028 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 0.21 0 Biomarker CTD_human 916 CD3E CD3e molecule, epsilon (CD3-TCR complex) umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 916 CD3E CD3e molecule, epsilon (CD3-TCR complex) umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 916 CD3E CD3e molecule, epsilon (CD3-TCR complex) umls:C1837028 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 0.21 0 Biomarker CTD_human 917 CD3G CD3g molecule, gamma (CD3-TCR complex) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 920 CD4 CD4 molecule umls:C0162526 AIDS-Related Opportunistic Infections 0.21 1 Biomarker CTD_human 920 CD4 CD4 molecule umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 920 CD4 CD4 molecule umls:C0013264 Muscular Dystrophy, Duchenne 0.21 1 Biomarker CTD_human 920 CD4 CD4 molecule umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 958 CD40 CD40 molecule, TNF receptor superfamily member 5 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 959 CD40LG CD40 ligand umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 959 CD40LG CD40 ligand umls:C0020542 Hypertension, Pulmonary 0.21 1 Biomarker CTD_human 959 CD40LG CD40 ligand umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 960 CD44 CD44 molecule (Indian blood group) umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 921 CD5 CD5 molecule umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 963 CD53 CD53 molecule umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1604 CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 1604 CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 965 CD58 CD58 molecule umls:C0079774 Lymphoma, T-Cell, Peripheral 0.21 1 Biomarker CTD_human 967 CD63 CD63 molecule umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 968 CD68 CD68 molecule umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 968 CD68 CD68 molecule umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 968 CD68 CD68 molecule umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 969 CD69 CD69 molecule umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 969 CD69 CD69 molecule umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 924 CD7 CD7 molecule umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 924 CD7 CD7 molecule umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 972 CD74 CD74 molecule, major histocompatibility complex, class II invariant chain umls:C0162557 Liver Failure, Acute 0.21 1 Biomarker CTD_human 974 CD79B CD79b molecule, immunoglobulin-associated beta umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 941 CD80 CD80 molecule umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 941 CD80 CD80 molecule umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 3732 CD82 CD82 molecule umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3732 CD82 CD82 molecule umls:C0027626 Neoplasm Invasiveness 0.21 1 Therapeutic CTD_human 9308 CD83 CD83 molecule umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 8832 CD84 CD84 molecule umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 942 CD86 CD86 molecule umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 925 CD8A CD8a molecule umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 928 CD9 CD9 molecule umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 928 CD9 CD9 molecule umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.21 1 Biomarker CTD_human 928 CD9 CD9 molecule umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 976 CD97 CD97 molecule umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 4267 CD99 CD99 molecule umls:C0206637 Chondrosarcoma, Mesenchymal 0.21 1 Biomarker CTD_human 978 CDA cytidine deaminase umls:C1458155 Breast Neoplasms 0.21 1 Therapeutic CTD_human 574043 CDAGS Craniosynostosis, anal anomalies, and porokeratosis syndrome umls:C1864186 Craniosynostosis, anal anomalies, and porokeratosis 0.21 0 Biomarker CTD_human 991 CDC20 cell division cycle 20 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 998 CDC42 cell division cycle 42 umls:C0001624 Adrenal Gland Neoplasms 0.21 1 Biomarker CTD_human 998 CDC42 cell division cycle 42 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 998 CDC42 cell division cycle 42 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 998 CDC42 cell division cycle 42 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 990 CDC6 cell division cycle 6 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 990 CDC6 cell division cycle 6 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 157313 CDCA2 cell division cycle associated 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 64866 CDCP1 CUB domain containing protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 64866 CDCP1 CUB domain containing protein 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0026936 Mycoplasma Infections 0.21 1 Biomarker CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0027626 Neoplasm Invasiveness 0.21 2 Biomarker, Therapeutic CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0282612 Prostatic Intraepithelial Neoplasia 0.21 1 Biomarker CTD_human 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 1012 CDH13 cadherin 13 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 1012 CDH13 cadherin 13 umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 1012 CDH13 cadherin 13 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 1012 CDH13 cadherin 13 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1013 CDH15 cadherin 15, type 1, M-cadherin (myotubule) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1000 CDH2 cadherin 2, type 1, N-cadherin (neuronal) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1000 CDH2 cadherin 2, type 1, N-cadherin (neuronal) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 1000 CDH2 cadherin 2, type 1, N-cadherin (neuronal) umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 1000 CDH2 cadherin 2, type 1, N-cadherin (neuronal) umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 1001 CDH3 cadherin 3, type 1, P-cadherin (placental) umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 1003 CDH5 cadherin 5, type 2 (vascular endothelium) umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 1003 CDH5 cadherin 5, type 2 (vascular endothelium) umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 1003 CDH5 cadherin 5, type 2 (vascular endothelium) umls:C0232347 No-Reflow Phenomenon 0.21 1 Therapeutic CTD_human 1004 CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) umls:C0006625 Cachexia 0.21 1 Biomarker CTD_human 1005 CDH7 cadherin 7, type 2 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 222256 CDHR3 cadherin-related family member 3 umls:C0004096 Asthma 0.21 1 Biomarker CTD_human 23552 CDK20 cyclin-dependent kinase 20 umls:C0001973 Alcoholism 0.21 1 Biomarker CTD_human 8099 CDK2AP1 cyclin-dependent kinase 2 associated protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1019 CDK4 cyclin-dependent kinase 4 umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1019 CDK4 cyclin-dependent kinase 4 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1020 CDK5 cyclin-dependent kinase 5 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1021 CDK6 cyclin-dependent kinase 6 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 1022 CDK7 cyclin-dependent kinase 7 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 54901 CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 umls:C0005612 Birth Weight 0.21 1 Biomarker CTD_human 54901 CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 umls:C0005910 Body Weight 0.21 2 Biomarker CTD_human 6792 CDKL5 cyclin-dependent kinase-like 5 umls:C3463992 Epileptic Encephalopathy, Early Infantile, 1 0.21 0 Biomarker CTD_human 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0238288 Muscular Dystrophy, Facioscapulohumeral 0.21 1 Biomarker CTD_human 1026 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0206669 Adenoma, Liver Cell 0.21 1 Biomarker CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0079487 Helicobacter Infections 0.21 1 Biomarker CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0022665 Kidney Neoplasms 0.21 1 Biomarker CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0034885 Rectal Neoplasms 0.21 1 Biomarker CTD_human 1027 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) umls:C0042138 Uterine Neoplasms 0.21 1 Biomarker CTD_human 1028 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 1028 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) umls:C0014173 Endometrial Hyperplasia 0.21 1 Biomarker CTD_human 1028 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 1028 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) umls:C0024121 Lung Neoplasms 0.21 2 Biomarker CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0001624 Adrenal Gland Neoplasms 0.21 1 Biomarker CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0031117 Peripheral Nervous System Diseases 0.21 2 Biomarker CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0032343 Poisoning 0.21 1 Biomarker CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0040715 Translocation, Genetic 0.21 1 Biomarker CTD_human 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0042065 Urogenital Neoplasms 0.21 1 Biomarker CTD_human 1030 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) umls:C0032343 Poisoning 0.21 1 Biomarker CTD_human 100048912 CDKN2B-AS1 CDKN2B antisense RNA 1 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21 1 Biomarker CTD_human 1032 CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1033 CDKN3 cyclin-dependent kinase inhibitor 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1036 CDO1 cysteine dioxygenase type 1 umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 1036 CDO1 cysteine dioxygenase type 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 8163 CDR3 Cerebellar degeneration-related autoantigen-3 umls:C1865782 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 0.21 0 Biomarker CTD_human 1040 CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 1040 CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1040 CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1041 CDSN corneodesmosin umls:C1840299 Hypotrichosis Simplex of Scalp 0.21 0 Biomarker CTD_human 81620 CDT1 chromatin licensing and DNA replication factor 1 umls:C1868684 Meier-Gorlin syndrome 0.21 1 Biomarker CTD_human 9425 CDYL chromodomain protein, Y-like umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 634 CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1048 CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4680 CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1050 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 1050 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 1050 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha umls:C0027666 Neoplasms, Radiation-Induced 0.21 1 Biomarker CTD_human 1050 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 1050 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 1051 CEBPB CCAAT/enhancer binding protein (C/EBP), beta umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 1051 CEBPB CCAAT/enhancer binding protein (C/EBP), beta umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 1051 CEBPB CCAAT/enhancer binding protein (C/EBP), beta umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 1051 CEBPB CCAAT/enhancer binding protein (C/EBP), beta umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 1052 CEBPD CCAAT/enhancer binding protein (C/EBP), delta umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 1055 CECR cat eye syndrome chromosome region umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 1055 CECR cat eye syndrome chromosome region umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1055 CECR cat eye syndrome chromosome region umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 27443 CECR2 cat eye syndrome chromosome region, candidate 2 umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 63036 CELA2A chymotrypsin-like elastase family, member 2A umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 10659 CELF2 CUGBP, Elav-like family member 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10659 CELF2 CUGBP, Elav-like family member 2 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 100188872 CELIAC10 Celiac disease, susceptibility to, 10 umls:C0007570 Celiac Disease 0.21 0 Biomarker CTD_human 100188873 CELIAC11 Celiac disease, susceptibility to, 11 umls:C0007570 Celiac Disease 0.21 0 Biomarker CTD_human 100188874 CELIAC12 Celiac disease, susceptibility to, 12 umls:C0007570 Celiac Disease 0.21 0 Biomarker CTD_human 100188875 CELIAC13 Celiac disease, susceptibility to, 13 umls:C0007570 Celiac Disease 0.21 0 Biomarker CTD_human 338332 CELIAC5 Celiac disease, susceptibility to, 5 umls:C0007570 Celiac Disease 0.21 0 Biomarker CTD_human 100188846 CELIAC6 Celiac disease, susceptibility to, 6 umls:C0007570 Celiac Disease 0.21 0 Biomarker CTD_human 100301522 CELIAC7 Celiac disease, susceptibility to, 7 umls:C0007570 Celiac Disease 0.21 0 Biomarker CTD_human 100188870 CELIAC8 Celiac disease, susceptibility to, 8 umls:C0007570 Celiac Disease 0.21 0 Biomarker CTD_human 100188871 CELIAC9 Celiac disease, susceptibility to, 9 umls:C0007570 Celiac Disease 0.21 0 Biomarker CTD_human 1952 CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 umls:C0014173 Endometrial Hyperplasia 0.21 1 Biomarker CTD_human 1058 CENPA centromere protein A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1061 CENPCP1 centromere protein C pseudogene 1 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 1063 CENPF centromere protein F, 350/400kDa umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55839 CENPN centromere protein N umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 22995 CEP152 centrosomal protein 152kDa umls:C1858516 Microcephaly, Primary Autosomal Recessive, 4 0.21 0 Biomarker CTD_human 11190 CEP250 centrosomal protein 250kDa umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 95681 CEP41 centrosomal protein 41kDa umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 55165 CEP55 centrosomal protein 55kDa umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55165 CEP55 centrosomal protein 55kDa umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 80254 CEP63 centrosomal protein 63kDa umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 253782 CERS6 ceramide synthase 6 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1066 CES1 carboxylesterase 1 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 1066 CES1 carboxylesterase 1 umls:C0236736 Cocaine-Related Disorders 0.21 2 Therapeutic CTD_human 1066 CES1 carboxylesterase 1 umls:C0020443 Hypercholesterolemia 0.21 1 Therapeutic CTD_human 1066 CES1 carboxylesterase 1 umls:C0024121 Lung Neoplasms 0.21 2 Biomarker CTD_human 1066 CES1 carboxylesterase 1 umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 1066 CES1 carboxylesterase 1 umls:C0027412 Opioid-Related Disorders 0.21 1 Therapeutic CTD_human 1066 CES1 carboxylesterase 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8824 CES2 carboxylesterase 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Therapeutic CTD_human 8824 CES2 carboxylesterase 2 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 8824 CES2 carboxylesterase 2 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 23491 CES3 carboxylesterase 3 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 23491 CES3 carboxylesterase 3 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 1071 CETP cholesteryl ester transfer protein, plasma umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 629 CFB complement factor B umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 629 CFB complement factor B umls:C1864205 Macular Degeneration, Age-Related, 1 0.21 0 Biomarker CTD_human 629 CFB complement factor B umls:C0026896 Myasthenia Gravis 0.21 1 Biomarker CTD_human 55997 CFC1 cripto, FRL-1, cryptic family 1 umls:C1857586 Conotruncal cardiac defects 0.21 0 Biomarker CTD_human 1675 CFD complement factor D (adipsin) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1675 CFD complement factor D (adipsin) umls:C0017658 Glomerulonephritis 0.21 1 Biomarker CTD_human 1675 CFD complement factor D (adipsin) umls:C0021051 Immunologic Deficiency Syndromes 0.21 2 Biomarker CTD_human 1675 CFD complement factor D (adipsin) umls:C0085396 Neisseriaceae Infections 0.21 1 Biomarker CTD_human 1675 CFD complement factor D (adipsin) umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 3075 CFH complement factor H umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 3078 CFHR1 complement factor H-related 1 umls:C1864205 Macular Degeneration, Age-Related, 1 0.21 0 Biomarker CTD_human 10878 CFHR3 complement factor H-related 3 umls:C1864205 Macular Degeneration, Age-Related, 1 0.21 0 Biomarker CTD_human 1072 CFL1 cofilin 1 (non-muscle) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 1072 CFL1 cofilin 1 (non-muscle) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 1072 CFL1 cofilin 1 (non-muscle) umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 10167 CFM1 cystic fibrosis modifier 1 umls:C1859047 CYSTIC FIBROSIS, MODIFIER OF, 1 0.21 0 Biomarker CTD_human 5199 CFP complement factor properdin umls:C0025294 Meningitis, Meningococcal 0.21 2 Biomarker CTD_human 100188773 CFSS craniofacioskeletal syndrome umls:C2678036 Craniofacioskeletal Syndrome 0.21 0 Biomarker CTD_human 100188765 CFTDX Myopathy, congenital, with fiber-type disproportion, X-linked umls:C2749128 Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked 0.21 0 Biomarker CTD_human 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C2749757 Bronchiectasis With Or Without Elevated Sweat Chloride 1 0.21 0 Biomarker CTD_human 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0019284 Hernia, Diaphragmatic 0.21 1 Therapeutic CTD_human 1080 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1081 CGA glycoprotein hormones, alpha polypeptide umls:C0001621 Adrenal Gland Diseases 0.21 1 Therapeutic CTD_human 1081 CGA glycoprotein hormones, alpha polypeptide umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1081 CGA glycoprotein hormones, alpha polypeptide umls:C0018991 Hemiplegia 0.21 1 Biomarker CTD_human 1081 CGA glycoprotein hormones, alpha polypeptide umls:C0028960 Oligospermia 0.21 1 Therapeutic CTD_human 1081 CGA glycoprotein hormones, alpha polypeptide umls:C0029928 Ovarian Diseases 0.21 1 Therapeutic CTD_human 1081 CGA glycoprotein hormones, alpha polypeptide umls:C2931367 Thyroid cancer, follicular 0.21 1 Biomarker CTD_human 1081 CGA glycoprotein hormones, alpha polypeptide umls:C0042131 Uterine Diseases 0.21 1 Therapeutic CTD_human 1082 CGB chorionic gonadotropin, beta polypeptide umls:C0015951 Fetal Resorption 0.21 1 Therapeutic CTD_human 1082 CGB chorionic gonadotropin, beta polypeptide umls:C0020619 Hypogonadism 0.21 2 Therapeutic CTD_human 1083 CGF1 cognitive function 1, social umls:C1848140 COGNITIVE FUNCTION 1, SOCIAL 0.21 0 Biomarker CTD_human 10036 CHAF1A chromatin assembly factor 1, subunit A (p150) umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 8208 CHAF1B chromatin assembly factor 1, subunit B (p60) umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 1103 CHAT choline O-acetyltransferase umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 54927 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 9557 CHD1L chromodomain helicase DNA binding protein 1-like umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1108 CHD4 chromodomain helicase DNA binding protein 4 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 1108 CHD4 chromodomain helicase DNA binding protein 4 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 26038 CHD5 chromodomain helicase DNA binding protein 5 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 84181 CHD6 chromodomain helicase DNA binding protein 6 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 55636 CHD7 chromodomain helicase DNA binding protein 7 umls:C0342384 Idiopathic Hypogonadotropic Hypogonadism 0.21 0 Biomarker CTD_human 57680 CHD8 chromodomain helicase DNA binding protein 8 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 57680 CHD8 chromodomain helicase DNA binding protein 8 umls:C0017178 Gastrointestinal Diseases 0.21 1 Biomarker CTD_human 57680 CHD8 chromodomain helicase DNA binding protein 8 umls:C0221355 Megalencephaly 0.21 1 Biomarker CTD_human 121775 CHDM Chordoma umls:C0008487 Chordoma 0.21 0 Biomarker CTD_human 338334 CHDS1 Coronary heart disease, susceptibility to, 1 umls:C0010068 Coronary Disease 0.21 0 Biomarker CTD_human 387584 CHDS2 Coronary heart disease, susceptibility to, 2 umls:C0010068 Coronary Disease 0.21 0 Biomarker CTD_human 387573 CHDS3 Coronary heart disease, susceptibility to, 3 umls:C0010068 Coronary Disease 0.21 0 Biomarker CTD_human 387585 CHDS4 Coronary heart disease, susceptibility to, 4 umls:C0010068 Coronary Disease 0.21 0 Biomarker CTD_human 100188836 CHDS8 Coronary heart disease, susceptibility to, 8 umls:C0010068 Coronary Disease 0.21 0 Biomarker CTD_human 100188877 CHDS9 Coronary heart disease, suscpetibility to, 9 umls:C0010068 Coronary Disease 0.21 0 Biomarker CTD_human 1111 CHEK1 checkpoint kinase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1111 CHEK1 checkpoint kinase 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 11200 CHEK2 checkpoint kinase 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 11200 CHEK2 checkpoint kinase 2 umls:C0206720 Neoplasms, Squamous Cell 0.21 1 Biomarker CTD_human 55743 CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 27159 CHIA chitinase, acidic umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 26511 CHIC2 cysteine-rich hydrophobic domain 2 umls:C0023467 Leukemia, Myeloid, Acute 0.21 0 Biomarker CTD_human 25978 CHMP2B charged multivesicular body protein 2B umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 92421 CHMP4C charged multivesicular body protein 4C umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 780925 CHMRQ Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion umls:C2750234 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 0.21 0 Biomarker CTD_human 1124 CHN2 chimerin 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 1124 CHN2 chimerin 2 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 56994 CHPT1 choline phosphotransferase 1 umls:C0035222 Respiratory Distress Syndrome, Adult 0.21 1 Biomarker CTD_human 1128 CHRM1 cholinergic receptor, muscarinic 1 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 1128 CHRM1 cholinergic receptor, muscarinic 1 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 1128 CHRM1 cholinergic receptor, muscarinic 1 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 1128 CHRM1 cholinergic receptor, muscarinic 1 umls:C0036572 Seizures 0.21 5 Biomarker CTD_human 1129 CHRM2 cholinergic receptor, muscarinic 2 umls:C0428977 Bradycardia 0.21 1 Biomarker CTD_human 1129 CHRM2 cholinergic receptor, muscarinic 2 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 1129 CHRM2 cholinergic receptor, muscarinic 2 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 1129 CHRM2 cholinergic receptor, muscarinic 2 umls:C0011854 Diabetes Mellitus, Type 1 0.21 1 Biomarker CTD_human 1129 CHRM2 cholinergic receptor, muscarinic 2 umls:C0011882 Diabetic Neuropathies 0.21 1 Therapeutic CTD_human 1129 CHRM2 cholinergic receptor, muscarinic 2 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 1129 CHRM2 cholinergic receptor, muscarinic 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1131 CHRM3 cholinergic receptor, muscarinic 3 umls:C0003962 Ascites 0.21 1 Biomarker CTD_human 1131 CHRM3 cholinergic receptor, muscarinic 3 umls:C0010417 Cryptorchidism 0.21 1 Biomarker CTD_human 1131 CHRM3 cholinergic receptor, muscarinic 3 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 1131 CHRM3 cholinergic receptor, muscarinic 3 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 1132 CHRM4 cholinergic receptor, muscarinic 4 umls:C0007398 Catatonia 0.21 1 Therapeutic CTD_human 1132 CHRM4 cholinergic receptor, muscarinic 4 umls:C0040822 Tremor 0.21 1 Biomarker CTD_human 1133 CHRM5 cholinergic receptor, muscarinic 5 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 1133 CHRM5 cholinergic receptor, muscarinic 5 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 1134 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 1134 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) umls:C2931107 Myasthenic syndrome, congenital, postsynaptic slow-channel 0.21 0 Biomarker CTD_human 1136 CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 2 Biomarker CTD_human 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C0013421 Dystonia 0.21 1 Biomarker CTD_human 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C0851578 Sleep Disorders 0.21 1 Biomarker CTD_human 1137 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 1138 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 1138 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) umls:C0036572 Seizures 0.21 2 Biomarker CTD_human 1138 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 1138 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 1 Biomarker CTD_human 8973 CHRNA6 cholinergic receptor, nicotinic, alpha 6 (neuronal) umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 8973 CHRNA6 cholinergic receptor, nicotinic, alpha 6 (neuronal) umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 1 Biomarker CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0004310 Auditory Perceptual Disorders 0.21 1 Therapeutic CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C1306503 Hernia, Umbilical 0.21 1 Biomarker CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0025261 Memory Disorders 0.21 1 Therapeutic CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0525041 Neurobehavioral Manifestations 0.21 1 Biomarker CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0037917 Spina Bifida Cystica 0.21 1 Biomarker CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 1139 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) umls:C0038644 Sudden Infant Death 0.21 1 Biomarker CTD_human 1140 CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) umls:C2931107 Myasthenic syndrome, congenital, postsynaptic slow-channel 0.21 0 Biomarker CTD_human 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0034933 Reflex, Abnormal 0.21 1 Therapeutic CTD_human 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0851578 Sleep Disorders 0.21 1 Biomarker CTD_human 1141 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) umls:C0038644 Sudden Infant Death 0.21 1 Biomarker CTD_human 1142 CHRNB3 cholinergic receptor, nicotinic, beta 3 (neuronal) umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 1 Biomarker CTD_human 1143 CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal) umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 1143 CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal) umls:C0036572 Seizures 0.21 2 Biomarker CTD_human 1143 CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal) umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 1144 CHRND cholinergic receptor, nicotinic, delta (muscle) umls:C2931107 Myasthenic syndrome, congenital, postsynaptic slow-channel 0.21 0 Biomarker CTD_human 1144 CHRND cholinergic receptor, nicotinic, delta (muscle) umls:C0522224 Paralysis 0.21 1 Biomarker CTD_human 1145 CHRNE cholinergic receptor, nicotinic, epsilon (muscle) umls:C2931107 Myasthenic syndrome, congenital, postsynaptic slow-channel 0.21 0 Biomarker CTD_human 1146 CHRNG cholinergic receptor, nicotinic, gamma (muscle) umls:C0003886 Arthrogryposis 0.21 2 Biomarker CTD_human 1146 CHRNG cholinergic receptor, nicotinic, gamma (muscle) umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 1146 CHRNG cholinergic receptor, nicotinic, gamma (muscle) umls:C0751882 Myasthenic Syndromes, Congenital 0.21 1 Biomarker CTD_human 113189 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 113189 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 umls:C0022410 Joint Instability 0.21 1 Biomarker CTD_human 113189 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 umls:C0026827 Muscle Hypotonia 0.21 1 Biomarker CTD_human 9435 CHST2 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23563 CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1147 CHUK conserved helix-loop-helix ubiquitous kinase umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 1147 CHUK conserved helix-loop-helix ubiquitous kinase umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 1147 CHUK conserved helix-loop-helix ubiquitous kinase umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 1147 CHUK conserved helix-loop-helix ubiquitous kinase umls:C0015929 Fetal Diseases 0.21 4 Biomarker CTD_human 1147 CHUK conserved helix-loop-helix ubiquitous kinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1147 CHUK conserved helix-loop-helix ubiquitous kinase umls:C0206762 Limb Deformities, Congenital 0.21 4 Biomarker CTD_human 1147 CHUK conserved helix-loop-helix ubiquitous kinase umls:C0037268 Skin Abnormalities 0.21 3 Biomarker CTD_human 23152 CIC capicua transcriptional repressor umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 23152 CIC capicua transcriptional repressor umls:C0087012 Spinocerebellar Ataxias 0.21 1 Biomarker CTD_human 1149 CIDEA cell death-inducing DFFA-like effector a umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 63924 CIDEC cell death-inducing DFFA-like effector c umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 100381207 CIHL hearing loss, cisplatin-induced, susceptibility to umls:C2750088 HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 408257 CILD4 Ciliary dyskinesia, primary, 4 umls:C1837616 Primary ciliary dyskinesia, 4 0.21 0 Biomarker CTD_human 100190786 CILD8 Ciliary dyskinesia, primary, 8 umls:C2677085 Ciliary Dyskinesia, Primary, 8 0.21 0 Biomarker CTD_human 8483 CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase umls:C0158252 Intervertebral disc disease 0.21 0 Biomarker CTD_human 404677 CIMT Carotid intimal medial thickness umls:C1838020 CAROTID INTIMAL MEDIAL THICKNESS 2 0.21 0 Biomarker CTD_human 1153 CIRBP cold inducible RNA binding protein umls:C0751865 Alcohol-Induced Disorders, Nervous System 0.21 1 Biomarker CTD_human 1153 CIRBP cold inducible RNA binding protein umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 1153 CIRBP cold inducible RNA binding protein umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 1153 CIRBP cold inducible RNA binding protein umls:C0600467 Neurogenic Inflammation 0.21 1 Biomarker CTD_human 1154 CISH cytokine inducible SH2-containing protein umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 1154 CISH cytokine inducible SH2-containing protein umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 10370 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 1152 CKB creatine kinase, brain umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 1152 CKB creatine kinase, brain umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 1152 CKB creatine kinase, brain umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 1152 CKB creatine kinase, brain umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1158 CKM creatine kinase, muscle umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 1158 CKM creatine kinase, muscle umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 1158 CKM creatine kinase, muscle umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 1158 CKM creatine kinase, muscle umls:C0022116 Ischemia 0.21 1 Biomarker CTD_human 1158 CKM creatine kinase, muscle umls:C0027051 Myocardial Infarction 0.21 2 Biomarker CTD_human 1158 CKM creatine kinase, muscle umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1164 CKS2 CDC28 protein kinase regulatory subunit 2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1167 CLA3 cerebellar ataxia 3 (cerebellar parenchyma disorder 1) umls:C1842676 Spinocerebellar ataxia, autosomal recessive 6 0.21 0 Biomarker CTD_human 373073 CLAM cerebellar atrophy with progressive microcephaly umls:C1842687 Pontocerebellar Hypoplasia Type 3 0.21 0 Biomarker CTD_human 23529 CLCF1 cardiotrophin-like cytokine factor 1 umls:C1848947 Cold-Induced Sweating Syndrome 1 0.21 0 Biomarker CTD_human 1182 CLCN3 chloride channel, voltage-sensitive 3 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1182 CLCN3 chloride channel, voltage-sensitive 3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1184 CLCN5 chloride channel, voltage-sensitive 5 umls:C0018021 Goiter 0.21 1 Biomarker CTD_human 1184 CLCN5 chloride channel, voltage-sensitive 5 umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 1187 CLCNKA chloride channel, voltage-sensitive Ka umls:C1865270 Bartter Syndrome, Type 4A 0.21 0 Biomarker CTD_human 1188 CLCNKB chloride channel, voltage-sensitive Kb umls:C1865270 Bartter Syndrome, Type 4A 0.21 0 Biomarker CTD_human 9076 CLDN1 claudin 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1365 CLDN3 claudin 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1364 CLDN4 claudin 4 umls:C1134719 Carcinoma, Ductal, Breast 0.21 1 Biomarker CTD_human 1364 CLDN4 claudin 4 umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 1364 CLDN4 claudin 4 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 9080 CLDN9 claudin 9 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10462 CLEC10A C-type lectin domain family 10, member A umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 338339 CLEC4D C-type lectin domain family 4, member D umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 26253 CLEC4E C-type lectin domain family 4, member E umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 26253 CLEC4E C-type lectin domain family 4, member E umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 64581 CLEC7A C-type lectin domain family 7, member A umls:C1859353 Candidiasis familial chronic mucocutaneous, autosomal recessive 0.21 0 Biomarker CTD_human 1192 CLIC1 chloride intracellular channel 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 1192 CLIC1 chloride intracellular channel 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 1192 CLIC1 chloride intracellular channel 1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 1192 CLIC1 chloride intracellular channel 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 1192 CLIC1 chloride intracellular channel 1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 25932 CLIC4 chloride intracellular channel 4 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 25932 CLIC4 chloride intracellular channel 4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 25932 CLIC4 chloride intracellular channel 4 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 100188791 CLLS1 Leukemia, chronic lymphocytic, susceptibility to, 1 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21 0 Biomarker CTD_human 100270642 CLLS3 Leukemia, chronic lymphocytic, susceptibility to, 3 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21 0 Biomarker CTD_human 100270643 CLLS4 Leukemia, chronic lymphocytic susceptibility to, 4 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21 0 Biomarker CTD_human 100270644 CLLS5 Leukemia, chronic lymphocytic susceptiblity to, 5 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21 0 Biomarker CTD_human 1201 CLN3 ceroid-lipofuscinosis, neuronal 3 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1201 CLN3 ceroid-lipofuscinosis, neuronal 3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 497231 CLN9 ceroid-lipofuscinosis, neuronal 9 umls:C1836841 Ceroid lipofuscinosis, neuronal 9 0.21 0 Biomarker CTD_human 116449 CLNK cytokine-dependent hematopoietic cell linker umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 1207 CLNS1A chloride channel, nucleotide-sensitive, 1A umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 81037 CLPTM1L CLPTM1-like umls:C0023448 Leukemia, Lymphoid 0.21 1 Biomarker CTD_human 81037 CLPTM1L CLPTM1-like umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 81037 CLPTM1L CLPTM1-like umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 54501 CLQTL1 cholesterol-lowering factor umls:C1858233 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 0.21 0 Biomarker CTD_human 64084 CLSTN2 calsyntenin 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 1191 CLU clusterin umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 1191 CLU clusterin umls:C0333641 Atrophy 0.21 1 Biomarker CTD_human 1191 CLU clusterin umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 1191 CLU clusterin umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 1191 CLU clusterin umls:C0022658 Kidney Diseases 0.21 3 Biomarker CTD_human 1191 CLU clusterin umls:C0027686 Neovascularization, Pathologic 0.21 1 Therapeutic CTD_human 1191 CLU clusterin umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 27098 CLUL1 clusterin-like 1 (retinal) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 246230 CMAL Capillary malformations, hereditary umls:C2931029 Nevi flammei, familial multiple 0.21 0 Biomarker CTD_human 56942 CMC2 C-x(9)-C motif containing 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 23459 CMD1H cardiomyopathy, dilated 1H (autosomal dominant) umls:C2931157 Idiopathic dilation cardiomyopathy 0.21 0 Biomarker CTD_human 65014 CMD1K cardiomyopathy, dilated 1K (autosomal dominant) umls:C1854159 Cardiomyopathy, Dilated, 1K 0.21 0 Biomarker CTD_human 664728 CMD1Q cardiomyopathy, dilated 1Q (autosomal dominant) umls:C1835926 Cardiomyopathy, Dilated, 1q 0.21 0 Biomarker CTD_human 1243 CMM cutaneous malignant melanoma/dysplastic nevus umls:C1835047 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 474388 CMM4 Melanoma, cutaneous malignant, 4 umls:C1835047 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 474388 CMM4 Melanoma, cutaneous malignant, 4 umls:C1842643 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 0.21 0 Biomarker CTD_human 100190932 CMM7 Melanoma, cutaneous malignant, susceptibility to, 7 umls:C2677089 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 0.21 0 Biomarker CTD_human 51727 CMPK1 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8144 CMS1A1 myasthenia gravis, familial infantile, 1 umls:C1853949 Myasthenia, Familial Infantile, 1 0.21 0 Biomarker CTD_human 431712 CMT2G Charcot-Marie-Tooth disease, axonal, type 2G umls:C1837805 Charcot-Marie-Tooth disease, Type 2G 0.21 0 Biomarker CTD_human 619496 CMT2H Charcot-Marie-Tooth disease, axonal, type 2H umls:C1843173 Charcot-Marie-Tooth disease, Type 2H 0.21 0 Biomarker CTD_human 387574 CMTDIA Charcot-Marie-Tooth disease, dominant intermediate 2 umls:C1847896 Charcot-Marie-Tooth Disease, Dominant Intermediate A 0.21 0 Biomarker CTD_human 55783 CMTR2 cap methyltransferase 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 55783 CMTR2 cap methyltransferase 2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1253 CMTX2 Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) umls:C1844873 Charcot-Marie-Tooth disease, X-linked recessive, 2 0.21 0 Biomarker CTD_human 1254 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) umls:C1844865 Charcot-Marie-Tooth disease, X-linked recessive, 3 0.21 0 Biomarker CTD_human 1255 CNA1 cornea plana 1 (autosomal dominant) umls:C1852557 Cornea Plana 1 0.21 0 Biomarker CTD_human 8231 CND Corneal dermoids umls:C1844671 Dermoids of cornea 0.21 0 Biomarker CTD_human 84735 CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) umls:C0268632 Homocarnosinosis 0.21 1 Biomarker CTD_human 84735 CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) umls:C3714756 Intellectual Disability 0.21 2 Biomarker CTD_human 84735 CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) umls:C0027854 Neurologic Manifestations 0.21 1 Biomarker CTD_human 149111 CNIH3 cornichon family AMPA receptor auxiliary protein 3 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 10256 CNKSR1 connector enhancer of kinase suppressor of Ras 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 1265 CNN2 calponin 2 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 1266 CNN3 calponin 3, acidic umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 1266 CNN3 calponin 3, acidic umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1266 CNN3 calponin 3, acidic umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1266 CNN3 calponin 3, acidic umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 26507 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 10330 CNPY2 canopy FGF signaling regulator 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 10330 CNPY2 canopy FGF signaling regulator 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0007370 Catalepsy 0.21 1 Biomarker CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Therapeutic CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0020429 Hyperalgesia 0.21 1 Therapeutic CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0026650 Movement Disorders 0.21 1 Therapeutic CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0026838 Muscle Spasticity 0.21 1 Biomarker CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0027746 Nerve Degeneration 0.21 2 Biomarker, Therapeutic CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0030305 Pancreatitis 0.21 1 Biomarker CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 1268 CNR1 cannabinoid receptor 1 (brain) umls:C0236969 Substance-Related Disorders 0.21 3 Biomarker CTD_human 1269 CNR2 cannabinoid receptor 2 (macrophage) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 1269 CNR2 cannabinoid receptor 2 (macrophage) umls:C0021053 Immune System Diseases 0.21 1 Biomarker CTD_human 1269 CNR2 cannabinoid receptor 2 (macrophage) umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 8173 CNSN Carnosinemia (carnosinase) umls:C0268632 Homocarnosinosis 0.21 0 Biomarker CTD_human 163882 CNST consortin, connexin sorting protein umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 1270 CNTF ciliary neurotrophic factor umls:C2937358 Cerebral Hemorrhage 0.21 1 Therapeutic CTD_human 1270 CNTF ciliary neurotrophic factor umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 5067 CNTN3 contactin 3 (plasmacytoma associated) umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 5067 CNTN3 contactin 3 (plasmacytoma associated) umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 152330 CNTN4 contactin 4 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 152330 CNTN4 contactin 4 umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 152330 CNTN4 contactin 4 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 27255 CNTN6 contactin 6 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 26047 CNTNAP2 contactin associated protein-like 2 umls:C0008074 Child Development Disorders, Pervasive 0.21 4 Biomarker CTD_human 26047 CNTNAP2 contactin associated protein-like 2 umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 26047 CNTNAP2 contactin associated protein-like 2 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 116840 CNTROB centrobin, centrosomal BRCA2 interacting protein umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 23242 COBL cordon-bleu WH2 repeat protein umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1275 COD2 cone dystrophy 2 (X-linked) umls:C1848139 Cone-Rod Dystrophy, X-Linked, 2 0.21 0 Biomarker CTD_human 100188845 CODA Cavitary optic disc anomalies umls:C1969063 Cavitary Optic Disc Anomalies 0.21 0 Biomarker CTD_human 9382 COG1 component of oligomeric golgi complex 1 umls:C2931011 Congenital disorder of glycosylation, type 2G 0.21 0 Biomarker CTD_human 25839 COG4 component of oligomeric golgi complex 4 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 91949 COG7 component of oligomeric golgi complex 7 umls:C2931010 Congenital disorder of glycosylation type 2E 0.21 0 Biomarker CTD_human 1301 COL11A1 collagen, type XI, alpha 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1301 COL11A1 collagen, type XI, alpha 1 umls:C0158252 Intervertebral disc disease 0.21 0 Biomarker CTD_human 1301 COL11A1 collagen, type XI, alpha 1 umls:C0029422 Osteochondrodysplasias 0.21 1 Biomarker CTD_human 1301 COL11A1 collagen, type XI, alpha 1 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 1302 COL11A2 collagen, type XI, alpha 2 umls:C0007302 Cartilage Diseases 0.21 1 Biomarker CTD_human 1302 COL11A2 collagen, type XI, alpha 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1302 COL11A2 collagen, type XI, alpha 2 umls:C0018784 Hearing Loss, Sensorineural 0.21 1 Biomarker CTD_human 1302 COL11A2 collagen, type XI, alpha 2 umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 1305 COL13A1 collagen, type XIII, alpha 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 80781 COL18A1 collagen, type XVIII, alpha 1 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 80781 COL18A1 collagen, type XVIII, alpha 1 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 80781 COL18A1 collagen, type XVIII, alpha 1 umls:C0018923 Hemangiosarcoma 0.21 1 Biomarker CTD_human 80781 COL18A1 collagen, type XVIII, alpha 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0002949 Aneurysm, Dissecting 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0003504 Aortic Valve Insufficiency 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0268345 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant 0.21 0 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C1619692 Nephrogenic Fibrosing Dermopathy 0.21 1 Biomarker CTD_human 1277 COL1A1 collagen, type I, alpha 1 umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 1278 COL1A2 collagen, type I, alpha 2 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1278 COL1A2 collagen, type I, alpha 2 umls:C0268345 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant 0.21 0 Biomarker CTD_human 1278 COL1A2 collagen, type I, alpha 2 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 1278 COL1A2 collagen, type I, alpha 2 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 81578 COL21A1 collagen, type XXI, alpha 1 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 81578 COL21A1 collagen, type XXI, alpha 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 169044 COL22A1 collagen, type XXII, alpha 1 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 91522 COL23A1 collagen, type XXIII, alpha 1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 340267 COL28A1 collagen, type XXVIII, alpha 1 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0993582 Arthritis, Experimental 0.21 3 Biomarker CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0013604 Edema 0.21 1 Biomarker CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0041834 Erythema 0.21 1 Biomarker CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0015814 Femur Head Necrosis 0.21 0 Biomarker CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 1280 COL2A1 collagen, type II, alpha 1 umls:C0265280 Spondylometaphyseal dysplasia, Kozlowski type 0.21 0 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0003504 Aortic Valve Insufficiency 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0553980 Endomyocardial Fibrosis 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0020443 Hypercholesterolemia 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0020459 Hyperinsulinism 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0023891 Liver Cirrhosis, Alcoholic 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0238288 Muscular Dystrophy, Facioscapulohumeral 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 1281 COL3A1 collagen, type III, alpha 1 umls:C0041956 Ureteral Obstruction 0.21 1 Biomarker CTD_human 1282 COL4A1 collagen, type IV, alpha 1 umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 2 Biomarker CTD_human 1282 COL4A1 collagen, type IV, alpha 1 umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 1284 COL4A2 collagen, type IV, alpha 2 umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 1284 COL4A2 collagen, type IV, alpha 2 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 1285 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) umls:C2931254 Alport syndrome, recessive type 0.21 0 Biomarker CTD_human 10087 COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 1286 COL4A4 collagen, type IV, alpha 4 umls:C2931254 Alport syndrome, recessive type 0.21 0 Biomarker CTD_human 1287 COL4A5 collagen, type IV, alpha 5 umls:C0086533 Leiomyoma, Epithelioid 0.21 1 Biomarker CTD_human 1288 COL4A6 collagen, type IV, alpha 6 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1288 COL4A6 collagen, type IV, alpha 6 umls:C0086533 Leiomyoma, Epithelioid 0.21 1 Biomarker CTD_human 1289 COL5A1 collagen, type V, alpha 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1289 COL5A1 collagen, type V, alpha 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 1289 COL5A1 collagen, type V, alpha 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 1289 COL5A1 collagen, type V, alpha 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1289 COL5A1 collagen, type V, alpha 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1290 COL5A2 collagen, type V, alpha 2 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1291 COL6A1 collagen, type VI, alpha 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1291 COL6A1 collagen, type VI, alpha 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 1292 COL6A2 collagen, type VI, alpha 2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 1293 COL6A3 collagen, type VI, alpha 3 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1294 COL7A1 collagen, type VII, alpha 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 1294 COL7A1 collagen, type VII, alpha 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 1295 COL8A1 collagen, type VIII, alpha 1 umls:C0000768 Congenital Abnormalities 0.21 1 Biomarker CTD_human 1297 COL9A1 collagen, type IX, alpha 1 umls:C0018784 Hearing Loss, Sensorineural 0.21 1 Biomarker CTD_human 1297 COL9A1 collagen, type IX, alpha 1 umls:C0027092 Myopia 0.21 1 Biomarker CTD_human 1297 COL9A1 collagen, type IX, alpha 1 umls:C0035309 Retinal Diseases 0.21 1 Biomarker CTD_human 1298 COL9A2 collagen, type IX, alpha 2 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1299 COL9A3 collagen, type IX, alpha 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 78989 COLEC11 collectin sub-family member 11 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 78989 COLEC11 collectin sub-family member 11 umls:C0796032 Malpuech facial clefting syndrome 0.21 1 Biomarker CTD_human 78989 COLEC11 collectin sub-family member 11 umls:C0796059 Oculopalatoskeletal syndrome 0.21 1 Biomarker CTD_human 78989 COLEC11 collectin sub-family member 11 umls:C0549567 Pigmentation Disorders 0.21 1 Biomarker CTD_human 81035 COLEC12 collectin sub-family member 12 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 266710 COMA Cogan-type congential oculomotor apraxia umls:C0543874 Apraxia, oculomotor, Cogan type 0.21 0 Biomarker CTD_human 150684 COMMD1 copper metabolism (Murr1) domain containing 1 umls:C0012979 Dog Diseases 0.21 1 Biomarker CTD_human 150684 COMMD1 copper metabolism (Murr1) domain containing 1 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 1311 COMP cartilage oligomeric matrix protein umls:C0022410 Joint Instability 0.21 1 Biomarker CTD_human 1312 COMT catechol-O-methyltransferase umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 1312 COMT catechol-O-methyltransferase umls:C2750088 HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO 0.21 1 Biomarker CTD_human 1312 COMT catechol-O-methyltransferase umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 26958 COPG2 coatomer protein complex, subunit gamma 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 9318 COPS2 COP9 signalosome subunit 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 10980 COPS6 COP9 signalosome subunit 6 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 50813 COPS7A COP9 signalosome subunit 7A umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 50813 COPS7A COP9 signalosome subunit 7A umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 84274 COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 57017 COQ9 coenzyme Q9 umls:C3551954 COENZYME Q10 DEFICIENCY, PRIMARY, 1 0.21 0 Biomarker CTD_human 54109 CORD8 cone rod dystrophy 8 umls:C1854180 Cone-Rod Dystrophy 8 0.21 0 Biomarker CTD_human 11151 CORO1A coronin, actin binding protein, 1A umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 23603 CORO1C coronin, actin binding protein, 1C umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 23603 CORO1C coronin, actin binding protein, 1C umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23406 COTL1 coactosin-like F-actin binding protein 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 4512 COX1 cytochrome c oxidase subunit I umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 4512 COX1 cytochrome c oxidase subunit I umls:C0020564 Hypertrophy 0.21 1 Therapeutic CTD_human 4512 COX1 cytochrome c oxidase subunit I umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 4512 COX1 cytochrome c oxidase subunit I umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4513 COX2 cytochrome c oxidase subunit II umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 4514 COX3 cytochrome c oxidase III umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 1329 COX5B cytochrome c oxidase subunit Vb umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 1350 COX7C cytochrome c oxidase subunit VIIc umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0004134 Ataxia 0.21 1 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0011156 Deficiency Diseases 0.21 1 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0497327 Dementia 0.21 1 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0013384 Dyskinesias 0.21 1 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C2931082 Familial apoceruloplasmin deficiency 0.21 2 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0085397 Pasteurellaceae Infections 0.21 1 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0033860 Psoriasis 0.21 1 Biomarker CTD_human 1356 CP ceruloplasmin (ferroxidase) umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 1358 CPA2 carboxypeptidase A2 (pancreatic) umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 27151 CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 1361 CPB2 carboxypeptidase B2 (plasma) umls:C0002453 Amenorrhea 0.21 1 Biomarker CTD_human 1361 CPB2 carboxypeptidase B2 (plasma) umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 1363 CPE carboxypeptidase E umls:C0014130 Endocrine System Diseases 0.21 1 Biomarker CTD_human 1363 CPE carboxypeptidase E umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 10815 CPLX1 complexin 1 umls:C0033975 Psychotic Disorders 0.21 1 Biomarker CTD_human 10814 CPLX2 complexin 2 umls:C0033975 Psychotic Disorders 0.21 1 Biomarker CTD_human 1368 CPM carboxypeptidase M umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1371 CPOX coproporphyrinogen oxidase umls:C0162566 Porphyria Cutanea Tarda 0.21 1 Biomarker CTD_human 10404 CPQ carboxypeptidase Q umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 1373 CPS1 carbamoyl-phosphate synthase 1, mitochondrial umls:C2677362 Alveolar capillary dysplasia 0.21 0 Biomarker CTD_human 1373 CPS1 carbamoyl-phosphate synthase 1, mitochondrial umls:C0376618 Endotoxemia 0.21 1 Biomarker CTD_human 1373 CPS1 carbamoyl-phosphate synthase 1, mitochondrial umls:C0031190 Persistent Fetal Circulation Syndrome 0.21 1 Biomarker CTD_human 1373 CPS1 carbamoyl-phosphate synthase 1, mitochondrial umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 29894 CPSF1 cleavage and polyadenylation specific factor 1, 160kDa umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 29894 CPSF1 cleavage and polyadenylation specific factor 1, 160kDa umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 11052 CPSF6 cleavage and polyadenylation specific factor 6, 68kDa umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1374 CPT1A carnitine palmitoyltransferase 1A (liver) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 1374 CPT1A carnitine palmitoyltransferase 1A (liver) umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 1374 CPT1A carnitine palmitoyltransferase 1A (liver) umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 1375 CPT1B carnitine palmitoyltransferase 1B (muscle) umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 1375 CPT1B carnitine palmitoyltransferase 1B (muscle) umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 1375 CPT1B carnitine palmitoyltransferase 1B (muscle) umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 1375 CPT1B carnitine palmitoyltransferase 1B (muscle) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 126129 CPT1C carnitine palmitoyltransferase 1C umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 126129 CPT1C carnitine palmitoyltransferase 1C umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1376 CPT2 carnitine palmitoyltransferase 2 umls:C0006112 Brain Diseases, Metabolic 0.21 1 Biomarker CTD_human 1381 CRABP1 cellular retinoic acid binding protein 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 1381 CRABP1 cellular retinoic acid binding protein 1 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 1382 CRABP2 cellular retinoic acid binding protein 2 umls:C0268583 Methylmalonic acidemia 0.21 1 Biomarker CTD_human 1382 CRABP2 cellular retinoic acid binding protein 2 umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 8738 CRADD CASP2 and RIPK1 domain containing adaptor with death domain umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 23418 CRB1 crumbs family member 1, photoreceptor morphogenesis associated umls:C0035305 Retinal Detachment 0.21 1 Biomarker CTD_human 100271691 CRCS10 Colorectal cancer, susceptibility to, 10 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 100271692 CRCS11 Colorectal cancer, susceptibility to, 11 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 100188841 CRCS2 Colorectal cancer, susceptibility to, 2 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 100188887 CRCS5 Colorectal cancer, susceptibility to, 5 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 100187710 CRCS6 colorectal cancer, susceptibility to, 6 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 100187711 CRCS7 colorectal cancer, susceptibility to, 7 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 100271690 CRCS8 Colorectal cancer, susceptibility to, 8 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 100329169 CRCS9 colorectal cancer, susceptibility to, 9 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 1385 CREB1 cAMP responsive element binding protein 1 umls:C0236736 Cocaine-Related Disorders 0.21 3 Biomarker CTD_human 1385 CREB1 cAMP responsive element binding protein 1 umls:C0026552 Morphine Dependence 0.21 1 Biomarker CTD_human 1385 CREB1 cAMP responsive element binding protein 1 umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 1385 CREB1 cAMP responsive element binding protein 1 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 1387 CREBBP CREB binding protein umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 1387 CREBBP CREB binding protein umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 1387 CREBBP CREB binding protein umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 1387 CREBBP CREB binding protein umls:C0024301 Lymphoma, Follicular 0.21 1 Biomarker CTD_human 1387 CREBBP CREB binding protein umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 1387 CREBBP CREB binding protein umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 8804 CREG1 cellular repressor of E1A-stimulated genes 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1390 CREM cAMP responsive element modulator umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 1390 CREM cAMP responsive element modulator umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 1390 CREM cAMP responsive element modulator umls:C0020564 Hypertrophy 0.21 1 Therapeutic CTD_human 1390 CREM cAMP responsive element modulator umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0271583 ACTH Deficiency, Isolated 0.21 0 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0002170 Alopecia 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0428977 Bradycardia 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0008031 Chest Pain 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0015967 Fever 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 1392 CRH corticotropin releasing hormone umls:C0032001 Pituitary Apoplexy 0.21 2 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0033922 Psychomotor Disorders 0.21 1 Therapeutic CTD_human 1392 CRH corticotropin releasing hormone umls:C0034012 Puberty, Delayed 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0035333 Retinitis 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0037769 Spasms, Infantile 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0038273 Stereotypic Movement Disorder 0.21 1 Biomarker CTD_human 1392 CRH corticotropin releasing hormone umls:C0043096 Weight Loss 0.21 1 Biomarker CTD_human 1393 CRHBP corticotropin releasing hormone binding protein umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 1394 CRHR1 corticotropin releasing hormone receptor 1 umls:C0003123 Anorexia 0.21 1 Biomarker CTD_human 1394 CRHR1 corticotropin releasing hormone receptor 1 umls:C0011616 Dermatitis, Contact 0.21 1 Biomarker CTD_human 1394 CRHR1 corticotropin releasing hormone receptor 1 umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 1395 CRHR2 corticotropin releasing hormone receptor 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 1395 CRHR2 corticotropin releasing hormone receptor 2 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 1395 CRHR2 corticotropin releasing hormone receptor 2 umls:C0024115 Lung Diseases 0.21 1 Therapeutic CTD_human 1396 CRIP1 cysteine-rich protein 1 (intestinal) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10321 CRISP3 cysteine-rich secretory protein 3 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 83716 CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 83716 CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2 umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 83716 CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 1398 CRK v-crk avian sarcoma virus CT10 oncogene homolog umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 64109 CRLF2 cytokine receptor-like factor 2 umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 51379 CRLF3 cytokine receptor-like factor 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0020503 Hyperparathyroidism, Secondary 0.21 1 Biomarker CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0020557 Hypertriglyceridemia 0.21 1 Therapeutic CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0023281 Leishmaniasis 0.21 1 Biomarker CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0023290 Leishmaniasis, Visceral 0.21 1 Biomarker CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0027707 Nephritis, Interstitial 0.21 1 Biomarker CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0085397 Pasteurellaceae Infections 0.21 1 Biomarker CTD_human 1401 CRP C-reactive protein, pentraxin-related umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 7885 CRSA Craniosynostosis, Adelaide type umls:C1833578 Craniosynostosis, Adelaide Type 0.21 0 Biomarker CTD_human 10491 CRTAP cartilage associated protein umls:C2931095 Osteogenesis imperfecta, type 7 0.21 0 Biomarker CTD_human 23373 CRTC1 CREB regulated transcription coactivator 1 umls:C0279628 Adenocarcinoma Of Esophagus 0.21 1 Biomarker CTD_human 1407 CRY1 cryptochrome circadian clock 1 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.21 1 Biomarker CTD_human 1408 CRY2 cryptochrome circadian clock 2 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.21 1 Biomarker CTD_human 1409 CRYAA crystallin, alpha A umls:C0004364 Autoimmune Diseases 0.21 1 Biomarker CTD_human 1409 CRYAA crystallin, alpha A umls:C0042164 Uveitis 0.21 2 Biomarker CTD_human 1410 CRYAB crystallin, alpha B umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 1410 CRYAB crystallin, alpha B umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 1410 CRYAB crystallin, alpha B umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 1410 CRYAB crystallin, alpha B umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 1410 CRYAB crystallin, alpha B umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1410 CRYAB crystallin, alpha B umls:C0040411 Tongue Neoplasms 0.21 1 Biomarker CTD_human 1415 CRYBB2 crystallin, beta B2 umls:C0004364 Autoimmune Diseases 0.21 1 Biomarker CTD_human 1415 CRYBB2 crystallin, beta B2 umls:C1852438 Cataract, Coppock-Like 0.21 0 Biomarker CTD_human 1415 CRYBB2 crystallin, beta B2 umls:C0042164 Uveitis 0.21 2 Biomarker CTD_human 51084 CRYL1 crystallin, lambda 1 umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 51084 CRYL1 crystallin, lambda 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1431 CS citrate synthase umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 1431 CS citrate synthase umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 1431 CS citrate synthase umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 1431 CS citrate synthase umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 51380 CSAD cysteine sulfinic acid decarboxylase umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 1433 CSE choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity) umls:C1832855 Choreoathetosis/Spasticity, Episodic 0.21 0 Biomarker CTD_human 1436 CSF1R colony stimulating factor 1 receptor umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0002622 Amnesia 0.21 1 Therapeutic CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C2931245 Bone Marrow failure syndromes 0.21 1 Therapeutic CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Therapeutic CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0015423 Eyelid Diseases 0.21 1 Therapeutic CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0017181 Gastrointestinal Hemorrhage 0.21 1 Biomarker CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0085090 Lymphoma, AIDS-Related 0.21 2 Therapeutic CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0333355 Mucositis 0.21 1 Biomarker CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0151786 Muscle Weakness 0.21 1 Biomarker CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0027794 Neural Tube Defects 0.21 1 Therapeutic CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0030193 Pain 0.21 1 Biomarker CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0040034 Thrombocytopenia 0.21 1 Biomarker CTD_human 1437 CSF2 colony stimulating factor 2 (granulocyte-macrophage) umls:C0042487 Venous Thrombosis 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0003862 Arthralgia 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0282609 Bone Marrow Neoplasms 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C1458155 Breast Neoplasms 0.21 8 Biomarker, Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0007138 Carcinoma, Transitional Cell 0.21 2 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0007193 Cardiomyopathy, Dilated 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0011991 Diarrhea 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0012655 Disease Susceptibility 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0015967 Fever 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0016059 Fibrosis 0.21 2 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0017178 Gastrointestinal Diseases 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0018681 Headache 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0018671 Head and Neck Neoplasms 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0018799 Heart Diseases 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0018923 Hemangiosarcoma 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0019156 Hepatic Veno-Occlusive Disease 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0019829 Hodgkin Disease 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0020433 Hyperbilirubinemia 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0020564 Hypertrophy 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0021308 Infarction 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0022658 Kidney Diseases 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0023269 Leiomyosarcoma 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0023895 Liver Diseases 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0162557 Liver Failure, Acute 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0085090 Lymphoma, AIDS-Related 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0079731 Lymphoma, B-Cell 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0333355 Mucositis 0.21 2 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0151786 Muscle Weakness 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0085183 Neoplasms, Second Primary 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0032343 Poisoning 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0036420 Scleroderma, Localized 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0037286 Skin Neoplasms 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0037579 Soft Tissue Neoplasms 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0752262 Somatosensory Disorders 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0038325 Stevens-Johnson Syndrome 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0038362 Stomatitis 0.21 1 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0040034 Thrombocytopenia 0.21 2 Biomarker CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0042138 Uterine Neoplasms 0.21 1 Therapeutic CTD_human 1440 CSF3 colony stimulating factor 3 (granulocyte) umls:C0242698 Ventricular Dysfunction, Left 0.21 2 Biomarker, Therapeutic CTD_human 1441 CSF3R colony stimulating factor 3 receptor (granulocyte) umls:C0023518 Leukocytosis 0.21 1 Biomarker CTD_human 1445 CSK c-src tyrosine kinase umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 64478 CSMD1 CUB and Sushi multiple domains 1 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 64478 CSMD1 CUB and Sushi multiple domains 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 114788 CSMD3 CUB and Sushi multiple domains 3 umls:C0007134 Carcinoma, Renal Cell 0.21 2 Biomarker CTD_human 114788 CSMD3 CUB and Sushi multiple domains 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1447 CSN2 casein beta umls:C0007097 Carcinoma 0.21 2 Biomarker CTD_human 1447 CSN2 casein beta umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 1447 CSN2 casein beta umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 1448 CSN3 casein kappa umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 1448 CSN3 casein kappa umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1448 CSN3 casein kappa umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1452 CSNK1A1 casein kinase 1, alpha 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1457 CSNK2A1 casein kinase 2, alpha 1 polypeptide umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 1459 CSNK2A2 casein kinase 2, alpha prime polypeptide umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 1459 CSNK2A2 casein kinase 2, alpha prime polypeptide umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 1460 CSNK2B casein kinase 2, beta polypeptide umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 1460 CSNK2B casein kinase 2, beta polypeptide umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 64651 CSRNP1 cysteine-serine-rich nuclear protein 1 umls:C0007193 Cardiomyopathy, Dilated 0.21 1 Biomarker CTD_human 80034 CSRNP3 cysteine-serine-rich nuclear protein 3 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 80034 CSRNP3 cysteine-serine-rich nuclear protein 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1465 CSRP1 cysteine and glycine-rich protein 1 umls:C0014173 Endometrial Hyperplasia 0.21 1 Biomarker CTD_human 1465 CSRP1 cysteine and glycine-rich protein 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8048 CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1469 CST1 cystatin SN umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1469 CST1 cystatin SN umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1471 CST3 cystatin C umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 1471 CST3 cystatin C umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 1471 CST3 cystatin C umls:C0032343 Poisoning 0.21 1 Biomarker CTD_human 1471 CST3 cystatin C umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 1474 CST6 cystatin E/M umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 1474 CST6 cystatin E/M umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8530 CST7 cystatin F (leukocystatin) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 10047 CST8 cystatin 8 (cystatin-related epididymal specific) umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 1475 CSTA cystatin A (stefin A) umls:C0242656 Disease Progression 0.21 2 Biomarker CTD_human 1475 CSTA cystatin A (stefin A) umls:C0017636 Glioblastoma 0.21 1 Biomarker CTD_human 1476 CSTB cystatin B (stefin B) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 1476 CSTB cystatin B (stefin B) umls:C0017636 Glioblastoma 0.21 1 Biomarker CTD_human 1476 CSTB cystatin B (stefin B) umls:C0027626 Neoplasm Invasiveness 0.21 2 Biomarker CTD_human 1476 CSTB cystatin B (stefin B) umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 1483 CTAA1 cataract, anterior polar 1 umls:C1413785 CATARACT 32, MULTIPLE TYPES 0.21 0 Biomarker CTD_human 1484 CTAA2 cataract, anterior polar 2 umls:C1832609 Anterior polar cataract 2 0.21 0 Biomarker CTD_human 1487 CTBP1 C-terminal binding protein 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 80169 CTC1 CTS telomere maintenance complex component 1 umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 80169 CTC1 CTS telomere maintenance complex component 1 umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 80169 CTC1 CTS telomere maintenance complex component 1 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 80169 CTC1 CTS telomere maintenance complex component 1 umls:C0267211 Gastric Antral Vascular Ectasia 0.21 1 Biomarker CTD_human 10664 CTCF CCCTC-binding factor (zinc finger protein) umls:C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 0.21 1 Biomarker CTD_human 1283 CTD Coats disease umls:C0154832 Retinal Telangiectasis 0.21 0 Biomarker CTD_human 100302516 CTEPH1 Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to umls:C2748504 PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 1489 CTF1 cardiotrophin 1 umls:C0018800 Cardiomegaly 0.21 2 Biomarker CTD_human 1489 CTF1 cardiotrophin 1 umls:C0020443 Hypercholesterolemia 0.21 1 Biomarker CTD_human 1489 CTF1 cardiotrophin 1 umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 1489 CTF1 cardiotrophin 1 umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 1489 CTF1 cardiotrophin 1 umls:C0022658 Kidney Diseases 0.21 1 Therapeutic CTD_human 1489 CTF1 cardiotrophin 1 umls:C0027540 Necrosis 0.21 1 Therapeutic CTD_human 1489 CTF1 cardiotrophin 1 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 1490 CTGF connective tissue growth factor umls:C0235833 Hernias, Diaphragmatic, Congenital 0.21 2 Biomarker CTD_human 1490 CTGF connective tissue growth factor umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 1490 CTGF connective tissue growth factor umls:C0024115 Lung Diseases 0.21 2 Biomarker CTD_human 1490 CTGF connective tissue growth factor umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 1490 CTGF connective tissue growth factor umls:C0033054 Prenatal Exposure Delayed Effects 0.21 1 Biomarker CTD_human 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C1832392 Diabetes Mellitus, Insulin-Dependent, 12 0.21 0 Biomarker CTD_human 1496 CTNNA2 catenin (cadherin-associated protein), alpha 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 29119 CTNNA3 catenin (cadherin-associated protein), alpha 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C1879526 Aberrant Crypt Foci 0.21 3 Biomarker CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0007528 Cecal Neoplasms 0.21 1 Biomarker CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0018923 Hemangiosarcoma 0.21 1 Biomarker CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0023904 Liver Neoplasms, Experimental 0.21 3 Biomarker CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0026846 Muscular Atrophy 0.21 1 Therapeutic CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0232347 No-Reflow Phenomenon 0.21 1 Therapeutic CTD_human 1501 CTNND2 catenin (cadherin-associated protein), delta 2 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 1501 CTNND2 catenin (cadherin-associated protein), delta 2 umls:C0017636 Glioblastoma 0.21 1 Biomarker CTD_human 81863 CTPL1 cataract, pulverulent (autosomal recessive, early-onset) umls:C1854003 Cataract, Autosomal Recessive, Early-Onset, Pulverulent 0.21 0 Biomarker CTD_human 10306 CTPP Cataract, posterior polar umls:C1861825 Cataract, posterior polar, 1 0.21 0 Biomarker CTD_human 1504 CTRB1 chymotrypsinogen B1 umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 80770 CTRCT25 Cataract, central pouch-like, with sutural opacities umls:C1854021 Cataract, Central Saccular, With Sutural Opacities 0.21 0 Biomarker CTD_human 266979 CTRCT27 Cataract, congenital, nuclear progressive umls:C1846520 Cataract, Nuclear Progressive 0.21 0 Biomarker CTD_human 493862 CTRCT28 Cataract 28 umls:C1836942 Cataract, Age-Related Cortical, 1 0.21 0 Biomarker CTD_human 100302720 CTRCT34 Cataract, autosomal recessive congenital 3 umls:C2751822 Cataract, Autosomal Recessive Congenital 3 0.21 0 Biomarker CTD_human 619404 CTRCT35 cataract, congenital nuclear, autosomal recessive umls:C1836272 Cataract, Congenital Nuclear, Autosomal Recessive 1 0.21 0 Biomarker CTD_human 1508 CTSB cathepsin B umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1508 CTSB cathepsin B umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 1508 CTSB cathepsin B umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 1508 CTSB cathepsin B umls:C0027626 Neoplasm Invasiveness 0.21 2 Biomarker CTD_human 1508 CTSB cathepsin B umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1508 CTSB cathepsin B umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 1075 CTSC cathepsin C umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 1075 CTSC cathepsin C umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1075 CTSC cathepsin C umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 1075 CTSC cathepsin C umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1509 CTSD cathepsin D umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 1509 CTSD cathepsin D umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 1509 CTSD cathepsin D umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 1509 CTSD cathepsin D umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 1509 CTSD cathepsin D umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1509 CTSD cathepsin D umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 1512 CTSH cathepsin H umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 1514 CTSL cathepsin L umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 1514 CTSL cathepsin L umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 1514 CTSL cathepsin L umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1520 CTSS cathepsin S umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1520 CTSS cathepsin S umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 1522 CTSZ cathepsin Z umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 1522 CTSZ cathepsin Z umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 83992 CTTNBP2 cortactin binding protein 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 8029 CUBN cubilin (intrinsic factor-cobalamin receptor) umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 8029 CUBN cubilin (intrinsic factor-cobalamin receptor) umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8452 CUL3 cullin 3 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8450 CUL4B cullin 4B umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9820 CUL7 cullin 7 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 57306 CUP2Q35 Syndactyly, type I umls:C1861380 Syndactyly, Type I 0.21 0 Biomarker CTD_human 494028 CVMRF cubitus valgus with mental retardation and unusual facies umls:C1845450 Cubitus Valgus with Mental Retardation and Unusual Facies 0.21 0 Biomarker CTD_human 6376 CX3CL1 chemokine (C-X3-C motif) ligand 1 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6376 CX3CL1 chemokine (C-X3-C motif) ligand 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6376 CX3CL1 chemokine (C-X3-C motif) ligand 1 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 1524 CX3CR1 chemokine (C-X3-C motif) receptor 1 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 1524 CX3CR1 chemokine (C-X3-C motif) receptor 1 umls:C1864205 Macular Degeneration, Age-Related, 1 0.21 0 Biomarker CTD_human 1526 CXB3S coxsackie virus B3 sensitivity umls:C1861511 COXSACKIEVIRUS B3 SUSCEPTIBILITY 0.21 0 Biomarker CTD_human 2919 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) umls:C0085129 Bronchial Hyperreactivity 0.21 1 Biomarker CTD_human 2919 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 2919 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 2919 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 2919 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 2919 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) umls:C0035228 Respiratory Hypersensitivity 0.21 1 Therapeutic CTD_human 2919 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) umls:C0036982 Shock, Hemorrhagic 0.21 1 Biomarker CTD_human 2919 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) umls:C0043251 Wounds and Injuries 0.21 1 Biomarker CTD_human 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0282488 Cystitis, Interstitial 0.21 1 Biomarker CTD_human 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 3627 CXCL10 chemokine (C-X-C motif) ligand 10 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6373 CXCL11 chemokine (C-X-C motif) ligand 11 umls:C0282488 Cystitis, Interstitial 0.21 1 Biomarker CTD_human 9547 CXCL14 chemokine (C-X-C motif) ligand 14 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0005974 Bone Resorption 0.21 1 Therapeutic CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 2920 CXCL2 chemokine (C-X-C motif) ligand 2 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 2921 CXCL3 chemokine (C-X-C motif) ligand 3 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 2921 CXCL3 chemokine (C-X-C motif) ligand 3 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6374 CXCL5 chemokine (C-X-C motif) ligand 5 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6372 CXCL6 chemokine (C-X-C motif) ligand 6 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0002965 Angina, Unstable 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0013080 Down Syndrome 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0013604 Edema 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0020429 Hyperalgesia 0.21 2 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0020542 Hypertension, Pulmonary 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0023283 Leishmaniasis, Cutaneous 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0162848 Lichenoid Eruptions 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0032768 Neuralgia, Postherpetic 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0030200 Pain, Intractable 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0030805 Pemphigoid, Bullous 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0155862 Pneumonia, Pneumococcal 0.21 1 Biomarker CTD_human 3576 CXCL8 chemokine (C-X-C motif) ligand 8 umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 4283 CXCL9 chemokine (C-X-C motif) ligand 9 umls:C0282488 Cystitis, Interstitial 0.21 1 Biomarker CTD_human 4283 CXCL9 chemokine (C-X-C motif) ligand 9 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 4283 CXCL9 chemokine (C-X-C motif) ligand 9 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4283 CXCL9 chemokine (C-X-C motif) ligand 9 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 3577 CXCR1 chemokine (C-X-C motif) receptor 1 umls:C0009324 Colitis, Ulcerative 0.21 1 Biomarker CTD_human 3579 CXCR2 chemokine (C-X-C motif) receptor 2 umls:C0024894 Mastitis 0.21 1 Biomarker CTD_human 3579 CXCR2 chemokine (C-X-C motif) receptor 2 umls:C0243026 Sepsis 0.21 1 Biomarker CTD_human 2833 CXCR3 chemokine (C-X-C motif) receptor 3 umls:C0002171 Alopecia Areata 0.21 1 Biomarker CTD_human 2833 CXCR3 chemokine (C-X-C motif) receptor 3 umls:C0017658 Glomerulonephritis 0.21 1 Biomarker CTD_human 2833 CXCR3 chemokine (C-X-C motif) receptor 3 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 2833 CXCR3 chemokine (C-X-C motif) receptor 3 umls:C0022116 Ischemia 0.21 1 Biomarker CTD_human 7852 CXCR4 chemokine (C-X-C motif) receptor 4 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 7852 CXCR4 chemokine (C-X-C motif) receptor 4 umls:C0027796 Neuralgia 0.21 1 Biomarker CTD_human 643 CXCR5 chemokine (C-X-C motif) receptor 5 umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 79742 CXorf36 chromosome X open reading frame 36 umls:C0008074 Child Development Disorders, Pervasive 0.21 2 Biomarker CTD_human 1528 CYB5A cytochrome b5 type A (microsomal) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1528 CYB5A cytochrome b5 type A (microsomal) umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 51167 CYB5R4 cytochrome b5 reductase 4 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1536 CYBB cytochrome b-245, beta polypeptide umls:C0751955 Brain Infarction 0.21 1 Biomarker CTD_human 1536 CYBB cytochrome b-245, beta polypeptide umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1536 CYBB cytochrome b-245, beta polypeptide umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 1536 CYBB cytochrome b-245, beta polypeptide umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 54205 CYCS cytochrome c, somatic umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 54205 CYCS cytochrome c, somatic umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 54205 CYCS cytochrome c, somatic umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 54205 CYCS cytochrome c, somatic umls:C0022116 Ischemia 0.21 1 Biomarker CTD_human 54205 CYCS cytochrome c, somatic umls:C0007787 Ischemic Attack, Transient 0.21 1 Biomarker CTD_human 54205 CYCS cytochrome c, somatic umls:C0268583 Methylmalonic acidemia 0.21 1 Biomarker CTD_human 54205 CYCS cytochrome c, somatic umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 114757 CYGB cytoglobin umls:C0751870 Heredodegenerative Disorders, Nervous System 0.21 1 Biomarker CTD_human 114757 CYGB cytoglobin umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 1540 CYLD cylindromatosis (turban tumor syndrome) umls:C0023860 Listeriosis 0.21 1 Biomarker CTD_human 1540 CYLD cylindromatosis (turban tumor syndrome) umls:C0040100 Thymoma 0.21 1 Biomarker CTD_human 1583 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 umls:C0342474 Lipoid congenital adrenal hyperplasia 0.21 1 Biomarker CTD_human 1583 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 umls:C0036572 Seizures 0.21 1 Therapeutic CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0020461 Hyperkalemia 0.21 1 Biomarker CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0020540 Hypertension, Malignant 0.21 1 Biomarker CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0020635 Hypopituitarism 0.21 1 Biomarker CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0028949 Oligomenorrhea 0.21 1 Biomarker CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0033953 Sexual Dysfunctions, Psychological 0.21 1 Biomarker CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0002453 Amenorrhea 0.21 1 Biomarker CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0005974 Bone Resorption 0.21 1 Biomarker CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0010340 Critical Illness 0.21 1 Biomarker CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0085207 Diabetes, Gestational 0.21 1 Biomarker CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0020635 Hypopituitarism 0.21 1 Biomarker CTD_human 1588 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0003860 Arteritis 0.21 1 Biomarker CTD_human 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 1543 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 umls:C0085096 Peripheral Vascular Diseases 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0333641 Atrophy 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0019209 Hepatomegaly 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0023904 Liver Neoplasms, Experimental 0.21 2 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0025637 Methemoglobinemia 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0037997 Splenic Diseases 0.21 1 Biomarker CTD_human 1544 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 umls:C0038002 Splenomegaly 0.21 1 Biomarker CTD_human 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 1591 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1591 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1591 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 umls:C1565489 Renal Insufficiency 0.21 1 Biomarker CTD_human 1592 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 1592 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1592 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 56603 CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 56603 CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 1593 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 1593 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 1594 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 umls:C0085655 Polymyositis 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0206704 Carcinoma, Large Cell 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0019163 Hepatitis B 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0023897 Liver Diseases, Parasitic 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0027439 Nasopharyngeal Neoplasms 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0029106 Opisthorchiasis 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C0038356 Stomach Neoplasms 0.21 2 Biomarker CTD_human 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 2 Biomarker, Therapeutic CTD_human 1555 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 umls:C0206726 Gliosarcoma 0.21 2 Therapeutic CTD_human 1555 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 1 Biomarker CTD_human 1562 CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18 umls:C0206726 Gliosarcoma 0.21 1 Therapeutic CTD_human 1562 CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1557 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 1557 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 umls:C1836023 Drug Metabolism, Poor, CYP2C19-Related 0.21 0 Biomarker CTD_human 1558 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 1558 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 1558 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 umls:C0035410 Rhabdomyolysis 0.21 1 Biomarker CTD_human 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 2 Biomarker CTD_human 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C0027707 Nephritis, Interstitial 0.21 1 Biomarker CTD_human 1559 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0009421 Coma 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C1837154 Drug Metabolism, Poor, CYP2D6-Related 0.21 0 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0013421 Dystonia 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0026837 Muscle Rigidity 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0027707 Nephritis, Interstitial 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0028797 Occupational Diseases 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0033054 Prenatal Exposure Delayed Effects 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0033953 Sexual Dysfunctions, Psychological 0.21 2 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0040822 Tremor 0.21 1 Biomarker CTD_human 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C1449861 Micronuclei, Chromosome-Defective 0.21 1 Biomarker CTD_human 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0027540 Necrosis 0.21 2 Biomarker CTD_human 1571 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 120227 CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 120227 CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 1576 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 umls:C0040479 Torsades de Pointes 0.21 1 Biomarker CTD_human 1577 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 umls:C0085580 Hypertension, Essential 0.21 0 Biomarker CTD_human 66002 CYP4F12 cytochrome P450, family 4, subfamily F, polypeptide 12 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4051 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 umls:C0032343 Poisoning 0.21 1 Biomarker CTD_human 9420 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 9420 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 9420 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 umls:C0023772 Lipid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 9420 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 umls:C2931356 Spastic paraplegia type 5A, recessive 0.21 1 Biomarker CTD_human 1582 CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 1582 CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10800 CYSLTR1 cysteinyl leukotriene receptor 1 umls:C0016659 Fractures, Closed 0.21 1 Biomarker CTD_human 57105 CYSLTR2 cysteinyl leukotriene receptor 2 umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 728294 D2HGDH D-2-hydroxyglutarate dehydrogenase umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 100188695 DA4 arthrogryposis, distal, type 4 umls:C1836756 Arthrogryposis, Distal, Type 4 0.21 0 Biomarker CTD_human 153090 DAB2IP DAB2 interacting protein umls:C0085096 Peripheral Vascular Diseases 0.21 1 Biomarker CTD_human 153090 DAB2IP DAB2 interacting protein umls:C0034065 Pulmonary Embolism 0.21 1 Biomarker CTD_human 168002 DACT2 dishevelled-binding antagonist of beta-catenin 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 147906 DACT3 dishevelled-binding antagonist of beta-catenin 3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7818 DAP3 death associated protein 3 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0006118 Brain Neoplasms 0.21 1 Biomarker CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0009759 Conjunctival Diseases 0.21 1 Biomarker CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0085183 Neoplasms, Second Primary 0.21 1 Biomarker CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1612 DAPK1 death-associated protein kinase 1 umls:C0035242 Respiratory Tract Diseases 0.21 1 Biomarker CTD_human 27071 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 1616 DAXX death-domain associated protein umls:C0206686 Adrenocortical Carcinoma 0.21 1 Biomarker CTD_human 1617 DAZ1 deleted in azoospermia 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 57054 DAZ3 deleted in azoospermia 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 57135 DAZ4 deleted in azoospermia 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1618 DAZL deleted in azoospermia-like umls:C1336708 Testicular Germ Cell Tumor 0.21 1 Biomarker CTD_human 114086 DBA2 Diamond-Blackfan anemia 2 umls:C1853666 Anemia, Diamond-Blackfan, 2 0.21 0 Biomarker CTD_human 1621 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 1621 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1622 DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 1622 DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1622 DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 120237 DBX1 developing brain homeobox 1 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 10238 DCAF7 DDB1 and CUL4 associated factor 7 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 10238 DCAF7 DDB1 and CUL4 associated factor 7 umls:C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 0.21 1 Biomarker CTD_human 285761 DCBLD1 discoidin, CUB and LCCL domain containing 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 131566 DCBLD2 discoidin, CUB and LCCL domain containing 2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1630 DCC DCC netrin 1 receptor umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8642 DCHS1 dachsous cadherin-related 1 umls:C1842563 Heterotopia, Periventricular, Autosomal Recessive 0.21 1 Biomarker CTD_human 1633 DCK deoxycytidine kinase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 9201 DCLK1 doublecortin-like kinase 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Therapeutic CTD_human 9201 DCLK1 doublecortin-like kinase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 64421 DCLRE1C DNA cross-link repair 1C umls:C2931884 Reticuloendotheliosis, familial, with eosinophilia 0.21 0 Biomarker CTD_human 1634 DCN decorin umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 1634 DCN decorin umls:C0238288 Muscular Dystrophy, Facioscapulohumeral 0.21 1 Biomarker CTD_human 1634 DCN decorin umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 1634 DCN decorin umls:C0027707 Nephritis, Interstitial 0.21 1 Biomarker CTD_human 81501 DCSTAMP dendrocyte expressed seven transmembrane protein umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 81501 DCSTAMP dendrocyte expressed seven transmembrane protein umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1639 DCTN1 dynactin 1 umls:C3203358 Hypoventilation 0.21 1 Biomarker CTD_human 1639 DCTN1 dynactin 1 umls:C0525045 Mood Disorders 0.21 1 Biomarker CTD_human 1639 DCTN1 dynactin 1 umls:C0242422 Parkinsonian Disorders 0.21 1 Biomarker CTD_human 51164 DCTN4 dynactin 4 (p62) umls:C0033817 Pseudomonas Infections 0.21 1 Biomarker CTD_human 51181 DCXR dicarbonyl/L-xylulose reductase umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 23576 DDAH1 dimethylarginine dimethylaminohydrolase 1 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 23564 DDAH2 dimethylarginine dimethylaminohydrolase 2 umls:C0032914 Pre-Eclampsia 0.21 1 Biomarker CTD_human 1642 DDB1 damage-specific DNA binding protein 1, 127kDa umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1642 DDB1 damage-specific DNA binding protein 1, 127kDa umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1644 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) umls:C0342686 Aromatic amino acid decarboxylase deficiency 0.21 0 Biomarker CTD_human 1644 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) umls:C0004936 Mental Disorders 0.21 1 Biomarker CTD_human 1644 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 1644 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) umls:C0242422 Parkinsonian Disorders 0.21 1 Therapeutic CTD_human 1649 DDIT3 DNA-damage-inducible transcript 3 umls:C0011854 Diabetes Mellitus, Type 1 0.21 1 Biomarker CTD_human 1649 DDIT3 DNA-damage-inducible transcript 3 umls:C0021831 Intestinal Diseases 0.21 1 Biomarker CTD_human 1649 DDIT3 DNA-damage-inducible transcript 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1649 DDIT3 DNA-damage-inducible transcript 3 umls:C0041582 Ulcer 0.21 1 Biomarker CTD_human 54541 DDIT4 DNA-damage-inducible transcript 4 umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 54541 DDIT4 DNA-damage-inducible transcript 4 umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 54541 DDIT4 DNA-damage-inducible transcript 4 umls:C0030567 Parkinson Disease 0.21 1 Therapeutic CTD_human 115265 DDIT4L DNA-damage-inducible transcript 4-like umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 115265 DDIT4L DNA-damage-inducible transcript 4-like umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 780 DDR1 discoidin domain receptor tyrosine kinase 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 29764 DDU dermo-distortive urticaria umls:C1852145 Familial dermographism 0.21 0 Biomarker CTD_human 1653 DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1 umls:C0014173 Endometrial Hyperplasia 0.21 1 Biomarker CTD_human 1653 DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1654 DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1654 DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 1655 DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 11056 DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 79039 DDX54 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 79039 DDX54 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 79039 DDX54 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 23586 DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 23586 DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 umls:C0033860 Psoriasis 0.21 1 Biomarker CTD_human 1656 DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 55601 DDX60 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 1666 DECR1 2,4-dienoyl CoA reductase 1, mitochondrial umls:C0023772 Lipid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 1668 DEFA3 defensin, alpha 3, neutrophil-specific umls:C0023487 Leukemia, Promyelocytic, Acute 0.21 1 Therapeutic CTD_human 1670 DEFA5 defensin, alpha 5, Paneth cell-specific umls:C0206677 Adenomatous Polyps 0.21 1 Biomarker CTD_human 1670 DEFA5 defensin, alpha 5, Paneth cell-specific umls:C0017661 Glomerulonephritis, IGA 0.21 2 Biomarker CTD_human 1670 DEFA5 defensin, alpha 5, Paneth cell-specific umls:C0031269 Peutz-Jeghers Syndrome 0.21 1 Biomarker CTD_human 1671 DEFA6 defensin, alpha 6, Paneth cell-specific umls:C0009324 Colitis, Ulcerative 0.21 1 Biomarker CTD_human 1672 DEFB1 defensin, beta 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1673 DEFB4A defensin, beta 4A umls:C0155862 Pneumonia, Pneumococcal 0.21 1 Biomarker CTD_human 8560 DEGS1 delta(4)-desaturase, sphingolipid 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8560 DEGS1 delta(4)-desaturase, sphingolipid 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7913 DEK DEK proto-oncogene umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 100240736 DEL11P15P14 Chromosome 11p15-p14 deletion syndrome umls:C1847866 Homozygous 11p15-p14 Deletion Syndrome 0.21 0 Biomarker CTD_human 100240731 DEL15Q15.3 Deafness and male infertility umls:C1970187 Deafness, Sensorineural, And Male Infertility 0.21 0 Biomarker CTD_human 100187724 DEL16P11.2 autism, susceptibility to, 14 umls:C0004352 Autistic Disorder 0.21 0 Biomarker CTD_human 100415942 DEL2P21 Hypotonia-cystinuria syndrome umls:C1848030 Hypotonia-Cystinuria Syndrome 0.21 0 Biomarker CTD_human 100526741 DEL8Q13 Mesomelia-synostoses syndrome umls:C1838162 Mesomelia-synostoses syndrome 0.21 0 Biomarker CTD_human 100271686 DELXP11.3 Chromosome Xp11.3 deletion syndrome umls:C1845136 Chromosome Xp11.3 Deletion Syndrome 0.21 0 Biomarker CTD_human 100302680 DELXQ28 Chromosome Xq28 microdeletion syndrome umls:C1845408 Contiguous Abcd1/Dxs1375e Deletion Syndrome 0.21 0 Biomarker CTD_human 619469 DELYQ11 Sertoli cell-only syndrome, Y-linked umls:C1839073 Sertoli cell-only syndrome, Y-linked 0.21 0 Biomarker CTD_human 163486 DENND1B DENN/MADD domain containing 1B umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 100529146 DER22T11-22 Emanuel syndrome umls:C1836929 Emanuel syndrome 0.21 0 Biomarker CTD_human 100529149 DER22T8-22 Supernumerary der(22)t(8-22) syndrome umls:C3150966 SUPERNUMERARY DER(22)t(8 0.21 0 Biomarker CTD_human 1674 DES desmin umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 1674 DES desmin umls:C0017658 Glomerulonephritis 0.21 1 Biomarker CTD_human 1674 DES desmin umls:C0598608 Hyperhomocysteinemia 0.21 1 Biomarker CTD_human 1674 DES desmin umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1674 DES desmin umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1674 DES desmin umls:C0027720 Nephrosis 0.21 1 Biomarker CTD_human 1674 DES desmin umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 51029 DESI2 desumoylating isopeptidase 2 umls:C0919267 Ovarian Neoplasms 0.21 1 Therapeutic CTD_human 100188774 DFCTRPS Deafness, cataract, retinitis pigmentosa, and sperm abnormalities umls:C2678011 Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0.21 0 Biomarker CTD_human 1694 DFNA16 deafness, autosomal dominant 16 umls:C1858916 Deafness, Autosomal Dominant 16 0.21 0 Biomarker CTD_human 85507 DFNA18 deafness, autosomal dominant 18 umls:C1853760 Deafness, Autosomal Dominant 18 0.21 0 Biomarker CTD_human 192644 DFNA21 deafness, autosomal dominant 21 umls:C1846922 Deafness, Autosomal Dominant 21 0.21 0 Biomarker CTD_human 23723 DFNA24 deafness, autosomal dominant 24 umls:C1853451 Deafness, Autosomal Dominant 24 0.21 0 Biomarker CTD_human 23722 DFNA27 deafness, autosomal dominant 27 umls:C1413996 DEAFNESS, AUTOSOMAL DOMINANT 27 0.21 0 Biomarker CTD_human 23719 DFNA30 deafness, autosomal dominant 30 umls:C1847972 Deafness, Autosomal Dominant 30 0.21 0 Biomarker CTD_human 347737 DFNA31 deafness, autosomal dominant 31 umls:C1837617 Deafness, Autosomal Dominant 31 0.21 0 Biomarker CTD_human 192676 DFNA43 deafness, autosomal dominant 43 umls:C1842108 Deafness, Autosomal Dominant 43 0.21 0 Biomarker CTD_human 246289 DFNA47 deafness, autosomal dominant 47 umls:C1837609 Deafness, Autosomal Dominant 47 0.21 0 Biomarker CTD_human 317664 DFNA49 deafness, autosomal dominant 49 umls:C1842136 Deafness, Autosomal Dominant 49 0.21 0 Biomarker CTD_human 170507 DFNA52 deafness, autosomal dominant 52 umls:C1843232 Deafness, Autosomal Dominant 52 0.21 0 Biomarker CTD_human 353347 DFNA53 deafness, autosomal dominant 53 umls:C1864957 Deafness, Autosomal Dominant 53 0.21 0 Biomarker CTD_human 100271924 DFNA59 deafness, autosomal dominant 59 umls:C2675238 Deafness, Autosomal Dominant 59 0.21 0 Biomarker CTD_human 1689 DFNA7 deafness, autosomal dominant 7 umls:C1832379 Deafness, Autosomal Dominant 7 0.21 0 Biomarker CTD_human 1705 DFNB13 deafness, autosomal recessive 13 umls:C1864199 Deafness, Autosomal Recessive 13 0.21 0 Biomarker CTD_human 1706 DFNB14 deafness, autosomal recessive 14 umls:C1863613 Deafness, Autosomal Recessive 14 0.21 0 Biomarker CTD_human 1709 DFNB17 deafness, autosomal recessive 17 umls:C1864276 Deafness, Autosomal Recessive 17 0.21 0 Biomarker CTD_human 1713 DFNB20 deafness, autosomal recessive 20 umls:C1858840 Deafness, Autosomal Recessive 20 0.21 0 Biomarker CTD_human 23714 DFNB26 deafness, autosomal recessive 26 umls:C1854275 Deafness, Autosomal Recessive 26 0.21 0 Biomarker CTD_human 23713 DFNB27 deafness, autosomal recessive 27 umls:C1853941 Deafness, Autosomal Recessive 27 0.21 0 Biomarker CTD_human 113877 DFNB32 deafness, autosomal recessive 32 umls:C1837608 Deafness, Autosomal Recessive 32 0.21 0 Biomarker CTD_human 170508 DFNB33 deafness, autosomal recessive 33 umls:C1846576 Deafness, Autosomal Recessive 33 0.21 0 Biomarker CTD_human 337991 DFNB38 deafness, autosomal recessive 38 umls:C1842381 Deafness, Autosomal Recessive 38 0.21 0 Biomarker CTD_human 379003 DFNB40 deafness, autosomal recessive 40 umls:C1842345 Deafness, Autosomal Recessive 40 0.21 0 Biomarker CTD_human 449484 DFNB44 deafness, autosomal recessive 44 umls:C1857809 Deafness, Autosomal Recessive 44 0.21 0 Biomarker CTD_human 449483 DFNB45 deafness, autosomal recessive 45 umls:C1539278 DEAFNESS, AUTOSOMAL RECESSIVE 45 0.21 0 Biomarker CTD_human 449488 DFNB46 deafness, autosomal recessive 46 umls:C1864815 Deafness, Autosomal Recessive 46 0.21 0 Biomarker CTD_human 449489 DFNB47 deafness, autosomal recessive 47 umls:C1864964 Deafness, Autosomal Recessive 47 0.21 0 Biomarker CTD_human 1697 DFNB5 deafness, autosomal recessive 5 umls:C1833319 Deafness, Autosomal Recessive 5 0.21 0 Biomarker CTD_human 448963 DFNB51 deafness, autosomal recessive 51 umls:C1864968 Deafness, autosomal recessive 51 0.21 0 Biomarker CTD_human 494148 DFNB55 deafness, autosomal recessive 55 umls:C1864962 Deafness, autosomal recessive 55 0.21 0 Biomarker CTD_human 692220 DFNB62 deafness, autosomal recessive 62 umls:C1857820 Deafness, Autosomal Recessive 62 0.21 0 Biomarker CTD_human 692219 DFNB65 deafness, autosomal recessive 65 umls:C1853248 Deafness, Autosomal Recessive 65 0.21 0 Biomarker CTD_human 606719 DFNB66 deafness, autosomal recessive 66 umls:C1857750 Deafness, Autosomal Recessive 66 0.21 0 Biomarker CTD_human 751609 DFNB68 deafness, autosomal recessive 68 umls:C1835854 Deafness, Autosomal Recessive 68 0.21 0 Biomarker CTD_human 100302513 DFNB71 deafness, autosomal recessive 71 umls:C2748554 Deafness, Autosomal Recessive 71 0.21 0 Biomarker CTD_human 100359400 DFNB83 deafness, autosomal recessive 83 umls:C2829263 DEAFNESS, AUTOSOMAL RECESSIVE 83 0.21 0 Biomarker CTD_human 100359399 DFNB85 deafness, autosomal recessive 85 umls:C3160740 DEAFNESS, AUTOSOMAL RECESSIVE 85 0.21 0 Biomarker CTD_human 54362 DFNM1 deafness (recessive, nonsyndromic) modifier 1 umls:C1854274 DEAFNESS, NONSYNDROMIC, MODIFIER 1 0.21 0 Biomarker CTD_human 1680 DFNX3 deafness, X-linked 3 umls:C1848294 Deafness, X-Linked 3 0.21 0 Biomarker CTD_human 724074 DFNY1 deafness, Y-linked 1 umls:C1824927 DEAFNESS, Y-LINKED 1 0.21 0 Biomarker CTD_human 84649 DGAT2 diacylglycerol O-acyltransferase 2 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 54487 DGCR8 DGCR8 microprocessor complex subunit umls:C0004936 Mental Disorders 0.21 1 Biomarker CTD_human 160851 DGKH diacylglycerol kinase, eta umls:C0011881 Diabetic Nephropathies 0.21 1 Biomarker CTD_human 139189 DGKK diacylglycerol kinase, kappa umls:C1845672 Mental Retardation, X-Linked 63 0.21 0 Biomarker CTD_human 1609 DGKQ diacylglycerol kinase, theta 110kDa umls:C1527336 Sjogren's Syndrome 0.21 1 Biomarker CTD_human 8525 DGKZ diacylglycerol kinase, zeta umls:C0027051 Myocardial Infarction 0.21 1 Therapeutic CTD_human 8026 DGS2 DiGeorge syndrome/velocardiofacial syndrome complex 2 umls:C1832431 Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 0.21 0 Biomarker CTD_human 1718 DHCR24 24-dehydrocholesterol reductase umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 1717 DHCR7 7-dehydrocholesterol reductase umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 1717 DHCR7 7-dehydrocholesterol reductase umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 27294 DHDH dihydrodiol dehydrogenase (dimeric) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1719 DHFR dihydrofolate reductase umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1719 DHFR dihydrofolate reductase umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 1719 DHFR dihydrofolate reductase umls:C0021361 Infertility, Female 0.21 1 Therapeutic CTD_human 1719 DHFR dihydrofolate reductase umls:C0025521 Metabolism, Inborn Errors 0.21 2 Biomarker CTD_human 1719 DHFR dihydrofolate reductase umls:C0030312 Pancytopenia 0.21 1 Biomarker CTD_human 1723 DHODH dihydroorotate dehydrogenase (quinone) umls:C0002895 Anemia, Sickle Cell 0.21 1 Biomarker CTD_human 1723 DHODH dihydroorotate dehydrogenase (quinone) umls:C0005283 beta-Thalassemia 0.21 1 Biomarker CTD_human 1723 DHODH dihydroorotate dehydrogenase (quinone) umls:C0023440 Leukemia, Erythroblastic, Acute 0.21 1 Biomarker CTD_human 1723 DHODH dihydroorotate dehydrogenase (quinone) umls:C0037889 Spherocytosis, Hereditary 0.21 1 Biomarker CTD_human 10774 DHS dehydrated hereditary stomatocytosis umls:C1863769 Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema 0.21 0 Biomarker CTD_human 56616 DIABLO diablo, IAP-binding mitochondrial protein umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 56616 DIABLO diablo, IAP-binding mitochondrial protein umls:C0020179 Huntington Disease 0.21 1 Biomarker CTD_human 56616 DIABLO diablo, IAP-binding mitochondrial protein umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 56616 DIABLO diablo, IAP-binding mitochondrial protein umls:C0033578 Prostatic Neoplasms 0.21 1 Therapeutic CTD_human 23771 DIANPH diabetic nephropathy umls:C2676832 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 10824 DIAPH2-AS1 DIAPH2 antisense RNA 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 23405 DICER1 dicer 1, ribonuclease type III umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23405 DICER1 dicer 1, ribonuclease type III umls:C0028960 Oligospermia 0.21 1 Biomarker CTD_human 1732 DIH1 diaphragmatic hernia 1 umls:C0235833 Hernias, Diaphragmatic, Congenital 0.21 0 Biomarker CTD_human 780899 DIH2 Hernia, congenital diaphragmatic 2 umls:C1857284 Diaphragmatic Hernia 2 0.21 0 Biomarker CTD_human 1733 DIO1 deiodinase, iodothyronine, type I umls:C0020551 Hyperthyroxinemia 0.21 1 Biomarker CTD_human 1733 DIO1 deiodinase, iodothyronine, type I umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 1733 DIO1 deiodinase, iodothyronine, type I umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 1733 DIO1 deiodinase, iodothyronine, type I umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 1734 DIO2 deiodinase, iodothyronine, type II umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 1734 DIO2 deiodinase, iodothyronine, type II umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1734 DIO2 deiodinase, iodothyronine, type II umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 1734 DIO2 deiodinase, iodothyronine, type II umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 1735 DIO3 deiodinase, iodothyronine, type III umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 100188011 DIP interstitial pneumonitis, desquamative, familial umls:C0238378 Interstitial Pneumonitis, Desquamative, Familial 0.21 0 Biomarker CTD_human 22982 DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila) umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 27185 DISC1 disrupted in schizophrenia 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 27185 DISC1 disrupted in schizophrenia 1 umls:C0030193 Pain 0.21 1 Biomarker CTD_human 80870 DKBI Dyskeratosis, hereditary benign intraepithelial umls:C0265966 Dyskeratosis, Hereditary Benign Intraepithelial 0.21 0 Biomarker CTD_human 22943 DKK1 dickkopf WNT signaling pathway inhibitor 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 22943 DKK1 dickkopf WNT signaling pathway inhibitor 1 umls:C0016658 Fractures, Bone 0.21 1 Biomarker CTD_human 22943 DKK1 dickkopf WNT signaling pathway inhibitor 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1737 DLAT dihydrolipoamide S-acetyltransferase umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 1738 DLD dihydrolipoamide dehydrogenase umls:C0024776 Maple Syrup Urine Disease 0.21 0 Biomarker CTD_human 1739 DLG1 discs, large homolog 1 (Drosophila) umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 1740 DLG2 discs, large homolog 2 (Drosophila) umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 1742 DLG4 discs, large homolog 4 (Drosophila) umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 1742 DLG4 discs, large homolog 4 (Drosophila) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 9787 DLGAP5 discs, large (Drosophila) homolog-associated protein 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 28514 DLL1 delta-like 1 (Drosophila) umls:C0006118 Brain Neoplasms 0.21 1 Biomarker CTD_human 28514 DLL1 delta-like 1 (Drosophila) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 10683 DLL3 delta-like 3 (Drosophila) umls:C0004114 Astrocytoma 0.21 1 Biomarker CTD_human 10683 DLL3 delta-like 3 (Drosophila) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 10683 DLL3 delta-like 3 (Drosophila) umls:C0029422 Osteochondrodysplasias 0.21 1 Biomarker CTD_human 1745 DLX1 distal-less homeobox 1 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 1745 DLX1 distal-less homeobox 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1746 DLX2 distal-less homeobox 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1747 DLX3 distal-less homeobox 3 umls:C1863012 Amelogenesis Imperfecta, Type IV 0.21 0 Biomarker CTD_human 1749 DLX5 distal-less homeobox 5 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 1755 DMBT1 deleted in malignant brain tumors 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0023269 Leiomyosarcoma 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0026851 Muscular Dystrophy, Animal 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1756 DMD dystrophin umls:C0242973 Ventricular Dysfunction 0.21 1 Biomarker CTD_human 1760 DMPK dystrophia myotonica-protein kinase umls:C0027125 Myotonia 0.21 1 Biomarker CTD_human 1657 DMXL1 Dmx-like 1 umls:C0017638 Glioma 0.21 1 Biomarker CTD_human 8701 DNAH11 dynein, axonemal, heavy chain 11 umls:C0242339 Dyslipidemias 0.21 1 Biomarker CTD_human 8701 DNAH11 dynein, axonemal, heavy chain 11 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 1767 DNAH5 dynein, axonemal, heavy chain 5 umls:C0004096 Asthma 0.21 1 Biomarker CTD_human 1769 DNAH8 dynein, axonemal, heavy chain 8 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 1769 DNAH8 dynein, axonemal, heavy chain 8 umls:C1456784 Paranoid Disorders 0.21 1 Biomarker CTD_human 1769 DNAH8 dynein, axonemal, heavy chain 8 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 3301 DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 64215 DNAJC1 DnaJ (Hsp40) homolog, subfamily C, member 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 54431 DNAJC10 DnaJ (Hsp40) homolog, subfamily C, member 10 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 54431 DNAJC10 DnaJ (Hsp40) homolog, subfamily C, member 10 umls:C0027651 Neoplasms 0.21 1 Therapeutic CTD_human 54431 DNAJC10 DnaJ (Hsp40) homolog, subfamily C, member 10 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 29103 DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 5611 DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7266 DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 1773 DNASE1 deoxyribonuclease I umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 1775 DNASE1L2 deoxyribonuclease I-like 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1776 DNASE1L3 deoxyribonuclease I-like 3 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 1776 DNASE1L3 deoxyribonuclease I-like 3 umls:C0024121 Lung Neoplasms 0.21 1 Therapeutic CTD_human 144132 DNHD1 dynein heavy chain domain 1 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 1759 DNM1 dynamin 1 umls:C0012979 Dog Diseases 0.21 1 Biomarker CTD_human 10059 DNM1L dynamin 1-like umls:C0001125 Acidosis, Lactic 0.21 1 Biomarker CTD_human 10059 DNM1L dynamin 1-like umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 10059 DNM1L dynamin 1-like umls:C0162666 Mitochondrial Encephalomyopathies 0.21 1 Biomarker CTD_human 10059 DNM1L dynamin 1-like umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 10059 DNM1L dynamin 1-like umls:C0029124 Optic Atrophy 0.21 1 Biomarker CTD_human 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0004096 Asthma 0.21 1 Biomarker CTD_human 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C1384666 Hearing Loss 0.21 1 Biomarker CTD_human 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 1788 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 1788 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1788 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha umls:C0282631 Facies 0.21 1 Biomarker CTD_human 1788 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 1788 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha umls:C0079774 Lymphoma, T-Cell, Peripheral 0.21 2 Biomarker CTD_human 1789 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1793 DOCK1 dedicator of cytokinesis 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 55619 DOCK10 dedicator of cytokinesis 10 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1794 DOCK2 dedicator of cytokinesis 2 umls:C0279628 Adenocarcinoma Of Esophagus 0.21 1 Biomarker CTD_human 1794 DOCK2 dedicator of cytokinesis 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1796 DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1) umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 1796 DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1) umls:C0919267 Ovarian Neoplasms 0.21 1 Therapeutic CTD_human 9046 DOK2 docking protein 2, 56kDa umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1798 DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1798 DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 8110 DPF3 D4, zinc and double PHD fingers, family 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 57628 DPP10 dipeptidyl-peptidase 10 (non-functional) umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 57628 DPP10 dipeptidyl-peptidase 10 (non-functional) umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 57628 DPP10 dipeptidyl-peptidase 10 (non-functional) umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 1803 DPP4 dipeptidyl-peptidase 4 umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 1804 DPP6 dipeptidyl-peptidase 6 umls:C0008074 Child Development Disorders, Pervasive 0.21 2 Biomarker CTD_human 29952 DPP7 dipeptidyl-peptidase 7 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 91039 DPP9 dipeptidyl-peptidase 9 umls:C1800706 Idiopathic Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 359787 DPPA3 developmental pluripotency associated 3 umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.21 1 Biomarker CTD_human 1805 DPT dermatopontin umls:C0042345 Varicose Veins 0.21 1 Biomarker CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0008074 Child Development Disorders, Pervasive 0.21 2 Biomarker CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0023014 Language Development Disorders 0.21 1 Biomarker CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0270612 Leukoencephalopathies 0.21 1 Biomarker CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0034139 Purine-Pyrimidine Metabolism, Inborn Errors 0.21 2 Biomarker CTD_human 1806 DPYD dihydropyrimidine dehydrogenase umls:C0036341 Schizophrenia 0.21 2 Biomarker CTD_human 1808 DPYSL2 dihydropyrimidinase-like 2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 10589 DRAP1 DR1-associated protein 1 (negative cofactor 2 alpha) umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 1812 DRD1 dopamine receptor D1 umls:C0236733 Amphetamine-Related Disorders 0.21 2 Biomarker CTD_human 1812 DRD1 dopamine receptor D1 umls:C0007370 Catalepsy 0.21 3 Biomarker CTD_human 1812 DRD1 dopamine receptor D1 umls:C0236736 Cocaine-Related Disorders 0.21 4 Biomarker CTD_human 1812 DRD1 dopamine receptor D1 umls:C0013386 Dyskinesia, Drug-Induced 0.21 4 Biomarker CTD_human 1812 DRD1 dopamine receptor D1 umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 1812 DRD1 dopamine receptor D1 umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 1812 DRD1 dopamine receptor D1 umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 1813 DRD2 dopamine receptor D2 umls:C0428977 Bradycardia 0.21 2 Biomarker CTD_human 1813 DRD2 dopamine receptor D2 umls:C0007370 Catalepsy 0.21 4 Biomarker CTD_human 1813 DRD2 dopamine receptor D2 umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 1813 DRD2 dopamine receptor D2 umls:C0424295 Hyperkinesis 0.21 2 Biomarker CTD_human 1813 DRD2 dopamine receptor D2 umls:C0020649 Hypotension 0.21 4 Biomarker CTD_human 1814 DRD3 dopamine receptor D3 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 1814 DRD3 dopamine receptor D3 umls:C0004782 Basal Ganglia Diseases 0.21 1 Biomarker CTD_human 1814 DRD3 dopamine receptor D3 umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 1814 DRD3 dopamine receptor D3 umls:C0016995 Gambling 0.21 1 Biomarker CTD_human 1814 DRD3 dopamine receptor D3 umls:C0424295 Hyperkinesis 0.21 1 Therapeutic CTD_human 1814 DRD3 dopamine receptor D3 umls:C1860861 Tremor hereditary essential, 1 0.21 0 Biomarker CTD_human 1815 DRD4 dopamine receptor D4 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 1815 DRD4 dopamine receptor D4 umls:C1527281 Anxiety, Separation 0.21 1 Biomarker CTD_human 1815 DRD4 dopamine receptor D4 umls:C0236964 Attention Deficit and Disruptive Behavior Disorders 0.21 1 Biomarker CTD_human 1815 DRD4 dopamine receptor D4 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 1815 DRD4 dopamine receptor D4 umls:C1866430 NOVELTY SEEKING PERSONALITY TRAIT 0.21 0 Biomarker CTD_human 1815 DRD4 dopamine receptor D4 umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 1816 DRD5 dopamine receptor D5 umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 1816 DRD5 dopamine receptor D5 umls:C0040485 Torticollis 0.21 1 Biomarker CTD_human 29102 DROSHA drosha, ribonuclease type III umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 1823 DSC1 desmocollin 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 1824 DSC2 desmocollin 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1826 DSCAM Down syndrome cell adhesion molecule umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 1828 DSG1 desmoglein 1 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 1828 DSG1 desmoglein 1 umls:C2931122 Keratosis palmoplantaris striata 1 0.21 0 Biomarker CTD_human 1828 DSG1 desmoglein 1 umls:C0025517 Metabolic Diseases 0.21 1 Biomarker CTD_human 1829 DSG2 desmoglein 2 umls:C2752072 Cardiomyopathy, Dilated, 1BB 0.21 0 Biomarker CTD_human 1832 DSP desmoplakin umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1832 DSP desmoplakin umls:C1800706 Idiopathic Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 1834 DSPP dentin sialophosphoprotein umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 1834 DSPP dentin sialophosphoprotein umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 51514 DTL denticleless E3 ubiquitin protein ligase homolog (Drosophila) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 51514 DTL denticleless E3 ubiquitin protein ligase homolog (Drosophila) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 51514 DTL denticleless E3 ubiquitin protein ligase homolog (Drosophila) umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 84062 DTNBP1 dystrobrevin binding protein 1 umls:C2931875 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 0.21 0 Biomarker CTD_human 1840 DTX1 deltex 1, E3 ubiquitin ligase umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 1840 DTX1 deltex 1, E3 ubiquitin ligase umls:C0028945 Oligodendroglioma 0.21 1 Biomarker CTD_human 113878 DTX2 deltex 2, E3 ubiquitin ligase umls:C0006118 Brain Neoplasms 0.21 1 Biomarker CTD_human 196403 DTX3 deltex 3, E3 ubiquitin ligase umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 23220 DTX4 deltex 4, E3 ubiquitin ligase umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 23220 DTX4 deltex 4, E3 ubiquitin ligase umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 387570 DUH1 Dyschromatosis universalis hereditaria umls:C2675711 Dyschromatosis Universalis Hereditaria 1 0.21 0 Biomarker CTD_human 100240730 DUP7Q11.23 Chromosome 7q11.23 duplication syndrome umls:C1857844 Williams-Beuren Region Duplication Syndrome 0.21 0 Biomarker CTD_human 780895 DUPC1 Dupuytren contracture 1 umls:C0013312 Dupuytren Contracture 0.21 0 Biomarker CTD_human 1843 DUSP1 dual specificity phosphatase 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1843 DUSP1 dual specificity phosphatase 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 11221 DUSP10 dual specificity phosphatase 10 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 11221 DUSP10 dual specificity phosphatase 10 umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 51207 DUSP13 dual specificity phosphatase 13 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 54935 DUSP23 dual specificity phosphatase 23 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1848 DUSP6 dual specificity phosphatase 6 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 1848 DUSP6 dual specificity phosphatase 6 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1848 DUSP6 dual specificity phosphatase 6 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1848 DUSP6 dual specificity phosphatase 6 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 653545 DUX4L5 double homeobox 4 like 5 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1858 DWS dandy-walker syndrome umls:C0010964 Dandy-Walker Syndrome 0.21 0 Biomarker CTD_human 1778 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 1783 DYNC1LI2 dynein, cytoplasmic 1, light intermediate chain 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 8655 DYNLL1 dynein, light chain, LC8-type 1 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 9149 DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 8445 DYRK2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 93983 DYT13 dystonia 13, torsion umls:C1843264 Dystonia 13, Torsion 0.21 0 Biomarker CTD_human 317714 DYT15 dystonia 15, myoclonic umls:C1843786 Dystonia 15, myoclonic 0.21 0 Biomarker CTD_human 100216344 DYT17 dystonia 17 umls:C2676281 Dystonia 17, Torsion, Autosomal Recessive 0.21 0 Biomarker CTD_human 1862 DYT2 dystonia 2, torsion (autosomal recessive) umls:C1857093 Dystonia musculorum deformans type 2 0.21 0 Biomarker CTD_human 1866 DYT7 dystonia 7, torsion (autosomal dominant) umls:C1865818 Torsion dystonia 7 0.21 0 Biomarker CTD_human 266691 DYX6 dyslexia susceptibility 6 umls:C0476254 Dyslexia 0.21 0 Biomarker CTD_human 474159 DYX9 dyslexia susceptibility 9 umls:C0476254 Dyslexia 0.21 0 Biomarker CTD_human 1878 E11S ECHO virus (serotypes 4, 6, 11, 19) sensitivity umls:C1851888 Echo Virus 11 Sensitivity 0.21 0 Biomarker CTD_human 780905 EA3 Episodic ataxia, type 3 umls:C1847839 Episodic Ataxia, Type 3 0.21 0 Biomarker CTD_human 100188859 EA7 Episodic ataxia, type 7 umls:C2677843 Episodic Ataxia, Type 7 0.21 0 Biomarker CTD_human 55840 EAF2 ELL associated factor 2 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 55840 EAF2 ELL associated factor 2 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 55840 EAF2 ELL associated factor 2 umls:C0079731 Lymphoma, B-Cell 0.21 1 Biomarker CTD_human 1879 EBF1 early B-cell factor 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 1879 EBF1 early B-cell factor 1 umls:C0024301 Lymphoma, Follicular 0.21 1 Biomarker CTD_human 10148 EBI3 Epstein-Barr virus induced 3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1881 EBM epidermolysis bullosa, macular type umls:C0795974 Bullous Dystrophy, Hereditary Macular Type 0.21 0 Biomarker CTD_human 1884 EBR3 epidermolysis bullosa 3, progressiva umls:C0268368 Epidermolysis Bullosa Dystrophica Neurotrophica 0.21 0 Biomarker CTD_human 1888 EBVS1 Epstein Barr virus integration site 1 umls:C1414241 EPSTEIN-BARR VIRUS INSERTION SITE 1 0.21 0 Biomarker CTD_human 8056 ECB2 erythrocytosis, autosomal recessive benign 2 umls:C1837915 Erythrocytosis, Familial, 2 0.21 0 Biomarker CTD_human 1889 ECE1 endothelin converting enzyme 1 umls:C1145628 Autonomic Nervous System Diseases 0.21 1 Biomarker CTD_human 1889 ECE1 endothelin converting enzyme 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1889 ECE1 endothelin converting enzyme 1 umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 55862 ECHDC1 ethylmalonyl-CoA decarboxylase 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 1892 ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 1892 ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1893 ECM1 extracellular matrix protein 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1842 ECM2 extracellular matrix protein 2, female organ and adipocyte specific umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 1894 ECT2 epithelial cell transforming 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1896 EDA ectodysplasin A umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 55741 EDEM2 ER degradation enhancer, mannosidase alpha-like 2 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0242488 Acute Lung Injury 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0428977 Bradycardia 0.21 2 Therapeutic CTD_human 1906 EDN1 endothelin 1 umls:C0243050 Cardiovascular Abnormalities 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0007302 Cartilage Diseases 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0007820 Cerebrovascular Disorders 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0376634 Craniofacial Abnormalities 0.21 4 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0017178 Gastrointestinal Diseases 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0019212 Hepatorenal Syndrome 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0019284 Hernia, Diaphragmatic 0.21 2 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0020443 Hypercholesterolemia 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0020564 Hypertrophy 0.21 2 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 1906 EDN1 endothelin 1 umls:C0149745 Oral Ulcer 0.21 1 Therapeutic CTD_human 1906 EDN1 endothelin 1 umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0030920 Peptic Ulcer 0.21 1 Therapeutic CTD_human 1906 EDN1 endothelin 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0878773 Urinary Bladder, Overactive 0.21 1 Biomarker CTD_human 1906 EDN1 endothelin 1 umls:C0080274 Urinary Retention 0.21 1 Biomarker CTD_human 1907 EDN2 endothelin 2 umls:C0428977 Bradycardia 0.21 1 Therapeutic CTD_human 1907 EDN2 endothelin 2 umls:C0020649 Hypotension 0.21 1 Therapeutic CTD_human 1908 EDN3 endothelin 3 umls:C0428977 Bradycardia 0.21 1 Therapeutic CTD_human 1908 EDN3 endothelin 3 umls:C0020649 Hypotension 0.21 2 Biomarker, Therapeutic CTD_human 1909 EDNRA endothelin receptor type A umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 1909 EDNRA endothelin receptor type A umls:C0019284 Hernia, Diaphragmatic 0.21 2 Biomarker CTD_human 1909 EDNRA endothelin receptor type A umls:C0027439 Nasopharyngeal Neoplasms 0.21 1 Biomarker CTD_human 1910 EDNRB endothelin receptor type B umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 1910 EDNRB endothelin receptor type B umls:C0027720 Nephrosis 0.21 1 Biomarker CTD_human 1910 EDNRB endothelin receptor type B umls:C0038525 Subarachnoid Hemorrhage 0.21 1 Biomarker CTD_human 791254 EDS8 Ehlers-Danlos syndrome, type VIII umls:C0268347 Ehlers-Danlos Syndrome, Type VIII 0.21 0 Biomarker CTD_human 100505394 EDSS2 Ectodermal dysplasia-syndactyly syndrome 2 umls:C3150809 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 0.21 0 Biomarker CTD_human 1913 EEC1 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 umls:C1851841 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 0.21 0 Biomarker CTD_human 8726 EED embryonic ectoderm development umls:C0206727 Nerve Sheath Neoplasms 0.21 1 Biomarker CTD_human 1915 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1915 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1915 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1917 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 1933 EEF1B2 eukaryotic translation elongation factor 1 beta 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 1933 EEF1B2 eukaryotic translation elongation factor 1 beta 2 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 1933 EEF1B2 eukaryotic translation elongation factor 1 beta 2 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 1938 EEF2 eukaryotic translation elongation factor 2 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 1938 EEF2 eukaryotic translation elongation factor 2 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 1938 EEF2 eukaryotic translation elongation factor 2 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 1938 EEF2 eukaryotic translation elongation factor 2 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 1938 EEF2 eukaryotic translation elongation factor 2 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 1938 EEF2 eukaryotic translation elongation factor 2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 1938 EEF2 eukaryotic translation elongation factor 2 umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 2202 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 2202 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2202 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2202 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 80303 EFHD1 EF-hand domain family, member D1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 80303 EFHD1 EF-hand domain family, member D1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 1942 EFNA1 ephrin-A1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 1946 EFNA5 ephrin-A5 umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 1947 EFNB1 ephrin-B1 umls:C1876203 Frontonasal dysplasia 0.21 1 Biomarker CTD_human 1947 EFNB1 ephrin-B1 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 1947 EFNB1 ephrin-B1 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 1948 EFNB2 ephrin-B2 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 1948 EFNB2 ephrin-B2 umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 23167 EFR3A EFR3 homolog A (S. cerevisiae) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1950 EGF epidermal growth factor umls:C0007621 Cell Transformation, Neoplastic 0.21 2 Biomarker CTD_human 1950 EGF epidermal growth factor umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 1950 EGF epidermal growth factor umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1950 EGF epidermal growth factor umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 1950 EGF epidermal growth factor umls:C0027626 Neoplasm Invasiveness 0.21 2 Biomarker CTD_human 1950 EGF epidermal growth factor umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1950 EGF epidermal growth factor umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 1950 EGF epidermal growth factor umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 1950 EGF epidermal growth factor umls:C0038358 Stomach Ulcer 0.21 2 Therapeutic CTD_human 1956 EGFR epidermal growth factor receptor umls:C2609414 Acute Kidney Injury 0.21 1 Therapeutic CTD_human 1956 EGFR epidermal growth factor receptor umls:C0993582 Arthritis, Experimental 0.21 1 Therapeutic CTD_human 1956 EGFR epidermal growth factor receptor umls:C0005396 Bile Duct Neoplasms 0.21 1 Therapeutic CTD_human 1956 EGFR epidermal growth factor receptor umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1956 EGFR epidermal growth factor receptor umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 1956 EGFR epidermal growth factor receptor umls:C0016978 Gallbladder Neoplasms 0.21 1 Biomarker CTD_human 1956 EGFR epidermal growth factor receptor umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 1956 EGFR epidermal growth factor receptor umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1956 EGFR epidermal growth factor receptor umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 1956 EGFR epidermal growth factor receptor umls:C0027439 Nasopharyngeal Neoplasms 0.21 1 Biomarker CTD_human 1957 EGI epilepsy, generalized, idiopathic umls:C0270850 Epilepsy, Idiopathic Generalized 0.21 0 Biomarker CTD_human 112398 EGLN2 egl-9 family hypoxia-inducible factor 2 umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 1 Biomarker CTD_human 1958 EGR1 early growth response 1 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 1958 EGR1 early growth response 1 umls:C0008372 Cholestasis, Intrahepatic 0.21 2 Biomarker CTD_human 1958 EGR1 early growth response 1 umls:C0236736 Cocaine-Related Disorders 0.21 3 Biomarker, Therapeutic CTD_human 1958 EGR1 early growth response 1 umls:C0020295 Hydronephrosis 0.21 1 Biomarker CTD_human 1958 EGR1 early growth response 1 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 1959 EGR2 early growth response 2 umls:C0027888 Hereditary Sensory and Motor Neuropathy 0.21 0 Biomarker CTD_human 1959 EGR2 early growth response 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 1960 EGR3 early growth response 3 umls:C0004134 Ataxia 0.21 1 Biomarker CTD_human 1962 EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 79813 EHMT1 euchromatic histone-lysine N-methyltransferase 1 umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 10919 EHMT2 euchromatic histone-lysine N-methyltransferase 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Therapeutic CTD_human 10919 EHMT2 euchromatic histone-lysine N-methyltransferase 2 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 10919 EHMT2 euchromatic histone-lysine N-methyltransferase 2 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 9538 EI24 etoposide induced 2.4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 23741 EID1 EP300 interacting inhibitor of differentiation 1 umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 84285 EIF1AD eukaryotic translation initiation factor 1A domain containing umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 83939 EIF2A eukaryotic translation initiation factor 2A, 65kDa umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 83939 EIF2A eukaryotic translation initiation factor 2A, 65kDa umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 5610 EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5610 EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 9451 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 9451 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 440275 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 440275 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 umls:C0018500 Hair Diseases 0.21 1 Biomarker CTD_human 440275 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 umls:C0021053 Immune System Diseases 0.21 1 Biomarker CTD_human 440275 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 8891 EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa umls:C1847967 Vanishing White Matter Leukodystrophy with Ovarian Failure 0.21 0 Biomarker CTD_human 8890 EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 8893 EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 1965 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 1965 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 1965 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 1965 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 8894 EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 8661 EIF3A eukaryotic translation initiation factor 3, subunit A umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8662 EIF3B eukaryotic translation initiation factor 3, subunit B umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 8667 EIF3H eukaryotic translation initiation factor 3, subunit H umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 1973 EIF4A1 eukaryotic translation initiation factor 4A1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 1978 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 1983 EIF5 eukaryotic translation initiation factor 5 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 1984 EIF5A eukaryotic translation initiation factor 5A umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 1984 EIF5A eukaryotic translation initiation factor 5A umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 1984 EIF5A eukaryotic translation initiation factor 5A umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1984 EIF5A eukaryotic translation initiation factor 5A umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3692 EIF6 eukaryotic translation initiation factor 6 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 353124 EIG2 Epilepsy, idiopathic generalized, susceptibility to 2 umls:C0270850 Epilepsy, Idiopathic Generalized 0.21 0 Biomarker CTD_human 432400 EIG3 Epilepsy, idiopathic generalized, susceptibility to 3 umls:C0270850 Epilepsy, Idiopathic Generalized 0.21 0 Biomarker CTD_human 780913 EIG4 Epilepsy, idiopathic generalized, susceptibility to 4 umls:C0270850 Epilepsy, Idiopathic Generalized 0.21 0 Biomarker CTD_human 100188861 EIG5 Epilepsy, idiopathic generalized, susceptibility to, 5 umls:C0270850 Epilepsy, Idiopathic Generalized 0.21 0 Biomarker CTD_human 54119 EIM Infantile myoclonic epilepsy umls:C0917800 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE 0.21 0 Biomarker CTD_human 449018 EJM3 Epilepsy, juvenile myoclonic 3 umls:C0270853 Myoclonic Epilepsy, Juvenile 0.21 0 Biomarker CTD_human 100126594 EJM4 Myoclonic epilepsy, juvenile, 4 umls:C0270853 Myoclonic Epilepsy, Juvenile 0.21 0 Biomarker CTD_human 1994 ELAVL1 ELAV like RNA binding protein 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1995 ELAVL3 ELAV like neuron-specific RNA binding protein 3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1999 ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) umls:C0273115 Lung Injury 0.21 1 Therapeutic CTD_human 2004 ELK3 ELK3, ETS-domain protein (SRF accessory protein 2) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 2006 ELN elastin umls:C3276539 CUTIS LAXA, AUTOSOMAL DOMINANT 1 0.21 0 Biomarker CTD_human 2006 ELN elastin umls:C0238288 Muscular Dystrophy, Facioscapulohumeral 0.21 1 Biomarker CTD_human 54898 ELOVL2 ELOVL fatty acid elongase 2 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 79071 ELOVL6 ELOVL fatty acid elongase 6 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 79071 ELOVL6 ELOVL fatty acid elongase 6 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 55250 ELP2 elongator acetyltransferase complex subunit 2 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 133418 EMB embigin umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 10436 EMG1 EMG1 N1-specific pseudouridine methyltransferase umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 27436 EML4 echinoderm microtubule associated protein like 4 umls:C0006118 Brain Neoplasms 0.21 1 Biomarker CTD_human 2012 EMP1 epithelial membrane protein 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 2012 EMP1 epithelial membrane protein 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2014 EMP3 epithelial membrane protein 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10118 EMWX episodic muscle weakness, X-linked umls:C1846173 Episodic Muscle Weakness, X-Linked 0.21 0 Biomarker CTD_human 2018 EMX2 empty spiracles homeobox 2 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 2018 EMX2 empty spiracles homeobox 2 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 2019 EN1 engrailed homeobox 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2019 EN1 engrailed homeobox 1 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 2019 EN1 engrailed homeobox 1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 10117 ENAM enamelin umls:C2673923 Amelogenesis Imperfecta, Type Ic 0.21 0 Biomarker CTD_human 50971 ENFL2 Epilepsy, nocturnal frontal lobe, type 2 umls:C1864125 Epilepsy, Nocturnal Frontal Lobe, Type 2 0.21 0 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 2023 ENO1 enolase 1, (alpha) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 2026 ENO2 enolase 2 (gamma, neuronal) umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 2026 ENO2 enolase 2 (gamma, neuronal) umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 2026 ENO2 enolase 2 (gamma, neuronal) umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2026 ENO2 enolase 2 (gamma, neuronal) umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2026 ENO2 enolase 2 (gamma, neuronal) umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 2027 ENO3 enolase 3 (beta, muscle) umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 387712 ENO4 enolase family member 4 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 5168 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 umls:C0019158 Hepatitis 0.21 1 Biomarker CTD_human 59084 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2029 ENSA endosulfine alpha umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 953 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 955 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 (putative) umls:C0036631 Seminoma 0.21 1 Biomarker CTD_human 2031 ENUR1 enuresis, nocturnal 1 umls:C0270327 Nocturnal Enuresis 0.21 0 Biomarker CTD_human 2032 ENUR2 enuresis, nocturnal 2 umls:C1833268 Enuresis, Nocturnal, 2 0.21 0 Biomarker CTD_human 100302511 EOE1 Esophagitis, eosinophilic umls:C0341106 Eosinophilic Esophagitis 0.21 0 Biomarker CTD_human 100499167 EOE2 Esophagitis, eosinophilic, 2 umls:C0341106 Eosinophilic Esophagitis 0.21 0 Biomarker CTD_human 7908 EOS eosinophilia, familial umls:C0272192 Eosinophilia, Familial 0.21 0 Biomarker CTD_human 2033 EP300 E1A binding protein p300 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2033 EP300 E1A binding protein p300 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 2033 EP300 E1A binding protein p300 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 2 Biomarker CTD_human 2033 EP300 E1A binding protein p300 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 2033 EP300 E1A binding protein p300 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 2034 EPAS1 endothelial PAS domain protein 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 2034 EPAS1 endothelial PAS domain protein 1 umls:C0008625 Chromosome Aberrations 0.21 1 Biomarker CTD_human 2035 EPB41 erythrocyte membrane protein band 4.1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 4072 EPCAM epithelial cell adhesion molecule umls:C2931459 Lynch syndrome I (site-specific colonic cancer) 0.21 1 Biomarker CTD_human 4072 EPCAM epithelial cell adhesion molecule umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 4072 EPCAM epithelial cell adhesion molecule umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4072 EPCAM epithelial cell adhesion molecule umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 57724 EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 57724 EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) umls:C0162835 Hypopigmentation 0.21 1 Biomarker CTD_human 57724 EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 1969 EPHA2 EPH receptor A2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 2045 EPHA7 EPH receptor A7 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0000771 Abnormalities, Drug-Induced 0.21 1 Biomarker CTD_human 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C1449861 Micronuclei, Chromosome-Defective 0.21 1 Biomarker CTD_human 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C0033578 Prostatic Neoplasms 0.21 2 Biomarker CTD_human 2053 EPHX2 epoxide hydrolase 2, cytoplasmic umls:C0745103 HYPERCHOLESTEROLEMIA, FAMILIAL 0.21 0 Biomarker CTD_human 79852 EPHX3 epoxide hydrolase 3 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 79852 EPHX3 epoxide hydrolase 3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 2056 EPO erythropoietin umls:C2609414 Acute Kidney Injury 0.21 2 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 2056 EPO erythropoietin umls:C0878544 Cardiomyopathies 0.21 4 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0009241 Cognition Disorders 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0018818 Heart Septal Defects, Ventricular 0.21 1 Biomarker CTD_human 2056 EPO erythropoietin umls:C0019061 Hemolytic-Uremic Syndrome 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 2056 EPO erythropoietin umls:C0027746 Nerve Degeneration 0.21 3 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0032343 Poisoning 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0152025 Polyneuropathies 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C1565489 Renal Insufficiency 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0036216 Sarcoma, Experimental 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0036980 Shock, Cardiogenic 0.21 1 Biomarker CTD_human 2056 EPO erythropoietin umls:C0038220 Status Epilepticus 0.21 2 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0042514 Tachycardia, Ventricular 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0040034 Thrombocytopenia 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0040053 Thrombosis 0.21 2 Biomarker CTD_human 2056 EPO erythropoietin umls:C0042373 Vascular Diseases 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0042510 Ventricular Fibrillation 0.21 1 Therapeutic CTD_human 2056 EPO erythropoietin umls:C0043096 Weight Loss 0.21 1 Therapeutic CTD_human 2057 EPOR erythropoietin receptor umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 2057 EPOR erythropoietin receptor umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 83481 EPPK1 epiplakin 1 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 266789 EPPS Epilepsy, partial, with pericentral spikes umls:C1846609 Epilepsy, Partial, with Pericentral Spikes 0.21 0 Biomarker CTD_human 574044 EPRPDC Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp umls:C1842531 Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 0.21 0 Biomarker CTD_human 2059 EPS8 epidermal growth factor receptor pathway substrate 8 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 79574 EPS8L3 EPS8-like 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0016978 Gallbladder Neoplasms 0.21 1 Biomarker CTD_human 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 55914 ERBB2IP erbb2 interacting protein umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2065 ERBB3 erb-b2 receptor tyrosine kinase 3 umls:C0016978 Gallbladder Neoplasms 0.21 1 Biomarker CTD_human 2065 ERBB3 erb-b2 receptor tyrosine kinase 3 umls:C2931822 Nasopharyngeal carcinoma 0.21 1 Biomarker CTD_human 2066 ERBB4 erb-b2 receptor tyrosine kinase 4 umls:C0016978 Gallbladder Neoplasms 0.21 1 Biomarker CTD_human 2067 ERCC1 excision repair cross-complementation group 1 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 2067 ERCC1 excision repair cross-complementation group 1 umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.21 1 Biomarker CTD_human 2068 ERCC2 excision repair cross-complementation group 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2071 ERCC3 excision repair cross-complementation group 3 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 2071 ERCC3 excision repair cross-complementation group 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2072 ERCC4 excision repair cross-complementation group 4 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 2072 ERCC4 excision repair cross-complementation group 4 umls:C1449861 Micronuclei, Chromosome-Defective 0.21 1 Biomarker CTD_human 2072 ERCC4 excision repair cross-complementation group 4 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 2072 ERCC4 excision repair cross-complementation group 4 umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.21 1 Biomarker CTD_human 2072 ERCC4 excision repair cross-complementation group 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2072 ERCC4 excision repair cross-complementation group 4 umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 2072 ERCC4 excision repair cross-complementation group 4 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 2074 ERCC6 excision repair cross-complementation group 6 umls:C0003886 Arthrogryposis 0.21 1 Biomarker CTD_human 2074 ERCC6 excision repair cross-complementation group 6 umls:C0086543 Cataract 0.21 1 Biomarker CTD_human 2074 ERCC6 excision repair cross-complementation group 6 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2074 ERCC6 excision repair cross-complementation group 6 umls:C0265201 De Sanctis-Cacchione syndrome 0.21 1 Biomarker CTD_human 2074 ERCC6 excision repair cross-complementation group 6 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 2074 ERCC6 excision repair cross-complementation group 6 umls:C0025958 Microcephaly 0.21 2 Biomarker CTD_human 2074 ERCC6 excision repair cross-complementation group 6 umls:C0026010 Microphthalmos 0.21 1 Biomarker CTD_human 2074 ERCC6 excision repair cross-complementation group 6 umls:C0033922 Psychomotor Disorders 0.21 1 Biomarker CTD_human 2074 ERCC6 excision repair cross-complementation group 6 umls:C3551173 UV-SENSITIVE SYNDROME 1 0.21 0 Biomarker CTD_human 2069 EREG epiregulin umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2069 EREG epiregulin umls:C0919267 Ovarian Neoplasms 0.21 1 Therapeutic CTD_human 2069 EREG epiregulin umls:C0162568 Protoporphyria, Erythropoietic 0.21 1 Biomarker CTD_human 2077 ERF Ets2 repressor factor umls:C0003803 Arnold-Chiari Malformation 0.21 1 Biomarker CTD_human 2077 ERF Ets2 repressor factor umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2077 ERF Ets2 repressor factor umls:C0010278 Craniosynostoses 0.21 1 Biomarker CTD_human 2077 ERF Ets2 repressor factor umls:C0023014 Language Development Disorders 0.21 1 Biomarker CTD_human 51290 ERGIC2 ERGIC and golgi 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10613 ERLIN1 ER lipid raft associated 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2081 ERN1 endoplasmic reticulum to nucleus signaling 1 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 30001 ERO1L ERO1-like (S. cerevisiae) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10961 ERP29 endoplasmic reticulum protein 29 umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 10961 ERP29 endoplasmic reticulum protein 29 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 10961 ERP29 endoplasmic reticulum protein 29 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 23071 ERP44 endoplasmic reticulum protein 44 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 54206 ERRFI1 ERBB receptor feedback inhibitor 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 54206 ERRFI1 ERBB receptor feedback inhibitor 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 90952 ESAM endothelial cell adhesion molecule umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 2098 ESD esterase D umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 2098 ESD esterase D umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 9700 ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 9700 ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae) umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 9700 ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae) umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 9700 ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae) umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 83715 ESPN espin umls:C0011053 Deafness 0.21 2 Biomarker CTD_human 83715 ESPN espin umls:C0042594 Vestibular Diseases 0.21 1 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C0015799 Feminization 0.21 1 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C0017658 Glomerulonephritis 0.21 1 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C0025500 Mesothelioma 0.21 2 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 2099 ESR1 estrogen receptor 1 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0003811 Arrhythmias, Cardiac 0.21 1 Biomarker CTD_human 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2100 ESR2 estrogen receptor 2 (ER beta) umls:C0023869 Lithiasis 0.21 1 Biomarker CTD_human 2101 ESRRA estrogen-related receptor alpha umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 2108 ETFA electron-transfer-flavoprotein, alpha polypeptide umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 2108 ETFA electron-transfer-flavoprotein, alpha polypeptide umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 2110 ETFDH electron-transferring-flavoprotein dehydrogenase umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 619399 ETL2 epilepsy, familial temporal lobe umls:C1842564 Temporal epilepsy, familial 0.21 0 Biomarker CTD_human 100144434 ETL4 epilepsy, occipitotemporal lobe, and migraine with aura umls:C1968847 Epilepsy, Familial Temporal Lobe, 4 0.21 0 Biomarker CTD_human 2112 ETM2 essential tremor 2 umls:C1865810 Tremor hereditary essential, 2 0.21 0 Biomarker CTD_human 55500 ETNK1 ethanolamine kinase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2113 ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1 umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 2114 ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2114 ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 2114 ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 2120 ETV6 ets variant 6 umls:C1851585 Myeloproliferative Disorder, Chronic, with Eosinophilia 0.21 0 Biomarker CTD_human 2120 ETV6 ets variant 6 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2123 EVI2A ecotropic viral integration site 2A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2124 EVI2B ecotropic viral integration site 2B umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 81864 EVR3 exudative vitreoretinopathy 3 umls:C1854002 Exudative Vitreoretinopathy 3 0.21 0 Biomarker CTD_human 9156 EXO1 exonuclease 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 23404 EXOSC2 exosome component 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 23404 EXOSC2 exosome component 2 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 56915 EXOSC5 exosome component 5 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 56915 EXOSC5 exosome component 5 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 2133 EXT3 exostoses (multiple) 3 umls:C1838420 Exostoses, Multiple, Type III 0.21 0 Biomarker CTD_human 2138 EYA1 EYA transcriptional coactivator and phosphatase 1 umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 2070 EYA4 EYA transcriptional coactivator and phosphatase 4 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 0.21 1 Biomarker CTD_human 2146 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit umls:C1301355 Myelodysplastic-Myeloproliferative Diseases 0.21 1 Biomarker CTD_human 7430 EZR ezrin umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7430 EZR ezrin umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7430 EZR ezrin umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 2159 F10 coagulation factor X umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 2160 F11 coagulation factor XI umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 2161 F12 coagulation factor XII (Hageman factor) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2161 F12 coagulation factor XII (Hageman factor) umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2162 F13A1 coagulation factor XIII, A1 polypeptide umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 2147 F2 coagulation factor II (thrombin) umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 2147 F2 coagulation factor II (thrombin) umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 2147 F2 coagulation factor II (thrombin) umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 2147 F2 coagulation factor II (thrombin) umls:C0030524 Paratuberculosis 0.21 1 Biomarker CTD_human 2147 F2 coagulation factor II (thrombin) umls:C0162819 Skin Diseases, Vascular 0.21 1 Biomarker CTD_human 2149 F2R coagulation factor II (thrombin) receptor umls:C0015695 Fatty Liver 0.21 3 Biomarker CTD_human 2149 F2R coagulation factor II (thrombin) receptor umls:C0019158 Hepatitis 0.21 1 Biomarker CTD_human 2149 F2R coagulation factor II (thrombin) receptor umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2149 F2R coagulation factor II (thrombin) receptor umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 2150 F2RL1 coagulation factor II (thrombin) receptor-like 1 umls:C0017160 Gastroenteritis 0.21 1 Biomarker CTD_human 2150 F2RL1 coagulation factor II (thrombin) receptor-like 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 2150 F2RL1 coagulation factor II (thrombin) receptor-like 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2150 F2RL1 coagulation factor II (thrombin) receptor-like 1 umls:C0033774 Pruritus 0.21 1 Biomarker CTD_human 9002 F2RL3 coagulation factor II (thrombin) receptor-like 3 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 9002 F2RL3 coagulation factor II (thrombin) receptor-like 3 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 9002 F2RL3 coagulation factor II (thrombin) receptor-like 3 umls:C0030781 Peliosis Hepatis 0.21 1 Biomarker CTD_human 2152 F3 coagulation factor III (thromboplastin, tissue factor) umls:C0034155 Purpura, Thrombotic Thrombocytopenic 0.21 1 Biomarker CTD_human 2152 F3 coagulation factor III (thromboplastin, tissue factor) umls:C0042487 Venous Thrombosis 0.21 1 Biomarker CTD_human 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C0338575 Sagittal Sinus Thrombosis 0.21 1 Biomarker CTD_human 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0012644 Disease Models, Animal 0.21 1 Therapeutic CTD_human 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0012739 Disseminated Intravascular Coagulation 0.21 1 Biomarker CTD_human 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0749098 Hematoma, Subdural, Acute 0.21 1 Therapeutic CTD_human 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0018965 Hematuria 0.21 1 Therapeutic CTD_human 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0151699 Intracranial Hemorrhages 0.21 5 Therapeutic CTD_human 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0273058 Intracranial Hemorrhage, Traumatic 0.21 1 Therapeutic CTD_human 2155 F7 coagulation factor VII (serum prothrombin conversion accelerator) umls:C0032787 Postoperative Complications 0.21 1 Therapeutic CTD_human 2157 F8 coagulation factor VIII, procoagulant component umls:C0272325 Factor 8 deficiency, acquired 0.21 1 Therapeutic CTD_human 2158 F9 coagulation factor IX umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 2166 FAAH fatty acid amide hydrolase umls:C0032962 Pregnancy Complications 0.21 1 Biomarker CTD_human 2166 FAAH fatty acid amide hydrolase umls:C0236969 Substance-Related Disorders 0.21 2 Biomarker CTD_human 158584 FAAH2 fatty acid amide hydrolase 2 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 2168 FABP1 fatty acid binding protein 1, liver umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 2168 FABP1 fatty acid binding protein 1, liver umls:C0022672 Kidney Tubular Necrosis, Acute 0.21 1 Therapeutic CTD_human 2168 FABP1 fatty acid binding protein 1, liver umls:C0023794 Lipidoses 0.21 2 Biomarker CTD_human 2170 FABP3 fatty acid binding protein 3, muscle and heart umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 2170 FABP3 fatty acid binding protein 3, muscle and heart umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 2167 FABP4 fatty acid binding protein 4, adipocyte umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2167 FABP4 fatty acid binding protein 4, adipocyte umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2171 FABP5 fatty acid binding protein 5 (psoriasis-associated) umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 2171 FABP5 fatty acid binding protein 5 (psoriasis-associated) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2173 FABP7 fatty acid binding protein 7, brain umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 2173 FABP7 fatty acid binding protein 7, brain umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 8772 FADD Fas (TNFRSF6)-associated via death domain umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 8772 FADD Fas (TNFRSF6)-associated via death domain umls:C0018784 Hearing Loss, Sensorineural 0.21 1 Biomarker CTD_human 8772 FADD Fas (TNFRSF6)-associated via death domain umls:C0038368 Stomatognathic Diseases 0.21 1 Biomarker CTD_human 3992 FADS1 fatty acid desaturase 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 3992 FADS1 fatty acid desaturase 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 9415 FADS2 fatty acid desaturase 2 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 9415 FADS2 fatty acid desaturase 2 umls:C0023794 Lipidoses 0.21 1 Biomarker CTD_human 23197 FAF2 Fas associated factor family member 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 54491 FAM105A family with sequence similarity 105, member A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 11170 FAM107A family with sequence similarity 107, member A umls:C0017638 Glioma 0.21 1 Biomarker CTD_human 374393 FAM111B family with sequence similarity 111, member B umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 84668 FAM126A family with sequence similarity 126, member A umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 84668 FAM126A family with sequence similarity 126, member A umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 84668 FAM126A family with sequence similarity 126, member A umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 285172 FAM126B family with sequence similarity 126, member B umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 54463 FAM134B family with sequence similarity 134, member B umls:C0027889 Hereditary Sensory and Autonomic Neuropathies 0.21 1 Biomarker CTD_human 10144 FAM13A family with sequence similarity 13, member A umls:C1800706 Idiopathic Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 57700 FAM160B1 family with sequence similarity 160, member B1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 23201 FAM168A family with sequence similarity 168, member A umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 23201 FAM168A family with sequence similarity 168, member A umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 389558 FAM180A family with sequence similarity 180, member A umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 79632 FAM184A family with sequence similarity 184, member A umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 27146 FAM184B family with sequence similarity 184, member B umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 51313 FAM198B family with sequence similarity 198, member B umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 151647 FAM19A4 family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 125228 FAM210A family with sequence similarity 210, member A umls:C0016658 Fractures, Bone 0.21 1 Biomarker CTD_human 29902 FAM216A family with sequence similarity 216, member A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 60343 FAM3A family with sequence similarity 3, member A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 131177 FAM3D family with sequence similarity 3, member D umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 81553 FAM49A family with sequence similarity 49, member A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 51571 FAM49B family with sequence similarity 49, member B umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 54478 FAM64A family with sequence similarity 64, member A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 286077 FAM83H family with sequence similarity 83, member H umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 151354 FAM84A family with sequence similarity 84, member A umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 100529229 FAME3 Epilepsy, familial adult myoclonic, 3 umls:C3150860 Epilepsy, Familial Adult Myoclonic, 3 0.21 0 Biomarker CTD_human 22909 FAN1 FANCD2/FANCI-associated nuclease 1 umls:C2931118 Megalocytic interstitial nephritis 0.21 1 Biomarker CTD_human 2175 FANCA Fanconi anemia, complementation group A umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2175 FANCA Fanconi anemia, complementation group A umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 2175 FANCA Fanconi anemia, complementation group A umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 2189 FANCG Fanconi anemia, complementation group G umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 55215 FANCI Fanconi anemia, complementation group I umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55215 FANCI Fanconi anemia, complementation group I umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2191 FAP fibroblast activation protein, alpha umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10160 FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 9855 FARP2 FERM, RhoGEF and pleckstrin domain protein 2 umls:C2931817 Chromosome 2q37 deletion syndrome 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0242488 Acute Lung Injury 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0878544 Cardiomyopathies 0.21 3 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0018939 Hematologic Diseases 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0020532 Hypersplenism 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0024535 Malaria, Falciparum 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0026896 Myasthenia Gravis 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0032963 Pregnancy Complications, Cardiovascular 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0039338 Taste Disorders 0.21 1 Biomarker CTD_human 355 FAS Fas cell surface death receptor umls:C0242698 Ventricular Dysfunction, Left 0.21 1 Biomarker CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0242488 Acute Lung Injury 0.21 1 Biomarker CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0007193 Cardiomyopathy, Dilated 0.21 1 Biomarker CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0007273 Carotid Artery Diseases 0.21 1 Biomarker CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0020474 Hyperlipidemia, Familial Combined 0.21 1 Biomarker CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0162557 Liver Failure, Acute 0.21 1 Biomarker CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0033578 Prostatic Neoplasms 0.21 1 Therapeutic CTD_human 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C0039584 Testicular Diseases 0.21 1 Biomarker CTD_human 2194 FASN fatty acid synthase umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 2194 FASN fatty acid synthase umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 22868 FASTKD2 FAST kinase domains 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 60493 FASTKD5 FAST kinase domains 5 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 2195 FAT1 FAT atypical cadherin 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2195 FAT1 FAT atypical cadherin 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 2195 FAT1 FAT atypical cadherin 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 2195 FAT1 FAT atypical cadherin 1 umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 2195 FAT1 FAT atypical cadherin 1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 2196 FAT2 FAT atypical cadherin 2 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 120114 FAT3 FAT atypical cadherin 3 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 79633 FAT4 FAT atypical cadherin 4 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 79633 FAT4 FAT atypical cadherin 4 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 79633 FAT4 FAT atypical cadherin 4 umls:C1842563 Heterotopia, Periventricular, Autosomal Recessive 0.21 1 Biomarker CTD_human 79633 FAT4 FAT atypical cadherin 4 umls:C1691228 Kidney Diseases, Cystic 0.21 1 Biomarker CTD_human 79633 FAT4 FAT atypical cadherin 4 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 89885 FATE1 fetal and adult testis expressed 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 2091 FBL fibrillarin umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 2192 FBLN1 fibulin 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 2192 FBLN1 fibulin 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2192 FBLN1 fibulin 1 umls:C1842422 Synpolydactyly 2 0.21 0 Biomarker CTD_human 2199 FBLN2 fibulin 2 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 2199 FBLN2 fibulin 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 10516 FBLN5 fibulin 5 umls:C3276539 CUTIS LAXA, AUTOSOMAL DOMINANT 1 0.21 0 Biomarker CTD_human 10516 FBLN5 fibulin 5 umls:C0013990 Emphysema 0.21 1 Biomarker CTD_human 10516 FBLN5 fibulin 5 umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 10516 FBLN5 fibulin 5 umls:C0020542 Hypertension, Pulmonary 0.21 1 Biomarker CTD_human 10516 FBLN5 fibulin 5 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10516 FBLN5 fibulin 5 umls:C0035229 Respiratory Insufficiency 0.21 1 Biomarker CTD_human 10516 FBLN5 fibulin 5 umls:C0035243 Respiratory Tract Infections 0.21 1 Biomarker CTD_human 10516 FBLN5 fibulin 5 umls:C0042373 Vascular Diseases 0.21 1 Biomarker CTD_human 2200 FBN1 fibrillin 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 2201 FBN2 fibrillin 2 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 2203 FBP1 fructose-1,6-bisphosphatase 1 umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 2203 FBP1 fructose-1,6-bisphosphatase 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 26235 FBXL4 F-box and leucine-rich repeat protein 4 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23014 FBXO21 F-box protein 21 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 51725 FBXO40 F-box protein 40 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 93611 FBXO44 F-box protein 44 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 93611 FBXO44 F-box protein 44 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 55294 FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 55294 FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 2205 FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 2205 FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide umls:C0013182 Drug Hypersensitivity 0.21 2 Biomarker CTD_human 2207 FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 2208 FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) umls:C0020523 Hypersensitivity, Immediate 0.21 1 Biomarker CTD_human 8857 FCGBP Fc fragment of IgG binding protein umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 2209 FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 2209 FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 2212 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) umls:C1527336 Sjogren's Syndrome 0.21 1 Biomarker CTD_human 2213 FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) umls:C0027947 Neutropenia 0.21 1 Biomarker CTD_human 9103 FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2215 FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 2215 FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) umls:C3495801 Granulomatosis with Polyangiitis 0.21 1 Biomarker CTD_human 50968 FCMTE1 familial cortical myoclonic tremor with epilepsy 1 umls:C1832841 Epilepsy, Myoclonic, Benign Adult Familial, Type 1 0.21 0 Biomarker CTD_human 554188 FCMTE2 familial cortical myoclonic tremor with epilepsy 2 umls:C1842852 Epilepsy, Myoclonic, Benign Adult Familial, Type 2 0.21 0 Biomarker CTD_human 8547 FCN3 ficolin (collagen/fibrinogen domain containing) 3 umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 2222 FDFT1 farnesyl-diphosphate farnesyltransferase 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 2222 FDFT1 farnesyl-diphosphate farnesyltransferase 1 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2222 FDFT1 farnesyl-diphosphate farnesyltransferase 1 umls:C0024809 Marijuana Abuse 0.21 1 Biomarker CTD_human 2222 FDFT1 farnesyl-diphosphate farnesyltransferase 1 umls:C0031391 Phencyclidine Abuse 0.21 1 Biomarker CTD_human 2233 FEB1 febrile convulsions 1 umls:C3501856 Febrile Convulsions, Familial, 1 0.21 0 Biomarker CTD_human 100271923 FEB10 Febrile convulsions, familial, 10 umls:C2675251 Febrile Convulsions, Familial, 10 0.21 0 Biomarker CTD_human 2234 FEB2 febrile convulsions 2 umls:C1865342 Febrile Convulsions, Familial, 2 0.21 0 Biomarker CTD_human 619398 FEB5 febrile convulsions 5 umls:C1836507 Febrile Convulsions, Familial, 5 0.21 0 Biomarker CTD_human 619397 FEB6 febrile convulsions 6 umls:C1836518 Febrile Convulsions, Familial, 6 0.21 0 Biomarker CTD_human 100049160 FEB7 febrile convulsions 7 umls:C1969087 Febrile Convulsions, Familial, 7 0.21 0 Biomarker CTD_human 100188849 FEB9 Febrile convulsions, familial, 9 umls:C1968846 Febrile Convulsions, Familial, 9 0.21 0 Biomarker CTD_human 100188278 FECD2 corneal dystrophy, Fuchs endothelial 2 umls:C1857800 Corneal dystrophy, Fuchs' endothelial, 2 0.21 0 Biomarker CTD_human 100380873 FECD3 Corneal dystrophy, Fuchs endothelial, 3 umls:C2750451 Corneal Dystrophy, Fuchs Endothelial, 3 0.21 0 Biomarker CTD_human 100380874 FECD5 Corneal dystrophy, Fuchs endothelial, 5 umls:C2750449 Corneal Dystrophy, Fuchs Endothelial, 5 0.21 0 Biomarker CTD_human 100380875 FECD7 Corneal dystrophy, Fuchs endothelial, 7 umls:C2750447 Corneal Dystrophy, Fuchs Endothelial, 7 0.21 0 Biomarker CTD_human 2235 FECH ferrochelatase umls:C0005395 Bile Duct Diseases 0.21 1 Biomarker CTD_human 2235 FECH ferrochelatase umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 2237 FEN1 flap structure-specific endonuclease 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10979 FERMT2 fermitin family member 2 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 83706 FERMT3 fermitin family member 3 umls:C0005818 Blood Platelet Disorders 0.21 1 Biomarker CTD_human 83706 FERMT3 fermitin family member 3 umls:C0019080 Hemorrhage 0.21 1 Biomarker CTD_human 83706 FERMT3 fermitin family member 3 umls:C0029454 Osteopetrosis 0.21 1 Biomarker CTD_human 26998 FETUB fetuin B umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 54738 FEV FEV (ETS oncogene family) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 9637 FEZ2 fasciculation and elongation protein zeta 2 (zygin II) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 9637 FEZ2 fasciculation and elongation protein zeta 2 (zygin II) umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 2243 FGA fibrinogen alpha chain umls:C0740340 Amyloidosis, Familial 0.21 2 Biomarker CTD_human 2243 FGA fibrinogen alpha chain umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 2243 FGA fibrinogen alpha chain umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 2243 FGA fibrinogen alpha chain umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 2243 FGA fibrinogen alpha chain umls:C0022658 Kidney Diseases 0.21 2 Biomarker CTD_human 2243 FGA fibrinogen alpha chain umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 2243 FGA fibrinogen alpha chain umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 2243 FGA fibrinogen alpha chain umls:C0398623 Thrombophilia 0.21 1 Biomarker CTD_human 2244 FGB fibrinogen beta chain umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 2244 FGB fibrinogen beta chain umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 2245 FGD1 FYVE, RhoGEF and PH domain containing 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2245 FGD1 FYVE, RhoGEF and PH domain containing 1 umls:C0016508 Foot Deformities, Congenital 0.21 1 Biomarker CTD_human 2245 FGD1 FYVE, RhoGEF and PH domain containing 1 umls:C0018273 Growth Disorders 0.21 4 Biomarker CTD_human 2245 FGD1 FYVE, RhoGEF and PH domain containing 1 umls:C0497552 Nervous System Malformations 0.21 1 Biomarker CTD_human 2245 FGD1 FYVE, RhoGEF and PH domain containing 1 umls:C0042063 Urogenital Abnormalities 0.21 3 Biomarker CTD_human 221472 FGD2 FYVE, RhoGEF and PH domain containing 2 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 152273 FGD5 FYVE, RhoGEF and PH domain containing 5 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 2246 FGF1 fibroblast growth factor 1 (acidic) umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 2246 FGF1 fibroblast growth factor 1 (acidic) umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 2258 FGF13 fibroblast growth factor 13 umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 2259 FGF14 fibroblast growth factor 14 umls:C0007302 Cartilage Diseases 0.21 1 Biomarker CTD_human 8823 FGF16 fibroblast growth factor 16 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 8823 FGF16 fibroblast growth factor 16 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 8817 FGF18 fibroblast growth factor 18 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 8817 FGF18 fibroblast growth factor 18 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0751955 Brain Infarction 0.21 1 Therapeutic CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0270611 Brain Injuries 0.21 1 Therapeutic CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0014549 Epilepsy, Tonic-Clonic 0.21 1 Biomarker CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0017639 Gliosis 0.21 1 Therapeutic CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0033054 Prenatal Exposure Delayed Effects 0.21 1 Biomarker CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 2247 FGF2 fibroblast growth factor 2 (basic) umls:C0040028 Thrombocythemia, Essential 0.21 1 Biomarker CTD_human 26281 FGF20 fibroblast growth factor 20 umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 26291 FGF21 fibroblast growth factor 21 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Therapeutic CTD_human 26291 FGF21 fibroblast growth factor 21 umls:C0011854 Diabetes Mellitus, Type 1 0.21 1 Therapeutic CTD_human 2248 FGF3 fibroblast growth factor 3 umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 2248 FGF3 fibroblast growth factor 3 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2248 FGF3 fibroblast growth factor 3 umls:C0018784 Hearing Loss, Sensorineural 0.21 1 Biomarker CTD_human 2248 FGF3 fibroblast growth factor 3 umls:C0038368 Stomatognathic Diseases 0.21 1 Biomarker CTD_human 2251 FGF6 fibroblast growth factor 6 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 2252 FGF7 fibroblast growth factor 7 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 2252 FGF7 fibroblast growth factor 7 umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 2252 FGF7 fibroblast growth factor 7 umls:C0017566 Gingival Hyperplasia 0.21 1 Biomarker CTD_human 2252 FGF7 fibroblast growth factor 7 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 2252 FGF7 fibroblast growth factor 7 umls:C0273115 Lung Injury 0.21 1 Therapeutic CTD_human 2252 FGF7 fibroblast growth factor 7 umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 2253 FGF8 fibroblast growth factor 8 (androgen-induced) umls:C0243050 Cardiovascular Abnormalities 0.21 1 Biomarker CTD_human 2253 FGF8 fibroblast growth factor 8 (androgen-induced) umls:C0008924 Cleft Lip 0.21 1 Biomarker CTD_human 2253 FGF8 fibroblast growth factor 8 (androgen-induced) umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 2254 FGF9 fibroblast growth factor 9 umls:C0008924 Cleft Lip 0.21 1 Biomarker CTD_human 2254 FGF9 fibroblast growth factor 9 umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 2254 FGF9 fibroblast growth factor 9 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C2936791 antley-bixler syndrome 0.21 0 Biomarker CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0342384 Idiopathic Hypogonadotropic Hypogonadism 0.21 0 Biomarker CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 2260 FGFR1 fibroblast growth factor receptor 1 umls:C2931888 Pfeiffer type acrocephalosyndactyly 0.21 0 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0003090 Ankylosis 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C2350233 Antley-Bixler Syndrome Phenotype 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0006435 Burns, Chemical 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0008924 Cleft Lip 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0018553 Hamartoma Syndrome, Multiple 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0026613 Motor Skills Disorders 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C2931888 Pfeiffer type acrocephalosyndactyly 0.21 0 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C1450010 Plagiocephaly, Nonsynostotic 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0037268 Skin Abnormalities 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0080178 Spinal Dysraphism 0.21 1 Biomarker CTD_human 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0040427 Tooth Abnormalities 0.21 1 Biomarker CTD_human 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0008924 Cleft Lip 0.21 1 Biomarker CTD_human 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 2264 FGFR4 fibroblast growth factor receptor 4 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2264 FGFR4 fibroblast growth factor receptor 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2266 FGG fibrinogen gamma chain umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 2266 FGG fibrinogen gamma chain umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 10875 FGL2 fibrinogen-like 2 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 780900 FGS5 FG syndrome 5 umls:C1845119 Fg Syndrome 5 0.21 0 Biomarker CTD_human 550626 FHASD Foveal hypoplasia and anterior segment dysgenesis umls:C1836603 Foveal Hypoplasia and Anterior Segment Dysgenesis 0.21 0 Biomarker CTD_human 79179 FHII Hyperaldosteronism, familial, type II umls:C1854107 Hyperaldosteronism, Familial, Type II 0.21 0 Biomarker CTD_human 2272 FHIT fragile histidine triad umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 2272 FHIT fragile histidine triad umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2272 FHIT fragile histidine triad umls:C0042076 Urologic Neoplasms 0.21 1 Biomarker CTD_human 9457 FHL5 four and a half LIM domains 5 umls:C0149931 Migraine Disorders 0.21 1 Biomarker CTD_human 80206 FHOD3 formin homology 2 domain containing 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2277 FIGF c-fos induced growth factor (vascular endothelial growth factor D) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 27145 FILIP1 filamin A interacting protein 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 619503 FIQTL1 fasting glucose and specific insulin levels umls:C2676369 FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 0.21 0 Biomarker CTD_human 51024 FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.21 1 Biomarker CTD_human 60681 FKBP10 FK506 binding protein 10, 65 kDa umls:C1853147 Macular Degeneration, Age-Related, 4 0.21 0 Biomarker CTD_human 23307 FKBP15 FK506 binding protein 15, 133kDa umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 23307 FKBP15 FK506 binding protein 15, 133kDa umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2280 FKBP1A FK506 binding protein 1A, 12kDa umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 2286 FKBP2 FK506 binding protein 2, 13kDa umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 2286 FKBP2 FK506 binding protein 2, 13kDa umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 2289 FKBP5 FK506 binding protein 5 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 2289 FKBP5 FK506 binding protein 5 umls:C0021290 Infant, Newborn, Diseases 0.21 1 Biomarker CTD_human 2289 FKBP5 FK506 binding protein 5 umls:C0525041 Neurobehavioral Manifestations 0.21 1 Biomarker CTD_human 63943 FKBPL FK506 binding protein like umls:C1458155 Breast Neoplasms 0.21 1 Therapeutic CTD_human 100306940 FL1 Follicular lymphoma, susceptibility to, 1 umls:C0024301 Lymphoma, Follicular 0.21 0 Biomarker CTD_human 201163 FLCN folliculin umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 2312 FLG filaggrin umls:C1864155 Dermatitis, Atopic, 1 0.21 0 Biomarker CTD_human 2312 FLG filaggrin umls:C1853965 Dermatitis, Atopic, 2 0.21 0 Biomarker CTD_human 2313 FLI1 Fli-1 proto-oncogene, ETS transcription factor umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 2316 FLNA filamin A, alpha umls:C2746068 Congenital idiopathic intestinal pseudoobstruction 0.21 0 Biomarker CTD_human 2316 FLNA filamin A, alpha umls:C0029422 Osteochondrodysplasias 0.21 1 Biomarker CTD_human 2318 FLNC filamin C, gamma umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 23767 FLRT3 fibronectin leucine rich transmembrane protein 3 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 2321 FLT1 fms-related tyrosine kinase 1 umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 2321 FLT1 fms-related tyrosine kinase 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 2321 FLT1 fms-related tyrosine kinase 1 umls:C0018923 Hemangiosarcoma 0.21 1 Biomarker CTD_human 2321 FLT1 fms-related tyrosine kinase 1 umls:C0029422 Osteochondrodysplasias 0.21 1 Biomarker CTD_human 2321 FLT1 fms-related tyrosine kinase 1 umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 2322 FLT3 fms-related tyrosine kinase 3 umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 2324 FLT4 fms-related tyrosine kinase 4 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 56776 FMN2 formin 2 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 2326 FMO1 flavin containing monooxygenase 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 2327 FMO2 flavin containing monooxygenase 2 (non-functional) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 2327 FMO2 flavin containing monooxygenase 2 (non-functional) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2328 FMO3 flavin containing monooxygenase 3 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 2328 FMO3 flavin containing monooxygenase 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2332 FMR1 fragile X mental retardation 1 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 2332 FMR1 fragile X mental retardation 1 umls:C0282631 Facies 0.21 1 Biomarker CTD_human 2332 FMR1 fragile X mental retardation 1 umls:C0018051 Gonadal Dysgenesis 0.21 1 Biomarker CTD_human 100188848 FMTLE Epilepsy, familial mesial temporal lobe umls:C1968848 Epilepsy, Familial Mesial Temporal Lobe 0.21 0 Biomarker CTD_human 2335 FN1 fibronectin 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 2335 FN1 fibronectin 1 umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 2335 FN1 fibronectin 1 umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 2335 FN1 fibronectin 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2335 FN1 fibronectin 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 64838 FNDC4 fibronectin type III domain containing 4 umls:C0023794 Lipidoses 0.21 3 Biomarker CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0752109 Brain Diseases, Metabolic, Inborn 0.21 1 Biomarker CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0009375 Colonic Neoplasms 0.21 2 Biomarker CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 2348 FOLR1 folate receptor 1 (adult) umls:C0033922 Psychomotor Disorders 0.21 1 Biomarker CTD_human 2350 FOLR2 folate receptor 2 (fetal) umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0236736 Cocaine-Related Disorders 0.21 3 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0016063 Fibrous Dysplasia of Bone 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0019080 Hemorrhage 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0235032 Neurotoxicity Syndromes 0.21 1 Therapeutic CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0036572 Seizures 0.21 4 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0038220 Status Epilepticus 0.21 4 Biomarker CTD_human 2353 FOS FBJ murine osteosarcoma viral oncogene homolog umls:C0038587 Substance Withdrawal Syndrome 0.21 3 Biomarker CTD_human 2354 FOSB FBJ murine osteosarcoma viral oncogene homolog B umls:C0236736 Cocaine-Related Disorders 0.21 4 Biomarker, Therapeutic CTD_human 2354 FOSB FBJ murine osteosarcoma viral oncogene homolog B umls:C0013386 Dyskinesia, Drug-Induced 0.21 1 Biomarker CTD_human 2354 FOSB FBJ murine osteosarcoma viral oncogene homolog B umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 2354 FOSB FBJ murine osteosarcoma viral oncogene homolog B umls:C0021122 Impulse Control Disorders 0.21 1 Biomarker CTD_human 2354 FOSB FBJ murine osteosarcoma viral oncogene homolog B umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 8061 FOSL1 FOS-like antigen 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3170 FOXA2 forkhead box A2 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 3171 FOXA3 forkhead box A3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2296 FOXC1 forkhead box C1 umls:C3714873 AXENFELD-RIEGER SYNDROME, TYPE 1 0.21 1 Biomarker CTD_human 2296 FOXC1 forkhead box C1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2296 FOXC1 forkhead box C1 umls:C0087012 Spinocerebellar Ataxias 0.21 1 Biomarker CTD_human 2296 FOXC1 forkhead box C1 umls:C0039685 Tetralogy of Fallot 0.21 1 Biomarker CTD_human 2303 FOXC2 forkhead box C2 umls:C0243050 Cardiovascular Abnormalities 0.21 1 Biomarker CTD_human 2303 FOXC2 forkhead box C2 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 2303 FOXC2 forkhead box C2 umls:C0151491 Musculoskeletal Abnormalities 0.21 1 Biomarker CTD_human 2303 FOXC2 forkhead box C2 umls:C0039685 Tetralogy of Fallot 0.21 1 Biomarker CTD_human 2303 FOXC2 forkhead box C2 umls:C0221348 Yellow Nail Syndrome 0.21 0 Biomarker CTD_human 2294 FOXF1 forkhead box F1 umls:C2677362 Alveolar capillary dysplasia 0.21 0 Biomarker CTD_human 2294 FOXF1 forkhead box F1 umls:C0600260 Lung Diseases, Obstructive 0.21 1 Biomarker CTD_human 2294 FOXF1 forkhead box F1 umls:C0024899 Mastocytosis 0.21 1 Biomarker CTD_human 2290 FOXG1 forkhead box G1 umls:C0796147 Acrocallosal Syndrome 0.21 1 Biomarker CTD_human 2290 FOXG1 forkhead box G1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 2290 FOXG1 forkhead box G1 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 8928 FOXH1 forkhead box H1 umls:C0039685 Tetralogy of Fallot 0.21 1 Biomarker CTD_human 2299 FOXI1 forkhead box I1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 668 FOXL2 forkhead box L2 umls:C2931135 Blepharophimosis syndrome type 1 0.21 3 Biomarker CTD_human 668 FOXL2 forkhead box L2 umls:C1862264 Bpes With Duane Retraction Syndrome 0.21 1 Biomarker CTD_human 668 FOXL2 forkhead box L2 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 2305 FOXM1 forkhead box M1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2305 FOXM1 forkhead box M1 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2305 FOXM1 forkhead box M1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 2309 FOXO3 forkhead box O3 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2309 FOXO3 forkhead box O3 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 2309 FOXO3 forkhead box O3 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 2309 FOXO3 forkhead box O3 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 27086 FOXP1 forkhead box P1 umls:C0279628 Adenocarcinoma Of Esophagus 0.21 1 Biomarker CTD_human 27086 FOXP1 forkhead box P1 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 27086 FOXP1 forkhead box P1 umls:C0024232 Lymphatic Metastasis 0.21 1 Biomarker CTD_human 27086 FOXP1 forkhead box P1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 27086 FOXP1 forkhead box P1 umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 93986 FOXP2 forkhead box P2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 93986 FOXP2 forkhead box P2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 50943 FOXP3 forkhead box P3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 139628 FOXR2 forkhead box R2 umls:C0206727 Nerve Sheath Neoplasms 0.21 1 Biomarker CTD_human 55572 FOXRED1 FAD-dependent oxidoreductase domain containing 1 umls:C0023264 Leigh Disease 0.21 0 Biomarker CTD_human 55572 FOXRED1 FAD-dependent oxidoreductase domain containing 1 umls:C0162666 Mitochondrial Encephalomyopathies 0.21 1 Biomarker CTD_human 50987 FPEVF Epilepsy, partial, with variable foci umls:C1858477 Epilepsy, Partial, with Variable Foci 0.21 0 Biomarker CTD_human 8790 FPGT fucose-1-phosphate guanylyltransferase umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 2359 FPR3 formyl peptide receptor 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2448 FRA12A fragile site, folic acid type, rare, fra(12)(q13.1) umls:C1969893 Mental Retardation, Fra12a Type 0.21 0 Biomarker CTD_human 2420 FRDA2 Friedreich ataxia 2 umls:C1856689 Friedreich Ataxia 1 0.21 0 Biomarker CTD_human 2420 FRDA2 Friedreich ataxia 2 umls:C1865981 Friedreich Ataxia 2 0.21 0 Biomarker CTD_human 158326 FREM1 FRAS1 related extracellular matrix 1 umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 2444 FRK fyn-related Src family tyrosine kinase umls:C0271650 Glucose Intolerance 0.21 1 Biomarker CTD_human 257019 FRMD3 FERM domain containing 3 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 55691 FRMD4A FERM domain containing 4A umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 23150 FRMD4B FERM domain containing 4B umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 65211 FRTS1 Fanconi renotubular syndrome umls:C0015624 Fanconi Syndrome 0.21 0 Biomarker CTD_human 10129 FRY furry homolog (Drosophila) umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 10129 FRY furry homolog (Drosophila) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 79187 FSD1 fibronectin type III and SPRY domain containing 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 2488 FSHB follicle stimulating hormone, beta polypeptide umls:C0001973 Alcoholism 0.21 1 Biomarker CTD_human 2488 FSHB follicle stimulating hormone, beta polypeptide umls:C0002453 Amenorrhea 0.21 1 Biomarker CTD_human 2488 FSHB follicle stimulating hormone, beta polypeptide umls:C0015967 Fever 0.21 1 Biomarker CTD_human 2488 FSHB follicle stimulating hormone, beta polypeptide umls:C0020619 Hypogonadism 0.21 2 Biomarker, Therapeutic CTD_human 2488 FSHB follicle stimulating hormone, beta polypeptide umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 2488 FSHB follicle stimulating hormone, beta polypeptide umls:C0043019 Lateral Medullary Syndrome 0.21 1 Biomarker CTD_human 2489 FSHMD1A facioscapulohumeral muscular dystrophy 1A umls:C1834673 Facioscapulohumeral muscular dystrophy 1a 0.21 0 Biomarker CTD_human 2490 FSHMD1B facioscapulohumeral muscular dystrophy 1B umls:C1834671 Facioscapulohumeral Muscular Dystrophy 1B 0.21 0 Biomarker CTD_human 10468 FST follistatin umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 10468 FST follistatin umls:C0162557 Liver Failure, Acute 0.21 1 Biomarker CTD_human 10468 FST follistatin umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 11167 FSTL1 follistatin-like 1 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 11167 FSTL1 follistatin-like 1 umls:C0003504 Aortic Valve Insufficiency 0.21 1 Biomarker CTD_human 11167 FSTL1 follistatin-like 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 10841 FTCD formimidoyltransferase cyclodeaminase umls:C0006413 Burkitt Lymphoma 0.21 1 Biomarker CTD_human 2495 FTH1 ferritin, heavy polypeptide 1 umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 2495 FTH1 ferritin, heavy polypeptide 1 umls:C0017638 Glioma 0.21 1 Biomarker CTD_human 2495 FTH1 ferritin, heavy polypeptide 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 2495 FTH1 ferritin, heavy polypeptide 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 2495 FTH1 ferritin, heavy polypeptide 1 umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 2495 FTH1 ferritin, heavy polypeptide 1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 2512 FTL ferritin, light polypeptide umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 2512 FTL ferritin, light polypeptide umls:C0751870 Heredodegenerative Disorders, Nervous System 0.21 1 Biomarker CTD_human 2512 FTL ferritin, light polypeptide umls:C0012715 Iron Metabolism Disorders 0.21 1 Biomarker CTD_human 2512 FTL ferritin, light polypeptide umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 2512 FTL ferritin, light polypeptide umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 2512 FTL ferritin, light polypeptide umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 2512 FTL ferritin, light polypeptide umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 79068 FTO fat mass and obesity associated umls:C0005910 Body Weight 0.21 2 Biomarker CTD_human 79068 FTO fat mass and obesity associated umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5045 FURIN furin (paired basic amino acid cleaving enzyme) umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 5045 FURIN furin (paired basic amino acid cleaving enzyme) umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 2524 FUT2 fucosyltransferase 2 (secretor status included) umls:C0162677 Caliciviridae Infections 0.21 1 Biomarker CTD_human 2524 FUT2 fucosyltransferase 2 (secretor status included) umls:C2674252 VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 0.21 0 Biomarker CTD_human 2526 FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2526 FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 2528 FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2529 FUT7 fucosyltransferase 7 (alpha (1,3) fucosyltransferase) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 100529224 FWS Forsythe-Wakeling syndrome umls:C3150859 FORSYTHE-WAKELING SYNDROME 0.21 0 Biomarker CTD_human 486 FXYD2 FXYD domain containing ion transport regulator 2 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 486 FXYD2 FXYD domain containing ion transport regulator 2 umls:C0268448 Hypomagnesemia primary 0.21 1 Biomarker CTD_human 486 FXYD2 FXYD domain containing ion transport regulator 2 umls:C0024473 Magnesium Deficiency 0.21 1 Biomarker CTD_human 53826 FXYD6 FXYD domain containing ion transport regulator 6 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 2533 FYB FYN binding protein umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 2534 FYN FYN proto-oncogene, Src family tyrosine kinase umls:C0007370 Catalepsy 0.21 1 Biomarker CTD_human 2534 FYN FYN proto-oncogene, Src family tyrosine kinase umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 2535 FZD2 frizzled class receptor 2 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 8322 FZD4 frizzled class receptor 4 umls:C0003706 Arachnodactyly 0.21 1 Biomarker CTD_human 8322 FZD4 frizzled class receptor 4 umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 8322 FZD4 frizzled class receptor 4 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 8322 FZD4 frizzled class receptor 4 umls:C0039075 Syndactyly 0.21 1 Biomarker CTD_human 50486 G0S2 G0/G1 switch 2 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 50486 G0S2 G0/G1 switch 2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 50486 G0S2 G0/G1 switch 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 10146 G3BP1 GTPase activating protein (SH3 domain) binding protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2539 G6PD glucose-6-phosphate dehydrogenase umls:C2609414 Acute Kidney Injury 0.21 3 Biomarker CTD_human 2539 G6PD glucose-6-phosphate dehydrogenase umls:C0031306 Phagocyte Bactericidal Dysfunction 0.21 1 Biomarker CTD_human 2548 GAA glucosidase, alpha; acid umls:C0017665 Glomerulonephritis, Membranous 0.21 1 Biomarker CTD_human 2548 GAA glucosidase, alpha; acid umls:C0242973 Ventricular Dysfunction 0.21 1 Biomarker CTD_human 9846 GAB2 GRB2-associated binding protein 2 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 2550 GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2550 GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 2553 GABPB1 GA binding protein transcription factor, beta subunit 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C0004134 Ataxia 0.21 1 Biomarker CTD_human 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 2555 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker CTD_human 2555 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 umls:C0019337 Heroin Dependence 0.21 1 Biomarker CTD_human 2556 GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 2557 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 umls:C0004134 Ataxia 0.21 1 Biomarker CTD_human 2558 GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 2558 GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 2562 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 2562 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 2562 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2562 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 umls:C0021603 Sleep Initiation and Maintenance Disorders 0.21 1 Biomarker CTD_human 2563 GABRD gamma-aminobutyric acid (GABA) A receptor, delta umls:C0270850 Epilepsy, Idiopathic Generalized 0.21 0 Biomarker CTD_human 2563 GABRD gamma-aminobutyric acid (GABA) A receptor, delta umls:C1858672 Generalized Epilepsy With Febrile Seizures Plus, Type 1 0.21 0 Biomarker CTD_human 2563 GABRD gamma-aminobutyric acid (GABA) A receptor, delta umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C1858672 Generalized Epilepsy With Febrile Seizures Plus, Type 1 0.21 0 Biomarker CTD_human 2567 GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 2570 GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 2570 GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 2571 GAD1 glutamate decarboxylase 1 (brain, 67kDa) umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2571 GAD1 glutamate decarboxylase 1 (brain, 67kDa) umls:C0013386 Dyskinesia, Drug-Induced 0.21 1 Biomarker CTD_human 2571 GAD1 glutamate decarboxylase 1 (brain, 67kDa) umls:C0020514 Hyperprolactinemia 0.21 1 Biomarker CTD_human 2571 GAD1 glutamate decarboxylase 1 (brain, 67kDa) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2572 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2572 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) umls:C0011884 Diabetic Retinopathy 0.21 1 Biomarker CTD_human 1647 GADD45A growth arrest and DNA-damage-inducible, alpha umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 1647 GADD45A growth arrest and DNA-damage-inducible, alpha umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 1647 GADD45A growth arrest and DNA-damage-inducible, alpha umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 1647 GADD45A growth arrest and DNA-damage-inducible, alpha umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4616 GADD45B growth arrest and DNA-damage-inducible, beta umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 4616 GADD45B growth arrest and DNA-damage-inducible, beta umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 339896 GADL1 glutamate decarboxylase-like 1 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 2543 GAGE1 G antigen 1 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 2543 GAGE1 G antigen 1 umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 26748 GAGE12I G antigen 12I umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2574 GAGE2C G antigen 2C umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2575 GAGE3 G antigen 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2576 GAGE4 G antigen 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2578 GAGE6 G antigen 6 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2579 GAGE7 G antigen 7 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 51083 GAL galanin/GMAP prepropeptide umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 51083 GAL galanin/GMAP prepropeptide umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 51083 GAL galanin/GMAP prepropeptide umls:C0027796 Neuralgia 0.21 1 Biomarker CTD_human 51083 GAL galanin/GMAP prepropeptide umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 2585 GALK2 galactokinase 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2588 GALNS galactosamine (N-acetyl)-6-sulfatase umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 2589 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 51809 GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2593 GAMT guanidinoacetate N-methyltransferase umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 2593 GAMT guanidinoacetate N-methyltransferase umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 2593 GAMT guanidinoacetate N-methyltransferase umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 8139 GAN gigaxonin umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2596 GAP43 growth associated protein 43 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 2596 GAP43 growth associated protein 43 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 54433 GAR1 GAR1 ribonucleoprotein umls:C0018939 Hematologic Diseases 0.21 1 Biomarker CTD_human 2620 GAS2 growth arrest-specific 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2620 GAS2 growth arrest-specific 2 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 10634 GAS2L1 growth arrest-specific 2 like 1 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 60674 GAS5 growth arrest-specific 5 (non-protein coding) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2621 GAS6 growth arrest-specific 6 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 2621 GAS6 growth arrest-specific 6 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2621 GAS6 growth arrest-specific 6 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 2621 GAS6 growth arrest-specific 6 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 8522 GAS7 growth arrest-specific 7 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2520 GAST gastrin umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 2520 GAST gastrin umls:C0017178 Gastrointestinal Diseases 0.21 1 Biomarker CTD_human 2520 GAST gastrin umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 2625 GATA3 GATA binding protein 3 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 2625 GATA3 GATA binding protein 3 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2625 GATA3 GATA binding protein 3 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2625 GATA3 GATA binding protein 3 umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 2626 GATA4 GATA binding protein 4 umls:C0018800 Cardiomegaly 0.21 2 Biomarker CTD_human 2626 GATA4 GATA binding protein 4 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 2627 GATA6 GATA binding protein 6 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 2627 GATA6 GATA binding protein 6 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 2628 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 2628 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 2628 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2628 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2628 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2628 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 2629 GBA glucosidase, beta, acid umls:C1856476 Gaucher Disease, Type Iiic 0.21 0 Biomarker CTD_human 57733 GBA3 glucosidase, beta, acid 3 (gene/pseudogene) umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2632 GBE1 glucan (1,4-alpha-), branching enzyme 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2633 GBP1 guanylate binding protein 1, interferon-inducible umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 2634 GBP2 guanylate binding protein 2, interferon-inducible umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2637 GBX2 gastrulation brain homeobox 2 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 2638 GC group-specific component (vitamin D binding protein) umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 2638 GC group-specific component (vitamin D binding protein) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 2638 GC group-specific component (vitamin D binding protein) umls:C0019151 Hepatic Encephalopathy 0.21 1 Biomarker CTD_human 2638 GC group-specific component (vitamin D binding protein) umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 2638 GC group-specific component (vitamin D binding protein) umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 2638 GC group-specific component (vitamin D binding protein) umls:C0036983 Shock, Septic 0.21 1 Biomarker CTD_human 2638 GC group-specific component (vitamin D binding protein) umls:C0043251 Wounds and Injuries 0.21 1 Biomarker CTD_human 79571 GCC1 GRIP and coiled-coil domain containing 1 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 79571 GCC1 GRIP and coiled-coil domain containing 1 umls:C0024809 Marijuana Abuse 0.21 1 Biomarker CTD_human 79571 GCC1 GRIP and coiled-coil domain containing 1 umls:C0031391 Phencyclidine Abuse 0.21 1 Biomarker CTD_human 282631 GCCD2 Glucocorticoid deficiency 2 umls:C1846284 Glucocorticoid Deficiency 2 0.21 0 Biomarker CTD_human 619477 GCCD3 glucocorticoid deficiency 3 umls:C1836621 Glucocorticoid Deficiency 3 0.21 0 Biomarker CTD_human 2641 GCG glucagon umls:C1879526 Aberrant Crypt Foci 0.21 1 Biomarker CTD_human 2641 GCG glucagon umls:C0428977 Bradycardia 0.21 5 Therapeutic CTD_human 2641 GCG glucagon umls:C0007370 Catalepsy 0.21 1 Biomarker CTD_human 2641 GCG glucagon umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 2641 GCG glucagon umls:C0009421 Coma 0.21 1 Therapeutic CTD_human 2641 GCG glucagon umls:C0009806 Constipation 0.21 1 Biomarker CTD_human 2641 GCG glucagon umls:C0018799 Heart Diseases 0.21 1 Therapeutic CTD_human 2641 GCG glucagon umls:C0018801 Heart Failure 0.21 1 Therapeutic CTD_human 2641 GCG glucagon umls:C0424295 Hyperkinesis 0.21 1 Therapeutic CTD_human 2641 GCG glucagon umls:C0020473 Hyperlipidemias 0.21 1 Therapeutic CTD_human 2641 GCG glucagon umls:C0020649 Hypotension 0.21 2 Therapeutic CTD_human 2641 GCG glucagon umls:C0020672 Hypothermia 0.21 1 Therapeutic CTD_human 2641 GCG glucagon umls:C0032343 Poisoning 0.21 1 Therapeutic CTD_human 2641 GCG glucagon umls:C0037763 Spasm 0.21 1 Biomarker CTD_human 2641 GCG glucagon umls:C0038354 Stomach Diseases 0.21 1 Therapeutic CTD_human 2641 GCG glucagon umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 2641 GCG glucagon umls:C0039239 Tachycardia, Sinus 0.21 1 Biomarker CTD_human 2641 GCG glucagon umls:C0042373 Vascular Diseases 0.21 1 Therapeutic CTD_human 2643 GCH1 GTP cyclohydrolase 1 umls:C0013386 Dyskinesia, Drug-Induced 0.21 1 Therapeutic CTD_human 2643 GCH1 GTP cyclohydrolase 1 umls:C0086439 Hypokinesia 0.21 1 Biomarker CTD_human 2643 GCH1 GTP cyclohydrolase 1 umls:C0026837 Muscle Rigidity 0.21 1 Biomarker CTD_human 2643 GCH1 GTP cyclohydrolase 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2645 GCK glucokinase (hexokinase 4) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 2729 GCLC glutamate-cysteine ligase, catalytic subunit umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 2729 GCLC glutamate-cysteine ligase, catalytic subunit umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 2729 GCLC glutamate-cysteine ligase, catalytic subunit umls:C0010074 Coronary Vessel Anomalies 0.21 1 Biomarker CTD_human 2729 GCLC glutamate-cysteine ligase, catalytic subunit umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 2729 GCLC glutamate-cysteine ligase, catalytic subunit umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2651 GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) umls:C0220721 CATARACT, CONGENITAL OR JUVENILE 0.21 0 Biomarker CTD_human 9615 GDA guanine deaminase umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 9615 GDA guanine deaminase umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 9615 GDA guanine deaminase umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2662 GDF10 growth differentiation factor 10 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 9518 GDF15 growth differentiation factor 15 umls:C0002896 Anemia, Sideroblastic 0.21 1 Biomarker CTD_human 9518 GDF15 growth differentiation factor 15 umls:C0017185 Gastrointestinal Neoplasms 0.21 1 Therapeutic CTD_human 9518 GDF15 growth differentiation factor 15 umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 9518 GDF15 growth differentiation factor 15 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 9518 GDF15 growth differentiation factor 15 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 9573 GDF3 growth differentiation factor 3 umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.21 1 Biomarker CTD_human 8200 GDF5 growth differentiation factor 5 umls:C1306065 DEVELOPMENTAL DYSPLASIA OF THE HIP 1 0.21 1 Biomarker CTD_human 392255 GDF6 growth differentiation factor 6 umls:C1852521 Spondylocostal Dysostosis 4, Autosomal Dominant 0.21 0 Biomarker CTD_human 2664 GDI1 GDP dissociation inhibitor 1 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 2664 GDI1 GDP dissociation inhibitor 1 umls:C0796208 Mental Retardation, X-Linked 3 0.21 0 Biomarker CTD_human 2665 GDI2 GDP dissociation inhibitor 2 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0236736 Cocaine-Related Disorders 0.21 2 Therapeutic CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C1275808 Congenital central hypoventilation syndrome 0.21 1 Biomarker CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0013386 Dyskinesia, Drug-Induced 0.21 1 Therapeutic CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0027854 Neurologic Manifestations 0.21 1 Therapeutic CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0028945 Oligodendroglioma 0.21 1 Biomarker CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0030569 Parkinson Disease, Secondary 0.21 1 Therapeutic CTD_human 2668 GDNF glial cell derived neurotrophic factor umls:C0038220 Status Epilepticus 0.21 2 Biomarker CTD_human 79153 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 umls:C0023794 Lipidoses 0.21 3 Biomarker CTD_human 100188796 GEFSP4 Epilepsy, generalized, with febrile seizures plus, type 4 umls:C1853345 Generalized Epilepsy With Febrile Seizures Plus, Type 4 0.21 0 Biomarker CTD_human 100190787 GEFSP6 Generalized epilepsy with febrile seizures plus, type 6 umls:C2677078 Generalized Epilepsy With Febrile Seizures Plus, Type 6 0.21 0 Biomarker CTD_human 51608 GET4 golgi to ER traffic protein 4 homolog (S. cerevisiae) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2670 GFAP glial fibrillary acidic protein umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 2670 GFAP glial fibrillary acidic protein umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.21 1 Biomarker CTD_human 2670 GFAP glial fibrillary acidic protein umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 2670 GFAP glial fibrillary acidic protein umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2670 GFAP glial fibrillary acidic protein umls:C0037917 Spina Bifida Cystica 0.21 1 Biomarker CTD_human 2671 GFER growth factor, augmenter of liver regeneration umls:C0392622 Carbon Tetrachloride Poisoning 0.21 1 Therapeutic CTD_human 2672 GFI1 growth factor independent 1 transcription repressor umls:C1859966 Neutropenia, Severe Congenital, Autosomal Dominant 1 0.21 0 Biomarker CTD_human 2672 GFI1 growth factor independent 1 transcription repressor umls:C0087012 Spinocerebellar Ataxias 0.21 1 Biomarker CTD_human 2674 GFRA1 GDNF family receptor alpha 1 umls:C0027796 Neuralgia 0.21 1 Biomarker CTD_human 2678 GGT1 gamma-glutamyltransferase 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2678 GGT1 gamma-glutamyltransferase 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2678 GGT1 gamma-glutamyltransferase 1 umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 2688 GH1 growth hormone 1 umls:C0242528 Azotemia 0.21 1 Biomarker CTD_human 2688 GH1 growth hormone 1 umls:C0018273 Growth Disorders 0.21 1 Therapeutic CTD_human 2688 GH1 growth hormone 1 umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 2688 GH1 growth hormone 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 2688 GH1 growth hormone 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 2688 GH1 growth hormone 1 umls:C0032461 Polycythemia 0.21 1 Biomarker CTD_human 2688 GH1 growth hormone 1 umls:C1858656 Short Stature, Idiopathic, Autosomal 0.21 0 Biomarker CTD_human 2688 GH1 growth hormone 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 2689 GH2 growth hormone 2 umls:C0175693 Silver-Russell Syndrome 0.21 1 Biomarker CTD_human 2690 GHR growth hormone receptor umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 2690 GHR growth hormone receptor umls:C0745103 HYPERCHOLESTEROLEMIA, FAMILIAL 0.21 0 Biomarker CTD_human 2690 GHR growth hormone receptor umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2690 GHR growth hormone receptor umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2691 GHRH growth hormone releasing hormone umls:C0034063 Pulmonary Edema 0.21 1 Therapeutic CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0009319 Colitis 0.21 1 Therapeutic CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0009324 Colitis, Ulcerative 0.21 1 Biomarker CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0027794 Neural Tube Defects 0.21 1 Therapeutic CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0035126 Reperfusion Injury 0.21 1 Therapeutic CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0036572 Seizures 0.21 1 Therapeutic CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0038358 Stomach Ulcer 0.21 2 Therapeutic CTD_human 51738 GHRL ghrelin/obestatin prepropeptide umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 7971 GHS Goldenhar syndrome umls:C0265240 Goldenhar Syndrome 0.21 0 Biomarker CTD_human 2693 GHSR growth hormone secretagogue receptor umls:C0012243 Digestive System Neoplasms 0.21 1 Biomarker CTD_human 2694 GIF gastric intrinsic factor (vitamin B synthesis) umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 64644 GINGF2 gingival fibromatosis, hereditary, 2 umls:C1854181 Fibromatosis, Gingival, 2 0.21 0 Biomarker CTD_human 780916 GINGF3 gingival fibromatosis, hereditary, 3 umls:C1864960 Fibromatosis, gingival, 3 0.21 0 Biomarker CTD_human 100124414 GINGF4 gingival fibromatosis, hereditary, 4 umls:C1970245 Fibromatosis, Gingival, 4 0.21 0 Biomarker CTD_human 9837 GINS1 GINS complex subunit 1 (Psf1 homolog) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 51659 GINS2 GINS complex subunit 2 (Psf2 homolog) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 51659 GINS2 GINS complex subunit 2 (Psf2 homolog) umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 2696 GIPR gastric inhibitory polypeptide receptor umls:C0005910 Body Weight 0.21 1 Biomarker CTD_human 2696 GIPR gastric inhibitory polypeptide receptor umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 28964 GIT1 G protein-coupled receptor kinase interacting ArfGAP 1 umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 28964 GIT1 G protein-coupled receptor kinase interacting ArfGAP 1 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0001430 Adenoma 0.21 1 Biomarker CTD_human 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0010051 Coronary Aneurysm 0.21 1 Biomarker CTD_human 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0019284 Hernia, Diaphragmatic 0.21 2 Biomarker CTD_human 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 2697 GJA1 gap junction protein, alpha 1, 43kDa umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 2702 GJA5 gap junction protein, alpha 5, 40kDa umls:C1843687 Atrial fibrillation, familial 1 0.21 0 Biomarker CTD_human 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0001430 Adenoma 0.21 1 Biomarker CTD_human 2705 GJB1 gap junction protein, beta 1, 32kDa umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0007642 Cellulitis 0.21 1 Biomarker CTD_human 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0162836 Hidradenitis Suppurativa 0.21 1 Biomarker CTD_human 2706 GJB2 gap junction protein, beta 2, 26kDa umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C2677637 Deafness, Autosomal Dominant 2A 0.21 0 Biomarker CTD_human 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C2673759 Deafness, Autosomal Recessive 1A 0.21 0 Biomarker CTD_human 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C0079153 Hyperkeratosis, Epidermolytic 0.21 1 Biomarker CTD_human 127534 GJB4 gap junction protein, beta 4, 30.3kDa umls:C0079153 Hyperkeratosis, Epidermolytic 0.21 1 Biomarker CTD_human 2709 GJB5 gap junction protein, beta 5, 31.1kDa umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 10804 GJB6 gap junction protein, beta 6, 30kDa umls:C2675750 Deafness, Autosomal Dominant 3A 0.21 0 Biomarker CTD_human 10804 GJB6 gap junction protein, beta 6, 30kDa umls:C2675235 Deafness, Autosomal Recessive 1b 0.21 0 Biomarker CTD_human 10052 GJC1 gap junction protein, gamma 1, 45kDa umls:C0020538 Hypertension 0.21 1 Therapeutic CTD_human 2710 GK glycerol kinase umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 56287 GKN1 gastrokine 1 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 2720 GLB1 galactosidase, beta 1 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 2720 GLB1 galactosidase, beta 1 umls:C0010038 Corneal Opacity 0.21 1 Biomarker CTD_human 2720 GLB1 galactosidase, beta 1 umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 2720 GLB1 galactosidase, beta 1 umls:C0029422 Osteochondrodysplasias 0.21 1 Biomarker CTD_human 2722 GLC1B glaucoma 1, open angle, B (adult-onset) umls:C1415091 glaucoma 1, open angle, B (adult-onset) 0.21 0 Biomarker CTD_human 2723 GLC1C glaucoma 1, open angle, C umls:C1866483 Glaucoma 1, Open Angle, C 0.21 0 Biomarker CTD_human 2724 GLC1D glaucoma 1, open angle, D (adult-onset) umls:C1865427 Glaucoma 1, Open Angle, D 0.21 0 Biomarker CTD_human 399564 GLC1H glaucoma 1, open angle, H (adult-onset) umls:C1969811 Glaucoma 1, Open Angle, H 0.21 0 Biomarker CTD_human 497188 GLC1I glaucoma 1, open angle, I umls:C1857852 Glaucoma 1, Open Angle, I 0.21 0 Biomarker CTD_human 574078 GLC1J glaucoma 1, open angle, J (juvenile-onset) umls:C1837528 Glaucoma 1, Open Angle, J 0.21 0 Biomarker CTD_human 574077 GLC1K glaucoma 1, open angle, K (juvenile-onset) umls:C1837527 Glaucoma 1, Open Angle, K 0.21 0 Biomarker CTD_human 777645 GLC1N glaucoma 1, open angle, N (juvenile-onset) umls:C1969812 Glaucoma 1, Open Angle, N 0.21 0 Biomarker CTD_human 2728 GLC3B glaucoma 3, primary infantile, B umls:C1832977 Glaucoma 3, primary infantile, B 0.21 0 Biomarker CTD_human 399565 GLC3C glaucoma 3, primary congenital, C umls:C1428921 GLAUCOMA 3, PRIMARY CONGENITAL, C 0.21 0 Biomarker CTD_human 2735 GLI1 GLI family zinc finger 1 umls:C0023487 Leukemia, Promyelocytic, Acute 0.21 1 Biomarker CTD_human 2735 GLI1 GLI family zinc finger 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2736 GLI2 GLI family zinc finger 2 umls:C0004779 Basal Cell Nevus Syndrome 0.21 1 Biomarker CTD_human 2736 GLI2 GLI family zinc finger 2 umls:C0023487 Leukemia, Promyelocytic, Acute 0.21 1 Biomarker CTD_human 2737 GLI3 GLI family zinc finger 3 umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 2737 GLI3 GLI family zinc finger 3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 11010 GLIPR1 GLI pathogenesis-related 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 11010 GLIPR1 GLI pathogenesis-related 1 umls:C0027708 Wilms Tumor 0.21 1 Biomarker CTD_human 84662 GLIS2 GLIS family zinc finger 2 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 338030 GLM4 Glioma, familial, 1 umls:C0017638 Glioma 0.21 0 Biomarker CTD_human 100415894 GLM5 Glioma susceptibility 5 umls:C0017638 Glioma 0.21 0 Biomarker CTD_human 100415895 GLM6 Glioma susceptibility 6 umls:C0017638 Glioma 0.21 0 Biomarker CTD_human 100316847 GLM8 Glioma susceptibility 8 umls:C0017638 Glioma 0.21 0 Biomarker CTD_human 2739 GLO1 glyoxalase I umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 2739 GLO1 glyoxalase I umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 2740 GLP1R glucagon-like peptide 1 receptor umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 2740 GLP1R glucagon-like peptide 1 receptor umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 2741 GLRA1 glycine receptor, alpha 1 umls:C0393593 Dystonic Disorders 0.21 1 Biomarker CTD_human 2743 GLRB glycine receptor, beta umls:C1835614 Hyperexplexia hereditary 0.21 0 Biomarker CTD_human 10539 GLRX3 glutaredoxin 3 umls:C0018800 Cardiomegaly 0.21 1 Therapeutic CTD_human 10539 GLRX3 glutaredoxin 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2744 GLS glutaminase umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 2744 GLS glutaminase umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 29997 GLTSCR2 glioma tumor suppressor candidate region gene 2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 2746 GLUD1 glutamate dehydrogenase 1 umls:C0015934 Fetal Growth Retardation 0.21 1 Biomarker CTD_human 2752 GLUL glutamate-ammonia ligase umls:C0752109 Brain Diseases, Metabolic, Inborn 0.21 1 Biomarker CTD_human 2752 GLUL glutamate-ammonia ligase umls:C0023904 Liver Neoplasms, Experimental 0.21 2 Biomarker CTD_human 644076 GLYCAM1 glycosylation dependent cell adhesion molecule 1 (pseudogene) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 644076 GLYCAM1 glycosylation dependent cell adhesion molecule 1 (pseudogene) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 644076 GLYCAM1 glycosylation dependent cell adhesion molecule 1 (pseudogene) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2759 GLYS1 glycosuria 1, renal umls:C0017980 Glycosuria, Renal 0.21 0 Biomarker CTD_human 51292 GMPR2 guanosine monophosphate reductase 2 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 51292 GMPR2 guanosine monophosphate reductase 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 8833 GMPS guanine monphosphate synthase umls:C0023467 Leukemia, Myeloid, Acute 0.21 0 Biomarker CTD_human 2768 GNA12 guanine nucleotide binding protein (G protein) alpha 12 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 10672 GNA13 guanine nucleotide binding protein (G protein), alpha 13 umls:C0006413 Burkitt Lymphoma 0.21 1 Biomarker CTD_human 2770 GNAI1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 umls:C0002622 Amnesia 0.21 1 Biomarker CTD_human 2770 GNAI1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 2771 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 umls:C0004245 Atrioventricular Block 0.21 1 Biomarker CTD_human 2771 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 umls:C0428977 Bradycardia 0.21 1 Biomarker CTD_human 2771 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 2771 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2771 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2771 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 umls:C0340485 Familial ventricular tachycardia 0.21 0 Biomarker CTD_human 2773 GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 umls:C0002622 Amnesia 0.21 1 Biomarker CTD_human 2775 GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 2776 GNAQ guanine nucleotide binding protein (G protein), q polypeptide umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 2776 GNAQ guanine nucleotide binding protein (G protein), q polypeptide umls:C0005779 Blood Coagulation Disorders 0.21 1 Biomarker CTD_human 2776 GNAQ guanine nucleotide binding protein (G protein), q polypeptide umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2776 GNAQ guanine nucleotide binding protein (G protein), q polypeptide umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 2776 GNAQ guanine nucleotide binding protein (G protein), q polypeptide umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C1306214 ACTH-Secreting Pituitary Adenoma 0.21 0 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0221263 Cafe-au-Lait Spots 0.21 2 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0242216 Gallstones 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0019087 Hemorrhagic Disorders 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0023897 Liver Diseases, Parasitic 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0033805 Pseudohypoaldosteronism 0.21 0 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0035204 Respiration Disorders 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 149775 GNAS-AS1 GNAS antisense RNA 1 umls:C0033805 Pseudohypoaldosteronism 0.21 0 Biomarker CTD_human 346562 GNAT3 guanine nucleotide binding protein, alpha transducing 3 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 2782 GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 2782 GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 10399 GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 2784 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 2791 GNG11 guanine nucleotide binding protein (G protein), gamma 11 umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 55970 GNG12 guanine nucleotide binding protein (G protein), gamma 12 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2787 GNG5 guanine nucleotide binding protein (G protein), gamma 5 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2788 GNG7 guanine nucleotide binding protein (G protein), gamma 7 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 94235 GNG8 guanine nucleotide binding protein (G protein), gamma 8 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 27232 GNMT glycine N-methyltransferase umls:C0019158 Hepatitis 0.21 1 Biomarker CTD_human 27232 GNMT glycine N-methyltransferase umls:C0598608 Hyperhomocysteinemia 0.21 1 Biomarker CTD_human 132789 GNPDA2 glucosamine-6-phosphate deaminase 2 umls:C0005910 Body Weight 0.21 1 Biomarker CTD_human 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0001624 Adrenal Gland Neoplasms 0.21 1 Therapeutic CTD_human 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0428977 Bradycardia 0.21 1 Therapeutic CTD_human 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0018681 Headache 0.21 1 Biomarker CTD_human 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0020514 Hyperprolactinemia 0.21 1 Biomarker CTD_human 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0021364 Infertility, Male 0.21 1 Therapeutic CTD_human 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C0042963 Vomiting 0.21 1 Biomarker CTD_human 2798 GNRHR gonadotropin-releasing hormone receptor umls:C0001624 Adrenal Gland Neoplasms 0.21 1 Biomarker CTD_human 2799 GNS glucosamine (N-acetyl)-6-sulfatase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2803 GOLGA4 golgin A4 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 2803 GOLGA4 golgin A4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2803 GOLGA4 golgin A4 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 9950 GOLGA5 golgin A5 umls:C0238463 Thyroid cancer, papillary 0.21 0 Biomarker CTD_human 54856 GON4L gon-4-like (C. elegans) umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 57120 GOPC golgi-associated PDZ and coiled-coil motif containing umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 92344 GORAB golgin, RAB6-interacting umls:C0037268 Skin Abnormalities 0.21 1 Biomarker CTD_human 2805 GOT1 glutamic-oxaloacetic transaminase 1, soluble umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 2812 GP1BB glycoprotein Ib (platelet), beta polypeptide umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2812 GP1BB glycoprotein Ib (platelet), beta polypeptide umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 2812 GP1BB glycoprotein Ib (platelet), beta polypeptide umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 2813 GP2 glycoprotein 2 (zymogen granule membrane) umls:C0005910 Body Weight 0.21 1 Biomarker CTD_human 57678 GPAM glycerol-3-phosphate acyltransferase, mitochondrial umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 57678 GPAM glycerol-3-phosphate acyltransferase, mitochondrial umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 7918 GPANK1 G patch domain and ankyrin repeats 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 151306 GPBAR1 G protein-coupled bile acid receptor 1 umls:C0009806 Constipation 0.21 1 Biomarker CTD_human 151306 GPBAR1 G protein-coupled bile acid receptor 1 umls:C0010346 Crohn Disease 0.21 1 Biomarker CTD_human 2239 GPC4 glypican 4 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2262 GPC5 glypican 5 umls:C0001925 Albuminuria 0.21 1 Therapeutic CTD_human 10082 GPC6 glypican 6 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 10082 GPC6 glypican 6 umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 2820 GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 2820 GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) umls:C0268583 Methylmalonic acidemia 0.21 1 Biomarker CTD_human 2820 GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 7986 GPDS1 glaucoma-related pigment dispersion syndrome 1 umls:C1271398 Glaucoma-Related Pigment Dispersion Syndrome 0.21 0 Biomarker CTD_human 2852 GPER1 G protein-coupled estrogen receptor 1 umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 170589 GPHA2 glycoprotein hormone alpha 2 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 10243 GPHN gephyrin umls:C0001973 Alcoholism 0.21 1 Biomarker CTD_human 10243 GPHN gephyrin umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2821 GPI glucose-6-phosphate isomerase umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 10457 GPNMB glycoprotein (transmembrane) nmb umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 10457 GPNMB glycoprotein (transmembrane) nmb umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 10457 GPNMB glycoprotein (transmembrane) nmb umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10457 GPNMB glycoprotein (transmembrane) nmb umls:C0162557 Liver Failure, Acute 0.21 1 Biomarker CTD_human 221393 GPR115 G protein-coupled receptor 115 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 57211 GPR126 G protein-coupled receptor 126 umls:C2700406 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 0.21 1 Biomarker CTD_human 347088 GPR144 G protein-coupled receptor 144 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 2838 GPR15 G protein-coupled receptor 15 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 285601 GPR150 G protein-coupled receptor 150 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 387509 GPR153 G protein-coupled receptor 153 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 151556 GPR155 G protein-coupled receptor 155 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 2840 GPR17 G protein-coupled receptor 17 umls:C0751955 Brain Infarction 0.21 1 Therapeutic CTD_human 1880 GPR183 G protein-coupled receptor 183 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2857 GPR34 G protein-coupled receptor 34 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 9248 GPR50 G protein-coupled receptor 50 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 10149 GPR64 G protein-coupled receptor 64 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 8477 GPR65 G protein-coupled receptor 65 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8156 GPSC gliosis, familial progressive subcortical umls:C1857300 Gliosis, Familial Progressive Subcortical 0.21 0 Biomarker CTD_human 26086 GPSM1 G-protein signaling modulator 1 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2875 GPT glutamic-pyruvate transaminase (alanine aminotransferase) umls:C0860207 Drug-Induced Liver Injury 0.21 2 Biomarker CTD_human 2875 GPT glutamic-pyruvate transaminase (alanine aminotransferase) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0007786 Brain Ischemia 0.21 1 Therapeutic CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0020550 Hyperthyroidism 0.21 1 Biomarker CTD_human 2876 GPX1 glutathione peroxidase 1 umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 2877 GPX2 glutathione peroxidase 2 (gastrointestinal) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0014175 Endometriosis 0.21 2 Biomarker CTD_human 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0015624 Fanconi Syndrome 0.21 1 Biomarker CTD_human 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0024121 Lung Neoplasms 0.21 2 Biomarker CTD_human 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 2878 GPX3 glutathione peroxidase 3 (plasma) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2879 GPX4 glutathione peroxidase 4 umls:C0006635 Cadmium Poisoning 0.21 1 Biomarker CTD_human 2879 GPX4 glutathione peroxidase 4 umls:C0752351 Embryo Loss 0.21 1 Biomarker CTD_human 2879 GPX4 glutathione peroxidase 4 umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 2888 GRB14 growth factor receptor-bound protein 14 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 2886 GRB7 growth factor receptor-bound protein 7 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 2886 GRB7 growth factor receptor-bound protein 7 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 2886 GRB7 growth factor receptor-bound protein 7 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 2886 GRB7 growth factor receptor-bound protein 7 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 100312954 GRD1 Graves disease, susceptiblity to, 1 umls:C0018213 Graves Disease 0.21 0 Biomarker CTD_human 117189 GRDX Graves disease, susceptibility to, X-linked umls:C0018213 Graves Disease 0.21 0 Biomarker CTD_human 117189 GRDX Graves disease, susceptibility to, X-linked umls:C2678151 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1 0.21 0 Biomarker CTD_human 26585 GREM1 gremlin 1, DAN family BMP antagonist umls:C0032580 Adenomatous Polyposis Coli 0.21 1 Biomarker CTD_human 26585 GREM1 gremlin 1, DAN family BMP antagonist umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 57822 GRHL3 grainyhead-like 3 (Drosophila) umls:C0015927 Fetal Death 0.21 1 Biomarker CTD_human 57822 GRHL3 grainyhead-like 3 (Drosophila) umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 9380 GRHPR glyoxylate reductase/hydroxypyruvate reductase umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2890 GRIA1 glutamate receptor, ionotropic, AMPA 1 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 2890 GRIA1 glutamate receptor, ionotropic, AMPA 1 umls:C0236736 Cocaine-Related Disorders 0.21 5 Biomarker, Therapeutic CTD_human 2890 GRIA1 glutamate receptor, ionotropic, AMPA 1 umls:C0424295 Hyperkinesis 0.21 2 Biomarker CTD_human 2890 GRIA1 glutamate receptor, ionotropic, AMPA 1 umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 2890 GRIA1 glutamate receptor, ionotropic, AMPA 1 umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 2890 GRIA1 glutamate receptor, ionotropic, AMPA 1 umls:C0026552 Morphine Dependence 0.21 1 Biomarker CTD_human 2890 GRIA1 glutamate receptor, ionotropic, AMPA 1 umls:C0033953 Sexual Dysfunctions, Psychological 0.21 1 Biomarker CTD_human 2891 GRIA2 glutamate receptor, ionotropic, AMPA 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2891 GRIA2 glutamate receptor, ionotropic, AMPA 2 umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 2891 GRIA2 glutamate receptor, ionotropic, AMPA 2 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 2892 GRIA3 glutamate receptor, ionotropic, AMPA 3 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 2892 GRIA3 glutamate receptor, ionotropic, AMPA 3 umls:C0033953 Sexual Dysfunctions, Psychological 0.21 1 Biomarker CTD_human 2893 GRIA4 glutamate receptor, ionotropic, AMPA 4 umls:C0027092 Myopia 0.21 1 Biomarker CTD_human 2893 GRIA4 glutamate receptor, ionotropic, AMPA 4 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2894 GRID1 glutamate receptor, ionotropic, delta 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 2898 GRIK2 glutamate receptor, ionotropic, kainate 2 umls:C0033953 Sexual Dysfunctions, Psychological 0.21 1 Biomarker CTD_human 2898 GRIK2 glutamate receptor, ionotropic, kainate 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2899 GRIK3 glutamate receptor, ionotropic, kainate 3 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 2902 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker CTD_human 2902 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0023014 Language Development Disorders 0.21 1 Biomarker CTD_human 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0026552 Morphine Dependence 0.21 1 Biomarker CTD_human 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0037822 Speech Disorders 0.21 1 Biomarker CTD_human 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 2904 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 2904 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 2904 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 2906 GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 116443 GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A umls:C0242350 Erectile Dysfunction 0.21 1 Biomarker CTD_human 2869 GRK5 G protein-coupled receptor kinase 5 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 2911 GRM1 glutamate receptor, metabotropic 1 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.21 1 Biomarker CTD_human 2911 GRM1 glutamate receptor, metabotropic 1 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 2911 GRM1 glutamate receptor, metabotropic 1 umls:C0016045 Fibroma 0.21 1 Biomarker CTD_human 2911 GRM1 glutamate receptor, metabotropic 1 umls:C0206639 Neoplasms, Bone Tissue 0.21 1 Biomarker CTD_human 2911 GRM1 glutamate receptor, metabotropic 1 umls:C0038220 Status Epilepticus 0.21 2 Biomarker CTD_human 2912 GRM2 glutamate receptor, metabotropic 2 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 2912 GRM2 glutamate receptor, metabotropic 2 umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 2913 GRM3 glutamate receptor, metabotropic 3 umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 2914 GRM4 glutamate receptor, metabotropic 4 umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 2914 GRM4 glutamate receptor, metabotropic 4 umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 2915 GRM5 glutamate receptor, metabotropic 5 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 2915 GRM5 glutamate receptor, metabotropic 5 umls:C0011882 Diabetic Neuropathies 0.21 1 Biomarker CTD_human 2915 GRM5 glutamate receptor, metabotropic 5 umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 2915 GRM5 glutamate receptor, metabotropic 5 umls:C0027796 Neuralgia 0.21 1 Biomarker CTD_human 2915 GRM5 glutamate receptor, metabotropic 5 umls:C0038220 Status Epilepticus 0.21 2 Biomarker CTD_human 2915 GRM5 glutamate receptor, metabotropic 5 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2917 GRM7 glutamate receptor, metabotropic 7 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 2918 GRM8 glutamate receptor, metabotropic 8 umls:C1263846 Attention Deficit Disorder with Hyperactivity 0.21 1 Biomarker CTD_human 2918 GRM8 glutamate receptor, metabotropic 8 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 2918 GRM8 glutamate receptor, metabotropic 8 umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 2918 GRM8 glutamate receptor, metabotropic 8 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 2896 GRN granulin umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 2922 GRP gastrin-releasing peptide umls:C0002622 Amnesia 0.21 1 Therapeutic CTD_human 2922 GRP gastrin-releasing peptide umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 2922 GRP gastrin-releasing peptide umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 80273 GRPEL1 GrpE-like 1, mitochondrial (E. coli) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 2925 GRPR gastrin-releasing peptide receptor umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 145258 GSC goosecoid homeobox umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 2931 GSK3A glycogen synthase kinase 3 alpha umls:C0005586 Bipolar Disorder 0.21 1 Biomarker CTD_human 2931 GSK3A glycogen synthase kinase 3 alpha umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C0026846 Muscular Atrophy 0.21 1 Therapeutic CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C0031154 Peritonitis 0.21 1 Biomarker CTD_human 2932 GSK3B glycogen synthase kinase 3 beta umls:C0032343 Poisoning 0.21 1 Biomarker CTD_human 2933 GSM1 geniospasm 1 umls:C1860972 Geniospasm 0.21 0 Biomarker CTD_human 2934 GSN gelsolin umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 2934 GSN gelsolin umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 2934 GSN gelsolin umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 2934 GSN gelsolin umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 2934 GSN gelsolin umls:C0030524 Paratuberculosis 0.21 1 Biomarker CTD_human 2934 GSN gelsolin umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 2936 GSR glutathione reductase umls:C0002736 Amyotrophic Lateral Sclerosis 0.21 1 Biomarker CTD_human 2936 GSR glutathione reductase umls:C0002871 Anemia 0.21 1 Biomarker CTD_human 2936 GSR glutathione reductase umls:C0002878 Anemia, Hemolytic 0.21 1 Biomarker CTD_human 2936 GSR glutathione reductase umls:C0013604 Edema 0.21 1 Biomarker CTD_human 2936 GSR glutathione reductase umls:C0020550 Hyperthyroidism 0.21 1 Biomarker CTD_human 2936 GSR glutathione reductase umls:C0020615 Hypoglycemia 0.21 1 Biomarker CTD_human 2936 GSR glutathione reductase umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 2936 GSR glutathione reductase umls:C0242422 Parkinsonian Disorders 0.21 1 Therapeutic CTD_human 2936 GSR glutathione reductase umls:C0033626 Protein Deficiency 0.21 1 Biomarker CTD_human 2937 GSS glutathione synthetase umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 2937 GSS glutathione synthetase umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 2937 GSS glutathione synthetase umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 2937 GSS glutathione synthetase umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 2938 GSTA1 glutathione S-transferase alpha 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2939 GSTA2 glutathione S-transferase alpha 2 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 2941 GSTA4 glutathione S-transferase alpha 4 umls:C0003850 Arteriosclerosis 0.21 2 Biomarker, Therapeutic CTD_human 2941 GSTA4 glutathione S-transferase alpha 4 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 221357 GSTA5 glutathione S-transferase alpha 5 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 79807 GSTCD glutathione S-transferase, C-terminal domain containing umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 373156 GSTK1 glutathione S-transferase kappa 1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 373156 GSTK1 glutathione S-transferase kappa 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2944 GSTM1 glutathione S-transferase mu 1 umls:C0008625 Chromosome Aberrations 0.21 1 Biomarker CTD_human 2944 GSTM1 glutathione S-transferase mu 1 umls:C0012655 Disease Susceptibility 0.21 1 Biomarker CTD_human 2944 GSTM1 glutathione S-transferase mu 1 umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 2944 GSTM1 glutathione S-transferase mu 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 2944 GSTM1 glutathione S-transferase mu 1 umls:C1449861 Micronuclei, Chromosome-Defective 0.21 1 Biomarker CTD_human 2944 GSTM1 glutathione S-transferase mu 1 umls:C0042109 Urticaria 0.21 1 Biomarker CTD_human 2946 GSTM2 glutathione S-transferase mu 2 (muscle) umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 2946 GSTM2 glutathione S-transferase mu 2 (muscle) umls:C0013080 Down Syndrome 0.21 1 Biomarker CTD_human 2946 GSTM2 glutathione S-transferase mu 2 (muscle) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 2946 GSTM2 glutathione S-transferase mu 2 (muscle) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2946 GSTM2 glutathione S-transferase mu 2 (muscle) umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 2947 GSTM3 glutathione S-transferase mu 3 (brain) umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 2947 GSTM3 glutathione S-transferase mu 3 (brain) umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 2947 GSTM3 glutathione S-transferase mu 3 (brain) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2948 GSTM4 glutathione S-transferase mu 4 umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 2949 GSTM5 glutathione S-transferase mu 5 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 2949 GSTM5 glutathione S-transferase mu 5 umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 9446 GSTO1 glutathione S-transferase omega 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 9446 GSTO1 glutathione S-transferase omega 1 umls:C0023418 Leukemia 0.21 1 Biomarker CTD_human 9446 GSTO1 glutathione S-transferase omega 1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 9446 GSTO1 glutathione S-transferase omega 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0008625 Chromosome Aberrations 0.21 1 Biomarker CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 2950 GSTP1 glutathione S-transferase pi 1 umls:C0035234 Respiratory Sounds 0.21 1 Biomarker CTD_human 2952 GSTT1 glutathione S-transferase theta 1 umls:C0403823 Asthenozoospermia 0.21 1 Biomarker CTD_human 2952 GSTT1 glutathione S-transferase theta 1 umls:C0008625 Chromosome Aberrations 0.21 3 Biomarker CTD_human 2952 GSTT1 glutathione S-transferase theta 1 umls:C1449861 Micronuclei, Chromosome-Defective 0.21 1 Biomarker CTD_human 2953 GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 2953 GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) umls:C0238288 Muscular Dystrophy, Facioscapulohumeral 0.21 1 Biomarker CTD_human 2954 GSTZ1 glutathione S-transferase zeta 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2954 GSTZ1 glutathione S-transferase zeta 1 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 170825 GSX2 GS homeobox 2 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 2965 GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 2969 GTF2I general transcription factor IIi umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 2969 GTF2I general transcription factor IIi umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 2969 GTF2I general transcription factor IIi umls:C1527336 Sjogren's Syndrome 0.21 1 Biomarker CTD_human 2969 GTF2I general transcription factor IIi umls:C1266101 Thymic epithelial tumor 0.21 1 Biomarker CTD_human 2971 GTF3A general transcription factor IIIA umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 2977 GUCY1A2 guanylate cyclase 1, soluble, alpha 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 2977 GUCY1A2 guanylate cyclase 1, soluble, alpha 2 umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 2982 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2982 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 2982 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 umls:C1956346 Coronary Artery Disease 0.21 1 Biomarker CTD_human 2982 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 2982 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 2982 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 2989 GULOP gulonolactone (L-) oxidase, pseudogene umls:C0036474 Scurvy 0.21 0 Biomarker CTD_human 51454 GULP1 GULP, engulfment adaptor PTB domain containing 1 umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 2990 GUSB glucuronidase, beta umls:C0027765 Nervous System Diseases 0.21 2 Biomarker CTD_human 2990 GUSB glucuronidase, beta umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 8258 GUST Gustavson mental retardation syndrome (with microcephaly, optic umls:C0795965 X-linked mental retardation Gustavson type 0.21 0 Biomarker CTD_human 2992 GYG1 glycogenin 1 umls:C0003811 Arrhythmias, Cardiac 0.21 1 Biomarker CTD_human 2992 GYG1 glycogenin 1 umls:C0151786 Muscle Weakness 0.21 1 Biomarker CTD_human 2992 GYG1 glycogenin 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3002 GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3002 GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 2999 GZMH granzyme H (cathepsin G-like 2, protein h-CCPX) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 283120 H19 H19, imprinted maternally expressed transcript (non-protein coding) umls:C1853800 Familial Wilms tumor 2 0.21 0 Biomarker CTD_human 283120 H19 H19, imprinted maternally expressed transcript (non-protein coding) umls:C0019188 Hepatitis, Animal 0.21 1 Biomarker CTD_human 283120 H19 H19, imprinted maternally expressed transcript (non-protein coding) umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3005 H1F0 H1 histone family, member 0 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 9555 H2AFY H2A histone family, member Y umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3015 H2AFZ H2A histone family, member Z umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3021 H3F3B H3 histone, family 3B (H3.3B) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 3021 H3F3B H3 histone, family 3B (H3.3B) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3021 H3F3B H3 histone, family 3B (H3.3B) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3026 HABP2 hyaluronan binding protein 2 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3033 HADH hydroxyacyl-CoA dehydrogenase umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 3030 HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3030 HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 3032 HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3032 HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 3032 HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 3032 HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit umls:C0154251 Lipid Metabolism Disorders 0.21 1 Biomarker CTD_human 57817 HAMP hepcidin antimicrobial peptide umls:C1865614 Hemochromatosis, Type 2A 0.21 0 Biomarker CTD_human 9421 HAND1 heart and neural crest derivatives expressed 1 umls:C0032343 Poisoning 0.21 1 Biomarker CTD_human 9464 HAND2 heart and neural crest derivatives expressed 2 umls:C0039685 Tetralogy of Fallot 0.21 1 Biomarker CTD_human 54363 HAO1 hydroxyacid oxidase (glycolate oxidase) 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 51179 HAO2 hydroxyacid oxidase 2 (long chain) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 1404 HAPLN1 hyaluronan and proteoglycan link protein 1 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 1404 HAPLN1 hyaluronan and proteoglycan link protein 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 1404 HAPLN1 hyaluronan and proteoglycan link protein 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1404 HAPLN1 hyaluronan and proteoglycan link protein 1 umls:C0013336 Dwarfism 0.21 1 Biomarker CTD_human 1404 HAPLN1 hyaluronan and proteoglycan link protein 1 umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 3035 HARS histidyl-tRNA synthetase umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 26762 HAVCR1 hepatitis A virus cellular receptor 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 26762 HAVCR1 hepatitis A virus cellular receptor 1 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 2 Biomarker CTD_human 26762 HAVCR1 hepatitis A virus cellular receptor 1 umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 26762 HAVCR1 hepatitis A virus cellular receptor 1 umls:C1840253 Ige Responsiveness, Atopic 0.21 0 Biomarker CTD_human 26762 HAVCR1 hepatitis A virus cellular receptor 1 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0007785 Cerebral Infarction 0.21 1 Biomarker CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0700299 Heinz Body Anemias 0.21 0 Biomarker CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0025637 Methemoglobinemia 0.21 1 Biomarker CTD_human 3039 HBA1 hemoglobin, alpha 1 umls:C0032463 Polycythemia Vera 0.21 1 Biomarker CTD_human 3040 HBA2 hemoglobin, alpha 2 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 3040 HBA2 hemoglobin, alpha 2 umls:C0700299 Heinz Body Anemias 0.21 0 Biomarker CTD_human 3043 HBB hemoglobin, beta umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 3043 HBB hemoglobin, beta umls:C0010520 Cyanosis 0.21 1 Biomarker CTD_human 3043 HBB hemoglobin, beta umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 3043 HBB hemoglobin, beta umls:C0700299 Heinz Body Anemias 0.21 0 Biomarker CTD_human 3043 HBB hemoglobin, beta umls:C0025637 Methemoglobinemia 0.21 1 Biomarker CTD_human 3043 HBB hemoglobin, beta umls:C0032463 Polycythemia Vera 0.21 1 Biomarker CTD_human 3044 HBBP1 hemoglobin, beta pseudogene 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3045 HBD hemoglobin, delta umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 3045 HBD hemoglobin, delta umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 1839 HBEGF heparin-binding EGF-like growth factor umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 1839 HBEGF heparin-binding EGF-like growth factor umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 1839 HBEGF heparin-binding EGF-like growth factor umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1839 HBEGF heparin-binding EGF-like growth factor umls:C0014549 Epilepsy, Tonic-Clonic 0.21 1 Biomarker CTD_human 1839 HBEGF heparin-binding EGF-like growth factor umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 1839 HBEGF heparin-binding EGF-like growth factor umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 3047 HBG1 hemoglobin, gamma A umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 3047 HBG1 hemoglobin, gamma A umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3048 HBG2 hemoglobin, gamma G umls:C2609414 Acute Kidney Injury 0.21 2 Biomarker CTD_human 3048 HBG2 hemoglobin, gamma G umls:C0028961 Oliguria 0.21 1 Biomarker CTD_human 3048 HBG2 hemoglobin, gamma G umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8129 HBHR alpha-thalassemia/mental retardation syndrome, type 1 umls:C0795917 Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 0.21 0 Biomarker CTD_human 8184 HBN1 Progressive familial heart block, type I, locus 1 umls:C1879286 Hereditary bundle branch system defect 0.21 0 Biomarker CTD_human 8184 HBN1 Progressive familial heart block, type I, locus 1 umls:C1970298 Progressive Familial Heart Block, Type Ib 0.21 0 Biomarker CTD_human 266790 HCA1 Hypercalciuria, absorptive, 1 umls:C1846573 Hypercalciuria, Absorptive, 1 0.21 0 Biomarker CTD_human 338442 HCAR2 hydroxycarboxylic acid receptor 2 umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 338442 HCAR2 hydroxycarboxylic acid receptor 2 umls:C0033860 Psoriasis 0.21 1 Biomarker CTD_human 338442 HCAR2 hydroxycarboxylic acid receptor 2 umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 8843 HCAR3 hydroxycarboxylic acid receptor 3 umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 8843 HCAR3 hydroxycarboxylic acid receptor 3 umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 619501 HCC thyroid carcinoma, Hurthle cell umls:C0749424 Thyroid cancer, Hurthle cell 0.21 0 Biomarker CTD_human 3055 HCK HCK proto-oncogene, Src family tyrosine kinase umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 3059 HCLS1 hematopoietic cell-specific Lyn substrate 1 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 3059 HCLS1 hematopoietic cell-specific Lyn substrate 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3059 HCLS1 hematopoietic cell-specific Lyn substrate 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 348980 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 umls:C0004134 Ataxia 0.21 1 Biomarker CTD_human 348980 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 348980 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 umls:C3463992 Epileptic Encephalopathy, Early Infantile, 1 0.21 1 Biomarker CTD_human 10021 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 3060 HCRT hypocretin (orexin) neuropeptide precursor umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 3060 HCRT hypocretin (orexin) neuropeptide precursor umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 3060 HCRT hypocretin (orexin) neuropeptide precursor umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 3061 HCRTR1 hypocretin (orexin) receptor 1 umls:C0236736 Cocaine-Related Disorders 0.21 3 Biomarker CTD_human 3061 HCRTR1 hypocretin (orexin) receptor 1 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 3063 HCVS human coronavirus sensitivity umls:C0010078 Coronaviridae Infections 0.21 0 Biomarker CTD_human 3065 HDAC1 histone deacetylase 1 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 3066 HDAC2 histone deacetylase 2 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 3066 HDAC2 histone deacetylase 2 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8841 HDAC3 histone deacetylase 3 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 9759 HDAC4 histone deacetylase 4 umls:C0221357 Brachydactyly 0.21 1 Biomarker CTD_human 9759 HDAC4 histone deacetylase 4 umls:C0236736 Cocaine-Related Disorders 0.21 1 Therapeutic CTD_human 9759 HDAC4 histone deacetylase 4 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 10014 HDAC5 histone deacetylase 5 umls:C0001546 Adjustment Disorders 0.21 1 Biomarker CTD_human 10014 HDAC5 histone deacetylase 5 umls:C0236736 Cocaine-Related Disorders 0.21 1 Therapeutic CTD_human 10013 HDAC6 histone deacetylase 6 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 3068 HDGF hepatoma-derived growth factor umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 84064 HDHD2 haloacid dehalogenase-like hydrolase domain containing 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 53369 HDL3 Huntington-like neurodegenerative disorder 2 umls:C1858114 Huntington Disease-Like 3 0.21 0 Biomarker CTD_human 3069 HDLBP high density lipoprotein binding protein umls:C2931817 Chromosome 2q37 deletion syndrome 0.21 1 Biomarker CTD_human 3069 HDLBP high density lipoprotein binding protein umls:C0027671 Neoplastic Processes 0.21 1 Biomarker CTD_human 353125 HDLC3 High density lipoprotein cholesterol, low serum, 3 umls:C1843212 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 0.21 0 Biomarker CTD_human 192144 HDLCQ1 high density lipoprotein cholesterol level QTL 1 umls:C1847758 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 0.21 0 Biomarker CTD_human 56801 HDLCQ14 Hypoalphalipoproteinemia, primary umls:C3551749 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 14 0.21 0 Biomarker CTD_human 353127 HDLCQ2 High density lipoprotein cholesterol level QTL on chromosome 8 umls:C1846886 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 0.21 0 Biomarker CTD_human 100188806 HDLCQ4 High density lipoprotein cholesterol level QTL 4 umls:C1853253 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4 0.21 0 Biomarker CTD_human 100188818 HDLCQ5 High density lipoprotein cholesterol level QTL 5 umls:C1853097 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5 0.21 0 Biomarker CTD_human 100188819 HDLCQ6 High density lipoprotein cholesterol level QTL 6 umls:C1853096 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 0.21 0 Biomarker CTD_human 50829 HDPA Hodgkin disease, susceptibility, pseudoautosomal umls:C1846167 Hodgkin disease, X-linked pseudoautosomal 0.21 0 Biomarker CTD_human 23593 HEBP2 heme binding protein 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 283450 HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 umls:C1956346 Coronary Artery Disease 0.21 1 Biomarker CTD_human 3070 HELLS helicase, lymphoid-specific umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 113510 HELQ helicase, POLQ-like umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8916 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 51191 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 51191 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 55008 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 9709 HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 9709 HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0017636 Glioblastoma 0.21 1 Biomarker CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0751674 Lymphangioleiomyomatosis 0.21 1 Biomarker CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0206663 Neuroectodermal Tumors, Primitive 0.21 1 Biomarker CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0028945 Oligodendroglioma 0.21 1 Biomarker CTD_human 3280 HES1 hes family bHLH transcription factor 1 umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 388585 HES5 hes family bHLH transcription factor 5 umls:C0006118 Brain Neoplasms 0.21 1 Biomarker CTD_human 388585 HES5 hes family bHLH transcription factor 5 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 3073 HEXA hexosaminidase A (alpha polypeptide) umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 3074 HEXB hexosaminidase B (beta polypeptide) umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 3074 HEXB hexosaminidase B (beta polypeptide) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 100188776 HEY hairy ears, Y-linked umls:C1839070 Hairy Ears, Y-Linked 0.21 0 Biomarker CTD_human 23462 HEY1 hes-related family bHLH transcription factor with YRPW motif 1 umls:C0004114 Astrocytoma 0.21 1 Biomarker CTD_human 23462 HEY1 hes-related family bHLH transcription factor with YRPW motif 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 23462 HEY1 hes-related family bHLH transcription factor with YRPW motif 1 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 23462 HEY1 hes-related family bHLH transcription factor with YRPW motif 1 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 23462 HEY1 hes-related family bHLH transcription factor with YRPW motif 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 23462 HEY1 hes-related family bHLH transcription factor with YRPW motif 1 umls:C0206663 Neuroectodermal Tumors, Primitive 0.21 1 Biomarker CTD_human 23462 HEY1 hes-related family bHLH transcription factor with YRPW motif 1 umls:C0028945 Oligodendroglioma 0.21 1 Biomarker CTD_human 23493 HEY2 hes-related family bHLH transcription factor with YRPW motif 2 umls:C0004114 Astrocytoma 0.21 1 Biomarker CTD_human 23493 HEY2 hes-related family bHLH transcription factor with YRPW motif 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 23493 HEY2 hes-related family bHLH transcription factor with YRPW motif 2 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 23493 HEY2 hes-related family bHLH transcription factor with YRPW motif 2 umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Therapeutic CTD_human 3077 HFE hemochromatosis umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 3077 HFE hemochromatosis umls:C2673520 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 0.21 0 Biomarker CTD_human 3077 HFE hemochromatosis umls:C2936913 Porphyria, South African type 0.21 0 Biomarker CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0023893 Liver Cirrhosis, Experimental 0.21 7 Therapeutic CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0027659 Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0030305 Pancreatitis 0.21 1 Therapeutic CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0030567 Parkinson Disease 0.21 1 Therapeutic CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 3082 HGF hepatocyte growth factor (hepapoietin A; scatter factor) umls:C0043254 Wounds, Penetrating 0.21 1 Therapeutic CTD_human 138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase umls:C0026706 Mucopolysaccharidosis III 0.21 0 Biomarker CTD_human 3087 HHEX hematopoietically expressed homeobox umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3087 HHEX hematopoietically expressed homeobox umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 780903 HHT3 Osler-Rendu-Weber syndrome 3 umls:C1832774 Osler-rendu-weber syndrome 3 0.21 0 Biomarker CTD_human 791087 HHT4 Telangiectasia, hereditary hemorrhagic, type 4 umls:C1857688 Telangiectasia, Hereditary Hemorrhagic, Type 4 0.21 0 Biomarker CTD_human 26275 HIBCH 3-hydroxyisobutyryl-CoA hydrolase umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 3090 HIC1 hypermethylated in cancer 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3090 HIC1 hypermethylated in cancer 1 umls:C0017185 Gastrointestinal Neoplasms 0.21 1 Biomarker CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C1176475 Carcinoma, Ductal 0.21 1 Biomarker CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0008313 Cholangitis, Sclerosing 0.21 1 Biomarker CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 3091 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) umls:C0040136 Thyroid Neoplasms 0.21 1 Biomarker CTD_human 25994 HIGD1A HIG1 hypoxia inducible domain family, member 1A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 192286 HIGD2A HIG1 hypoxia inducible domain family, member 2A umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 192286 HIGD2A HIG1 hypoxia inducible domain family, member 2A umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 3094 HINT1 histidine triad nucleotide binding protein 1 umls:C2932678 Inherited Peripheral Neuropathy 0.21 1 Biomarker CTD_human 3094 HINT1 histidine triad nucleotide binding protein 1 umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 3094 HINT1 histidine triad nucleotide binding protein 1 umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 1 Biomarker CTD_human 3006 HIST1H1C histone cluster 1, H1c umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3006 HIST1H1C histone cluster 1, H1c umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 3008 HIST1H1E histone cluster 1, H1e umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 8332 HIST1H2AL histone cluster 1, H2al umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 8347 HIST1H2BC histone cluster 1, H2bc umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 8339 HIST1H2BG histone cluster 1, H2bg umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 85236 HIST1H2BK histone cluster 1, H2bk umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 8342 HIST1H2BM histone cluster 1, H2bm umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 8366 HIST1H4B histone cluster 1, H4b umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 8365 HIST1H4H histone cluster 1, H4h umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8290 HIST3H3 histone cluster 3, H3 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 3097 HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 55355 HJURP Holliday junction recognition protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3098 HK1 hexokinase 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 3098 HK1 hexokinase 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3099 HK2 hexokinase 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3101 HK3 hexokinase 3 (white cell) umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 3105 HLA-A major histocompatibility complex, class I, A umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 3105 HLA-A major histocompatibility complex, class I, A umls:C0030491 Parapsoriasis 0.21 1 Biomarker CTD_human 3105 HLA-A major histocompatibility complex, class I, A umls:C0040034 Thrombocytopenia 0.21 1 Biomarker CTD_human 3106 HLA-B major histocompatibility complex, class I, B umls:C0011633 Dermatomyositis 0.21 1 Biomarker CTD_human 3106 HLA-B major histocompatibility complex, class I, B umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 5 Biomarker CTD_human 3106 HLA-B major histocompatibility complex, class I, B umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 3106 HLA-B major histocompatibility complex, class I, B umls:C0027697 Nephritis 0.21 1 Biomarker CTD_human 3107 HLA-C major histocompatibility complex, class I, C umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 3108 HLA-DMA major histocompatibility complex, class II, DM alpha umls:C0028796 Dermatitis, Occupational 0.21 1 Biomarker CTD_human 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0002994 Angioedema 0.21 1 Biomarker CTD_human 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 3115 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 3116 HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) umls:C0005138 Berylliosis 0.21 1 Biomarker CTD_human 3116 HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0002994 Angioedema 0.21 1 Biomarker CTD_human 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0022336 Creutzfeldt-Jakob Syndrome 0.21 0 Biomarker CTD_human 3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C0002994 Angioedema 0.21 1 Biomarker CTD_human 3126 HLA-DRB4 major histocompatibility complex, class II, DR beta 4 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 3127 HLA-DRB5 major histocompatibility complex, class II, DR beta 5 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 3133 HLA-E major histocompatibility complex, class I, E umls:C0030491 Parapsoriasis 0.21 1 Biomarker CTD_human 100188397 HLP hyperkeratosis lenticularis perstans umls:C0263420 Hyperkeratosis lenticularis perstans 0.21 0 Biomarker CTD_human 6596 HLTF helicase-like transcription factor umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3159 HMGA1 high mobility group AT-hook 1 umls:C0020456 Hyperglycemia 0.21 1 Biomarker CTD_human 3159 HMGA1 high mobility group AT-hook 1 umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 3159 HMGA1 high mobility group AT-hook 1 umls:C0042138 Uterine Neoplasms 0.21 1 Biomarker CTD_human 8091 HMGA2 high mobility group AT-hook 2 umls:C0005612 Birth Weight 0.21 1 Biomarker CTD_human 3146 HMGB1 high mobility group box 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 3146 HMGB1 high mobility group box 1 umls:C0027540 Necrosis 0.21 2 Biomarker CTD_human 3146 HMGB1 high mobility group box 1 umls:C0264939 Systemic Vasculitis 0.21 1 Biomarker CTD_human 3148 HMGB2 high mobility group box 2 umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 3148 HMGB2 high mobility group box 2 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 3156 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase umls:C0242216 Gallstones 0.21 1 Biomarker CTD_human 3158 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 3158 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3150 HMGN1 high mobility group nucleosome binding domain 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 10473 HMGN4 high mobility group nucleosomal binding domain 4 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23526 HMHA1 histocompatibility (minor) HA-1 umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 3161 HMMR hyaluronan-mediated motility receptor (RHAMM) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3161 HMMR hyaluronan-mediated motility receptor (RHAMM) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3161 HMMR hyaluronan-mediated motility receptor (RHAMM) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 50952 HMN7A Motor neuronopathy, distal hereditary, type VIIA umls:C1834703 Neuropathy, Distal Hereditary Motor, Type VIIA 0.21 0 Biomarker CTD_human 80768 HMNJ Distal hereditary motor neuropathy, Jerash type umls:C1854023 Spinal muscular atrophy, Jerash type 0.21 0 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C2609414 Acute Kidney Injury 0.21 1 Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0162309 Adrenoleukodystrophy 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0002878 Anemia, Hemolytic 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0005779 Blood Coagulation Disorders 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0018800 Cardiomegaly 0.21 1 Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0860207 Drug-Induced Liver Injury 0.21 2 Biomarker, Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0152020 Gastroparesis 0.21 1 Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0019158 Hepatitis 0.21 1 Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0020459 Hyperinsulinism 0.21 1 Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0021655 Insulin Resistance 0.21 2 Biomarker, Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0012715 Iron Metabolism Disorders 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0024121 Lung Neoplasms 0.21 2 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0221013 Mastocytosis, Systemic 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0030286 Pancreatic Diseases 0.21 1 Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0032914 Pre-Eclampsia 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C1846707 Spinocerebellar Ataxia 17 0.21 1 Biomarker CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0040053 Thrombosis 0.21 1 Therapeutic CTD_human 3162 HMOX1 heme oxygenase (decycling) 1 umls:C0178324 Vascular System Injuries 0.21 1 Therapeutic CTD_human 3163 HMOX2 heme oxygenase (decycling) 2 umls:C2937358 Cerebral Hemorrhage 0.21 1 Therapeutic CTD_human 50989 HMSNO Neuropathy, hereditary motor and sensory, Okinawa type umls:C1858338 Neuropathy, hereditary motor and sensory, Okinawa type 0.21 0 Biomarker CTD_human 50823 HMU Hypotrichosis, Marie Unna type umls:C2931059 Marie Unna congenital hypotrichosis 0.21 0 Biomarker CTD_human 3166 HMX1 H6 family homeobox 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 6927 HNF1A HNF1 homeobox A umls:C1840646 Hepatic Adenomas, Familial 0.21 0 Biomarker CTD_human 6928 HNF1B HNF1 homeobox B umls:C2677773 Prostate Cancer, Hereditary, 11 0.21 0 Biomarker CTD_human 3176 HNMT histamine N-methyltransferase umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 3178 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 3178 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3178 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 220988 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 3182 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3187 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 (H) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3190 HNRNPK heterogeneous nuclear ribonucleoprotein K umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3191 HNRNPL heterogeneous nuclear ribonucleoprotein L umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3191 HNRNPL heterogeneous nuclear ribonucleoprotein L umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 3191 HNRNPL heterogeneous nuclear ribonucleoprotein L umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 10236 HNRNPR heterogeneous nuclear ribonucleoprotein R umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 9456 HOMER1 homer homolog 1 (Drosophila) umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker, Therapeutic CTD_human 9455 HOMER2 homer homolog 2 (Drosophila) umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 9454 HOMER3 homer homolog 3 (Drosophila) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 9454 HOMER3 homer homolog 3 (Drosophila) umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 84376 HOOK3 hook microtubule-tethering protein 3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 100124700 HOTAIR HOX transcript antisense RNA umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 3198 HOXA1 homeobox A1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 3198 HOXA1 homeobox A1 umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 3198 HOXA1 homeobox A1 umls:C0497552 Nervous System Malformations 0.21 1 Biomarker CTD_human 3206 HOXA10 homeobox A10 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 3207 HOXA11 homeobox A11 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 3207 HOXA11 homeobox A11 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 3207 HOXA11 homeobox A11 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 3207 HOXA11 homeobox A11 umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 3209 HOXA13 homeobox A13 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 3199 HOXA2 homeobox A2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3200 HOXA3 homeobox A3 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 3200 HOXA3 homeobox A3 umls:C0398368 Lymphatic Abnormalities 0.21 1 Biomarker CTD_human 3202 HOXA5 homeobox A5 umls:C1168401 Carcinoma, squamous cell of head and neck 0.21 1 Biomarker CTD_human 3202 HOXA5 homeobox A5 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 3202 HOXA5 homeobox A5 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 3205 HOXA9 homeobox A9 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 3211 HOXB1 homeobox B1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 3211 HOXB1 homeobox B1 umls:C1858717 Facial paresis, hereditary, congenital 0.21 1 Biomarker CTD_human 3211 HOXB1 homeobox B1 umls:C0497552 Nervous System Malformations 0.21 1 Biomarker CTD_human 3213 HOXB3 homeobox B3 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 3229 HOXC13 homeobox C13 umls:C1865951 Ectodermal Dysplasia, Pure Hair-Nail Type 0.21 1 Biomarker CTD_human 3231 HOXD1 homeobox D1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 3231 HOXD1 homeobox D1 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 3231 HOXD1 homeobox D1 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 3231 HOXD1 homeobox D1 umls:C0030193 Pain 0.21 1 Biomarker CTD_human 3236 HOXD10 homeobox D10 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 3236 HOXD10 homeobox D10 umls:C0431943 Lower Extremity Deformities, Congenital 0.21 1 Biomarker CTD_human 3236 HOXD10 homeobox D10 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 3237 HOXD11 homeobox D11 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 3237 HOXD11 homeobox D11 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 3237 HOXD11 homeobox D11 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3237 HOXD11 homeobox D11 umls:C1168401 Carcinoma, squamous cell of head and neck 0.21 1 Biomarker CTD_human 3237 HOXD11 homeobox D11 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 3237 HOXD11 homeobox D11 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 3237 HOXD11 homeobox D11 umls:C0206762 Limb Deformities, Congenital 0.21 3 Biomarker CTD_human 3237 HOXD11 homeobox D11 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 3237 HOXD11 homeobox D11 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 3238 HOXD12 homeobox D12 umls:C0206762 Limb Deformities, Congenital 0.21 2 Biomarker CTD_human 3238 HOXD12 homeobox D12 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 3239 HOXD13 homeobox D13 umls:C0220708 VATER association 0.21 1 Biomarker CTD_human 3232 HOXD3 homeobox D3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3240 HP haptoglobin umls:C0003864 Arthritis 0.21 1 Biomarker CTD_human 3240 HP haptoglobin umls:C0679360 Foodborne Diseases 0.21 1 Biomarker CTD_human 3240 HP haptoglobin umls:C0017416 Genital Neoplasms, Female 0.21 1 Biomarker CTD_human 3240 HP haptoglobin umls:C0524909 Hepatitis B, Chronic 0.21 1 Biomarker CTD_human 3240 HP haptoglobin umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 3240 HP haptoglobin umls:C0340274 Hypertension, Pregnancy-Induced 0.21 1 Biomarker CTD_human 3240 HP haptoglobin umls:C0085397 Pasteurellaceae Infections 0.21 1 Biomarker CTD_human 3240 HP haptoglobin umls:C0035305 Retinal Detachment 0.21 1 Biomarker CTD_human 100188834 HPC10 Prostate cancer, hereditary, 10 umls:C1970192 Prostate Cancer, Hereditary, 10 0.21 0 Biomarker CTD_human 100188867 HPC14 Prostate cancer, hereditary, 14 umls:C2677772 Prostate Cancer, Hereditary, 14 0.21 0 Biomarker CTD_human 100188868 HPC15 Prostate cancer, hereditary, 15 umls:C2677771 Prostate Cancer, Hereditary, 15 0.21 0 Biomarker CTD_human 408259 HPC3 Prostate cancer, hereditary, 3 umls:C1837595 Prostate Cancer, Hereditary, 3 0.21 0 Biomarker CTD_human 408259 HPC3 Prostate cancer, hereditary, 3 umls:C0033578 Prostatic Neoplasms 0.21 0 Biomarker CTD_human 408260 HPC4 Prostate cancer, hereditary, 4 umls:C1837593 Prostate Cancer, Hereditary, 4 0.21 0 Biomarker CTD_human 408260 HPC4 Prostate cancer, hereditary, 4 umls:C0033578 Prostatic Neoplasms 0.21 0 Biomarker CTD_human 619402 HPC5 prostate cancer, hereditary, 5 umls:C1836436 Prostate Cancer, Hereditary, 5 0.21 0 Biomarker CTD_human 619402 HPC5 prostate cancer, hereditary, 5 umls:C0033578 Prostatic Neoplasms 0.21 0 Biomarker CTD_human 100188789 HPC6 Prostate cancer, susceptibility to umls:C1836005 Prostate Cancer, Hereditary, 6 0.21 0 Biomarker CTD_human 100188789 HPC6 Prostate cancer, susceptibility to umls:C0033578 Prostatic Neoplasms 0.21 0 Biomarker CTD_human 100188809 HPC7 Prostate cancer, hereditary, 7 umls:C1853195 Prostate Cancer, Hereditary, 7 0.21 0 Biomarker CTD_human 100188826 HPC9 Prostate cancer, hereditary, 9 umls:C1970250 Prostate Cancer, Hereditary, 9 0.21 0 Biomarker CTD_human 347747 HPCQTL19 Prostate cancer aggressiveness quantitative trait locus on chromosome 19 umls:C0033578 Prostatic Neoplasms 0.21 0 Biomarker CTD_human 9566 HPCX hereditary prostate cancer, X-linked umls:C1846279 PROSTATE CANCER, HEREDITARY, X-LINKED 1 0.21 0 Biomarker CTD_human 9566 HPCX hereditary prostate cancer, X-linked umls:C0033578 Prostatic Neoplasms 0.21 0 Biomarker CTD_human 100188769 HPCX2 Prostate cancer, hereditary, X-linked 2 umls:C2678047 Prostate Cancer, Hereditary, X-Linked 2 0.21 0 Biomarker CTD_human 3242 HPD 4-hydroxyphenylpyruvate dioxygenase umls:C0860207 Drug-Induced Liver Injury 0.21 2 Biomarker CTD_human 3244 HPE1 holoprosencephaly 1, alobar umls:C0079541 Holoprosencephaly 0.21 0 Biomarker CTD_human 117190 HPE6 holoprosencephaly 6 umls:C0079541 Holoprosencephaly 0.21 0 Biomarker CTD_human 117190 HPE6 holoprosencephaly 6 umls:C1853830 Holoprosencephaly 6 0.21 0 Biomarker CTD_human 619406 HPE8 holoprosencephaly 8 umls:C1836254 Holoprosencephaly 8 0.21 0 Biomarker CTD_human 3248 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) umls:C0206693 Carcinoma, Medullary 0.21 1 Therapeutic CTD_human 3248 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3248 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) umls:C0040136 Thyroid Neoplasms 0.21 1 Therapeutic CTD_human 27259 HPLH1 hemophagocytic lymphohistiocytosis 1 umls:C0024291 Lymphohistiocytosis, Hemophagocytic 0.21 0 Biomarker CTD_human 3249 HPN hepsin umls:C0023794 Lipidoses 0.21 2 Biomarker CTD_human 780897 HPP1 hyperpigmentation, progressive, 1 umls:C1840392 Hyperpigmentation, Familial Progressive 0.21 0 Biomarker CTD_human 100188880 HPRHP Hypophosphatemic rickets and hyperparathyroidism umls:C2677524 Hypophosphatemic Rickets And Hyperparathyroidism 0.21 0 Biomarker CTD_human 84343 HPS3 Hermansky-Pudlak syndrome 3 umls:C2931875 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 0.21 0 Biomarker CTD_human 89781 HPS4 Hermansky-Pudlak syndrome 4 umls:C2931875 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 0.21 0 Biomarker CTD_human 11234 HPS5 Hermansky-Pudlak syndrome 5 umls:C2931875 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 0.21 0 Biomarker CTD_human 79803 HPS6 Hermansky-Pudlak syndrome 6 umls:C2931875 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 0.21 0 Biomarker CTD_human 10855 HPSE heparanase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10855 HPSE heparanase umls:C0023893 Liver Cirrhosis, Experimental 0.21 2 Biomarker CTD_human 10855 HPSE heparanase umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 10855 HPSE heparanase umls:C0027720 Nephrosis 0.21 1 Biomarker CTD_human 3258 HPT hypoparathyroidism umls:C0342344 Hypoparathyroidism, X-Linked 0.21 0 Biomarker CTD_human 3260 HPV18I1 human papilloma virus (type 18) integration site 1 umls:C1415708 human papilloma virus (type 18) integration site 1 0.21 0 Biomarker CTD_human 3261 HPV18I2 human papillomavirus (type 18) integration site 2 umls:C1415709 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2 0.21 0 Biomarker CTD_human 3263 HPX hemopexin umls:C0004364 Autoimmune Diseases 0.21 1 Biomarker CTD_human 3263 HPX hemopexin umls:C0009492 Compartment Syndromes 0.21 1 Therapeutic CTD_human 3263 HPX hemopexin umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 3263 HPX hemopexin umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0007621 Cell Transformation, Neoplastic 0.21 2 Biomarker CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0023904 Liver Neoplasms, Experimental 0.21 3 Biomarker CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0027659 Neoplasms, Experimental 0.21 2 Biomarker CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0027671 Neoplastic Processes 0.21 1 Biomarker CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0030849 Penile Neoplasms 0.21 1 Biomarker CTD_human 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C2931367 Thyroid cancer, follicular 0.21 0 Biomarker CTD_human 3270 HRC histidine rich calcium binding protein umls:C0005910 Body Weight 0.21 1 Biomarker CTD_human 3270 HRC histidine rich calcium binding protein umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 3273 HRG histidine-rich glycoprotein umls:C2751091 Thrombophilia Due To Elevated Histidine-Rich Glycoprotein 0.21 0 Biomarker CTD_human 3269 HRH1 histamine receptor H1 umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 3269 HRH1 histamine receptor H1 umls:C0030193 Pain 0.21 2 Biomarker CTD_human 3269 HRH1 histamine receptor H1 umls:C0033774 Pruritus 0.21 1 Biomarker CTD_human 3269 HRH1 histamine receptor H1 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 3269 HRH1 histamine receptor H1 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 3274 HRH2 histamine receptor H2 umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 3274 HRH2 histamine receptor H2 umls:C0242231 Coronary Stenosis 0.21 1 Biomarker CTD_human 3274 HRH2 histamine receptor H2 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 3274 HRH2 histamine receptor H2 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 3274 HRH2 histamine receptor H2 umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3274 HRH2 histamine receptor H2 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 11255 HRH3 histamine receptor H3 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 59340 HRH4 histamine receptor H4 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 59340 HRH4 histamine receptor H4 umls:C0033774 Pruritus 0.21 1 Biomarker CTD_human 59340 HRH4 histamine receptor H4 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 780919 HRPT3 Hyperparathyroidism 3 umls:C1864729 Hyperparathyroidism 3 0.21 0 Biomarker CTD_human 7974 HRX Hyperreflexia umls:C0034933 Reflex, Abnormal 0.21 0 Biomarker CTD_human 9953 HS3ST3B1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 9951 HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 222537 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 404720 HSCR5 Hirschsprung disease, susceptibility to, 5 umls:C0019569 Hirschsprung Disease 0.21 0 Biomarker CTD_human 246321 HSCR6 Hirschsprung disease, short-segment, 2 umls:C0019569 Hirschsprung Disease 0.21 0 Biomarker CTD_human 246322 HSCR7 Hirschsprung disease, short-segment, 3 umls:C0019569 Hirschsprung Disease 0.21 0 Biomarker CTD_human 404719 HSCR8 Hirschsprung disease modifier 2 umls:C0019569 Hirschsprung Disease 0.21 0 Biomarker CTD_human 100188850 HSCR9 Hirschsprung disease, susceptibility to, 9 umls:C0019569 Hirschsprung Disease 0.21 0 Biomarker CTD_human 3290 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 3290 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 3290 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 umls:C0020456 Hyperglycemia 0.21 1 Biomarker CTD_human 3290 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 3291 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 umls:C0004096 Asthma 0.21 1 Biomarker CTD_human 3291 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 3291 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 umls:C0032962 Pregnancy Complications 0.21 1 Biomarker CTD_human 3292 HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3292 HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3028 HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 3028 HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 umls:C0796223 Mental Retardation, X-Linked 17 0.21 0 Biomarker CTD_human 3294 HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 3294 HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 3293 HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 umls:C0036875 Disorders of Sex Development 0.21 1 Biomarker CTD_human 3293 HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8630 HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 umls:C2931782 Adrenal hyperplasia 2 0.21 0 Biomarker CTD_human 3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 umls:C1456784 Paranoid Disorders 0.21 1 Biomarker CTD_human 84263 HSDL2 hydroxysteroid dehydrogenase like 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 378888 HSN1B Hereditary sensory neuropathy, type IB umls:C1842586 Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux 0.21 0 Biomarker CTD_human 3326 HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 259217 HSPA12A heat shock 70kDa protein 12A umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 51182 HSPA14 heat shock 70kDa protein 14 umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 3303 HSPA1A heat shock 70kDa protein 1A umls:C2609414 Acute Kidney Injury 0.21 2 Biomarker CTD_human 3303 HSPA1A heat shock 70kDa protein 1A umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3303 HSPA1A heat shock 70kDa protein 1A umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 3303 HSPA1A heat shock 70kDa protein 1A umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 3303 HSPA1A heat shock 70kDa protein 1A umls:C0282507 Heat Stress Disorders 0.21 1 Therapeutic CTD_human 3303 HSPA1A heat shock 70kDa protein 1A umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 3303 HSPA1A heat shock 70kDa protein 1A umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3303 HSPA1A heat shock 70kDa protein 1A umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3304 HSPA1B heat shock 70kDa protein 1B umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 3304 HSPA1B heat shock 70kDa protein 1B umls:C1458155 Breast Neoplasms 0.21 1 Therapeutic CTD_human 3304 HSPA1B heat shock 70kDa protein 1B umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 3304 HSPA1B heat shock 70kDa protein 1B umls:C0238288 Muscular Dystrophy, Facioscapulohumeral 0.21 1 Biomarker CTD_human 3306 HSPA2 heat shock 70kDa protein 2 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 3306 HSPA2 heat shock 70kDa protein 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3308 HSPA4 heat shock 70kDa protein 4 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3308 HSPA4 heat shock 70kDa protein 4 umls:C0238288 Muscular Dystrophy, Facioscapulohumeral 0.21 1 Biomarker CTD_human 3309 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 3309 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) umls:C0376545 Hematologic Neoplasms 0.21 1 Biomarker CTD_human 3309 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.21 1 Biomarker CTD_human 3309 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 3312 HSPA8 heat shock 70kDa protein 8 umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 3312 HSPA8 heat shock 70kDa protein 8 umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 3312 HSPA8 heat shock 70kDa protein 8 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 3312 HSPA8 heat shock 70kDa protein 8 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3313 HSPA9 heat shock 70kDa protein 9 (mortalin) umls:C0004364 Autoimmune Diseases 0.21 1 Biomarker CTD_human 3313 HSPA9 heat shock 70kDa protein 9 (mortalin) umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 3313 HSPA9 heat shock 70kDa protein 9 (mortalin) umls:C0376618 Endotoxemia 0.21 1 Biomarker CTD_human 3313 HSPA9 heat shock 70kDa protein 9 (mortalin) umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 3313 HSPA9 heat shock 70kDa protein 9 (mortalin) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3313 HSPA9 heat shock 70kDa protein 9 (mortalin) umls:C0042164 Uveitis 0.21 1 Biomarker CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Biomarker CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0018801 Heart Failure 0.21 1 Therapeutic CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0035126 Reperfusion Injury 0.21 1 Therapeutic CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3315 HSPB1 heat shock 27kDa protein 1 umls:C0040411 Tongue Neoplasms 0.21 1 Biomarker CTD_human 126393 HSPB6 heat shock protein, alpha-crystallin-related, B6 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Therapeutic CTD_human 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C0878544 Cardiomyopathies 0.21 1 Therapeutic CTD_human 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Biomarker CTD_human 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 3329 HSPD1 heat shock 60kDa protein 1 (chaperonin) umls:C0038356 Stomach Neoplasms 0.21 2 Biomarker CTD_human 3336 HSPE1 heat shock 10kDa protein 1 umls:C0878544 Cardiomyopathies 0.21 1 Therapeutic CTD_human 10808 HSPH1 heat shock 105kDa/110kDa protein 1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 3341 HTC1 hypertrichosis 1 (universalis, congenital) umls:C0235864 Congenital hypertrichosis lanuginosa 0.21 0 Biomarker CTD_human 100302716 HTGH Hypertrichosis terminalis, generalized, with or without gingival hyperplasia umls:C1851120 Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia 0.21 0 Biomarker CTD_human 56797 HTGS Hypertriglyceridemia, familial umls:C0020480 Hyperlipoproteinemia Type IV 0.21 0 Biomarker CTD_human 3346 HTN1 histatin 1 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 8080 HTNB hypertension with brachydactyly umls:C1862170 Brachydactyly with hypertension 0.21 0 Biomarker CTD_human 3349 HTOR 5-hydroxytryptamine (serotonin) oxygenase regulator umls:C1415802 5-hydroxytryptamine (serotonin) oxygenase regulator 0.21 0 Biomarker CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0003578 Apnea 0.21 1 Therapeutic CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0428977 Bradycardia 0.21 1 Biomarker CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0015967 Fever 0.21 1 Biomarker CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0036572 Seizures 0.21 3 Biomarker, Therapeutic CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0038356 Stomach Neoplasms 0.21 1 Therapeutic CTD_human 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C0040822 Tremor 0.21 1 Biomarker CTD_human 3351 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled umls:C0236733 Amphetamine-Related Disorders 0.21 1 Therapeutic CTD_human 3351 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker, Therapeutic CTD_human 3351 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 3351 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled umls:C0033975 Psychotic Disorders 0.21 1 Biomarker CTD_human 3351 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 3352 HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0004782 Basal Ganglia Diseases 0.21 1 Biomarker CTD_human 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0236736 Cocaine-Related Disorders 0.21 3 Biomarker CTD_human 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0015967 Fever 0.21 1 Biomarker CTD_human 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0424295 Hyperkinesis 0.21 2 Biomarker CTD_human 3356 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled umls:C0025517 Metabolic Diseases 0.21 1 Biomarker CTD_human 3357 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 3357 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 3357 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled umls:C0018824 Heart Valve Diseases 0.21 4 Biomarker CTD_human 3358 HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled umls:C0424295 Hyperkinesis 0.21 1 Therapeutic CTD_human 3359 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 9177 HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 9177 HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic umls:C0030193 Pain 0.21 1 Biomarker CTD_human 3360 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled umls:C0001627 Adrenal Hyperplasia, Congenital 0.21 1 Biomarker CTD_human 3360 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled umls:C0003123 Anorexia 0.21 1 Biomarker CTD_human 3360 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled umls:C0003811 Arrhythmias, Cardiac 0.21 1 Biomarker CTD_human 3360 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled umls:C0004238 Atrial Fibrillation 0.21 1 Therapeutic CTD_human 3360 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled umls:C0038454 Stroke 0.21 1 Therapeutic CTD_human 3360 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 3362 HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 3362 HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 3362 HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 3363 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 3363 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 3363 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 3363 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled umls:C0030193 Pain 0.21 1 Biomarker CTD_human 3363 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled umls:C0851578 Sleep Disorders 0.21 1 Biomarker CTD_human 27429 HTRA2 HtrA serine peptidase 2 umls:C0007787 Ischemic Attack, Transient 0.21 1 Biomarker CTD_human 3064 HTT huntingtin umls:C0006635 Cadmium Poisoning 0.21 1 Biomarker CTD_human 3064 HTT huntingtin umls:C0677050 Manganese Poisoning 0.21 1 Therapeutic CTD_human 116629 HTX3 Heterotaxy, visceral, 3 umls:C1853444 Heterotaxy, Visceral, 3, Autosomal 0.21 0 Biomarker CTD_human 3364 HUS1 HUS1 checkpoint homolog (S. pombe) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10075 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase umls:C1846168 Mental Retardation, X-Linked, Syndromic 10 0.21 0 Biomarker CTD_human 100415903 HWE1 Epilepsy, hot water, 1 umls:C0393729 Aquagenic epilepsy 0.21 0 Biomarker CTD_human 100415904 HWE2 Epilepsy, hot water, 2 umls:C3150536 EPILEPSY, HOT WATER, 2 0.21 0 Biomarker CTD_human 8137 HYD2 hypodontia 2 (autosomal recessive) umls:C1865092 Tooth Agenesis, Selective, 2 0.21 0 Biomarker CTD_human 100288805 HYDIN2 HYDIN2, axonemal central pair apparatus protein (pseudogene) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 10525 HYOU1 hypoxia up-regulated 1 umls:C1846707 Spinocerebellar Ataxia 17 0.21 1 Biomarker CTD_human 28515 HYPLIP2 hyperlipidemia, combined, 2 umls:C0020474 Hyperlipidemia, Familial Combined 0.21 0 Biomarker CTD_human 117191 HYT1 Hypertension, essential, susceptibility to, 1 umls:C0085580 Hypertension, Essential 0.21 0 Biomarker CTD_human 50986 HYT2 Hypertension, essential, susceptibility to, 2 umls:C0085580 Hypertension, Essential 0.21 0 Biomarker CTD_human 387575 HYT3 Hypertension, essential, susceptibility to, 3 umls:C0085580 Hypertension, Essential 0.21 0 Biomarker CTD_human 444980 HYT4 Hypertension, essential, susceptibility to, 4 umls:C0085580 Hypertension, Essential 0.21 0 Biomarker CTD_human 100188807 HYT5 Hypertension, essential, susceptibility to, 5 umls:C0085580 Hypertension, Essential 0.21 0 Biomarker CTD_human 100188808 HYT6 Hypertension, essential, susceptibility to, 6 umls:C0085580 Hypertension, Essential 0.21 0 Biomarker CTD_human 100188825 HYT7 Hypertension, essential, susceptibility to, 7 umls:C0085580 Hypertension, Essential 0.21 0 Biomarker CTD_human 100188321 HYT8 hypertension, essential, susceptibility to, 8 umls:C0085580 Hypertension, Essential 0.21 0 Biomarker CTD_human 3375 IAPP islet amyloid polypeptide umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 3375 IAPP islet amyloid polypeptide umls:C0038358 Stomach Ulcer 0.21 1 Therapeutic CTD_human 55699 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55699 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 100529151 IBD11 Inflammatory bowel disease 11 umls:C0009324 Colitis, Ulcerative 0.21 0 Biomarker CTD_human 100188952 IBD12 Inflammatory bowel disease 12 umls:C2677105 Inflammatory Bowel Disease 12 0.21 0 Biomarker CTD_human 100190929 IBD15 Inflammatory bowel disease-15 umls:C2677094 Inflammatory Bowel Disease 15 0.21 0 Biomarker CTD_human 100190930 IBD16 Inflammatory bowel disease-16 umls:C2677093 Inflammatory Bowel Disease 16 0.21 0 Biomarker CTD_human 100190931 IBD18 Inflammatory bowel disease-18 umls:C2677090 Inflammatory Bowel Disease 18 0.21 0 Biomarker CTD_human 100190926 IBD19 Inflammatory bowel disease 19 umls:C2677079 Inflammatory Bowel Disease 19 0.21 0 Biomarker CTD_human 3378 IBD2 inflammatory bowel disease 2 umls:C1832321 Inflammatory Bowel Disease 2 0.21 0 Biomarker CTD_human 100190788 IBD20 Inflammatory bowel disease-20 umls:C2676781 Inflammatory Bowel Disease 20 0.21 0 Biomarker CTD_human 100192312 IBD21 Inflammatory bowel disease-21 umls:C2676507 Inflammatory Bowel Disease 21 0.21 0 Biomarker CTD_human 100240732 IBD22 Inflammatory bowel disease-22 umls:C2676485 Inflammatory Bowel Disease 22 0.21 0 Biomarker CTD_human 100240733 IBD23 Inflammatory bowel disease-23 umls:C2676484 Inflammatory Bowel Disease 23 0.21 0 Biomarker CTD_human 100270798 IBD24 Inflammatory bowel disease-24 umls:C2675509 Inflammatory Bowel Disease 24 0.21 0 Biomarker CTD_human 100270799 IBD25 Inflammatory bowel disease-25 umls:C2675508 Inflammatory Bowel Disease 25, Autosomal Recessive 0.21 0 Biomarker CTD_human 100271838 IBD26 Inflammatory bowel disease-26 umls:C2675249 Inflammatory Bowel Disease 26 0.21 0 Biomarker CTD_human 100302059 IBD27 Inflammatory bowel disease-27 umls:C2748550 Inflammatory Bowel Disease 27 0.21 0 Biomarker CTD_human 30829 IBD3 inflammatory bowel disease 3 umls:C1858303 Inflammatory Bowel Disease 3 0.21 0 Biomarker CTD_human 50608 IBD4 inflammatory bowel disease 4 umls:C1847691 Inflammatory Bowel Disease 4 0.21 0 Biomarker CTD_human 50942 IBD6 inflammatory bowel disease 6 umls:C1847692 Inflammatory Bowel Disease 6 0.21 0 Biomarker CTD_human 57042 IBD7 inflammatory bowel disease 7 umls:C1854573 Inflammatory Bowel Disease 7 0.21 0 Biomarker CTD_human 170595 IBD8 inflammatory bowel disease 8 umls:C1847719 Inflammatory Bowel Disease 8 0.21 0 Biomarker CTD_human 317669 IBD9 inflammatory bowel disease 9 umls:C1838019 Inflammatory Bowel Disease 9 0.21 0 Biomarker CTD_human 317669 IBD9 inflammatory bowel disease 9 umls:C0021390 Inflammatory Bowel Diseases 0.21 0 Biomarker CTD_human 3381 IBSP integrin-binding sialoprotein umls:C0221204 Osteolysis 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0085129 Bronchial Hyperreactivity 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0006267 Bronchiectasis 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0019284 Hernia, Diaphragmatic 0.21 2 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0020443 Hypercholesterolemia 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0027720 Nephrosis 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C1855456 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL 0.21 0 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0032231 Pleurisy 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0035126 Reperfusion Injury 0.21 2 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0036982 Shock, Hemorrhagic 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 3383 ICAM1 intercellular adhesion molecule 1 umls:C0042109 Urticaria 0.21 1 Biomarker CTD_human 3384 ICAM2 intercellular adhesion molecule 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3385 ICAM3 intercellular adhesion molecule 3 umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 7087 ICAM5 intercellular adhesion molecule 5, telencephalin umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 79664 ICE2 interactor of little elongation complex ELL subunit 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 79664 ICE2 interactor of little elongation complex ELL subunit 2 umls:C1456784 Paranoid Disorders 0.21 1 Biomarker CTD_human 23463 ICMT isoprenylcysteine carboxyl methyltransferase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3397 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 3397 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 3397 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3397 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3398 ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 3398 ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 3398 ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 3398 ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 3398 ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 3399 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 3400 ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 3400 ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3400 ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3400 ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 3400 ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3410 IDDM11 insulin-dependent diabetes mellitus 11 umls:C1832605 Diabetes Mellitus, Insulin-Dependent, 11 0.21 0 Biomarker CTD_human 3412 IDDM13 insulin-dependent diabetes mellitus 13 umls:C1832474 Diabetes Mellitus, Insulin-Dependent, 13 0.21 0 Biomarker CTD_human 3414 IDDM15 insulin-dependent diabetes mellitus 15 umls:C1866519 Diabetes Mellitus, Insulin-Dependent, 15 0.21 0 Biomarker CTD_human 8691 IDDM17 insulin-dependent diabetes mellitus 17 umls:C1864068 Diabetes Mellitus, Insulin-Dependent, 17 0.21 0 Biomarker CTD_human 57044 IDDM18 insulin-dependent diabetes mellitus 18 umls:C1854125 Diabetes Mellitus, Insulin-Dependent, 18 0.21 0 Biomarker CTD_human 100271697 IDDM23 Diabetes mellitus, insulin-dependent, 23 umls:C2675472 Diabetes Mellitus, Insulin-Dependent, 23 0.21 0 Biomarker CTD_human 100303715 IDDM24 Diabetes mellitus, insulin-dependent, 24 umls:C2751697 Diabetes Mellitus, Insulin-Dependent, 24 0.21 0 Biomarker CTD_human 3402 IDDM3 insulin-dependent diabetes mellitus 3 umls:C1838262 Diabetes Mellitus, Insulin-Dependent, 3 0.21 0 Biomarker CTD_human 3405 IDDM6 insulin-dependent diabetes mellitus 6 umls:C1866041 Diabetes Mellitus, Insulin-Dependent, 6 0.21 0 Biomarker CTD_human 3406 IDDM7 insulin-dependent diabetes mellitus 7 umls:C1838259 Diabetes Mellitus, Insulin-Dependent, 7 0.21 0 Biomarker CTD_human 8245 IDDMX Diabetes mellitus, insulin-dependent, X-linked, susceptibility to umls:C1848042 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 3418 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 3419 IDH3A isocitrate dehydrogenase 3 (NAD+) alpha umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 3420 IDH3B isocitrate dehydrogenase 3 (NAD+) beta umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 3420 IDH3B isocitrate dehydrogenase 3 (NAD+) beta umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3620 IDO1 indoleamine 2,3-dioxygenase 1 umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 8870 IER3 immediate early response 3 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 8870 IER3 immediate early response 3 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 3429 IFI27 interferon, alpha-inducible protein 27 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 10437 IFI30 interferon, gamma-inducible protein 30 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 10437 IFI30 interferon, gamma-inducible protein 30 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 3430 IFI35 interferon-induced protein 35 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3430 IFI35 interferon-induced protein 35 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 10561 IFI44 interferon-induced protein 44 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 10561 IFI44 interferon-induced protein 44 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 10561 IFI44 interferon-induced protein 44 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10964 IFI44L interferon-induced protein 44-like umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 2537 IFI6 interferon, alpha-inducible protein 6 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 2537 IFI6 interferon, alpha-inducible protein 6 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 64135 IFIH1 interferon induced with helicase C domain 1 umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 3434 IFIT1 interferon-induced protein with tetratricopeptide repeats 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3433 IFIT2 interferon-induced protein with tetratricopeptide repeats 2 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 3437 IFIT3 interferon-induced protein with tetratricopeptide repeats 3 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 24138 IFIT5 interferon-induced protein with tetratricopeptide repeats 5 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0001175 Acquired Immunodeficiency Syndrome 0.21 1 Biomarker CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Therapeutic CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 3 Therapeutic CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0030297 Pancreatic Neoplasms 0.21 2 Therapeutic CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0042258 Vaginal Neoplasms 0.21 1 Therapeutic CTD_human 3439 IFNA1 interferon, alpha 1 umls:C0011993 Vipoma 0.21 1 Therapeutic CTD_human 3446 IFNA10 interferon, alpha 10 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0000737 Abdominal Pain 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0002878 Anemia, Hemolytic 0.21 3 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0003123 Anorexia 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0085593 Chills 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0009404 Colorectal Neoplasms 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0011991 Diarrhea 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0015967 Fever 0.21 2 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0206608 Flavivirus Infections 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0018681 Headache 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0206732 Hemangioendothelioma, Epithelioid 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0020557 Hypertriglyceridemia 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0021845 Intestinal Perforation 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0023493 Leukemia-Lymphoma, Adult T-Cell 0.21 2 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0023530 Leukopenia 0.21 5 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0024301 Lymphoma, Follicular 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0024305 Lymphoma, Non-Hodgkin 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0025287 Meningism 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0004936 Mental Disorders 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0027497 Nausea 0.21 3 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0027947 Neutropenia 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0155305 Optic Neuropathy, Ischemic 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0030193 Pain 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0030297 Pancreatic Neoplasms 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0033999 Pterygium 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0034734 Raynaud Disease 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C1565489 Renal Insufficiency 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0035305 Retinal Detachment 0.21 2 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0035309 Retinal Diseases 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0243026 Sepsis 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0037650 Somatoform Disorders 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0038362 Stomatitis 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0040034 Thrombocytopenia 0.21 4 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0040136 Thyroid Neoplasms 0.21 1 Therapeutic CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0040264 Tinnitus 0.21 1 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0042170 Uveomeningoencephalitic Syndrome 0.21 4 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0042963 Vomiting 0.21 2 Biomarker CTD_human 3440 IFNA2 interferon, alpha 2 umls:C0043096 Weight Loss 0.21 1 Biomarker CTD_human 3442 IFNA5 interferon, alpha 5 umls:C0030297 Pancreatic Neoplasms 0.21 1 Therapeutic CTD_human 3456 IFNB1 interferon, beta 1, fibroblast umls:C0003463 Anus Neoplasms 0.21 2 Therapeutic CTD_human 3456 IFNB1 interferon, beta 1, fibroblast umls:C0206735 Melanoma, Amelanotic 0.21 1 Therapeutic CTD_human 3456 IFNB1 interferon, beta 1, fibroblast umls:C0025205 Melanoma, Experimental 0.21 1 Therapeutic CTD_human 3456 IFNB1 interferon, beta 1, fibroblast umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0162309 Adrenoleukodystrophy 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0003615 Appendicitis 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0003869 Arthritis, Infectious 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0006111 Brain Diseases 0.21 1 Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C0085593 Chills 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0009375 Colonic Neoplasms 0.21 1 Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C0012644 Disease Models, Animal 0.21 1 Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C0860207 Drug-Induced Liver Injury 0.21 2 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0014324 Entamoebiasis 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0015423 Eyelid Diseases 0.21 1 Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C0015967 Fever 0.21 2 Biomarker, Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C0018790 Heart Arrest 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0020625 Hyponatremia 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0020951 Immune Complex Diseases 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0023241 Legionnaires' Disease 0.21 1 Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C1328252 Leishmaniasis, Mucocutaneous 0.21 1 Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C0023893 Liver Cirrhosis, Experimental 0.21 4 Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C0677050 Manganese Poisoning 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0027497 Nausea 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0027540 Necrosis 0.21 2 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0027659 Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C0027746 Nerve Degeneration 0.21 3 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0027794 Neural Tube Defects 0.21 1 Therapeutic CTD_human 3458 IFNG interferon, gamma umls:C0029172 Oral Submucous Fibrosis 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0033687 Proteinuria 0.21 2 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0034531 Radiation Injuries, Experimental 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0036118 Salmonella Infections, Animal 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0040954 Trichuriasis 0.21 1 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C1854465 Tuberous Sclerosis 1 0.21 0 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C1860707 Tuberous Sclerosis 2 0.21 0 Biomarker CTD_human 3458 IFNG interferon, gamma umls:C0042963 Vomiting 0.21 1 Biomarker CTD_human 3459 IFNGR1 interferon gamma receptor 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3459 IFNGR1 interferon gamma receptor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3459 IFNGR1 interferon gamma receptor 1 umls:C0026919 Mycobacterium Infections, Nontuberculous 0.21 0 Biomarker CTD_human 3459 IFNGR1 interferon gamma receptor 1 umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 3459 IFNGR1 interferon gamma receptor 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3460 IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) umls:C0026919 Mycobacterium Infections, Nontuberculous 0.21 0 Biomarker CTD_human 3460 IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 282617 IFNL3 interferon, lambda 3 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 282617 IFNL3 interferon, lambda 3 umls:C1168401 Carcinoma, squamous cell of head and neck 0.21 1 Therapeutic CTD_human 282617 IFNL3 interferon, lambda 3 umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 282617 IFNL3 interferon, lambda 3 umls:C0016470 Food Hypersensitivity 0.21 1 Biomarker CTD_human 55764 IFT122 intraflagellar transport 122 umls:C0008780 Ciliary Motility Disorders 0.21 1 Biomarker CTD_human 55764 IFT122 intraflagellar transport 122 umls:C0010278 Craniosynostoses 0.21 1 Biomarker CTD_human 55764 IFT122 intraflagellar transport 122 umls:C0013608 Edema, Cardiac 0.21 1 Biomarker CTD_human 55764 IFT122 intraflagellar transport 122 umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 55764 IFT122 intraflagellar transport 122 umls:C0020255 Hydrocephalus 0.21 1 Biomarker CTD_human 55764 IFT122 intraflagellar transport 122 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 55764 IFT122 intraflagellar transport 122 umls:C0037932 Spinal Curvatures 0.21 1 Biomarker CTD_human 57560 IFT80 intraflagellar transport 80 umls:C0004044 Asphyxia 0.21 1 Biomarker CTD_human 57560 IFT80 intraflagellar transport 80 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 57560 IFT80 intraflagellar transport 80 umls:C1691228 Kidney Diseases, Cystic 0.21 1 Biomarker CTD_human 57560 IFT80 intraflagellar transport 80 umls:C0152427 Polydactyly 0.21 1 Biomarker CTD_human 57560 IFT80 intraflagellar transport 80 umls:C0035229 Respiratory Insufficiency 0.21 1 Biomarker CTD_human 57560 IFT80 intraflagellar transport 80 umls:C0035304 Retinal Degeneration 0.21 1 Biomarker CTD_human 57560 IFT80 intraflagellar transport 80 umls:C0039978 Thoracic Diseases 0.21 1 Biomarker CTD_human 8100 IFT88 intraflagellar transport 88 umls:C0152427 Polydactyly 0.21 1 Biomarker CTD_human 8100 IFT88 intraflagellar transport 88 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 7927 IGAT Immune response to synthetic polypeptide--IRGAT umls:C1840267 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT 0.21 0 Biomarker CTD_human 3476 IGBP1 immunoglobulin (CD79A) binding protein 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3476 IGBP1 immunoglobulin (CD79A) binding protein 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 3476 IGBP1 immunoglobulin (CD79A) binding protein 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3476 IGBP1 immunoglobulin (CD79A) binding protein 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C2609414 Acute Kidney Injury 0.21 1 Therapeutic CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0010034 Corneal Diseases 0.21 1 Therapeutic CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0011303 Demyelinating Diseases 0.21 1 Therapeutic CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0853897 Diabetic Cardiomyopathies 0.21 1 Therapeutic CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Therapeutic CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0020429 Hyperalgesia 0.21 1 Therapeutic CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0023893 Liver Cirrhosis, Experimental 0.21 2 Therapeutic CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0024668 Mammary Neoplasms, Experimental 0.21 3 Biomarker CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0027746 Nerve Degeneration 0.21 2 Therapeutic CTD_human 3479 IGF1 insulin-like growth factor 1 (somatomedin C) umls:C0031117 Peripheral Nervous System Diseases 0.21 2 Therapeutic CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0235833 Hernias, Diaphragmatic, Congenital 0.21 2 Biomarker CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0024115 Lung Diseases 0.21 2 Biomarker CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0035229 Respiratory Insufficiency 0.21 1 Biomarker CTD_human 3480 IGF1R insulin-like growth factor 1 receptor umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0002871 Anemia 0.21 1 Therapeutic CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0009241 Cognition Disorders 0.21 1 Therapeutic CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0025261 Memory Disorders 0.21 1 Therapeutic CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0032045 Placenta Diseases 0.21 1 Biomarker CTD_human 3481 IGF2 insulin-like growth factor 2 umls:C0020224 Polyhydramnios 0.21 1 Biomarker CTD_human 10643 IGF2BP3 insulin-like growth factor 2 mRNA binding protein 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3482 IGF2R insulin-like growth factor 2 receptor umls:C0235833 Hernias, Diaphragmatic, Congenital 0.21 2 Biomarker CTD_human 3482 IGF2R insulin-like growth factor 2 receptor umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 3482 IGF2R insulin-like growth factor 2 receptor umls:C0024115 Lung Diseases 0.21 2 Biomarker CTD_human 3482 IGF2R insulin-like growth factor 2 receptor umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 3483 IGFALS insulin-like growth factor binding protein, acid labile subunit umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 3484 IGFBP1 insulin-like growth factor binding protein 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3484 IGFBP1 insulin-like growth factor binding protein 1 umls:C2609414 Acute Kidney Injury 0.21 1 Therapeutic CTD_human 3484 IGFBP1 insulin-like growth factor binding protein 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 3484 IGFBP1 insulin-like growth factor binding protein 1 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 3484 IGFBP1 insulin-like growth factor binding protein 1 umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 3484 IGFBP1 insulin-like growth factor binding protein 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 3484 IGFBP1 insulin-like growth factor binding protein 1 umls:C0032927 Precancerous Conditions 0.21 1 Therapeutic CTD_human 3485 IGFBP2 insulin-like growth factor binding protein 2, 36kDa umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 3485 IGFBP2 insulin-like growth factor binding protein 2, 36kDa umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 3485 IGFBP2 insulin-like growth factor binding protein 2, 36kDa umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 3485 IGFBP2 insulin-like growth factor binding protein 2, 36kDa umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 3486 IGFBP3 insulin-like growth factor binding protein 3 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3488 IGFBP5 insulin-like growth factor binding protein 5 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 3489 IGFBP6 insulin-like growth factor binding protein 6 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3489 IGFBP6 insulin-like growth factor binding protein 6 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3489 IGFBP6 insulin-like growth factor binding protein 6 umls:C0033578 Prostatic Neoplasms 0.21 1 Therapeutic CTD_human 3490 IGFBP7 insulin-like growth factor binding protein 7 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3500 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) umls:C0027121 Myositis 0.21 1 Biomarker CTD_human 3500 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3500 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 3501 IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) umls:C0027121 Myositis 0.21 1 Biomarker CTD_human 3507 IGHM immunoglobulin heavy constant mu umls:C3152144 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 0.21 0 Biomarker CTD_human 3508 IGHMBP2 immunoglobulin mu binding protein 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3514 IGKC immunoglobulin kappa constant umls:C0013374 Dysgammaglobulinemia 0.21 1 Biomarker CTD_human 3514 IGKC immunoglobulin kappa constant umls:C0027121 Myositis 0.21 1 Biomarker CTD_human 3547 IGSF1 immunoglobulin superfamily, member 1 umls:C0010308 Congenital Hypothyroidism 0.21 1 Biomarker CTD_human 3547 IGSF1 immunoglobulin superfamily, member 1 umls:C0039584 Testicular Diseases 0.21 1 Biomarker CTD_human 150084 IGSF5 immunoglobulin superfamily, member 5 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10261 IGSF6 immunoglobulin superfamily, member 6 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 100188864 IH Hemihypertrophy umls:C1856184 Hemihyperplasia, Isolated 0.21 0 Biomarker CTD_human 3548 IHG1 iris hypoplasia with glaucoma 1 umls:C1839928 Iris hypoplasia and glaucoma 0.21 0 Biomarker CTD_human 3549 IHH indian hedgehog umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3549 IHH indian hedgehog umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 780923 IHPS2 Pyloric stenosis, infantile hypertrophic, 2 umls:C1853228 Pyloric Stenosis, Infantile Hypertrophic, 2 0.21 0 Biomarker CTD_human 100188876 IHPS3 Pyloric stenosis, infantile hypertrophic, 3 umls:C2677588 Pyloric Stenosis, Infantile Hypertrophic, 3 0.21 0 Biomarker CTD_human 100188772 IHPS4 Pyloric stenosis, infantile hypertrophic, 4 umls:C2678037 Pyloric Stenosis, Infantile Hypertrophic, 4 0.21 0 Biomarker CTD_human 100270639 IHPS5 Pyloric stenosis, infantile hypertrophic, 5 umls:C2675862 Pyloric Stenosis, Infantile Hypertrophic, 5 0.21 0 Biomarker CTD_human 8517 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 8517 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 10320 IKZF1 IKAROS family zinc finger 1 (Ikaros) umls:C0009324 Colitis, Ulcerative 0.21 1 Biomarker CTD_human 22806 IKZF3 IKAROS family zinc finger 3 (Aiolos) umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 64375 IKZF4 IKAROS family zinc finger 4 (Eos) umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 3586 IL10 interleukin 10 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 3586 IL10 interleukin 10 umls:C0003615 Appendicitis 0.21 1 Biomarker CTD_human 3586 IL10 interleukin 10 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3586 IL10 interleukin 10 umls:C0014324 Entamoebiasis 0.21 1 Biomarker CTD_human 3586 IL10 interleukin 10 umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 3586 IL10 interleukin 10 umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 3586 IL10 interleukin 10 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3586 IL10 interleukin 10 umls:C0333355 Mucositis 0.21 1 Biomarker CTD_human 3586 IL10 interleukin 10 umls:C0032231 Pleurisy 0.21 1 Biomarker CTD_human 3587 IL10RA interleukin 10 receptor, alpha umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3587 IL10RA interleukin 10 receptor, alpha umls:C0023290 Leishmaniasis, Visceral 0.21 1 Therapeutic CTD_human 3588 IL10RB interleukin 10 receptor, beta umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 3589 IL11 interleukin 11 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3589 IL11 interleukin 11 umls:C0010692 Cystitis 0.21 1 Therapeutic CTD_human 3589 IL11 interleukin 11 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 3589 IL11 interleukin 11 umls:C0013604 Edema 0.21 1 Therapeutic CTD_human 3589 IL11 interleukin 11 umls:C0019080 Hemorrhage 0.21 1 Therapeutic CTD_human 3589 IL11 interleukin 11 umls:C0023895 Liver Diseases 0.21 1 Therapeutic CTD_human 3590 IL11RA interleukin 11 receptor, alpha umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3590 IL11RA interleukin 11 receptor, alpha umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 3592 IL12A interleukin 12A umls:C0017638 Glioma 0.21 1 Therapeutic CTD_human 3592 IL12A interleukin 12A umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 3592 IL12A interleukin 12A umls:C0027659 Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 3592 IL12A interleukin 12A umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 3593 IL12B interleukin 12B umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3593 IL12B interleukin 12B umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 3593 IL12B interleukin 12B umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 3593 IL12B interleukin 12B umls:C0023903 Liver Neoplasms 0.21 1 Therapeutic CTD_human 3593 IL12B interleukin 12B umls:C0026919 Mycobacterium Infections, Nontuberculous 0.21 0 Biomarker CTD_human 3593 IL12B interleukin 12B umls:C0027659 Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 3593 IL12B interleukin 12B umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 3594 IL12RB1 interleukin 12 receptor, beta 1 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 3595 IL12RB2 interleukin 12 receptor, beta 2 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3596 IL13 interleukin 13 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3596 IL13 interleukin 13 umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 3596 IL13 interleukin 13 umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 3596 IL13 interleukin 13 umls:C0025568 Metaplasia 0.21 1 Biomarker CTD_human 3596 IL13 interleukin 13 umls:C0037199 Sinusitis 0.21 1 Biomarker CTD_human 3597 IL13RA1 interleukin 13 receptor, alpha 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3598 IL13RA2 interleukin 13 receptor, alpha 2 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3600 IL15 interleukin 15 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3600 IL15 interleukin 15 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 3603 IL16 interleukin 16 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3605 IL17A interleukin 17A umls:C0007682 Central Nervous System Diseases 0.21 1 Biomarker CTD_human 3605 IL17A interleukin 17A umls:C0860207 Drug-Induced Liver Injury 0.21 2 Biomarker CTD_human 3605 IL17A interleukin 17A umls:C0023487 Leukemia, Promyelocytic, Acute 0.21 1 Biomarker CTD_human 3605 IL17A interleukin 17A umls:C0024314 Lymphoproliferative Disorders 0.21 1 Biomarker CTD_human 3605 IL17A interleukin 17A umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 23765 IL17RA interleukin 17 receptor A umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 54756 IL17RD interleukin 17 receptor D umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 54756 IL17RD interleukin 17 receptor D umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 54756 IL17RD interleukin 17 receptor D umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3606 IL18 interleukin 18 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 3606 IL18 interleukin 18 umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 3606 IL18 interleukin 18 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 3606 IL18 interleukin 18 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 3606 IL18 interleukin 18 umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 3606 IL18 interleukin 18 umls:C0023281 Leishmaniasis 0.21 1 Biomarker CTD_human 3606 IL18 interleukin 18 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 3606 IL18 interleukin 18 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3606 IL18 interleukin 18 umls:C0034531 Radiation Injuries, Experimental 0.21 1 Biomarker CTD_human 8809 IL18R1 interleukin 18 receptor 1 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0002622 Amnesia 0.21 1 Therapeutic CTD_human 3552 IL1A interleukin 1, alpha umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0006434 Burns 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0006435 Burns, Chemical 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0206637 Chondrosarcoma, Mesenchymal 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0011991 Diarrhea 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 3552 IL1A interleukin 1, alpha umls:C0015967 Fever 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0019061 Hemolytic-Uremic Syndrome 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0343755 HIV Wasting Syndrome 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0022541 Kearns-Sayre Syndrome 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0162671 MELAS Syndrome 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0162672 MERRF Syndrome 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0162670 Mitochondrial Myopathies 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0162674 Ophthalmoplegia, Chronic Progressive External 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0917796 Optic Atrophy, Hereditary, Leber 0.21 1 Biomarker CTD_human 3552 IL1A interleukin 1, alpha umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0006435 Burns, Chemical 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0014324 Entamoebiasis 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0019061 Hemolytic-Uremic Syndrome 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0343755 HIV Wasting Syndrome 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0020452 Hyperemia 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0022541 Kearns-Sayre Syndrome 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0023283 Leishmaniasis, Cutaneous 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0023380 Lethargy 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0023518 Leukocytosis 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0024312 Lymphopenia 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0677050 Manganese Poisoning 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0162671 MELAS Syndrome 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0162672 MERRF Syndrome 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0162670 Mitochondrial Myopathies 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0027540 Necrosis 0.21 3 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0162674 Ophthalmoplegia, Chronic Progressive External 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0917796 Optic Atrophy, Hereditary, Leber 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0034531 Radiation Injuries, Experimental 0.21 1 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0035126 Reperfusion Injury 0.21 5 Biomarker CTD_human 3553 IL1B interleukin 1, beta umls:C0851578 Sleep Disorders 0.21 1 Biomarker CTD_human 3554 IL1R1 interleukin 1 receptor, type I umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3554 IL1R1 interleukin 1 receptor, type I umls:C0006435 Burns, Chemical 0.21 1 Biomarker CTD_human 3554 IL1R1 interleukin 1 receptor, type I umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 3554 IL1R1 interleukin 1 receptor, type I umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 7850 IL1R2 interleukin 1 receptor, type II umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 7850 IL1R2 interleukin 1 receptor, type II umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 7850 IL1R2 interleukin 1 receptor, type II umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 7850 IL1R2 interleukin 1 receptor, type II umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 3556 IL1RAP interleukin 1 receptor accessory protein umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 11141 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 11141 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 9173 IL1RL1 interleukin 1 receptor-like 1 umls:C0242488 Acute Lung Injury 0.21 1 Therapeutic CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0015379 Extravasation of Diagnostic and Therapeutic Materials 0.21 1 Biomarker CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0016059 Fibrosis 0.21 1 Therapeutic CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0333355 Mucositis 0.21 1 Therapeutic CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0027540 Necrosis 0.21 2 Therapeutic CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0033687 Proteinuria 0.21 1 Therapeutic CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0036429 Sclerosis 0.21 1 Therapeutic CTD_human 3557 IL1RN interleukin 1 receptor antagonist umls:C0038220 Status Epilepticus 0.21 1 Therapeutic CTD_human 3558 IL2 interleukin 2 umls:C0002622 Amnesia 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0002871 Anemia 0.21 1 Therapeutic CTD_human 3558 IL2 interleukin 2 umls:C0003123 Anorexia 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0004093 Asthenia 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0004352 Autistic Disorder 0.21 2 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0014324 Entamoebiasis 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0015967 Fever 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0023530 Leukopenia 0.21 1 Therapeutic CTD_human 3558 IL2 interleukin 2 umls:C0027659 Neoplasms, Experimental 0.21 3 Therapeutic CTD_human 3558 IL2 interleukin 2 umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 3558 IL2 interleukin 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3558 IL2 interleukin 2 umls:C0042258 Vaginal Neoplasms 0.21 1 Therapeutic CTD_human 50604 IL20 interleukin 20 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 53832 IL20RA interleukin 20 receptor, alpha umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 50615 IL21R interleukin 21 receptor umls:C1840253 Ige Responsiveness, Atopic 0.21 0 Biomarker CTD_human 50616 IL22 interleukin 22 umls:C0860207 Drug-Induced Liver Injury 0.21 3 Therapeutic CTD_human 50616 IL22 interleukin 22 umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 149233 IL23R interleukin 23 receptor umls:C2677091 Inflammatory Bowel Disease 17 0.21 0 Biomarker CTD_human 11009 IL24 interleukin 24 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3559 IL2RA interleukin 2 receptor, alpha umls:C0005138 Berylliosis 0.21 1 Biomarker CTD_human 3559 IL2RA interleukin 2 receptor, alpha umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 3559 IL2RA interleukin 2 receptor, alpha umls:C1866040 Diabetes Mellitus, Insulin-Dependent, 10 0.21 0 Biomarker CTD_human 3559 IL2RA interleukin 2 receptor, alpha umls:C0017658 Glomerulonephritis 0.21 1 Biomarker CTD_human 3560 IL2RB interleukin 2 receptor, beta umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 3560 IL2RB interleukin 2 receptor, beta umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 3562 IL3 interleukin 3 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Therapeutic CTD_human 3562 IL3 interleukin 3 umls:C0023530 Leukopenia 0.21 1 Therapeutic CTD_human 3562 IL3 interleukin 3 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 3562 IL3 interleukin 3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3562 IL3 interleukin 3 umls:C0040034 Thrombocytopenia 0.21 1 Therapeutic CTD_human 133396 IL31RA interleukin 31 receptor A umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 9235 IL32 interleukin 32 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 90865 IL33 interleukin 33 umls:C0020523 Hypersensitivity, Immediate 0.21 1 Biomarker CTD_human 90865 IL33 interleukin 33 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 146433 IL34 interleukin 34 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 3565 IL4 interleukin 4 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 3565 IL4 interleukin 4 umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 3565 IL4 interleukin 4 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 3565 IL4 interleukin 4 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 3565 IL4 interleukin 4 umls:C0032273 Pneumoconiosis 0.21 1 Biomarker CTD_human 3565 IL4 interleukin 4 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 3565 IL4 interleukin 4 umls:C0035234 Respiratory Sounds 0.21 1 Biomarker CTD_human 3565 IL4 interleukin 4 umls:C0041307 Tuberculosis, Bovine 0.21 1 Therapeutic CTD_human 3566 IL4R interleukin 4 receptor umls:C1840253 Ige Responsiveness, Atopic 0.21 0 Biomarker CTD_human 3567 IL5 interleukin 5 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3567 IL5 interleukin 5 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 3567 IL5 interleukin 5 umls:C0014324 Entamoebiasis 0.21 1 Biomarker CTD_human 3568 IL5RA interleukin 5 receptor, alpha umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3568 IL5RA interleukin 5 receptor, alpha umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 3568 IL5RA interleukin 5 receptor, alpha umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C2609414 Acute Kidney Injury 0.21 1 Therapeutic CTD_human 3569 IL6 interleukin 6 umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0005138 Berylliosis 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0006435 Burns, Chemical 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0014324 Entamoebiasis 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0343755 HIV Wasting Syndrome 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0020500 Hyperoxaluria 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0020503 Hyperparathyroidism, Secondary 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0239981 Hypoalbuminemia 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0023281 Leishmaniasis 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0162848 Lichenoid Eruptions 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0025290 Meningitis, Aseptic 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0162670 Mitochondrial Myopathies 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0032231 Pleurisy 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0032963 Pregnancy Complications, Cardiovascular 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 3569 IL6 interleukin 6 umls:C0242698 Ventricular Dysfunction, Left 0.21 1 Biomarker CTD_human 3570 IL6R interleukin 6 receptor umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 3570 IL6R interleukin 6 receptor umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3572 IL6ST interleukin 6 signal transducer umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 3572 IL6ST interleukin 6 signal transducer umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 3572 IL6ST interleukin 6 signal transducer umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3572 IL6ST interleukin 6 signal transducer umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3572 IL6ST interleukin 6 signal transducer umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3572 IL6ST interleukin 6 signal transducer umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 3574 IL7 interleukin 7 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3575 IL7R interleukin 7 receptor umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3575 IL7R interleukin 7 receptor umls:C0009324 Colitis, Ulcerative 0.21 1 Biomarker CTD_human 3575 IL7R interleukin 7 receptor umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3575 IL7R interleukin 7 receptor umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 3575 IL7R interleukin 7 receptor umls:C1833275 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 0.21 0 Biomarker CTD_human 3578 IL9 interleukin 9 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3578 IL9 interleukin 9 umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 3578 IL9 interleukin 9 umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 3581 IL9R interleukin 9 receptor umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3581 IL9R interleukin 9 receptor umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 3608 ILF2 interleukin enhancer binding factor 2 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 3611 ILK integrin-linked kinase umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker CTD_human 3611 ILK integrin-linked kinase umls:C0009376 Colonic Polyps 0.21 1 Biomarker CTD_human 3611 ILK integrin-linked kinase umls:C0014544 Epilepsy 0.21 1 Therapeutic CTD_human 3611 ILK integrin-linked kinase umls:C0007787 Ischemic Attack, Transient 0.21 1 Biomarker CTD_human 3611 ILK integrin-linked kinase umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 10989 IMMT inner membrane protein, mitochondrial umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 3612 IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3612 IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 3613 IMPA2 inositol(myo)-1(or 4)-monophosphatase 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 54928 IMPAD1 inositol monophosphatase domain containing 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9118 INA internexin neuronal intermediate filament protein, alpha umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 9118 INA internexin neuronal intermediate filament protein, alpha umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 10207 INADL InaD-like (Drosophila) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10207 INADL InaD-like (Drosophila) umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 3619 INCENP inner centromere protein antigens 135/155kDa umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8259 INDX Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury umls:C1848144 Woods Black Norbury syndrome 0.21 0 Biomarker CTD_human 3621 ING1 inhibitor of growth family, member 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 3621 ING1 inhibitor of growth family, member 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3623 INHA inhibin, alpha umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3624 INHBA inhibin, beta A umls:C0023267 Leiomyoma 0.21 1 Biomarker CTD_human 3624 INHBA inhibin, beta A umls:C0162557 Liver Failure, Acute 0.21 1 Biomarker CTD_human 3624 INHBA inhibin, beta A umls:C0042138 Uterine Neoplasms 0.21 1 Biomarker CTD_human 83729 INHBE inhibin, beta E umls:C0023794 Lipidoses 0.21 1 Biomarker CTD_human 83729 INHBE inhibin, beta E umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 3628 INPP1 inositol polyphosphate-1-phosphatase umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3631 INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 3632 INPP5A inositol polyphosphate-5-phosphatase, 40kDa umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 56623 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa umls:C0008780 Ciliary Motility Disorders 0.21 2 Biomarker CTD_human 56623 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa umls:C0015398 Eye Diseases, Hereditary 0.21 1 Biomarker CTD_human 56623 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 56623 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 56623 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa umls:C0030846 Penile Diseases 0.21 1 Biomarker CTD_human 3630 INS insulin umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 3630 INS insulin umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 3630 INS insulin umls:C0029227 Delirium, Dementia, Amnestic, Cognitive Disorders 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0013604 Edema 0.21 1 Biomarker CTD_human 3630 INS insulin umls:C0018790 Heart Arrest 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0020429 Hyperalgesia 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0020461 Hyperkalemia 0.21 2 Biomarker, Therapeutic CTD_human 3630 INS insulin umls:C0020621 Hypokalemia 0.21 1 Biomarker CTD_human 3630 INS insulin umls:C0020649 Hypotension 0.21 3 Biomarker, Therapeutic CTD_human 3630 INS insulin umls:C1691228 Kidney Diseases, Cystic 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0025261 Memory Disorders 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0027794 Neural Tube Defects 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0030319 Panic Disorder 0.21 1 Biomarker CTD_human 3630 INS insulin umls:C0522224 Paralysis 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0030554 Paresthesia 0.21 1 Biomarker CTD_human 3630 INS insulin umls:C0035410 Rhabdomyolysis 0.21 1 Biomarker CTD_human 3630 INS insulin umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 3630 INS insulin umls:C2931332 Telomeric 22q13 Monosomy Syndrome 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0005686 Urinary Bladder Diseases 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0242698 Ventricular Dysfunction, Left 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0042510 Ventricular Fibrillation 0.21 1 Therapeutic CTD_human 3630 INS insulin umls:C0042512 Ventricular Outflow Obstruction 0.21 1 Biomarker CTD_human 3638 INSIG1 insulin induced gene 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 3638 INSIG1 insulin induced gene 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3638 INSIG1 insulin induced gene 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3643 INSR insulin receptor umls:C0235833 Hernias, Diaphragmatic, Congenital 0.21 1 Biomarker CTD_human 3643 INSR insulin receptor umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 3643 INSR insulin receptor umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 3643 INSR insulin receptor umls:C0024115 Lung Diseases 0.21 2 Biomarker CTD_human 3643 INSR insulin receptor umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 3643 INSR insulin receptor umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 3645 INSRR insulin receptor-related receptor umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 51447 IP6K2 inositol hexakisphosphate kinase 2 umls:C0020179 Huntington Disease 0.21 1 Biomarker CTD_human 26034 IPCEF1 interaction protein for cytohesin exchange factors 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 26034 IPCEF1 interaction protein for cytohesin exchange factors 1 umls:C0023448 Leukemia, Lymphoid 0.21 1 Biomarker CTD_human 51194 IPO11 importin 11 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 10527 IPO7 importin 7 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8268 IPOX Intestinal pseudoobstruction, neuronal, primary idiopathic umls:C2746068 Congenital idiopathic intestinal pseudoobstruction 0.21 0 Biomarker CTD_human 55721 IQCC IQ motif containing C umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 64799 IQCH IQ motif containing H umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8826 IQGAP1 IQ motif containing GTPase activating protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8826 IQGAP1 IQ motif containing GTPase activating protein 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 134728 IRAK1BP1 interleukin-1 receptor-associated kinase 1 binding protein 1 umls:C1527336 Sjogren's Syndrome 0.21 1 Biomarker CTD_human 51135 IRAK4 interleukin-1 receptor-associated kinase 4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3658 IREB2 iron-responsive element binding protein 2 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 3659 IRF1 interferon regulatory factor 1 umls:C0024121 Lung Neoplasms 0.21 0 Biomarker CTD_human 3659 IRF1 interferon regulatory factor 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3659 IRF1 interferon regulatory factor 1 umls:C0038454 Stroke 0.21 1 Biomarker CTD_human 3662 IRF4 interferon regulatory factor 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3663 IRF5 interferon regulatory factor 5 umls:C2677100 Inflammatory Bowel Disease 14 0.21 0 Biomarker CTD_human 3664 IRF6 interferon regulatory factor 6 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 3664 IRF6 interferon regulatory factor 6 umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 3664 IRF6 interferon regulatory factor 6 umls:C0037268 Skin Abnormalities 0.21 1 Biomarker CTD_human 3665 IRF7 interferon regulatory factor 7 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 3394 IRF8 interferon regulatory factor 8 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 345611 IRGM immunity-related GTPase family, M umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 3667 IRS1 insulin receptor substrate 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3667 IRS1 insulin receptor substrate 1 umls:C0020473 Hyperlipidemias 0.21 1 Biomarker CTD_human 3667 IRS1 insulin receptor substrate 1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 8660 IRS2 insulin receptor substrate 2 umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 8660 IRS2 insulin receptor substrate 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 79192 IRX1 iroquois homeobox 1 umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 153572 IRX2 iroquois homeobox 2 umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 79191 IRX3 iroquois homeobox 3 umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 50805 IRX4 iroquois homeobox 4 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 50805 IRX4 iroquois homeobox 4 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C0271901 Anemia, hypochromic microcytic 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C0399352 Anodontia 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C0016658 Fractures, Bone 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C1876203 Frontonasal dysplasia 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C0018784 Hearing Loss, Sensorineural 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C0022904 Lacrimal Apparatus Diseases 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 10265 IRX5 iroquois homeobox 5 umls:C0027092 Myopia 0.21 1 Biomarker CTD_human 260402 IS1 Adolescent idiopathic scoliosis umls:C2700406 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 282552 IS2 Scoliosis, idiopathic 2 umls:C1846366 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2 0.21 0 Biomarker CTD_human 100190785 IS4 Scoliosis, idiopathic, susceptibility to, 4 umls:C2677108 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4 0.21 0 Biomarker CTD_human 100190985 IS5 scoliosis, idiopathic, susceptibility to, 5 umls:C2677107 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5 0.21 0 Biomarker CTD_human 7928 ISCW Immune suppression to streptococcal antigen umls:C1840264 IMMUNE SUPPRESSION 0.21 0 Biomarker CTD_human 79763 ISOC2 isochorismatase domain containing 2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 729920 ISPD isoprenoid synthase domain containing umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 729920 ISPD isoprenoid synthase domain containing umls:C0020255 Hydrocephalus 0.21 1 Biomarker CTD_human 729920 ISPD isoprenoid synthase domain containing umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 51477 ISYNA1 inositol-3-phosphate synthase 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 51477 ISYNA1 inositol-3-phosphate synthase 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 51477 ISYNA1 inositol-3-phosphate synthase 1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 100188785 ITC1 hypertrichosis universalis congenita, Ambras type umls:C1840362 Ambras syndrome 0.21 0 Biomarker CTD_human 83737 ITCH itchy E3 ubiquitin protein ligase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 81533 ITFG1 integrin alpha FG-GAP repeat containing 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3672 ITGA1 integrin, alpha 1 umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 3673 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3673 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 3673 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 3673 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) umls:C0035328 Retinal Vein Occlusion 0.21 1 Biomarker CTD_human 3674 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) umls:C0007274 Carotid Artery Thrombosis 0.21 1 Biomarker CTD_human 3674 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 3676 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 3676 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3678 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 3678 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 3678 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 3678 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3679 ITGA7 integrin, alpha 7 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 8516 ITGA8 integrin, alpha 8 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 8516 ITGA8 integrin, alpha 8 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3683 ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) umls:C0004943 Behcet Syndrome 0.21 1 Biomarker CTD_human 3684 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 3684 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) umls:C0020877 Ileitis 0.21 1 Biomarker CTD_human 3685 ITGAV integrin, alpha V umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 3685 ITGAV integrin, alpha V umls:C0038454 Stroke 0.21 1 Biomarker CTD_human 3687 ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0007193 Cardiomyopathy, Dilated 0.21 1 Biomarker CTD_human 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 3688 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 9270 ITGB1BP1 integrin beta 1 binding protein 1 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 9270 ITGB1BP1 integrin beta 1 binding protein 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0004943 Behcet Syndrome 0.21 1 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0242597 Leukocyte-Adhesion Deficiency Syndrome 0.21 1 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0023510 Leukocyte Disorders 0.21 2 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0027720 Nephrosis 0.21 1 Biomarker CTD_human 3689 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) umls:C0037299 Skin Ulcer 0.21 1 Biomarker CTD_human 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0007274 Carotid Artery Thrombosis 0.21 1 Biomarker CTD_human 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0019557 Hip Fractures 0.21 1 Biomarker CTD_human 23421 ITGB3BP integrin beta 3 binding protein (beta3-endonexin) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3691 ITGB4 integrin, beta 4 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3691 ITGB4 integrin, beta 4 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 3691 ITGB4 integrin, beta 4 umls:C0013575 Ectodermal Dysplasia 0.21 1 Biomarker CTD_human 3691 ITGB4 integrin, beta 4 umls:C0079298 Epidermolysis Bullosa Simplex 0.21 0 Biomarker CTD_human 3691 ITGB4 integrin, beta 4 umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 3691 ITGB4 integrin, beta 4 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 3693 ITGB5 integrin, beta 5 umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 3694 ITGB6 integrin, beta 6 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3694 ITGB6 integrin, beta 6 umls:C0524910 Hepatitis C, Chronic 0.21 1 Biomarker CTD_human 3694 ITGB6 integrin, beta 6 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 3696 ITGB8 integrin, beta 8 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 9358 ITGBL1 integrin, beta-like 1 (with EGF-like repeat domains) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3697 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 3699 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 3700 ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4 umls:C0745103 HYPERCHOLESTEROLEMIA, FAMILIAL 0.21 0 Biomarker CTD_human 3702 ITK IL2-inducible T-cell kinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55600 ITLN1 intelectin 1 (galactofuranose binding) umls:C0242698 Ventricular Dysfunction, Left 0.21 1 Therapeutic CTD_human 9452 ITM2A integral membrane protein 2A umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 9445 ITM2B integral membrane protein 2B umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 3704 ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) umls:C0025521 Metabolism, Inborn Errors 0.21 2 Biomarker CTD_human 3704 ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) umls:C0040034 Thrombocytopenia 0.21 1 Biomarker CTD_human 80271 ITPKC inositol-trisphosphate 3-kinase C umls:C2936917 Infantile polyarteritis 0.21 0 Biomarker CTD_human 3708 ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 umls:C1527348 Hypoxia, Brain 0.21 1 Biomarker CTD_human 3709 ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 3709 ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 umls:C1527348 Hypoxia, Brain 0.21 1 Biomarker CTD_human 282551 ITS Insulinoma tumor suppressor gene locus umls:C0021670 Insulinoma 0.21 0 Biomarker CTD_human 50618 ITSN2 intersectin 2 umls:C1527336 Sjogren's Syndrome 0.21 1 Biomarker CTD_human 8114 IV inversus situs, viscerum umls:C3495537 HETEROTAXY, VISCERAL, 5, AUTOSOMAL 0.21 0 Biomarker CTD_human 3713 IVL involucrin umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 10625 IVNS1ABP influenza virus NS1A binding protein umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 182 JAG1 jagged 1 umls:C0005940 Bone Diseases 0.21 1 Biomarker CTD_human 182 JAG1 jagged 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 182 JAG1 jagged 1 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 182 JAG1 jagged 1 umls:C0010038 Corneal Opacity 0.21 1 Biomarker CTD_human 182 JAG1 jagged 1 umls:C0015393 Eye Abnormalities 0.21 3 Biomarker CTD_human 182 JAG1 jagged 1 umls:C0282631 Facies 0.21 2 Biomarker CTD_human 182 JAG1 jagged 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 182 JAG1 jagged 1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 3714 JAG2 jagged 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3714 JAG2 jagged 2 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 3714 JAG2 jagged 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 3714 JAG2 jagged 2 umls:C0751674 Lymphangioleiomyomatosis 0.21 1 Biomarker CTD_human 3714 JAG2 jagged 2 umls:C0039075 Syndactyly 0.21 1 Biomarker CTD_human 84522 JAGN1 jagunal homolog 1 (Drosophila) umls:C0027947 Neutropenia 0.21 2 Biomarker CTD_human 3717 JAK2 Janus kinase 2 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3717 JAK2 Janus kinase 2 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 3717 JAK2 Janus kinase 2 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 3717 JAK2 Janus kinase 2 umls:C0025472 Mesenteric Vascular Occlusion 0.21 1 Biomarker CTD_human 3717 JAK2 Janus kinase 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3718 JAK3 Janus kinase 3 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 152789 JAKMIP1 janus kinase and microtubule interacting protein 1 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 9832 JAKMIP2 janus kinase and microtubule interacting protein 2 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 3720 JARID2 jumonji, AT rich interactive domain 2 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 100192306 JAWAD Microcephaly with digital anomalies umls:C0796063 Microcephaly with Mental Retardation and Digital Anomalies 0.21 0 Biomarker CTD_human 221895 JAZF1 JAZF zinc finger 1 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 122953 JDP2 Jun dimerization protein 2 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 221037 JMJD1C jumonji domain containing 1C umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 57338 JPH3 junctophilin 3 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 8629 JRK Jrk homolog (mouse) umls:C0014548 Epilepsy, Generalized 0.21 1 Biomarker CTD_human 8629 JRK Jrk homolog (mouse) umls:C0270853 Myoclonic Epilepsy, Juvenile 0.21 1 Biomarker CTD_human 126306 JSRP1 junctional sarcoplasmic reticulum protein 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0018923 Hemangiosarcoma 0.21 1 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0021846 Intestinal Polyps 0.21 1 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0546127 Mercury Poisoning, Nervous System 0.21 1 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0031117 Peripheral Nervous System Diseases 0.21 2 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 3725 JUN jun proto-oncogene umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 3726 JUNB jun B proto-oncogene umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 3726 JUNB jun B proto-oncogene umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 3726 JUNB jun B proto-oncogene umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3726 JUNB jun B proto-oncogene umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 3727 JUND jun D proto-oncogene umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 3727 JUND jun D proto-oncogene umls:C0236736 Cocaine-Related Disorders 0.21 1 Therapeutic CTD_human 3727 JUND jun D proto-oncogene umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 3727 JUND jun D proto-oncogene umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 3728 JUP junction plakoglobin umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 3728 JUP junction plakoglobin umls:C0232347 No-Reflow Phenomenon 0.21 1 Therapeutic CTD_human 284058 KANSL1 KAT8 regulatory NSL complex subunit 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 284058 KANSL1 KAT8 regulatory NSL complex subunit 1 umls:C2931713 Chromosome 17 deletion 0.21 2 Biomarker CTD_human 284058 KANSL1 KAT8 regulatory NSL complex subunit 1 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 284058 KANSL1 KAT8 regulatory NSL complex subunit 1 umls:C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 0.21 1 Biomarker CTD_human 284058 KANSL1 KAT8 regulatory NSL complex subunit 1 umls:C0026827 Muscle Hypotonia 0.21 2 Biomarker CTD_human 7994 KAT6A K(lysine) acetyltransferase 6A umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 7994 KAT6A K(lysine) acetyltransferase 6A umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 387582 KAZA1 Kala-azar (visceral leishmaniasis), susceptibility to umls:C0023290 Leishmaniasis, Visceral 0.21 0 Biomarker CTD_human 3737 KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 3745 KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 3746 KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1 umls:C0751778 Myoclonic Epilepsies, Progressive 0.21 1 Biomarker CTD_human 3749 KCNC4 potassium channel, voltage gated Shaw related subfamily C, member 4 umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 9992 KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 umls:C1837014 Atrial Fibrillation, Familial, 3 0.21 0 Biomarker CTD_human 3756 KCNH1 potassium channel, voltage gated eag related subfamily H, member 1 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 3756 KCNH1 potassium channel, voltage gated eag related subfamily H, member 1 umls:C2678486 Temple-Baraitser Syndrome 0.21 1 Biomarker CTD_human 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 3761 KCNJ4 potassium channel, inwardly rectifying subfamily J, member 4 umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 3761 KCNJ4 potassium channel, inwardly rectifying subfamily J, member 4 umls:C0030567 Parkinson Disease 0.21 1 Therapeutic CTD_human 3763 KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 3764 KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8 umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 3775 KCNK1 potassium channel, two pore domain subfamily K, member 1 umls:C0020507 Hyperplasia 0.21 1 Therapeutic CTD_human 3777 KCNK3 potassium channel, two pore domain subfamily K, member 3 umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 8645 KCNK5 potassium channel, two pore domain subfamily K, member 5 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 3778 KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3778 KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 3778 KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 3778 KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 3778 KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 umls:C0028756 Obesity, Morbid 0.21 1 Biomarker CTD_human 3778 KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 3779 KCNMB1 potassium channel subfamily M regulatory beta subunit 1 umls:C1837739 Hypertension, Diastolic, Resistance to 0.21 0 Biomarker CTD_human 3785 KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 3785 KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 56479 KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 umls:C0027092 Myopia 0.21 1 Biomarker CTD_human 57582 KCNT1 potassium channel, sodium activated subfamily T, member 1 umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 57582 KCNT1 potassium channel, sodium activated subfamily T, member 1 umls:C0014547 Epilepsies, Partial 0.21 1 Biomarker CTD_human 57582 KCNT1 potassium channel, sodium activated subfamily T, member 1 umls:C0085541 Epilepsy, Frontal Lobe 0.21 1 Biomarker CTD_human 51133 KCTD3 potassium channel tetramerization domain containing 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10945 KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 23028 KDM1A lysine (K)-specific demethylase 1A umls:C0010340 Critical Illness 0.21 1 Biomarker CTD_human 23028 KDM1A lysine (K)-specific demethylase 1A umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 23028 KDM1A lysine (K)-specific demethylase 1A umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 23028 KDM1A lysine (K)-specific demethylase 1A umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 84678 KDM2B lysine (K)-specific demethylase 2B umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 51780 KDM3B lysine (K)-specific demethylase 3B umls:C0274869 Heavy Metal Toxicity 0.21 1 Therapeutic CTD_human 23030 KDM4B lysine (K)-specific demethylase 4B umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 23081 KDM4C lysine (K)-specific demethylase 4C umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 5927 KDM5A lysine (K)-specific demethylase 5A umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 8242 KDM5C lysine (K)-specific demethylase 5C umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 7403 KDM6A lysine (K)-specific demethylase 6A umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 7403 KDM6A lysine (K)-specific demethylase 6A umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 7403 KDM6A lysine (K)-specific demethylase 6A umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 7403 KDM6A lysine (K)-specific demethylase 6A umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 7403 KDM6A lysine (K)-specific demethylase 6A umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 23135 KDM6B lysine (K)-specific demethylase 6B umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 23135 KDM6B lysine (K)-specific demethylase 6B umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 3791 KDR kinase insert domain receptor umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 3791 KDR kinase insert domain receptor umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 3791 KDR kinase insert domain receptor umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 3791 KDR kinase insert domain receptor umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3791 KDR kinase insert domain receptor umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 3791 KDR kinase insert domain receptor umls:C0029422 Osteochondrodysplasias 0.21 1 Biomarker CTD_human 3791 KDR kinase insert domain receptor umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 3791 KDR kinase insert domain receptor umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 9817 KEAP1 kelch-like ECH-associated protein 1 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 9817 KEAP1 kelch-like ECH-associated protein 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 9817 KEAP1 kelch-like ECH-associated protein 1 umls:C0017178 Gastrointestinal Diseases 0.21 1 Biomarker CTD_human 9817 KEAP1 kelch-like ECH-associated protein 1 umls:C0019158 Hepatitis 0.21 1 Biomarker CTD_human 9817 KEAP1 kelch-like ECH-associated protein 1 umls:C0022593 Keratosis 0.21 1 Biomarker CTD_human 202559 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8570 KHSRP KH-type splicing regulatory protein umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 9768 KIAA0101 KIAA0101 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 80183 KIAA0226L KIAA0226-like umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9786 KIAA0586 KIAA0586 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 9786 KIAA0586 KIAA0586 umls:C0152427 Polydactyly 0.21 1 Biomarker CTD_human 26128 KIAA1279 KIAA1279 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 26128 KIAA1279 KIAA1279 umls:C1955869 Malformations of Cortical Development 0.21 1 Biomarker CTD_human 26128 KIAA1279 KIAA1279 umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 57535 KIAA1324 KIAA1324 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3832 KIF11 kinesin family member 11 umls:C0002938 Aneuploidy 0.21 1 Biomarker CTD_human 3832 KIF11 kinesin family member 11 umls:C1257806 Chromosomal Instability 0.21 1 Biomarker CTD_human 3832 KIF11 kinesin family member 11 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3832 KIF11 kinesin family member 11 umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 9928 KIF14 kinesin family member 14 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 56992 KIF15 kinesin family member 15 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 81930 KIF18A kinesin family member 18A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 547 KIF1A kinesin family member 1A umls:C0011849 Diabetes Mellitus 0.21 1 Biomarker CTD_human 10112 KIF20A kinesin family member 20A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55605 KIF21A kinesin family member 21A umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 9493 KIF23 kinesin family member 23 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3796 KIF2A kinesin heavy chain member 2A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3796 KIF2A kinesin heavy chain member 2A umls:C1955869 Malformations of Cortical Development 0.21 1 Biomarker CTD_human 11127 KIF3A kinesin family member 3A umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 11127 KIF3A kinesin family member 3A umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 11127 KIF3A kinesin family member 3A umls:C0152427 Polydactyly 0.21 1 Biomarker CTD_human 3797 KIF3C kinesin family member 3C umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 24137 KIF4A kinesin family member 4A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3799 KIF5B kinesin family member 5B umls:C0011849 Diabetes Mellitus 0.21 1 Biomarker CTD_human 374654 KIF7 kinesin family member 7 umls:C2931104 Hydrolethalus syndrome 0.21 1 Biomarker CTD_human 374654 KIF7 kinesin family member 7 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 3814 KISS1 KiSS-1 metastasis-suppressor umls:C0024232 Lymphatic Metastasis 0.21 1 Therapeutic CTD_human 84634 KISS1R KISS1 receptor umls:C0342384 Idiopathic Hypogonadotropic Hypogonadism 0.21 0 Biomarker CTD_human 84634 KISS1R KISS1 receptor umls:C0034012 Puberty, Delayed 0.21 1 Biomarker CTD_human 84634 KISS1R KISS1 receptor umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4254 KITLG KIT ligand umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Therapeutic CTD_human 4254 KITLG KIT ligand umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 4254 KITLG KIT ligand umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4254 KITLG KIT ligand umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 9365 KL klotho umls:C0013990 Emphysema 0.21 1 Biomarker CTD_human 9365 KL klotho umls:C0021359 Infertility 0.21 1 Biomarker CTD_human 10661 KLF1 Kruppel-like factor 1 (erythroid) umls:C0018939 Hematologic Diseases 0.21 1 Biomarker CTD_human 11278 KLF12 Kruppel-like factor 12 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 11278 KLF12 Kruppel-like factor 12 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 51621 KLF13 Kruppel-like factor 13 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 28999 KLF15 Kruppel-like factor 15 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10365 KLF2 Kruppel-like factor 2 umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 9314 KLF4 Kruppel-like factor 4 (gut) umls:C0000768 Congenital Abnormalities 0.21 1 Biomarker CTD_human 9314 KLF4 Kruppel-like factor 4 (gut) umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 9314 KLF4 Kruppel-like factor 4 (gut) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 688 KLF5 Kruppel-like factor 5 (intestinal) umls:C2936380 Neointima 0.21 1 Biomarker CTD_human 687 KLF9 Kruppel-like factor 9 umls:C0005910 Body Weight 0.21 1 Biomarker CTD_human 687 KLF9 Kruppel-like factor 9 umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 55220 KLHDC8A kelch domain containing 8A umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 51088 KLHL5 kelch-like family member 5 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 3816 KLK1 kallikrein 1 umls:C2609414 Acute Kidney Injury 0.21 1 Therapeutic CTD_human 3816 KLK1 kallikrein 1 umls:C0016059 Fibrosis 0.21 1 Therapeutic CTD_human 5655 KLK10 kallikrein-related peptidase 10 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 354 KLK3 kallikrein-related peptidase 3 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 354 KLK3 kallikrein-related peptidase 3 umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 354 KLK3 kallikrein-related peptidase 3 umls:C1334615 Phyllodes Tumor of the Prostate 0.21 1 Biomarker CTD_human 3820 KLRB1 killer cell lectin-like receptor subfamily B, member 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 8302 KLRC4 killer cell lectin-like receptor subfamily C, member 4 umls:C0004943 Behcet Syndrome 0.21 1 Biomarker CTD_human 8564 KMO kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 9757 KMT2B lysine (K)-specific methyltransferase 2B umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 58508 KMT2C lysine (K)-specific methyltransferase 2C umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 58508 KMT2C lysine (K)-specific methyltransferase 2C umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 58508 KMT2C lysine (K)-specific methyltransferase 2C umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 58508 KMT2C lysine (K)-specific methyltransferase 2C umls:C0206698 Cholangiocarcinoma 0.21 1 Biomarker CTD_human 58508 KMT2C lysine (K)-specific methyltransferase 2C umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 58508 KMT2C lysine (K)-specific methyltransferase 2C umls:C0023897 Liver Diseases, Parasitic 0.21 1 Biomarker CTD_human 58508 KMT2C lysine (K)-specific methyltransferase 2C umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 58508 KMT2C lysine (K)-specific methyltransferase 2C umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 8085 KMT2D lysine (K)-specific methyltransferase 2D umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 8085 KMT2D lysine (K)-specific methyltransferase 2D umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 3827 KNG1 kininogen 1 umls:C2609414 Acute Kidney Injury 0.21 2 Therapeutic CTD_human 3827 KNG1 kininogen 1 umls:C0002792 Anaphylaxis 0.21 1 Biomarker CTD_human 3827 KNG1 kininogen 1 umls:C0003811 Arrhythmias, Cardiac 0.21 1 Therapeutic CTD_human 3827 KNG1 kininogen 1 umls:C0428977 Bradycardia 0.21 1 Biomarker CTD_human 3827 KNG1 kininogen 1 umls:C0011609 Drug Eruptions 0.21 2 Biomarker, Therapeutic CTD_human 3827 KNG1 kininogen 1 umls:C0013604 Edema 0.21 1 Biomarker CTD_human 3827 KNG1 kininogen 1 umls:C0015379 Extravasation of Diagnostic and Therapeutic Materials 0.21 1 Biomarker CTD_human 3827 KNG1 kininogen 1 umls:C0020452 Hyperemia 0.21 1 Biomarker CTD_human 3827 KNG1 kininogen 1 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 3827 KNG1 kininogen 1 umls:C0020649 Hypotension 0.21 8 Biomarker CTD_human 3827 KNG1 kininogen 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 3827 KNG1 kininogen 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3827 KNG1 kininogen 1 umls:C0027055 Myocardial Reperfusion Injury 0.21 2 Therapeutic CTD_human 3836 KPNA1 karyopherin alpha 1 (importin alpha 5) umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 3838 KPNA2 karyopherin alpha 2 (RAG cohort 1, importin alpha 1) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3837 KPNB1 karyopherin (importin) beta 1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0007528 Cecal Neoplasms 0.21 1 Biomarker CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0016978 Gallbladder Neoplasms 0.21 1 Biomarker CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0023897 Liver Diseases, Parasitic 0.21 1 Biomarker CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0027659 Neoplasms, Experimental 0.21 3 Biomarker CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0030849 Penile Neoplasms 0.21 1 Biomarker CTD_human 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0042138 Uterine Neoplasms 0.21 1 Biomarker CTD_human 889 KRIT1 KRIT1, ankyrin repeat containing umls:C0752160 Hemangioma, Cavernous, Central Nervous System 0.21 0 Biomarker CTD_human 3848 KRT1 keratin 1, type II umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 3848 KRT1 keratin 1, type II umls:C2931122 Keratosis palmoplantaris striata 1 0.21 0 Biomarker CTD_human 3848 KRT1 keratin 1, type II umls:C2931123 Keratosis palmoplantaris striata 3 0.21 0 Biomarker CTD_human 3858 KRT10 keratin 10, type I umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 3858 KRT10 keratin 10, type I umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 3860 KRT13 keratin 13, type I umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 3861 KRT14 keratin 14, type I umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3861 KRT14 keratin 14, type I umls:C0549567 Pigmentation Disorders 0.21 1 Biomarker CTD_human 3861 KRT14 keratin 14, type I umls:C0040411 Tongue Neoplasms 0.21 1 Biomarker CTD_human 3866 KRT15 keratin 15, type I umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 3866 KRT15 keratin 15, type I umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3866 KRT15 keratin 15, type I umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 3868 KRT16 keratin 16, type I umls:C1721006 Keratoderma, Palmoplantar, Epidermolytic 0.21 0 Biomarker CTD_human 3868 KRT16 keratin 16, type I umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 3872 KRT17 keratin 17, type I umls:C0007117 Carcinoma, Basal Cell 0.21 1 Biomarker CTD_human 3872 KRT17 keratin 17, type I umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 3872 KRT17 keratin 17, type I umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 3875 KRT18 keratin 18, type I umls:C0023893 Liver Cirrhosis, Experimental 0.21 3 Biomarker CTD_human 3875 KRT18 keratin 18, type I umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 3880 KRT19 keratin 19, type I umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3880 KRT19 keratin 19, type I umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 54474 KRT20 keratin 20, type I umls:C0007528 Cecal Neoplasms 0.21 1 Biomarker CTD_human 3850 KRT3 keratin 3, type II umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 3882 KRT32 keratin 32, type I umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 3852 KRT5 keratin 5, type II umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 3852 KRT5 keratin 5, type II umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3852 KRT5 keratin 5, type II umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3852 KRT5 keratin 5, type II umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3852 KRT5 keratin 5, type II umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 3854 KRT6B keratin 6B, type II umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 3854 KRT6B keratin 6B, type II umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 3855 KRT7 keratin 7, type II umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 3855 KRT7 keratin 7, type II umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 112802 KRT71 keratin 71, type II umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 112802 KRT71 keratin 71, type II umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 112802 KRT71 keratin 71, type II umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3856 KRT8 keratin 8, type II umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 3856 KRT8 keratin 8, type II umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 3856 KRT8 keratin 8, type II umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 3856 KRT8 keratin 8, type II umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 450092 KTCN2 Keratoconus 2 umls:C1837090 Keratoconus 2 0.21 0 Biomarker CTD_human 406215 KTCN3 Keratoconus 3 umls:C1837809 Keratoconus 3 0.21 0 Biomarker CTD_human 550624 KTCN4 Keratoconus 4 umls:C1836473 Keratoconus 4 0.21 0 Biomarker CTD_human 791122 KTWS Klippel-Trenaunay-Weber syndrome umls:C0022739 Klippel-Trenaunay-Weber Syndrome 0.21 0 Biomarker CTD_human 3896 KWE keratolytic winter erythema (Oudtshoorn skin disease) umls:C0406756 Keratolytic winter erythema 0.21 0 Biomarker CTD_human 8942 KYNU kynureninase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8942 KYNU kynureninase umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 8942 KYNU kynureninase umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 780921 KYPSC1 Kyphoscoliosis 1 umls:C1857795 Kyphoscoliosis 1 0.21 0 Biomarker CTD_human 3897 L1CAM L1 cell adhesion molecule umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 3897 L1CAM L1 cell adhesion molecule umls:C0751830 Gait Disorders, Neurologic 0.21 1 Biomarker CTD_human 3897 L1CAM L1 cell adhesion molecule umls:C0018566 Hand Deformities, Congenital 0.21 1 Biomarker CTD_human 79944 L2HGDH L-2-hydroxyglutarate dehydrogenase umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 79944 L2HGDH L-2-hydroxyglutarate dehydrogenase umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 79944 L2HGDH L-2-hydroxyglutarate dehydrogenase umls:C0497552 Nervous System Malformations 0.21 1 Biomarker CTD_human 83746 L3MBTL2 l(3)mbt-like 2 (Drosophila) umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 84456 L3MBTL3 l(3)mbt-like 3 (Drosophila) umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 114294 LACTB lactamase, beta umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 3903 LAIR1 leukocyte-associated immunoglobulin-like receptor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3904 LAIR2 leukocyte-associated immunoglobulin-like receptor 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8009 LALL Lymphomatous acute lymphoblastic leukemia umls:C1855472 Lymphoblastic Leukemia, Acute, with Lymphomatous Features 0.21 0 Biomarker CTD_human 284217 LAMA1 laminin, alpha 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 284217 LAMA1 laminin, alpha 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 284217 LAMA1 laminin, alpha 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 284217 LAMA1 laminin, alpha 1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 3908 LAMA2 laminin, alpha 2 umls:C0027092 Myopia 0.21 1 Biomarker CTD_human 3908 LAMA2 laminin, alpha 2 umls:C0036341 Schizophrenia 0.21 2 Biomarker CTD_human 3909 LAMA3 laminin, alpha 3 umls:C0027339 Nail Diseases 0.21 1 Biomarker CTD_human 3909 LAMA3 laminin, alpha 3 umls:C0037299 Skin Ulcer 0.21 1 Biomarker CTD_human 3909 LAMA3 laminin, alpha 3 umls:C0043251 Wounds and Injuries 0.21 1 Therapeutic CTD_human 3910 LAMA4 laminin, alpha 4 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3912 LAMB1 laminin, beta 1 umls:C0009363 Coloboma 0.21 1 Biomarker CTD_human 3912 LAMB1 laminin, beta 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3913 LAMB2 laminin, beta 2 (laminin S) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3914 LAMB3 laminin, beta 3 umls:C0043251 Wounds and Injuries 0.21 1 Therapeutic CTD_human 3918 LAMC2 laminin, gamma 2 umls:C0043251 Wounds and Injuries 0.21 1 Therapeutic CTD_human 10319 LAMC3 laminin, gamma 3 umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 10319 LAMC3 laminin, gamma 3 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 3920 LAMP2 lysosomal-associated membrane protein 2 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 7939 LAP Laryngeal adductor paralysis umls:C0396060 Laryngeal Adductor Paralysis 0.21 0 Biomarker CTD_human 7805 LAPTM5 lysosomal protein transmembrane 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9215 LARGE like-glycosyltransferase umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 9215 LARGE like-glycosyltransferase umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 9215 LARGE like-glycosyltransferase umls:C0265221 Walker-Warburg Syndrome 0.21 0 Biomarker CTD_human 9215 LARGE like-glycosyltransferase umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 113251 LARP4 La ribonucleoprotein domain family, member 4 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 51574 LARP7 La ribonucleoprotein domain family, member 7 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 27040 LAT linker for activation of T cells umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 27040 LAT linker for activation of T cells umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 27040 LAT linker for activation of T cells umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 7462 LAT2 linker for activation of T cells family, member 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 207115 LATD Laterality defects, autosomal dominant umls:C1832813 Laterality Defects, Autosomal Dominant 0.21 0 Biomarker CTD_human 9113 LATS1 large tumor suppressor kinase 1 umls:C0027660 Neoplasms, Glandular and Epithelial 0.21 1 Biomarker CTD_human 3929 LBP lipopolysaccharide binding protein umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 3929 LBP lipopolysaccharide binding protein umls:C0026766 Multiple Organ Failure 0.21 1 Biomarker CTD_human 3929 LBP lipopolysaccharide binding protein umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 51451 LCMT1 leucine carboxyl methyltransferase 1 umls:C0752351 Embryo Loss 0.21 1 Biomarker CTD_human 3934 LCN2 lipocalin 2 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 3934 LCN2 lipocalin 2 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 3934 LCN2 lipocalin 2 umls:C0860207 Drug-Induced Liver Injury 0.21 2 Biomarker CTD_human 3934 LCN2 lipocalin 2 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 3934 LCN2 lipocalin 2 umls:C0019188 Hepatitis, Animal 0.21 1 Biomarker CTD_human 3934 LCN2 lipocalin 2 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 254251 LCORL ligand dependent nuclear receptor corepressor-like umls:C0005612 Birth Weight 0.21 1 Biomarker CTD_human 3936 LCP1 lymphocyte cytosolic protein 1 (L-plastin) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3936 LCP1 lymphocyte cytosolic protein 1 (L-plastin) umls:C0040336 Tobacco Use Disorder 0.21 1 Biomarker CTD_human 387281 LCRB locus control region, beta umls:C0002312 alpha-Thalassemia 0.21 0 Biomarker CTD_human 100534624 LCR-OPSIN opsin locus control region umls:C0339537 Blue cone monochromatism 0.21 0 Biomarker CTD_human 3939 LDHA lactate dehydrogenase A umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 3939 LDHA lactate dehydrogenase A umls:C2931743 Lactate dehydrogenase deficiency type A 0.21 0 Biomarker CTD_human 3939 LDHA lactate dehydrogenase A umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 3939 LDHA lactate dehydrogenase A umls:C0027080 Myoglobinuria 0.21 1 Biomarker CTD_human 92483 LDHAL6B lactate dehydrogenase A-like 6B umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3945 LDHB lactate dehydrogenase B umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 3945 LDHB lactate dehydrogenase B umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 3945 LDHB lactate dehydrogenase B umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 3945 LDHB lactate dehydrogenase B umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 3945 LDHB lactate dehydrogenase B umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 3945 LDHB lactate dehydrogenase B umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 3948 LDHC lactate dehydrogenase C umls:C0021364 Infertility, Male 0.21 2 Biomarker CTD_human 3948 LDHC lactate dehydrogenase C umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 3949 LDLR low density lipoprotein receptor umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 3949 LDLR low density lipoprotein receptor umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 143458 LDLRAD3 low density lipoprotein receptor class A domain containing 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 84247 LDOC1L leucine zipper, down-regulated in cancer 1-like umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 100302509 LECD Corneal dystrophy, Lisch epithelial umls:C2749050 Corneal Dystrophy, Lisch Epithelial 0.21 0 Biomarker CTD_human 7044 LEFTY2 left-right determination factor 2 umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 7044 LEFTY2 left-right determination factor 2 umls:C3178805 Heterotaxy Syndrome 0.21 1 Biomarker CTD_human 3952 LEP leptin umls:C0002395 Alzheimer Disease 0.21 1 Therapeutic CTD_human 3952 LEP leptin umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 3952 LEP leptin umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 3952 LEP leptin umls:C0241910 Hepatitis, Autoimmune 0.21 1 Biomarker CTD_human 3952 LEP leptin umls:C0019337 Heroin Dependence 0.21 1 Biomarker CTD_human 3952 LEP leptin umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 3952 LEP leptin umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 3952 LEP leptin umls:C0149745 Oral Ulcer 0.21 1 Therapeutic CTD_human 3952 LEP leptin umls:C0085602 Polydipsia 0.21 1 Biomarker CTD_human 3952 LEP leptin umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 3952 LEP leptin umls:C0038358 Stomach Ulcer 0.21 6 Therapeutic CTD_human 3952 LEP leptin umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0011853 Diabetes Mellitus, Experimental 0.21 3 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0019209 Hepatomegaly 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0020456 Hyperglycemia 0.21 4 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0020505 Hyperphagia 0.21 3 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0020619 Hypogonadism 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0021359 Infertility 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0030286 Pancreatic Diseases 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3953 LEPR leptin receptor umls:C0035243 Respiratory Tract Infections 0.21 1 Biomarker CTD_human 10536 P3H3 prolyl 3-hydroxylase 3 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 23484 LEPROTL1 leptin receptor overlapping transcript-like 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3954 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Therapeutic CTD_human 3954 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 3954 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 3954 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 umls:C0026827 Muscle Hypotonia 0.21 1 Biomarker CTD_human 553989 LFS3 Li-Fraumeni syndrome 3 umls:C1836481 Li-Fraumeni Syndrome 3 0.21 0 Biomarker CTD_human 3956 LGALS1 lectin, galactoside-binding, soluble, 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 3956 LGALS1 lectin, galactoside-binding, soluble, 1 umls:C0027697 Nephritis 0.21 1 Therapeutic CTD_human 56891 LGALS14 lectin, galactoside-binding, soluble, 14 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3957 LGALS2 lectin, galactoside-binding, soluble, 2 umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 3958 LGALS3 lectin, galactoside-binding, soluble, 3 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 3958 LGALS3 lectin, galactoside-binding, soluble, 3 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3958 LGALS3 lectin, galactoside-binding, soluble, 3 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 3958 LGALS3 lectin, galactoside-binding, soluble, 3 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 3963 LGALS7 lectin, galactoside-binding, soluble, 7 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3963 LGALS7 lectin, galactoside-binding, soluble, 7 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 3963 LGALS7 lectin, galactoside-binding, soluble, 7 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 3965 LGALS9 lectin, galactoside-binding, soluble, 9 umls:C0027697 Nephritis 0.21 1 Therapeutic CTD_human 553991 LGMD1G limb girdle muscular dystrophy 1G (autosomal dominant) umls:C1836765 Limb-Girdle Muscular Dystrophy, Type 1G 0.21 0 Biomarker CTD_human 100529230 LGMD1H limb girdle muscular dystrophy 1H (autosomal dominant) umls:C3150786 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H 0.21 0 Biomarker CTD_human 55366 LGR4 leucine-rich repeat containing G protein-coupled receptor 4 umls:C0036341 Schizophrenia 0.21 0 Biomarker CTD_human 59352 LGR6 leucine-rich repeat containing G protein-coupled receptor 6 umls:C1458155 Breast Neoplasms 0.21 2 Biomarker CTD_human 59352 LGR6 leucine-rich repeat containing G protein-coupled receptor 6 umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 3972 LHB luteinizing hormone beta polypeptide umls:C0001973 Alcoholism 0.21 1 Biomarker CTD_human 3972 LHB luteinizing hormone beta polypeptide umls:C0428977 Bradycardia 0.21 1 Therapeutic CTD_human 3972 LHB luteinizing hormone beta polypeptide umls:C0020514 Hyperprolactinemia 0.21 1 Biomarker CTD_human 3972 LHB luteinizing hormone beta polypeptide umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 3972 LHB luteinizing hormone beta polypeptide umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 3972 LHB luteinizing hormone beta polypeptide umls:C0021364 Infertility, Male 0.21 3 Biomarker CTD_human 3972 LHB luteinizing hormone beta polypeptide umls:C0034012 Puberty, Delayed 0.21 1 Biomarker CTD_human 3972 LHB luteinizing hormone beta polypeptide umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 10184 LHFPL2 lipoma HMGIC fusion partner-like 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3975 LHX1 LIM homeobox 1 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 9355 LHX2 LIM homeobox 2 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 8022 LHX3 LIM homeobox 3 umls:C0878683 Pituitary Hormone Deficiency, Combined, 2 0.21 0 Biomarker CTD_human 140560 LI5 Lamellar ichthyosis 5 umls:C1847849 Ichthyosis, Lamellar, 5 0.21 0 Biomarker CTD_human 3976 LIF leukemia inhibitory factor umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 3976 LIF leukemia inhibitory factor umls:C0752351 Embryo Loss 0.21 1 Biomarker CTD_human 3976 LIF leukemia inhibitory factor umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 3976 LIF leukemia inhibitory factor umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3976 LIF leukemia inhibitory factor umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 3976 LIF leukemia inhibitory factor umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 3976 LIF leukemia inhibitory factor umls:C0043096 Weight Loss 0.21 1 Biomarker CTD_human 3977 LIFR leukemia inhibitory factor receptor alpha umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 3978 LIG1 ligase I, DNA, ATP-dependent umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 10859 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10288 LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 11006 LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10990 LILRB5 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 22998 LIMCH1 LIM and calponin homology domains 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 79727 LIN28A lin-28 homolog A (C. elegans) umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 79727 LIN28A lin-28 homolog A (C. elegans) umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 389421 LIN28B lin-28 homolog B (C. elegans) umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 389421 LIN28B lin-28 homolog B (C. elegans) umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 8825 LIN7A lin-7 homolog A (C. elegans) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 8825 LIN7A lin-7 homolog A (C. elegans) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 8825 LIN7A lin-7 homolog A (C. elegans) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 727699 LINC00163 long intergenic non-protein coding RNA 163 umls:C1834372 Narcolepsy 1 0.21 0 Biomarker CTD_human 158314 LINC00475 long intergenic non-protein coding RNA 475 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 100270679 LINC01432 long intergenic non-protein coding RNA 1432 umls:C2676272 Alopecia, Androgenetic, 3 0.21 0 Biomarker CTD_human 158038 LINGO2 leucine rich repeat and Ig domain containing 2 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 158038 LINGO2 leucine rich repeat and Ig domain containing 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 3988 LIPA lipase A, lysosomal acid, cholesterol esterase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3988 LIPA lipase A, lysosomal acid, cholesterol esterase umls:C0220756 Niemann-Pick Disease, Type C 0.21 1 Therapeutic CTD_human 3990 LIPC lipase, hepatic umls:C2675071 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12 0.21 0 Biomarker CTD_human 3990 LIPC lipase, hepatic umls:C0023772 Lipid Metabolism, Inborn Errors 0.21 3 Biomarker CTD_human 149998 LIPI lipase, member I umls:C0020480 Hyperlipoproteinemia Type IV 0.21 0 Biomarker CTD_human 9516 LITAF lipopolysaccharide-induced TNF factor umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 100302058 LKMCD Leukoencephalopathy with metaphyseal chondrodysplasia umls:C1970840 Leukoencephalopathy With Metaphyseal Chondrodysplasia 0.21 0 Biomarker CTD_human 3996 LLGL1 lethal giant larvae homolog 1 (Drosophila) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 81562 LMAN2L lectin, mannose-binding 2-like umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 64788 LMF1 lipase maturation factor 1 umls:C0020557 Hypertriglyceridemia 0.21 1 Biomarker CTD_human 64788 LMF1 lipase maturation factor 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4000 LMNA lamin A/C umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 4000 LMNA lamin A/C umls:C0085298 Death, Sudden, Cardiac 0.21 1 Biomarker CTD_human 4000 LMNA lamin A/C umls:C0016508 Foot Deformities, Congenital 0.21 1 Biomarker CTD_human 4000 LMNA lamin A/C umls:C0018566 Hand Deformities, Congenital 0.21 1 Biomarker CTD_human 4000 LMNA lamin A/C umls:C0036420 Scleroderma, Localized 0.21 1 Biomarker CTD_human 4000 LMNA lamin A/C umls:C0037188 Sinoatrial Block 0.21 1 Biomarker CTD_human 4000 LMNA lamin A/C umls:C0042514 Tachycardia, Ventricular 0.21 1 Biomarker CTD_human 4000 LMNA lamin A/C umls:C0406585 Tight skin contracture syndrome, lethal 0.21 0 Biomarker CTD_human 4001 LMNB1 lamin B1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4004 LMO1 LIM domain only 1 (rhombotin 1) umls:C0023492 Leukemia, T-Cell 0.21 2 Biomarker CTD_human 25802 LMOD1 leiomodin 1 (smooth muscle) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 100188865 LMPH1B Lymphedema, hereditary, IB umls:C2677787 Lymphedema, Hereditary, IB 0.21 0 Biomarker CTD_human 4010 LMX1B LIM homeobox transcription factor 1, beta umls:C0009081 Clubfoot 0.21 1 Biomarker CTD_human 4010 LMX1B LIM homeobox transcription factor 1, beta umls:C1842028 Glaucoma 1, Open Angle, A 0.21 0 Biomarker CTD_human 4010 LMX1B LIM homeobox transcription factor 1, beta umls:C0018965 Hematuria 0.21 1 Biomarker CTD_human 4010 LMX1B LIM homeobox transcription factor 1, beta umls:C0020473 Hyperlipidemias 0.21 1 Biomarker CTD_human 4010 LMX1B LIM homeobox transcription factor 1, beta umls:C0004936 Mental Disorders 0.21 1 Biomarker CTD_human 4010 LMX1B LIM homeobox transcription factor 1, beta umls:C0525040 Mental Disorders Diagnosed in Childhood 0.21 1 Biomarker CTD_human 4010 LMX1B LIM homeobox transcription factor 1, beta umls:C0033687 Proteinuria 0.21 2 Biomarker CTD_human 4010 LMX1B LIM homeobox transcription factor 1, beta umls:C0021603 Sleep Initiation and Maintenance Disorders 0.21 1 Biomarker CTD_human 450093 LNCR1 Lung cancer 1 umls:C0024121 Lung Neoplasms 0.21 0 Biomarker CTD_human 100271687 LNCR3 Lung cancer susceptibility 3 umls:C0024121 Lung Neoplasms 0.21 0 Biomarker CTD_human 100271693 LNCR4 Lung cancer susceptibility 4 umls:C0024121 Lung Neoplasms 0.21 0 Biomarker CTD_human 4012 LNPEP leucyl/cystinyl aminopeptidase umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 100188775 LOAS Leber optic atrophy, susceptibility to umls:C0917796 Optic Atrophy, Hereditary, Leber 0.21 0 Biomarker CTD_human 4014 LOR loricrin umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 4015 LOX lysyl oxidase umls:C0003504 Aortic Valve Insufficiency 0.21 1 Biomarker CTD_human 4015 LOX lysyl oxidase umls:C0019163 Hepatitis B 0.21 1 Biomarker CTD_human 4015 LOX lysyl oxidase umls:C0019196 Hepatitis C 0.21 1 Biomarker CTD_human 4015 LOX lysyl oxidase umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 4015 LOX lysyl oxidase umls:C0086468 Prenatal Injuries 0.21 1 Biomarker CTD_human 4016 LOXL1 lysyl oxidase-like 1 umls:C0086468 Prenatal Injuries 0.21 1 Biomarker CTD_human 4017 LOXL2 lysyl oxidase-like 2 umls:C0019163 Hepatitis B 0.21 1 Biomarker CTD_human 4017 LOXL2 lysyl oxidase-like 2 umls:C0019196 Hepatitis C 0.21 1 Biomarker CTD_human 4017 LOXL2 lysyl oxidase-like 2 umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 4018 LPA lipoprotein, Lp(a) umls:C0020623 Hypolipoproteinemias 0.21 1 Biomarker CTD_human 4018 LPA lipoprotein, Lp(a) umls:C0042487 Venous Thrombosis 0.21 1 Biomarker CTD_human 1902 LPAR1 lysophosphatidic acid receptor 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1902 LPAR1 lysophosphatidic acid receptor 1 umls:C0015927 Fetal Death 0.21 1 Biomarker CTD_human 1902 LPAR1 lysophosphatidic acid receptor 1 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 1902 LPAR1 lysophosphatidic acid receptor 1 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 1902 LPAR1 lysophosphatidic acid receptor 1 umls:C0553757 Olfaction Disorders 0.21 1 Biomarker CTD_human 54947 LPCAT2 lysophosphatidylcholine acyltransferase 2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 9926 LPGAT1 lysophosphatidylglycerol acyltransferase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9926 LPGAT1 lysophosphatidylglycerol acyltransferase 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 23175 LPIN1 lipin 1 umls:C1849386 Myoglobinuria, Acute Recurrent, Autosomal Recessive 0.21 0 Biomarker CTD_human 4023 LPL lipoprotein lipase umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 4023 LPL lipoprotein lipase umls:C0019196 Hepatitis C 0.21 1 Therapeutic CTD_human 4023 LPL lipoprotein lipase umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 4023 LPL lipoprotein lipase umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4023 LPL lipoprotein lipase umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 54886 LPPR1 lipid phosphate phosphatase-related protein type 1 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 81861 LPRS Leprosy, susceptibility to 1 umls:C0023343 Leprosy 0.21 0 Biomarker CTD_human 100499166 LPRS6 Leprosy, susceptiblity to, 6 umls:C0023343 Leprosy 0.21 0 Biomarker CTD_human 9227 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) umls:C0015398 Eye Diseases, Hereditary 0.21 1 Biomarker CTD_human 9227 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) umls:C0917796 Optic Atrophy, Hereditary, Leber 0.21 2 Biomarker CTD_human 9227 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) umls:C0042842 Vitamin A Deficiency 0.21 1 Biomarker CTD_human 4035 LRP1 low density lipoprotein receptor-related protein 1 umls:C0338480 Migraine without Aura 0.21 1 Biomarker CTD_human 4035 LRP1 low density lipoprotein receptor-related protein 1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 53353 LRP1B low density lipoprotein receptor-related protein 1B umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 53353 LRP1B low density lipoprotein receptor-related protein 1B umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C0015398 Eye Diseases, Hereditary 0.21 1 Biomarker CTD_human 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C0018784 Hearing Loss, Sensorineural 0.21 1 Biomarker CTD_human 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 4036 LRP2 low density lipoprotein receptor-related protein 2 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 4038 LRP4 low density lipoprotein receptor-related protein 4 umls:C0040427 Tooth Abnormalities 0.21 1 Biomarker CTD_human 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C0242852 Vitreoretinopathy, Proliferative 0.21 1 Biomarker CTD_human 7804 LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 90668 LRRC16B leucine rich repeat containing 16B umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 116135 LRRC3B leucine rich repeat containing 3B umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 55379 LRRC59 leucine rich repeat containing 59 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 57554 LRRC7 leucine rich repeat containing 7 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 120892 LRRK2 leucine-rich repeat kinase 2 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 120892 LRRK2 leucine-rich repeat kinase 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 120892 LRRK2 leucine-rich repeat kinase 2 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 54674 LRRN3 leucine rich repeat neuronal 3 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 347731 LRRTM3 leucine rich repeat transmembrane neuronal 3 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 406214 LRSL Larsen-like syndrome umls:C1837884 Larsen-Like Syndrome 0.21 0 Biomarker CTD_human 55341 LSG1 large 60S subunit nuclear export GTPase 1 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 27257 LSM1 LSM1, U6 small nuclear RNA associated umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 23658 LSM5 LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 4046 LSP1 lymphocyte-specific protein 1 umls:C1458155 Breast Neoplasms 0.21 2 Biomarker CTD_human 4046 LSP1 lymphocyte-specific protein 1 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 4046 LSP1 lymphocyte-specific protein 1 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 51599 LSR lipolysis stimulated lipoprotein receptor umls:C0007097 Carcinoma 0.21 2 Biomarker CTD_human 51599 LSR lipolysis stimulated lipoprotein receptor umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 51599 LSR lipolysis stimulated lipoprotein receptor umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 4047 LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) umls:C0023794 Lipidoses 0.21 2 Biomarker CTD_human 4049 LTA lymphotoxin alpha umls:C0019151 Hepatic Encephalopathy 0.21 1 Biomarker CTD_human 4049 LTA lymphotoxin alpha umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1241 LTB4R leukotriene B4 receptor umls:C0002792 Anaphylaxis 0.21 1 Biomarker CTD_human 1241 LTB4R leukotriene B4 receptor umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 4054 LTBP3 latent transforming growth factor beta binding protein 3 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 4054 LTBP3 latent transforming growth factor beta binding protein 3 umls:C0022821 Kyphosis 0.21 1 Biomarker CTD_human 4054 LTBP3 latent transforming growth factor beta binding protein 3 umls:C0029408 Osteoarthritis 0.21 2 Biomarker CTD_human 4054 LTBP3 latent transforming growth factor beta binding protein 3 umls:C0029464 Osteosclerosis 0.21 2 Biomarker CTD_human 4055 LTBR lymphotoxin beta receptor (TNFR superfamily, member 3) umls:C0024530 Malaria 0.21 1 Biomarker CTD_human 4057 LTF lactotransferrin umls:C0006849 Candidiasis, Oral 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0700345 Candidiasis, Vulvovaginal 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0392622 Carbon Tetrachloride Poisoning 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0009324 Colitis, Ulcerative 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0009375 Colonic Neoplasms 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0017181 Gastrointestinal Hemorrhage 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 4057 LTF lactotransferrin umls:C0022408 Joint Diseases 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0023903 Liver Neoplasms 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0027651 Neoplasms 0.21 1 Therapeutic CTD_human 4057 LTF lactotransferrin umls:C0043251 Wounds and Injuries 0.21 1 Therapeutic CTD_human 4058 LTK leukocyte receptor tyrosine kinase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4058 LTK leukocyte receptor tyrosine kinase umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 4060 LUM lumican umls:C0238288 Muscular Dystrophy, Facioscapulohumeral 0.21 1 Biomarker CTD_human 4060 LUM lumican umls:C0043251 Wounds and Injuries 0.21 1 Therapeutic CTD_human 619411 LVNC2 noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2 umls:C1836118 LEFT VENTRICULAR NONCOMPACTION 2 0.21 0 Biomarker CTD_human 4061 LY6E lymphocyte antigen 6 complex, locus E umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 4061 LY6E lymphocyte antigen 6 complex, locus E umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 9450 LY86 lymphocyte antigen 86 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 9450 LY86 lymphocyte antigen 86 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 9450 LY86 lymphocyte antigen 86 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 23643 LY96 lymphocyte antigen 96 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 23643 LY96 lymphocyte antigen 96 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 23643 LY96 lymphocyte antigen 96 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 4066 LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1 umls:C0023448 Leukemia, Lymphoid 0.21 1 Biomarker CTD_human 10434 LYPLA1 lysophospholipase I umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 201229 LYRM9 LYR motif containing 9 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 116068 LYSMD3 LysM, putative peptidoglycan-binding, domain containing 3 umls:C0040336 Tobacco Use Disorder 0.21 1 Biomarker CTD_human 8216 LZTR1 leucine-zipper-like transcription regulator 1 umls:C0017636 Glioblastoma 0.21 1 Biomarker CTD_human 4074 M6PR mannose-6-phosphate receptor (cation dependent) umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 4074 M6PR mannose-6-phosphate receptor (cation dependent) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 4074 M6PR mannose-6-phosphate receptor (cation dependent) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4074 M6PR mannose-6-phosphate receptor (cation dependent) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4080 MAA microphthalmia or anophthalmia and associated anomalies umls:C0796016 Microphthalmia, syndromic 1 0.21 0 Biomarker CTD_human 10586 MAB21L2 mab-21-like 2 (C. elegans) umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 140733 MACROD2 MACRO domain containing 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 100529231 MACST Macrostomia umls:C0024433 Macrostomia 0.21 0 Biomarker CTD_human 8379 MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) umls:C0033578 Prostatic Neoplasms 0.21 0 Biomarker CTD_human 4085 MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 4085 MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4085 MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 8174 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 4094 MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog umls:C0008372 Cholestasis, Intrahepatic 0.21 1 Biomarker CTD_human 4095 MAFD1 major affective disorder 1 umls:C1852197 Major Affective Disorder 1 0.21 0 Biomarker CTD_human 4096 MAFD2 major affective disorder 2 umls:C1839839 Major Affective Disorder 2 0.21 0 Biomarker CTD_human 100188792 MAFD3 Major affective disorder 3, early onset umls:C1864994 Major Affective Disorder 3 0.21 0 Biomarker CTD_human 100126593 MAFD4 Major affective disorder 4 umls:C1970943 Major Affective Disorder 4 0.21 0 Biomarker CTD_human 100188843 MAFD5 Major affective disorder 5 umls:C1970944 Major Affective Disorder 5 0.21 0 Biomarker CTD_human 100188844 MAFD6 Major affective disorder 6 umls:C1970945 Major Affective Disorder 6 0.21 0 Biomarker CTD_human 100196912 MAFD8 Major affective disorder-8, susceptibility to umls:C2700439 Major Affective Disorder 8 0.21 0 Biomarker CTD_human 100196917 MAFD9 Major affective disorder-9, susceptibility to umls:C2700440 Major Affective Disorder 9 0.21 0 Biomarker CTD_human 4097 MAFG v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G umls:C0008372 Cholestasis, Intrahepatic 0.21 1 Biomarker CTD_human 4099 MAG myelin associated glycoprotein umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 4099 MAG myelin associated glycoprotein umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 4101 MAGEA2 melanoma antigen family A2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 266740 MAGEA2B melanoma antigen family A2B umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4108 MAGEA9 melanoma antigen family A9 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 9947 MAGEC1 melanoma antigen family C1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 728239 MAGED4 melanoma antigen family D4 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 9223 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 9863 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 55110 MAGOHB mago-nashi homolog B (Drosophila) umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 84061 MAGT1 magnesium transporter 1 umls:C2678034 Mental Retardation, X-Linked 95 0.21 0 Biomarker CTD_human 4118 MAL mal, T-cell differentiation protein umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 378938 MALAT1 metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 55534 MAML3 mastermind-like 3 (Drosophila) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 55534 MAML3 mastermind-like 3 (Drosophila) umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 55534 MAML3 mastermind-like 3 (Drosophila) umls:C1710096 Sinonasal undifferentiated carcinoma 0.21 1 Biomarker CTD_human 10046 MAMLD1 mastermind-like domain containing 1 umls:C2678098 Hypospadias 1, X-Linked 0.21 0 Biomarker CTD_human 4121 MAN1A1 mannosidase, alpha, class 1A, member 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4125 MAN2B1 mannosidase, alpha, class 2B, member 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4126 MANBA mannosidase, beta A, lysosomal umls:C2931893 Lysosomal beta-mannosidase deficiency 0.21 0 Biomarker CTD_human 79694 MANEA mannosidase, endo-alpha umls:C1456784 Paranoid Disorders 0.21 1 Biomarker CTD_human 79694 MANEA mannosidase, endo-alpha umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7873 MANF mesencephalic astrocyte-derived neurotrophic factor umls:C0030297 Pancreatic Neoplasms 0.21 0 Biomarker CTD_human 4128 MAOA monoamine oxidase A umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 4128 MAOA monoamine oxidase A umls:C1285261 Fetal Nutrition Disorders 0.21 1 Biomarker CTD_human 4128 MAOA monoamine oxidase A umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 4128 MAOA monoamine oxidase A umls:C1136249 Mental Retardation, X-Linked 0.21 1 Biomarker CTD_human 4128 MAOA monoamine oxidase A umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 4129 MAOB monoamine oxidase B umls:C0002888 Anemia, Megaloblastic 0.21 1 Biomarker CTD_human 4129 MAOB monoamine oxidase B umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 4129 MAOB monoamine oxidase B umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 4129 MAOB monoamine oxidase B umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 4129 MAOB monoamine oxidase B umls:C0031511 Pheochromocytoma 0.21 1 Biomarker CTD_human 4133 MAP2 microtubule-associated protein 2 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 5604 MAP2K1 mitogen-activated protein kinase kinase 1 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 5605 MAP2K2 mitogen-activated protein kinase kinase 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 5607 MAP2K5 mitogen-activated protein kinase kinase 5 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5607 MAP2K5 mitogen-activated protein kinase kinase 5 umls:C0005910 Body Weight 0.21 1 Biomarker CTD_human 5608 MAP2K6 mitogen-activated protein kinase kinase 6 umls:C0009375 Colonic Neoplasms 0.21 1 Therapeutic CTD_human 5609 MAP2K7 mitogen-activated protein kinase kinase 7 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 5609 MAP2K7 mitogen-activated protein kinase kinase 7 umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 5609 MAP2K7 mitogen-activated protein kinase kinase 7 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5609 MAP2K7 mitogen-activated protein kinase kinase 7 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 4215 MAP3K3 mitogen-activated protein kinase kinase kinase 3 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 4216 MAP3K4 mitogen-activated protein kinase kinase kinase 4 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 4217 MAP3K5 mitogen-activated protein kinase kinase kinase 5 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 4217 MAP3K5 mitogen-activated protein kinase kinase kinase 5 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 4217 MAP3K5 mitogen-activated protein kinase kinase kinase 5 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 6885 MAP3K7 mitogen-activated protein kinase kinase kinase 7 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6885 MAP3K7 mitogen-activated protein kinase kinase kinase 7 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 1326 MAP3K8 mitogen-activated protein kinase kinase kinase 8 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 4134 MAP4 microtubule-associated protein 4 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 4135 MAP6 microtubule-associated protein 6 umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0020564 Hypertrophy 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0155862 Pneumonia, Pneumococcal 0.21 1 Biomarker CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0034531 Radiation Injuries, Experimental 0.21 1 Therapeutic CTD_human 5594 MAPK1 mitogen-activated protein kinase 1 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 5602 MAPK10 mitogen-activated protein kinase 10 umls:C3665601 Epileptic encephalopathy, Lennox-Gastaut type 0.21 0 Biomarker CTD_human 5600 MAPK11 mitogen-activated protein kinase 11 umls:C0878544 Cardiomyopathies 0.21 1 Therapeutic CTD_human 5603 MAPK13 mitogen-activated protein kinase 13 umls:C0008370 Cholestasis 0.21 2 Biomarker CTD_human 1432 MAPK14 mitogen-activated protein kinase 14 umls:C0008370 Cholestasis 0.21 2 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0333641 Atrophy 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0020564 Hypertrophy 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0022665 Kidney Neoplasms 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0155862 Pneumonia, Pneumococcal 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0034531 Radiation Injuries, Experimental 0.21 1 Therapeutic CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0243026 Sepsis 0.21 1 Biomarker CTD_human 5595 MAPK3 mitogen-activated protein kinase 3 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 5597 MAPK6 mitogen-activated protein kinase 6 umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 5598 MAPK7 mitogen-activated protein kinase 7 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5599 MAPK8 mitogen-activated protein kinase 8 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 5599 MAPK8 mitogen-activated protein kinase 8 umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 5599 MAPK8 mitogen-activated protein kinase 8 umls:C0162557 Liver Failure, Acute 0.21 1 Biomarker CTD_human 5599 MAPK8 mitogen-activated protein kinase 8 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 5599 MAPK8 mitogen-activated protein kinase 8 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 23162 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 5601 MAPK9 mitogen-activated protein kinase 9 umls:C0022116 Ischemia 0.21 1 Biomarker CTD_human 5601 MAPK9 mitogen-activated protein kinase 9 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 5601 MAPK9 mitogen-activated protein kinase 9 umls:C0027627 Neoplasm Metastasis 0.21 1 Therapeutic CTD_human 5601 MAPK9 mitogen-activated protein kinase 9 umls:C0035126 Reperfusion Injury 0.21 2 Biomarker CTD_human 23005 MAPKBP1 mitogen-activated protein kinase binding protein 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 22919 MAPRE1 microtubule-associated protein, RP/EB family, member 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 22919 MAPRE1 microtubule-associated protein, RP/EB family, member 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 22924 MAPRE3 microtubule-associated protein, RP/EB family, member 3 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 22924 MAPRE3 microtubule-associated protein, RP/EB family, member 3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 4137 MAPT microtubule-associated protein tau umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 4137 MAPT microtubule-associated protein tau umls:C0035229 Respiratory Insufficiency 0.21 1 Biomarker CTD_human 64757 MARC1 mitochondrial amidoxime reducing component 1 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 54996 MARC2 mitochondrial amidoxime reducing component 2 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 64844 MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 220972 MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 4082 MARCKS myristoylated alanine-rich protein kinase C substrate umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 4082 MARCKS myristoylated alanine-rich protein kinase C substrate umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4082 MARCKS myristoylated alanine-rich protein kinase C substrate umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 4139 MARK1 MAP/microtubule affinity-regulating kinase 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 2011 MARK2 MAP/microtubule affinity-regulating kinase 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 2011 MARK2 MAP/microtubule affinity-regulating kinase 2 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 5648 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) umls:C0796279 Carnevale syndrome 0.21 1 Biomarker CTD_human 5648 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 5648 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) umls:C0796032 Malpuech facial clefting syndrome 0.21 1 Biomarker CTD_human 5648 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) umls:C0549567 Pigmentation Disorders 0.21 1 Biomarker CTD_human 10747 MASP2 mannan-binding lectin serine peptidase 2 umls:C0009324 Colitis, Ulcerative 0.21 1 Biomarker CTD_human 10747 MASP2 mannan-binding lectin serine peptidase 2 umls:C0014742 Erythema Multiforme 0.21 1 Biomarker CTD_human 10747 MASP2 mannan-binding lectin serine peptidase 2 umls:C0020951 Immune Complex Diseases 0.21 1 Biomarker CTD_human 10747 MASP2 mannan-binding lectin serine peptidase 2 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 4143 MAT1A methionine adenosyltransferase I, alpha umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 2 Biomarker CTD_human 4143 MAT1A methionine adenosyltransferase I, alpha umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 4143 MAT1A methionine adenosyltransferase I, alpha umls:C0011303 Demyelinating Diseases 0.21 1 Biomarker CTD_human 4143 MAT1A methionine adenosyltransferase I, alpha umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 4143 MAT1A methionine adenosyltransferase I, alpha umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 4143 MAT1A methionine adenosyltransferase I, alpha umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 4144 MAT2A methionine adenosyltransferase II, alpha umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4150 MAZ MYC-associated zinc finger protein (purine-binding transcription factor) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 8932 MBD2 methyl-CpG binding domain protein 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 53615 MBD3 methyl-CpG binding domain protein 3 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 125997 MBD3L2 methyl-CpG binding domain protein 3-like 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 8930 MBD4 methyl-CpG binding domain protein 4 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 114785 MBD6 methyl-CpG binding domain protein 6 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4153 MBL2 mannose-binding lectin (protein C) 2, soluble umls:C0005612 Birth Weight 0.21 1 Biomarker CTD_human 4153 MBL2 mannose-binding lectin (protein C) 2, soluble umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4154 MBNL1 muscleblind-like splicing regulator 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4154 MBNL1 muscleblind-like splicing regulator 1 umls:C0027125 Myotonia 0.21 1 Therapeutic CTD_human 4155 MBP myelin basic protein umls:C0027873 Neuromyelitis Optica 0.21 1 Biomarker CTD_human 4156 MBS1 Moebius syndrome 1 umls:C2931025 Moebius syndrome 1 0.21 0 Biomarker CTD_human 7880 MBS2 Moebius syndrome 2 umls:C1858717 Facial paresis, hereditary, congenital 0.21 0 Biomarker CTD_human 22811 MBS3 Moebius syndrome 3 umls:C1858717 Facial paresis, hereditary, congenital 0.21 0 Biomarker CTD_human 8720 MBTPS1 membrane-bound transcription factor peptidase, site 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 8720 MBTPS1 membrane-bound transcription factor peptidase, site 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 51360 MBTPS2 membrane-bound transcription factor peptidase, site 2 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C1835047 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C0033680 Protein-Losing Enteropathies 0.21 0 Biomarker CTD_human 4158 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 4158 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4159 MC3R melanocortin 3 receptor umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 4160 MC4R melanocortin 4 receptor umls:C0005910 Body Weight 0.21 2 Biomarker CTD_human 4162 MCAM melanoma cell adhesion molecule umls:C0751871 Autoimmune Diseases of the Nervous System 0.21 1 Therapeutic CTD_human 4162 MCAM melanoma cell adhesion molecule umls:C0026769 Multiple Sclerosis 0.21 1 Therapeutic CTD_human 4162 MCAM melanoma cell adhesion molecule umls:C0600467 Neurogenic Inflammation 0.21 1 Therapeutic CTD_human 4163 MCC mutated in colorectal cancers umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 4163 MCC mutated in colorectal cancers umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 4163 MCC mutated in colorectal cancers umls:C0034885 Rectal Neoplasms 0.21 1 Biomarker CTD_human 317668 MCDR3 macular dystrophy, retinal 3 umls:C1426774 MACULAR DYSTROPHY, RETINAL, 3 0.21 0 Biomarker CTD_human 100233226 MCI2 Myocardial infarction, susceptiblity to, 2 umls:C0027051 Myocardial Infarction 0.21 0 Biomarker CTD_human 4170 MCL1 myeloid cell leukemia 1 umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 4175 MCM6 minichromosome maintenance complex component 6 umls:C0268181 Lactose Intolerance, Adult Type 0.21 0 Biomarker CTD_human 8113 MCOP1 microphthalmia, autosomal recessive umls:C1855052 Microphthalmia, Isolated 1 0.21 0 Biomarker CTD_human 85503 MCOPCB1 Microphthalmia, colobomatous, 1 umls:C1845877 Microphthalmia, Isolated, with Coloboma 1 0.21 0 Biomarker CTD_human 80771 MCOPCB2 Microphthalmia, colobomatous, 2 umls:C1854018 Microphthalmia, Isolated, with Coloboma 2 0.21 0 Biomarker CTD_human 8130 MCOPCT1 cataract, congenital, with microphthalmia umls:C1834919 Microphthalmia, Isolated, with Cataract 1 0.21 0 Biomarker CTD_human 8104 MCOR microcoria, congenital umls:C1303009 Microcoria, congenital 0.21 0 Biomarker CTD_human 4183 MCS Miles-Carpenter X-linked mental retardation syndrome umls:C1839735 Miles-Carpenter x-linked mental retardation syndrome 0.21 0 Biomarker CTD_human 63933 MCUR1 mitochondrial calcium uniporter regulator 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 619480 MDBS2 butterfly-shaped pigmentary macular dystrophy 2 umls:C1868569 Patterned dystrophy of retinal pigment epithelium 0.21 0 Biomarker CTD_human 53368 MDC1B Muscular dystrophy, congenital, 1B umls:C1858118 Muscular Dystrophy, Congenital, 1B 0.21 0 Biomarker CTD_human 619409 MDCMP muscular dystrophy, congenital, merosin-positive umls:C1836133 Muscular Dystrophy, Congenital, Merosin-Positive 0.21 0 Biomarker CTD_human 431708 MDD1 Major depressive disorder umls:C1837929 Major Depressive Disorder 1 0.21 0 Biomarker CTD_human 431709 MDD2 Major depressive disorder 2 umls:C1837529 Major Depressive Disorder 2 0.21 0 Biomarker CTD_human 4190 MDH1 malate dehydrogenase 1, NAD (soluble) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 4190 MDH1 malate dehydrogenase 1, NAD (soluble) umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 4191 MDH2 malate dehydrogenase 2, NAD (mitochondrial) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 4191 MDH2 malate dehydrogenase 2, NAD (mitochondrial) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 4191 MDH2 malate dehydrogenase 2, NAD (mitochondrial) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4192 MDK midkine (neurite growth-promoting factor 2) umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 4192 MDK midkine (neurite growth-promoting factor 2) umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 4193 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 100529148 MDNS Mammary-digital-nail syndrome umls:C3150946 MAMMARY-DIGITAL-NAIL SYNDROME 0.21 0 Biomarker CTD_human 4195 MDRV muscular dystrophy, with rimmed vacuoles umls:C1866139 Vacuolar Neuromyopathy 0.21 0 Biomarker CTD_human 4199 ME1 malic enzyme 1, NADP(+)-dependent, cytosolic umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 4199 ME1 malic enzyme 1, NADP(+)-dependent, cytosolic umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 4199 ME1 malic enzyme 1, NADP(+)-dependent, cytosolic umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 4200 ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4200 ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial umls:C0027412 Opioid-Related Disorders 0.21 0 Biomarker CTD_human 2122 MECOM MDS1 and EVI1 complex locus umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 2122 MECOM MDS1 and EVI1 complex locus umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 2122 MECOM MDS1 and EVI1 complex locus umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C1968556 Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations 0.21 0 Biomarker CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0027066 Myoclonus 0.21 1 Biomarker CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0033922 Psychomotor Disorders 0.21 1 Biomarker CTD_human 4204 MECP2 methyl CpG binding protein 2 umls:C0035229 Respiratory Insufficiency 0.21 1 Biomarker CTD_human 5469 MED1 mediator complex subunit 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 5469 MED1 mediator complex subunit 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 5469 MED1 mediator complex subunit 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 9968 MED12 mediator complex subunit 12 umls:C0206686 Adrenocortical Carcinoma 0.21 1 Biomarker CTD_human 9968 MED12 mediator complex subunit 12 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 9282 MED14 mediator complex subunit 14 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 10025 MED16 mediator complex subunit 16 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 9440 MED17 mediator complex subunit 17 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 80306 MED28 mediator complex subunit 28 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 29079 MED4 mediator complex subunit 4 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 4208 MEF2C myocyte enhancer factor 2C umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 4208 MEF2C myocyte enhancer factor 2C umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 4209 MEF2D myocyte enhancer factor 2D umls:C0338480 Migraine without Aura 0.21 1 Biomarker CTD_human 84466 MEGF10 multiple EGF-like-domains 10 umls:C0035220 Respiratory Distress Syndrome, Newborn 0.21 1 Biomarker CTD_human 8422 MEHMO mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome umls:C1846278 MEHMO syndrome 0.21 0 Biomarker CTD_human 4211 MEIS1 Meis homeobox 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 9833 MELK maternal embryonic leucine zipper kinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4222 MEOX1 mesenchyme homeobox 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 4223 MEOX2 mesenchyme homeobox 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 4224 MEP1A meprin A, alpha (PABA peptide hydrolase) umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 10461 MERTK MER proto-oncogene, tyrosine kinase umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 10461 MERTK MER proto-oncogene, tyrosine kinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10461 MERTK MER proto-oncogene, tyrosine kinase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10461 MERTK MER proto-oncogene, tyrosine kinase umls:C0034065 Pulmonary Embolism 0.21 1 Therapeutic CTD_human 10461 MERTK MER proto-oncogene, tyrosine kinase umls:C0040038 Thromboembolism 0.21 1 Therapeutic CTD_human 4232 MEST mesoderm specific transcript umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0027819 Neuroblastoma 0.21 1 Biomarker CTD_human 10988 METAP2 methionyl aminopeptidase 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 92342 METTL18 methyltransferase like 18 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 131965 METTL6 methyltransferase like 6 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 25840 METTL7A methyltransferase like 7A umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 4237 MFAP2 microfibrillar-associated protein 2 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 4240 MFGE8 milk fat globule-EGF factor 8 protein umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 4240 MFGE8 milk fat globule-EGF factor 8 protein umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 9258 MFHAS1 malignant fibrous histiocytoma amplified sequence 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 55669 MFN1 mitofusin 1 umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.21 1 Biomarker CTD_human 9927 MFN2 mitofusin 2 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 83552 MFRP membrane frizzled-related protein umls:C1970236 Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 0.21 0 Biomarker CTD_human 64747 MFSD1 major facilitator superfamily domain containing 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 79157 MFSD11 major facilitator superfamily domain containing 11 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 54842 MFSD6 major facilitator superfamily domain containing 6 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 100188881 MFT2 Trichoepithelioma, multiple familial, 2 umls:C2677505 Trichoepithelioma, Multiple Familial, 2 0.21 0 Biomarker CTD_human 23269 MGA MGA, MAX dimerization protein umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 23269 MGA MGA, MAX dimerization protein umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 84709 MGARP mitochondria-localized glutamic acid-rich protein umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 4247 MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4249 MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 146664 MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 8093 MGCT male germ cell tumor umls:C1336708 Testicular Germ Cell Tumor 0.21 0 Biomarker CTD_human 11343 MGLL monoglyceride lipase umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 92667 MGME1 mitochondrial genome maintenance exonuclease 1 umls:C0013911 Emaciation 0.21 1 Biomarker CTD_human 92667 MGME1 mitochondrial genome maintenance exonuclease 1 umls:C0029089 Ophthalmoplegia 0.21 1 Biomarker CTD_human 92667 MGME1 mitochondrial genome maintenance exonuclease 1 umls:C0035229 Respiratory Insufficiency 0.21 1 Biomarker CTD_human 4255 MGMT O-6-methylguanine-DNA methyltransferase umls:C0027540 Necrosis 0.21 1 Therapeutic CTD_human 4255 MGMT O-6-methylguanine-DNA methyltransferase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4255 MGMT O-6-methylguanine-DNA methyltransferase umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 4256 MGP matrix Gla protein umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4256 MGP matrix Gla protein umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 4256 MGP matrix Gla protein umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 4256 MGP matrix Gla protein umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 4256 MGP matrix Gla protein umls:C0342649 Vascular Calcification 0.21 1 Biomarker CTD_human 192115 MGR1 Migraine with aura, susceptibility to umls:C0149931 Migraine Disorders 0.21 0 Biomarker CTD_human 100188851 MGR12 Migraine, with or without aura, susceptibility to, 12 umls:C0149931 Migraine Disorders 0.21 0 Biomarker CTD_human 8249 MGR2 Migraine, familial typical, susceptibility to umls:C1848066 MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 0.21 0 Biomarker CTD_human 337892 MGR3 Migraine, familial, with or without aura, susceptibility to umls:C0149931 Migraine Disorders 0.21 0 Biomarker CTD_human 338342 MGR4 Migraine, susceptibility to, 4 umls:C0338480 Migraine without Aura 0.21 0 Biomarker CTD_human 387576 MGR5 Migraine with or without aura, susceptibility to, 5 umls:C0149931 Migraine Disorders 0.21 0 Biomarker CTD_human 553992 MGR7 Migraine with aura, susceptibility to, 7 umls:C0154723 Migraine with Aura 0.21 0 Biomarker CTD_human 100188790 MGR8 Migraine, susceptibility to, 8 umls:C0149931 Migraine Disorders 0.21 0 Biomarker CTD_human 100415943 MGR9 Migraine with aura, susceptibility to, 9 umls:C0154723 Migraine with Aura 0.21 0 Biomarker CTD_human 100126595 MGS Mungan syndrome umls:C1969653 Mungan Syndrome 0.21 0 Biomarker CTD_human 4257 MGST1 microsomal glutathione S-transferase 1 umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 619511 MHB myopathy, hyaline body, autosomal recessive umls:C1850709 Myopathy, Hyaline Body, Autosomal Recessive 0.21 0 Biomarker CTD_human 4264 MHS2 malignant hyperthermia susceptibility 2 umls:C2930981 Malignant hyperthermia susceptibility type 2 0.21 0 Biomarker CTD_human 7977 MHS3 Malignant hyperthermia susceptibility 3 umls:C2930982 Malignant hyperthermia susceptibility type 3 0.21 0 Biomarker CTD_human 4265 MHS4 malignant hyperthermia susceptibility 4 umls:C2930983 Malignant hyperthermia susceptibility type 4 0.21 0 Biomarker CTD_human 4266 MHS6 malignant hyperthermia susceptibility 6 umls:C2930985 Malignant hyperthermia susceptibility type 6 0.21 0 Biomarker CTD_human 10386 MHW1 Mental health wellness 1 umls:C1863621 MENTAL HEALTH WELLNESS 1 0.21 0 Biomarker CTD_human 50979 MHW2 Mental health wellness 2 umls:C1863620 MENTAL HEALTH WELLNESS 2 0.21 0 Biomarker CTD_human 440823 MIAT myocardial infarction associated transcript (non-protein coding) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 57534 MIB1 mindbomb E3 ubiquitin protein ligase 1 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 100507436 MICA MHC class I polypeptide-related sequence A umls:C0010051 Coronary Aneurysm 0.21 1 Biomarker CTD_human 10367 MICU1 mitochondrial calcium uptake 1 umls:C0004782 Basal Ganglia Diseases 0.21 1 Biomarker CTD_human 10367 MICU1 mitochondrial calcium uptake 1 umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 54531 MIER2 mesoderm induction early response 1, family member 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 54531 MIER2 mesoderm induction early response 1, family member 2 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C1858558 Rheumatoid Arthritis, Systemic Juvenile 0.21 0 Biomarker CTD_human 4282 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) umls:C0038325 Stevens-Johnson Syndrome 0.21 1 Biomarker CTD_human 84864 MINA MYC induced nuclear antigen umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 9562 MINPP1 multiple inositol-polyphosphate phosphatase 1 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 9562 MINPP1 multiple inositol-polyphosphate phosphatase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9562 MINPP1 multiple inositol-polyphosphate phosphatase 1 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 9562 MINPP1 multiple inositol-polyphosphate phosphatase 1 umls:C2931367 Thyroid cancer, follicular 0.21 0 Biomarker CTD_human 145282 MIPOL1 mirror-image polydactyly 1 umls:C1851100 Laurin-Sandrow syndrome 0.21 0 Biomarker CTD_human 145282 MIPOL1 mirror-image polydactyly 1 umls:C0152427 Polydactyly 0.21 1 Biomarker CTD_human 406894 MIR101-2 microRNA 101-2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 406899 MIR106A microRNA 106a umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406900 MIR106B microRNA 106b umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 406900 MIR106B microRNA 106b umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 406900 MIR106B microRNA 106b umls:C0029463 Osteosarcoma 0.21 1 Biomarker CTD_human 406901 MIR107 microRNA 107 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 406902 MIR10A microRNA 10a umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 406902 MIR10A microRNA 10a umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 406902 MIR10A microRNA 10a umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 406902 MIR10A microRNA 10a umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406902 MIR10A microRNA 10a umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406903 MIR10B microRNA 10b umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 406903 MIR10B microRNA 10b umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 406903 MIR10B microRNA 10b umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406906 MIR122 microRNA 122 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 100302142 MIR1246 microRNA 1246 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 100302142 MIR1246 microRNA 1246 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406910 MIR125A microRNA 125a umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406910 MIR125A microRNA 125a umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 406913 MIR126 microRNA 126 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406914 MIR127 microRNA 127 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 100302123 MIR1275 microRNA 1275 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406919 MIR130A microRNA 130a umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 406919 MIR130A microRNA 130a umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 406919 MIR130A microRNA 130a umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 406920 MIR130B microRNA 130b umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 406920 MIR130B microRNA 130b umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 406920 MIR130B microRNA 130b umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 406920 MIR130B microRNA 130b umls:C0029463 Osteosarcoma 0.21 1 Biomarker CTD_human 406921 MIR132 microRNA 132 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 406921 MIR132 microRNA 132 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 406921 MIR132 microRNA 132 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 406924 MIR134 microRNA 134 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 406924 MIR134 microRNA 134 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406927 MIR136 microRNA 136 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 406928 MIR137 microRNA 137 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 406928 MIR137 microRNA 137 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406929 MIR138-1 microRNA 138-1 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 406931 MIR139 microRNA 139 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 406933 MIR141 microRNA 141 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 406933 MIR141 microRNA 141 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 406934 MIR142 microRNA 142 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406935 MIR143 microRNA 143 umls:C0079731 Lymphoma, B-Cell 0.21 1 Biomarker CTD_human 406937 MIR145 microRNA 145 umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 406937 MIR145 microRNA 145 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 406937 MIR145 microRNA 145 umls:C0011881 Diabetic Nephropathies 0.21 1 Biomarker CTD_human 406937 MIR145 microRNA 145 umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21 1 Biomarker CTD_human 406937 MIR145 microRNA 145 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406937 MIR145 microRNA 145 umls:C0079731 Lymphoma, B-Cell 0.21 1 Biomarker CTD_human 406937 MIR145 microRNA 145 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 100302258 MIR1469 microRNA 1469 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406938 MIR146A microRNA 146a umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 574447 MIR146B microRNA 146b umls:C1956346 Coronary Artery Disease 0.21 1 Biomarker CTD_human 574447 MIR146B microRNA 146b umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 574447 MIR146B microRNA 146b umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 442892 MIR148B microRNA 148b umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 442892 MIR148B microRNA 148b umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 442892 MIR148B microRNA 148b umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 406941 MIR149 microRNA 149 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 406942 MIR150 microRNA 150 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 406946 MIR154 microRNA 154 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 406946 MIR154 microRNA 154 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 406947 MIR155 microRNA 155 umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 406948 MIR15A microRNA 15a umls:C0023487 Leukemia, Promyelocytic, Acute 0.21 1 Therapeutic CTD_human 406948 MIR15A microRNA 15a umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406949 MIR15B microRNA 15b umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406950 MIR16-1 microRNA 16-1 umls:C0023487 Leukemia, Promyelocytic, Acute 0.21 1 Therapeutic CTD_human 406952 MIR17 microRNA 17 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 407975 MIR17HG miR-17-92 cluster host gene (non-protein coding) umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 407975 MIR17HG miR-17-92 cluster host gene (non-protein coding) umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 407975 MIR17HG miR-17-92 cluster host gene (non-protein coding) umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 407975 MIR17HG miR-17-92 cluster host gene (non-protein coding) umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 406995 MIR181A1 microRNA 181a-1 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 406957 MIR181C microRNA 181c umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 406957 MIR181C microRNA 181c umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406957 MIR181C microRNA 181c umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 574457 MIR181D microRNA 181d umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 574457 MIR181D microRNA 181d umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 406959 MIR183 microRNA 183 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 406959 MIR183 microRNA 183 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 406959 MIR183 microRNA 183 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 406959 MIR183 microRNA 183 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406959 MIR183 microRNA 183 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406960 MIR184 microRNA 184 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 406961 MIR185 microRNA 185 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406961 MIR185 microRNA 185 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 406962 MIR186 microRNA 186 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 406962 MIR186 microRNA 186 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 406962 MIR186 microRNA 186 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406962 MIR186 microRNA 186 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406964 MIR188 microRNA 188 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406953 MIR18A microRNA 18a umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406965 MIR190A microRNA 190a umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406965 MIR190A microRNA 190a umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 100126346 MIR190B microRNA 190b umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 406966 MIR191 microRNA 191 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 100302129 MIR1915 microRNA 1915 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406967 MIR192 microRNA 192 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 406968 MIR193A microRNA 193a umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406971 MIR195 microRNA 195 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 442920 MIR196B microRNA 196b umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 442920 MIR196B microRNA 196b umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 442920 MIR196B microRNA 196b umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 406974 MIR197 microRNA 197 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 406974 MIR197 microRNA 197 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406979 MIR19A microRNA 19a umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 406984 MIR200B microRNA 200b umls:C1458155 Breast Neoplasms 0.21 2 Biomarker, Therapeutic CTD_human 406984 MIR200B microRNA 200b umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406984 MIR200B microRNA 200b umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 406984 MIR200B microRNA 200b umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406984 MIR200B microRNA 200b umls:C0027626 Neoplasm Invasiveness 0.21 1 Therapeutic CTD_human 406984 MIR200B microRNA 200b umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 406985 MIR200C microRNA 200c umls:C1458155 Breast Neoplasms 0.21 2 Biomarker, Therapeutic CTD_human 406985 MIR200C microRNA 200c umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 406985 MIR200C microRNA 200c umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 406985 MIR200C microRNA 200c umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 406985 MIR200C microRNA 200c umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 406985 MIR200C microRNA 200c umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 406985 MIR200C microRNA 200c umls:C0027626 Neoplasm Invasiveness 0.21 1 Therapeutic CTD_human 406988 MIR205 microRNA 205 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 406989 MIR206 microRNA 206 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406989 MIR206 microRNA 206 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 574032 MIR20B microRNA 20b umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 574032 MIR20B microRNA 20b umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 406991 MIR21 microRNA 21 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 406991 MIR21 microRNA 21 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 406991 MIR21 microRNA 21 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 406991 MIR21 microRNA 21 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 406993 MIR211 microRNA 211 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 406994 MIR212 microRNA 212 umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker CTD_human 406994 MIR212 microRNA 212 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406994 MIR212 microRNA 212 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 406997 MIR215 microRNA 215 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 406999 MIR217 microRNA 217 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 407000 MIR218-1 microRNA 218-1 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 407000 MIR218-1 microRNA 218-1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 407006 MIR221 microRNA 221 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 407006 MIR221 microRNA 221 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407007 MIR222 microRNA 222 umls:C1168401 Carcinoma, squamous cell of head and neck 0.21 1 Biomarker CTD_human 407007 MIR222 microRNA 222 umls:C0040411 Tongue Neoplasms 0.21 1 Biomarker CTD_human 407010 MIR23A microRNA 23a umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 407011 MIR23B microRNA 23b umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 407012 MIR24-1 microRNA 24-1 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 407014 MIR25 microRNA 25 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 407017 MIR26B microRNA 26b umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 407017 MIR26B microRNA 26b umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407017 MIR26B microRNA 26b umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 407018 MIR27A microRNA 27a umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 407019 MIR27B microRNA 27b umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 407019 MIR27B microRNA 27b umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 407020 MIR28 microRNA 28 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 100422910 MIR2861 microRNA 2861 umls:C3150680 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 0.21 0 Biomarker CTD_human 407022 MIR296 microRNA 296 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 407021 MIR29A microRNA 29a umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 407021 MIR29A microRNA 29a umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 407021 MIR29A microRNA 29a umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 407025 MIR29B2 microRNA 29b-2 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 407026 MIR29C microRNA 29c umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 100126297 MIR300 microRNA 300 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407027 MIR301A microRNA 301a umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 100126318 MIR301B microRNA 301b umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 100126318 MIR301B microRNA 301b umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 442894 MIR302B microRNA 302b umls:C0029463 Osteosarcoma 0.21 1 Therapeutic CTD_human 442895 MIR302C microRNA 302c umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 407029 MIR30A microRNA 30a umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 407029 MIR30A microRNA 30a umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407029 MIR30A microRNA 30a umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 407030 MIR30B microRNA 30b umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 407030 MIR30B microRNA 30b umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407031 MIR30C1 microRNA 30c-1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 407032 MIR30C2 microRNA 30c-2 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 407033 MIR30D microRNA 30d umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 407033 MIR30D microRNA 30d umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 407033 MIR30D microRNA 30d umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407033 MIR30D microRNA 30d umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 407034 MIR30E microRNA 30e umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 407034 MIR30E microRNA 30e umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407034 MIR30E microRNA 30e umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 407035 MIR31 microRNA 31 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 407037 MIR320A microRNA 320a umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 442898 MIR324 microRNA 324 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 442898 MIR324 microRNA 324 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 442898 MIR324 microRNA 324 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 442899 MIR325 microRNA 325 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 442902 MIR330 microRNA 330 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 442903 MIR331 microRNA 331 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 442903 MIR331 microRNA 331 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 442903 MIR331 microRNA 331 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 442903 MIR331 microRNA 331 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 442904 MIR335 microRNA 335 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 442904 MIR335 microRNA 335 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 442905 MIR337 microRNA 337 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 442905 MIR337 microRNA 337 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 442905 MIR337 microRNA 337 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 442905 MIR337 microRNA 337 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 442906 MIR338 microRNA 338 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 442906 MIR338 microRNA 338 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 442907 MIR339 microRNA 339 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 442907 MIR339 microRNA 339 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 442908 MIR340 microRNA 340 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 442908 MIR340 microRNA 340 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 442909 MIR342 microRNA 342 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 442910 MIR345 microRNA 345 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 442911 MIR346 microRNA 346 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 407040 MIR34A microRNA 34a umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407041 MIR34B microRNA 34b umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 407041 MIR34B microRNA 34b umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 407041 MIR34B microRNA 34b umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 407041 MIR34B microRNA 34b umls:C0027659 Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 407042 MIR34C microRNA 34c umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Therapeutic CTD_human 407042 MIR34C microRNA 34c umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 407042 MIR34C microRNA 34c umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 407042 MIR34C microRNA 34c umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 494323 MIR361 microRNA 361 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 494323 MIR361 microRNA 361 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 574030 MIR362 microRNA 362 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 442912 MIR367 microRNA 367 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 442914 MIR369 microRNA 369 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 442914 MIR369 microRNA 369 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 100126317 MIR374B microRNA 374b umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 494324 MIR375 microRNA 375 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 574435 MIR376B microRNA 376b umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 442913 MIR376C microRNA 376c umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 442913 MIR376C microRNA 376c umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 442913 MIR376C microRNA 376c umls:C0677886 Ovarian epithelial cancer 0.21 1 Biomarker CTD_human 494326 MIR377 microRNA 377 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 494329 MIR380 microRNA 380 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 494330 MIR381 microRNA 381 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 494332 MIR383 microRNA 383 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 494333 MIR384 microRNA 384 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 494333 MIR384 microRNA 384 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 574413 MIR409 microRNA 409 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 574413 MIR409 microRNA 409 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 574434 MIR410 microRNA 410 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 574434 MIR410 microRNA 410 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 693121 MIR411 microRNA 411 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 693121 MIR411 microRNA 411 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 494336 MIR424 microRNA 424 umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 554210 MIR429 microRNA 429 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 554210 MIR429 microRNA 429 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 554210 MIR429 microRNA 429 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 554210 MIR429 microRNA 429 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 574034 MIR433 microRNA 433 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 100313923 MIR449C microRNA 449c umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 574411 MIR451A microRNA 451a umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 574412 MIR452 microRNA 452 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 619552 MIR483 microRNA 483 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 619552 MIR483 microRNA 483 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 619554 MIR486-1 microRNA 486-1 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 574441 MIR488 microRNA 488 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 574442 MIR489 microRNA 489 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 574450 MIR493 microRNA 493 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 574506 MIR503 microRNA 503 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 574506 MIR503 microRNA 503 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 574506 MIR503 microRNA 503 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 574506 MIR503 microRNA 503 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 574508 MIR505 microRNA 505 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 574511 MIR506 microRNA 506 umls:C0027659 Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 574466 MIR519C microRNA 519c umls:C0027627 Neoplasm Metastasis 0.21 1 Therapeutic CTD_human 693124 MIR532 microRNA 532 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 693124 MIR532 microRNA 532 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 693124 MIR532 microRNA 532 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 664612 MIR539 microRNA 539 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 664617 MIR542 microRNA 542 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 664617 MIR542 microRNA 542 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 693149 MIR564 microRNA 564 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 693151 MIR566 microRNA 566 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 693167 MIR582 microRNA 582 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 693177 MIR592 microRNA 592 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 693180 MIR595 microRNA 595 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 693183 MIR598 microRNA 598 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 693183 MIR598 microRNA 598 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 693223 MIR638 microRNA 638 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 724022 MIR652 microRNA 652 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 724022 MIR652 microRNA 652 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 100126315 MIR665 microRNA 665 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 768213 MIR671 microRNA 671 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 100126333 MIR708 microRNA 708 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 100126313 MIR744 microRNA 744 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 100126313 MIR744 microRNA 744 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 768212 MIR758 microRNA 758 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 100126348 MIR760 microRNA 760 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 100313838 MIR764 microRNA 764 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 100313838 MIR764 microRNA 764 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 100126309 MIR875 microRNA 875 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 100126314 MIR877 microRNA 877 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 407046 MIR9-1 microRNA 9-1 umls:C0525041 Neurobehavioral Manifestations 0.21 1 Biomarker CTD_human 693235 MIR92B microRNA 92b umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 693235 MIR92B microRNA 92b umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 693235 MIR92B microRNA 92b umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 407050 MIR93 microRNA 93 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 407053 MIR96 microRNA 96 umls:C1384666 Hearing Loss 0.21 2 Biomarker CTD_human 407054 MIR98 microRNA 98 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407054 MIR98 microRNA 98 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 407055 MIR99A microRNA 99a umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 407056 MIR99B microRNA 99b umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 407056 MIR99B microRNA 99b umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 407056 MIR99B microRNA 99b umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 407056 MIR99B microRNA 99b umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 407056 MIR99B microRNA 99b umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 406884 MIRLET7B microRNA let-7b umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 406884 MIRLET7B microRNA let-7b umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406884 MIRLET7B microRNA let-7b umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 406886 MIRLET7D microRNA let-7d umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406886 MIRLET7D microRNA let-7d umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 406887 MIRLET7E microRNA let-7e umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406891 MIRLET7I microRNA let-7i umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 406891 MIRLET7I microRNA let-7i umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 406891 MIRLET7I microRNA let-7i umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 4286 MITF microphthalmia-associated transcription factor umls:C1845069 Albinism ocular late onset sensorineural deafness 0.21 0 Biomarker CTD_human 4286 MITF microphthalmia-associated transcription factor umls:C0078918 Albinism, Oculocutaneous 0.21 1 Biomarker CTD_human 4286 MITF microphthalmia-associated transcription factor umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 4286 MITF microphthalmia-associated transcription factor umls:C0011053 Deafness 0.21 1 Biomarker CTD_human 4286 MITF microphthalmia-associated transcription factor umls:C0151779 Melanoma, Cutaneous Malignant 0.21 1 Biomarker CTD_human 4286 MITF microphthalmia-associated transcription factor umls:C3152204 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 0.21 1 Biomarker CTD_human 4288 MKI67 marker of proliferation Ki-67 umls:C0206637 Chondrosarcoma, Mesenchymal 0.21 1 Biomarker CTD_human 4288 MKI67 marker of proliferation Ki-67 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 4288 MKI67 marker of proliferation Ki-67 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4288 MKI67 marker of proliferation Ki-67 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 57496 MKL2 MKL/myocardin-like 2 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 8569 MKNK1 MAP kinase interacting serine/threonine kinase 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 23209 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 23209 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 4291 MLF1 myeloid leukemia factor 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4292 MLH1 mutL homolog 1 umls:C1861975 Cafe au lait spots, multiple 0.21 0 Biomarker CTD_human 27030 MLH3 mutL homolog 3 umls:C0009405 Colorectal Neoplasms, Hereditary Nonpolyposis 0.21 1 Biomarker CTD_human 27030 MLH3 mutL homolog 3 umls:C0014170 Endometrial Neoplasms 0.21 0 Biomarker CTD_human 8028 MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 8028 MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 4295 MLN motilin umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 8201 MLRL Myeloid leukemia-related gene (myeloid tumor suppressor) umls:C1832510 MYELOID TUMOR SUPPRESSOR 0.21 0 Biomarker CTD_human 51085 MLXIPL MLX interacting protein-like umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 23531 MMD monocyte to macrophage differentiation-associated umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 221938 MMD2 monocyte to macrophage differentiation-associated 2 umls:C2750077 Miyoshi Muscular Dystrophy 2 0.21 0 Biomarker CTD_human 80767 MMDFS Multiple mitochondrial dysfunctions syndrome umls:C3276432 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 0.21 0 Biomarker CTD_human 4311 MME membrane metallo-endopeptidase umls:C2316212 Cryopyrin-Associated Periodic Syndromes 0.21 1 Biomarker CTD_human 4311 MME membrane metallo-endopeptidase umls:C0011882 Diabetic Neuropathies 0.21 1 Biomarker CTD_human 4311 MME membrane metallo-endopeptidase umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 4311 MME membrane metallo-endopeptidase umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 4311 MME membrane metallo-endopeptidase umls:C1565489 Renal Insufficiency 0.21 1 Biomarker CTD_human 260403 MMEDF Macrocephaly with multiple epiphyseal dysplasia and distinctive facies umls:C1846722 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 0.21 0 Biomarker CTD_human 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0028840 Ocular Hypertension 0.21 1 Therapeutic CTD_human 4320 MMP11 matrix metallopeptidase 11 (stromelysin 3) umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4321 MMP12 matrix metallopeptidase 12 (macrophage elastase) umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4321 MMP12 matrix metallopeptidase 12 (macrophage elastase) umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 4321 MMP12 matrix metallopeptidase 12 (macrophage elastase) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4321 MMP12 matrix metallopeptidase 12 (macrophage elastase) umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 4322 MMP13 matrix metallopeptidase 13 (collagenase 3) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 4322 MMP13 matrix metallopeptidase 13 (collagenase 3) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4324 MMP15 matrix metallopeptidase 15 (membrane-inserted) umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4327 MMP19 matrix metallopeptidase 19 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0003493 Aortic Diseases 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0005944 Bone Diseases, Metabolic 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0005967 Bone Neoplasms 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0006663 Calcinosis 0.21 2 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0011882 Diabetic Neuropathies 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0023283 Leishmaniasis, Cutaneous 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0023891 Liver Cirrhosis, Alcoholic 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0024689 Mandibular Diseases 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0024796 Marfan Syndrome 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0024950 Maxillary Diseases 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0027439 Nasopharyngeal Neoplasms 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C2936380 Neointima 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0027626 Neoplasm Invasiveness 0.21 4 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0028433 Nose Neoplasms 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C0029445 Osteonecrosis 0.21 1 Biomarker CTD_human 4313 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) umls:C1336708 Testicular Germ Cell Tumor 0.21 1 Biomarker CTD_human 9313 MMP20 matrix metallopeptidase 20 umls:C1290537 Amelogenesis imperfecta pigmented hypomaturation type 0.21 0 Biomarker CTD_human 118856 MMP21 matrix metallopeptidase 21 umls:C0206644 Histiocytoma, Benign Fibrous 0.21 1 Biomarker CTD_human 118856 MMP21 matrix metallopeptidase 21 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 56547 MMP26 matrix metallopeptidase 26 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4314 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 4314 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 4314 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4316 MMP7 matrix metallopeptidase 7 (matrilysin, uterine) umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4317 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 4317 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 4317 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) umls:C0043251 Wounds and Injuries 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0003493 Aortic Diseases 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0003496 Aortic Rupture 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0006663 Calcinosis 0.21 2 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0007621 Cell Transformation, Neoplastic 0.21 3 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C2937358 Cerebral Hemorrhage 0.21 5 Biomarker, Therapeutic CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0011882 Diabetic Neuropathies 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0158252 Intervertebral disc disease 0.21 0 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0023176 Lead Poisoning 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0024143 Lupus Nephritis 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0024796 Marfan Syndrome 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C2751322 Metaphyseal Anadysplasia 2 0.21 0 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0026552 Morphine Dependence 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C2936380 Neointima 0.21 1 Biomarker CTD_human 4318 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 100529147 MMRFCGU Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations umls:C3150939 BEAULIEU-BOYCOTT-INNES SYNDROME 0.21 0 Biomarker CTD_human 338340 MMS Malignant mesothelioma, susceptibility to umls:C0345967 Mesothelioma, Malignant 0.21 0 Biomarker CTD_human 352956 MMVP2 myxomatous mitral valve prolapse 2 umls:C1843003 Mitral Valve Prolapse, Myxomatous 2 0.21 0 Biomarker CTD_human 100034705 MMVP3 Mitral valve prolapse, myxomatous 3 umls:C1835814 Mitral Valve Prolapse, Myxomatous 3 0.21 0 Biomarker CTD_human 4330 MN1 meningioma (disrupted in balanced translocation) 1 umls:C1333989 Meningioma, familial 0.21 0 Biomarker CTD_human 4330 MN1 meningioma (disrupted in balanced translocation) 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4332 MNDA myeloid cell nuclear differentiation antigen umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 100188855 MNDEC Microtia with nasolacrimal duct imperforation and eye coloboma umls:C2678482 Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma 0.21 0 Biomarker CTD_human 59081 MNG2 multinodular goiter 2 umls:C1846033 Goiter, Multinodular 2 0.21 0 Biomarker CTD_human 94337 MNG3 Multinodular goiter-3 umls:C1853686 Goiter, Multinodular 3 0.21 0 Biomarker CTD_human 117192 MNRI meningioma, radiation-induced umls:C1853554 Radiation induced meningioma 0.21 0 Biomarker CTD_human 4335 MNT MAX network transcriptional repressor umls:C1955870 Classical Lissencephalies and Subcortical Band Heterotopias 0.21 1 Biomarker CTD_human 4335 MNT MAX network transcriptional repressor umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 4335 MNT MAX network transcriptional repressor umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 4340 MOG myelin oligodendrocyte glycoprotein umls:C0522224 Paralysis 0.21 1 Biomarker CTD_human 84315 MON1A MON1 secretory trafficking family member A umls:C0012715 Iron Metabolism Disorders 0.21 1 Biomarker CTD_human 10933 MORF4L1 mortality factor 4 like 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 79906 MORN1 MORN repeat containing 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 51660 MPC1 mitochondrial pyruvate carrier 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 780920 MPD3 Myopathy, distal 3 umls:C0751336 Distal Myopathies 0.21 0 Biomarker CTD_human 574047 MPDMRS Martin-Probst deafness-mental retardation syndrome umls:C1845285 Martin-Probst Deafness-Mental Retardation Syndrome 0.21 0 Biomarker CTD_human 219972 MPEG1 macrophage expressed 1 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4352 MPL MPL proto-oncogene, thrombopoietin receptor umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0022593 Keratosis 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0030305 Pancreatitis 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0036982 Shock, Hemorrhagic 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0040954 Trichuriasis 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0042109 Urticaria 0.21 1 Biomarker CTD_human 4353 MPO myeloperoxidase umls:C0043251 Wounds and Injuries 0.21 1 Biomarker CTD_human 4354 MPP1 membrane protein, palmitoylated 1, 55kDa umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 4354 MPP1 membrane protein, palmitoylated 1, 55kDa umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 143098 MPP7 membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 23164 MPRIP myosin phosphatase Rho interacting protein umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 4358 MPV17 MpV17 mitochondrial inner membrane protein umls:C0009197 Cochlear Diseases 0.21 1 Biomarker CTD_human 4358 MPV17 MpV17 mitochondrial inner membrane protein umls:C0751651 Mitochondrial Diseases 0.21 1 Biomarker CTD_human 4358 MPV17 MpV17 mitochondrial inner membrane protein umls:C0549567 Pigmentation Disorders 0.21 1 Biomarker CTD_human 4358 MPV17 MpV17 mitochondrial inner membrane protein umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 4359 MPZ myelin protein zero umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 4359 MPZ myelin protein zero umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 9019 MPZL1 myelin protein zero-like 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 9019 MPZL1 myelin protein zero-like 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 9019 MPZL1 myelin protein zero-like 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 22808 MRAS muscle RAS oncogene homolog umls:C0007273 Carotid Artery Diseases 0.21 1 Biomarker CTD_human 4360 MRC1 mannose receptor, C type 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 9902 MRC2 mannose receptor, C type 2 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 9902 MRC2 mannose receptor, C type 2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 9902 MRC2 mannose receptor, C type 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4361 MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8011 MROS Melkersson-Rosenthal syndrome umls:C0025235 Melkersson-Rosenthal Syndrome 0.21 0 Biomarker CTD_human 28998 MRPL13 mitochondrial ribosomal protein L13 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 28998 MRPL13 mitochondrial ribosomal protein L13 umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 28998 MRPL13 mitochondrial ribosomal protein L13 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 28998 MRPL13 mitochondrial ribosomal protein L13 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 28998 MRPL13 mitochondrial ribosomal protein L13 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 740 MRPL49 mitochondrial ribosomal protein L49 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 65005 MRPL9 mitochondrial ribosomal protein L9 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 64963 MRPS11 mitochondrial ribosomal protein S11 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 64963 MRPS11 mitochondrial ribosomal protein S11 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 51021 MRPS16 mitochondrial ribosomal protein S16 umls:C1864843 Combined Oxidative Phosphorylation Deficiency 2 0.21 0 Biomarker CTD_human 28973 MRPS18B mitochondrial ribosomal protein S18B umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 28973 MRPS18B mitochondrial ribosomal protein S18B umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 56945 MRPS22 mitochondrial ribosomal protein S22 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 51649 MRPS23 mitochondrial ribosomal protein S23 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 28957 MRPS28 mitochondrial ribosomal protein S28 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 51081 MRPS7 mitochondrial ribosomal protein S7 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 4364 MRSD mental retardation-skeletal dysplasia umls:C1839729 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 0.21 0 Biomarker CTD_human 114890 MRSS Mental retardation, X-linked, with short stature umls:C1845845 Mental Retardation, X-Linked, with Short Stature 0.21 0 Biomarker CTD_human 8126 MRST Mental retardation, severe, with spasticity and tapetoretinal umls:C1864549 Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration 0.21 0 Biomarker CTD_human 100101425 MRT10 mental retardation, non-syndromic, autosomal recessive, 10 umls:C1970194 Mental Retardation, Autosomal Recessive 10 0.21 0 Biomarker CTD_human 100101426 MRT11 mental retardation, non-syndromic, autosomal recessive, 11 umls:C1970193 Mental Retardation, Autosomal Recessive 11 0.21 0 Biomarker CTD_human 100009675 MRT4 mental retardation, non-syndromic, autosomal recessive, 4 umls:C1970179 Mental Retardation, Autosomal Recessive 4 0.21 0 Biomarker CTD_human 100101423 MRT8 mental retardation, non-syndromic, autosomal recessive, 8 umls:C1970196 Mental Retardation, Autosomal Recessive 8 0.21 0 Biomarker CTD_human 100101424 MRT9 mental retardation, non-syndromic, autosomal recessive, 9 umls:C1970195 Mental Retardation, Autosomal Recessive 9 0.21 0 Biomarker CTD_human 4378 MRX14 mental retardation, X-linked 14 umls:C0796220 Mental retardation, X-linked 14 0.21 0 Biomarker CTD_human 4384 MRX20 mental retardation, X-linked 20 umls:C0796226 Mental Retardation, X-Linked 20 0.21 0 Biomarker CTD_human 4387 MRX23 mental retardation, X-linked 23 umls:C0796229 Mental Retardation, X-Linked 23 0.21 0 Biomarker CTD_human 4406 MRX42 mental retardation, X-linked 42 umls:C1845810 Mental Retardation, X-Linked 42 0.21 0 Biomarker CTD_human 4412 MRX49 mental retardation, X-linked 49 umls:C1417292 MENTAL RETARDATION, X-LINKED 49 0.21 0 Biomarker CTD_human 4413 MRX50 mental retardation, X-linked 50 umls:C1848087 Mental Retardation, X-Linked 50 0.21 0 Biomarker CTD_human 4415 MRX52 mental retardation, X-linked 52 umls:C1845298 Mental Retardation, X-Linked 52 0.21 0 Biomarker CTD_human 4416 MRX53 mental retardation, X-linked 53 umls:C1845889 Mental Retardation, X-Linked 53 0.21 0 Biomarker CTD_human 23694 MRX73 mental retardation, X-linked 73 umls:C1845860 Mental Retardation, X-Linked 73 0.21 0 Biomarker CTD_human 93991 MRX77 mental retardation, X-linked 77 umls:C1845499 Mental Retardation, X-Linked 77 0.21 0 Biomarker CTD_human 170530 MRX78 mental retardation, X-linked 78 umls:C1845181 Mental Retardation, X-Linked 78 0.21 0 Biomarker CTD_human 266678 MRX81 mental retardation, X-linked 81 umls:C1845531 Mental Retardation, X-Linked 81 0.21 0 Biomarker CTD_human 378484 MRX82 mental retardation, X-linked 82 umls:C1845286 Mental Retardation, X-Linked 82 0.21 0 Biomarker CTD_human 378882 MRX84 mental retardation, X-linked 84 umls:C1845297 Mental Retardation, X-Linked 84 0.21 0 Biomarker CTD_human 50644 MRXS11 mental retardation, X-linked, syndromic 11 umls:C1846145 Orofaciodigital syndrome, Shashi type 0.21 0 Biomarker CTD_human 8246 MRXS12 Mental retardation, X-linked, syndromic 12 umls:C1839792 Mental Retardation, X-Linked, Syndromic 12 0.21 0 Biomarker CTD_human 4429 MRXS7 mental retardation, X-linked, syndromic 7 umls:C1846170 Mental retardation X-linked syndromic 7 0.21 0 Biomarker CTD_human 57791 MRXSA Armfield X-linked mental retardation syndrome umls:C1846057 Armfield X-Linked Mental Retardation Syndrome 0.21 0 Biomarker CTD_human 57792 MRXSAB Abidi X-linked mental retardation syndrome umls:C1846056 Abidi X-linked mental retardation syndrome 0.21 0 Biomarker CTD_human 57790 MRXSL Lubs X-linked mental retardation syndrome umls:C1846058 Lubs X-linked mental retardation syndrome 0.21 0 Biomarker CTD_human 100271694 MS2 Multiple sclerosis, susceptibility to, 2 umls:C0026769 Multiple Sclerosis 0.21 0 Biomarker CTD_human 100271695 MS3 Multiple sclerosis, susceptibility to, 3 umls:C0026769 Multiple Sclerosis 0.21 0 Biomarker CTD_human 100271696 MS4 Multiple sclerosis, susceptiblity to, 4 umls:C0026769 Multiple Sclerosis 0.21 0 Biomarker CTD_human 931 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 2206 MS4A2 membrane-spanning 4-domains, subfamily A, member 2 umls:C1840253 Ige Responsiveness, Atopic 0.21 0 Biomarker CTD_human 51338 MS4A4A membrane-spanning 4-domains, subfamily A, member 4A umls:C0002395 Alzheimer Disease 0.21 1 Biomarker CTD_human 51338 MS4A4A membrane-spanning 4-domains, subfamily A, member 4A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 64231 MS4A6A membrane-spanning 4-domains, subfamily A, member 6A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4434 MSD microcephaly with spastic diplegia (Paine syndrome) umls:C1412041 Paine syndrome 0.21 0 Biomarker CTD_human 343930 MSGN1 mesogenin 1 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 4436 MSH2 mutS homolog 2 umls:C2931459 Lynch syndrome I (site-specific colonic cancer) 0.21 1 Biomarker CTD_human 4437 MSH3 mutS homolog 3 umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 2956 MSH6 mutS homolog 6 umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 2956 MSH6 mutS homolog 6 umls:C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 2956 MSH6 mutS homolog 6 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2956 MSH6 mutS homolog 6 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10232 MSLN mesothelin umls:C0206687 Carcinoma, Endometrioid 0.21 1 Biomarker CTD_human 10232 MSLN mesothelin umls:C0024232 Lymphatic Metastasis 0.21 1 Biomarker CTD_human 10232 MSLN mesothelin umls:C3714739 Neoplasms, Mesothelial 0.21 2 Biomarker CTD_human 10232 MSLN mesothelin umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4478 MSN moesin umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 4478 MSN moesin umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 4481 MSR1 macrophage scavenger receptor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4481 MSR1 macrophage scavenger receptor 1 umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 4482 MSRA methionine sulfoxide reductase A umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 253827 MSRB3 methionine sulfoxide reductase B3 umls:C1384666 Hearing Loss 0.21 1 Biomarker CTD_human 619407 MSSD syndactyly, mesoaxial synostotic, with phalangeal reduction umls:C1836206 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 0.21 0 Biomarker CTD_human 4486 MST1R macrophage stimulating 1 receptor (c-met-related tyrosine kinase) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 4486 MST1R macrophage stimulating 1 receptor (c-met-related tyrosine kinase) umls:C0029463 Osteosarcoma 0.21 1 Biomarker CTD_human 2660 MSTN myostatin umls:C2931112 Myostatin-related muscle hypertrophy 0.21 2 Biomarker CTD_human 4487 MSX1 msh homeobox 1 umls:C0376634 Craniofacial Abnormalities 0.21 4 Biomarker CTD_human 4487 MSX1 msh homeobox 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4487 MSX1 msh homeobox 1 umls:C0040427 Tooth Abnormalities 0.21 1 Biomarker CTD_human 4488 MSX2 msh homeobox 2 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 4489 MT1A metallothionein 1A umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 4489 MT1A metallothionein 1A umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 4489 MT1A metallothionein 1A umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 4489 MT1A metallothionein 1A umls:C0024232 Lymphatic Metastasis 0.21 1 Biomarker CTD_human 4489 MT1A metallothionein 1A umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 4489 MT1A metallothionein 1A umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 4495 MT1G metallothionein 1G umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 4502 MT2A metallothionein 2A umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 4502 MT2A metallothionein 2A umls:C0018800 Cardiomegaly 0.21 1 Therapeutic CTD_human 4502 MT2A metallothionein 2A umls:C0018799 Heart Diseases 0.21 1 Therapeutic CTD_human 4502 MT2A metallothionein 2A umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 4502 MT2A metallothionein 2A umls:C0282612 Prostatic Intraepithelial Neoplasia 0.21 1 Biomarker CTD_human 4502 MT2A metallothionein 2A umls:C0005695 Urinary Bladder Neoplasms 0.21 2 Biomarker CTD_human 4504 MT3 metallothionein 3 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 9112 MTA1 metastasis associated 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 9219 MTA2 metastasis associated 1 family, member 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 4507 MTAP methylthioadenosine phosphorylase umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 404716 MTBS1 mycobacterium tuberculosis, susceptibility to infection by, 1 umls:C1842762 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 100188829 MTBS2 Mycobacterium tuberculosis, susceptibility to, 2 umls:C1970235 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 0.21 0 Biomarker CTD_human 100302686 MTBS3 Mycobacterium tuberculosis, susceptibility to, 3 umls:C2752035 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 0.21 0 Biomarker CTD_human 57789 MTBSX Mycobacterium tuberculosis, susceptibility to infection by umls:C1866629 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED 0.21 0 Biomarker CTD_human 4520 MTF1 metal-regulatory transcription factor 1 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 4522 MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase umls:C1866558 Neural tube defect, folate-sensitive 0.21 0 Biomarker CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 9 Biomarker CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0270612 Leukoencephalopathies 0.21 1 Biomarker CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0524948 Maxillofacial Abnormalities 0.21 1 Biomarker CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0920269 Microsatellite Instability 0.21 1 Biomarker CTD_human 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 4543 MTNR1A melatonin receptor 1A umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 4543 MTNR1A melatonin receptor 1A umls:C0035309 Retinal Diseases 0.21 1 Biomarker CTD_human 4544 MTNR1B melatonin receptor 1B umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0262584 Carcinoma, Small Cell 0.21 1 Biomarker CTD_human 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 2475 MTOR mechanistic target of rapamycin (serine/threonine kinase) umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 55149 MTPAP mitochondrial poly(A) polymerase umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 2 Biomarker CTD_human 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0270612 Leukoencephalopathies 0.21 1 Biomarker CTD_human 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C1866558 Neural tube defect, folate-sensitive 0.21 0 Biomarker CTD_human 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C1861537 Orofacial Cleft 1 0.21 0 Biomarker CTD_human 4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C0001430 Adenoma 0.21 1 Biomarker CTD_human 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C1866558 Neural tube defect, folate-sensitive 0.21 0 Biomarker CTD_human 9788 MTSS1 metastasis suppressor 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4547 MTTP microsomal triglyceride transfer protein umls:C2930930 Abdominal obesity metabolic syndrome 0.21 0 Biomarker CTD_human 4582 MUC1 mucin 1, cell surface associated umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Therapeutic CTD_human 94025 MUC16 mucin 16, cell surface associated umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 283463 MUC19 mucin 19, oligomeric umls:C0021390 Inflammatory Bowel Diseases 0.21 1 Biomarker CTD_human 4583 MUC2 mucin 2, oligomeric mucus/gel-forming umls:C0034885 Rectal Neoplasms 0.21 1 Biomarker CTD_human 4585 MUC4 mucin 4, cell surface associated umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4585 MUC4 mucin 4, cell surface associated umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 100302560 MUHH2 Hypotrichosis, hereditary, Marie Unna type, 2 umls:C2748535 Hypotrichosis 5 0.21 0 Biomarker CTD_human 4594 MUT methylmalonyl CoA mutase umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 4595 MUTYH mutY homolog umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4595 MUTYH mutY homolog umls:C0206711 Pilomatrixoma 0.21 0 Biomarker CTD_human 4598 MVK mevalonate kinase umls:C0015230 Exanthema 0.21 1 Biomarker CTD_human 9961 MVP major vault protein umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 4599 MX1 MX dynamin-like GTPase 1 umls:C0015625 Fanconi Anemia 0.21 1 Biomarker CTD_human 4599 MX1 MX dynamin-like GTPase 1 umls:C0016627 Influenza in Birds 0.21 1 Therapeutic CTD_human 4599 MX1 MX dynamin-like GTPase 1 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 4599 MX1 MX dynamin-like GTPase 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 4599 MX1 MX dynamin-like GTPase 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4600 MX2 MX dynamin-like GTPase 2 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 4084 MXD1 MAX dimerization protein 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 4601 MXI1 MAX interactor 1, dimerization protein umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 246750 MYAS1 Myasthenia gravis with thymus hyperplasia umls:C1846838 Myasthenia Gravis with Thymus Hyperplasia 0.21 0 Biomarker CTD_human 4603 MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Biomarker CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0008924 Cleft Lip 0.21 1 Biomarker CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0015695 Fatty Liver 0.21 1 Therapeutic CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 4609 MYC v-myc avian myelocytomatosis viral oncogene homolog umls:C0023904 Liver Neoplasms, Experimental 0.21 3 Biomarker CTD_human 26292 MYCBP MYC binding protein umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 4613 MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 4613 MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 4613 MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 4615 MYD88 myeloid differentiation primary response 88 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 4615 MYD88 myeloid differentiation primary response 88 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 4615 MYD88 myeloid differentiation primary response 88 umls:C0024301 Lymphoma, Follicular 0.21 1 Biomarker CTD_human 4615 MYD88 myeloid differentiation primary response 88 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 56005 MYDGF myeloid-derived growth factor umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 4618 MYF6 myogenic factor 6 (herculin) umls:C0013264 Muscular Dystrophy, Duchenne 0.21 0 Biomarker CTD_human 4618 MYF6 myogenic factor 6 (herculin) umls:C1834558 Myopathy, Centronuclear, Autosomal Dominant 0.21 0 Biomarker CTD_human 4628 MYH10 myosin, heavy chain 10, non-muscle umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 8735 MYH13 myosin, heavy chain 13, skeletal muscle umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 79784 MYH14 myosin, heavy chain 14, non-muscle umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C3495498 Cardiomyopathy, Familial Hypertrophic, 1 0.21 0 Biomarker CTD_human 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.21 1 Biomarker CTD_human 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0242231 Coronary Stenosis 0.21 1 Biomarker CTD_human 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C2931716 Deafness, autosomal dominant nonsyndromic sensorineural 17 0.21 0 Biomarker CTD_human 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C0020544 Hypertension, Renal 0.21 1 Biomarker CTD_human 4627 MYH9 myosin, heavy chain 9, non-muscle umls:C0027706 Nephritis, Hereditary 0.21 1 Biomarker CTD_human 4632 MYL1 myosin, light chain 1, alkali; skeletal, fast umls:C0018805 Heart Injuries 0.21 1 Biomarker CTD_human 140465 MYL6B myosin, light chain 6B, alkali, smooth muscle and non-muscle umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 58498 MYL7 myosin, light chain 7, regulatory umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Biomarker CTD_human 10398 MYL9 myosin, light chain 9, regulatory umls:C1527311 Brain Edema 0.21 1 Biomarker CTD_human 10398 MYL9 myosin, light chain 9, regulatory umls:C0042373 Vascular Diseases 0.21 1 Biomarker CTD_human 29116 MYLIP myosin regulatory light chain interacting protein umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 4638 MYLK myosin light chain kinase umls:C1527311 Brain Edema 0.21 1 Biomarker CTD_human 4638 MYLK myosin light chain kinase umls:C0017178 Gastrointestinal Diseases 0.21 1 Biomarker CTD_human 4638 MYLK myosin light chain kinase umls:C0017638 Glioma 0.21 1 Biomarker CTD_human 4638 MYLK myosin light chain kinase umls:C0020443 Hypercholesterolemia 0.21 1 Biomarker CTD_human 4638 MYLK myosin light chain kinase umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 4638 MYLK myosin light chain kinase umls:C0027626 Neoplasm Invasiveness 0.21 2 Biomarker CTD_human 4638 MYLK myosin light chain kinase umls:C0042373 Vascular Diseases 0.21 1 Biomarker CTD_human 50960 MYMY1 moyamoya disease 1 umls:C2931384 Moyamoya disease 1 0.21 0 Biomarker CTD_human 493818 MYMY3 moyamoya disease 3 umls:C1837418 Moyamoya disease 3 0.21 0 Biomarker CTD_human 4651 MYO10 myosin X umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 4430 MYO1B myosin IB umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 4542 MYO1F myosin IF umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 53904 MYO3A myosin IIIA umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4644 MYO5A myosin VA (heavy chain 12, myoxin) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4645 MYO5B myosin VB umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 4645 MYO5B myosin VB umls:C0021831 Intestinal Diseases 0.21 1 Biomarker CTD_human 4645 MYO5B myosin VB umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 4645 MYO5B myosin VB umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 55930 MYO5C myosin VC umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 4646 MYO6 myosin VI umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 93649 MYOCD myocardin umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 4654 MYOD1 myogenic differentiation 1 umls:C0235833 Hernias, Diaphragmatic, Congenital 0.21 1 Biomarker CTD_human 4654 MYOD1 myogenic differentiation 1 umls:C0033054 Prenatal Exposure Delayed Effects 0.21 1 Biomarker CTD_human 4657 MYP1 myopia 1 (X-linked) umls:C1839612 Myopia 1 0.21 0 Biomarker CTD_human 553195 MYP10 myopia 10 umls:C1836503 Myopia 10 0.21 0 Biomarker CTD_human 594832 MYP11 myopia 11 (high grade, autosomal dominant) umls:C1864941 Myopia 11 0.21 0 Biomarker CTD_human 664780 MYP12 myopia 12 (high grade, autosomal dominant) umls:C1864940 Myopia 12 0.21 0 Biomarker CTD_human 677764 MYP13 myopia 13 umls:C1845096 Myopia 13 0.21 0 Biomarker CTD_human 100359407 MYP14 myopia 14 umls:C1853196 Myopia 14 0.21 0 Biomarker CTD_human 100294716 MYP15 myopia 15 umls:C2675180 Myopia 15 0.21 0 Biomarker CTD_human 100270641 MYP16 myopia 16 umls:C2675523 Myopia 16 0.21 0 Biomarker CTD_human 100359401 MYP17 myopia 17 umls:C0027092 Myopia 0.21 0 Biomarker CTD_human 8782 MYP3 myopia 3 (high grade, autosomal dominant) umls:C1864111 Myopia 3 0.21 0 Biomarker CTD_human 393093 MYP4 myopia 4 (high grade, autosomal dominant) umls:C0027092 Myopia 0.21 0 Biomarker CTD_human 404682 MYP5 myopia 5 (high grade, autosomal dominant) umls:C1837972 Myopia 5 0.21 0 Biomarker CTD_human 553190 MYP7 myopia 7 umls:C1836506 Myopia 7 0.21 0 Biomarker CTD_human 553192 MYP8 myopia 8 umls:C1836505 Myopia 8 0.21 0 Biomarker CTD_human 553194 MYP9 myopia 9 umls:C1836504 Myopia 9 0.21 0 Biomarker CTD_human 10443 N4BP2L2 NEDD4 binding protein 2-like 2 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 10443 N4BP2L2 NEDD4 binding protein 2-like 2 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 100380876 NAFLD1 Fatty liver disease 1, susceptiblity to umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 0 Biomarker CTD_human 100462725 NAFLD2 Fatty liver disease, nonalcoholic, susceptibility to, 2 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 0 Biomarker CTD_human 55577 NAGK N-acetylglucosamine kinase umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4669 NAGLU N-acetylglucosaminidase, alpha umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 4669 NAGLU N-acetylglucosaminidase, alpha umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 162417 NAGS N-acetylglutamate synthase umls:C0220994 Hyperammonemia 0.21 2 Biomarker CTD_human 10135 NAMPT nicotinamide phosphoribosyltransferase umls:C0009319 Colitis 0.21 1 Biomarker CTD_human 10135 NAMPT nicotinamide phosphoribosyltransferase umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10135 NAMPT nicotinamide phosphoribosyltransferase umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 10135 NAMPT nicotinamide phosphoribosyltransferase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 79923 NANOG Nanog homeobox umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.21 1 Biomarker CTD_human 9 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) umls:C0008625 Chromosome Aberrations 0.21 1 Biomarker CTD_human 9 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 9 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C1956346 Coronary Artery Disease 0.21 1 Biomarker CTD_human 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 2 Biomarker CTD_human 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C0023530 Leukopenia 0.21 1 Biomarker CTD_human 10 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 89795 NAV3 neuron navigator 3 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 89795 NAV3 neuron navigator 3 umls:C0027412 Opioid-Related Disorders 0.21 1 Biomarker CTD_human 51594 NBAS neuroblastoma amplified sequence umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 51594 NBAS neuroblastoma amplified sequence umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 100306937 NBLST4 Neuroblastoma, susceptibility to, 4 umls:C0027819 Neuroblastoma 0.21 0 Biomarker CTD_human 100306938 NBLST5 Neuroblastoma, susceptibility to, 5 umls:C0027819 Neuroblastoma 0.21 0 Biomarker CTD_human 100306939 NBLST6 Neuroblastoma, susceptibility to, 6 umls:C0027819 Neuroblastoma 0.21 0 Biomarker CTD_human 4683 NBN nibrin umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4684 NCAM1 neural cell adhesion molecule 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 4684 NCAM1 neural cell adhesion molecule 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 64151 NCAPG non-SMC condensin I complex, subunit G umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 653361 NCF1 neutrophil cytosolic factor 1 umls:C0162871 Aortic Aneurysm, Abdominal 0.21 1 Biomarker CTD_human 653361 NCF1 neutrophil cytosolic factor 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 653361 NCF1 neutrophil cytosolic factor 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 2 Biomarker CTD_human 653361 NCF1 neutrophil cytosolic factor 1 umls:C0020443 Hypercholesterolemia 0.21 1 Biomarker CTD_human 653361 NCF1 neutrophil cytosolic factor 1 umls:C0007766 Intracranial Aneurysm 0.21 1 Biomarker CTD_human 653361 NCF1 neutrophil cytosolic factor 1 umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 4688 NCF2 neutrophil cytosolic factor 2 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 4688 NCF2 neutrophil cytosolic factor 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4689 NCF4 neutrophil cytosolic factor 4, 40kDa umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 4690 NCK1 NCK adaptor protein 1 umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 4690 NCK1 NCK adaptor protein 1 umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 4690 NCK1 NCK adaptor protein 1 umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 8440 NCK2 NCK adaptor protein 2 umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 8440 NCK2 NCK adaptor protein 2 umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 8440 NCK2 NCK adaptor protein 2 umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 3071 NCKAP1L NCK-associated protein 1-like umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4691 NCL nucleolin umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 8648 NCOA1 nuclear receptor coactivator 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 8648 NCOA1 nuclear receptor coactivator 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 8202 NCOA3 nuclear receptor coactivator 3 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 23054 NCOA6 nuclear receptor coactivator 6 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 9611 NCOR1 nuclear receptor corepressor 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 9611 NCOR1 nuclear receptor corepressor 1 umls:C0017636 Glioblastoma 0.21 1 Biomarker CTD_human 9611 NCOR1 nuclear receptor corepressor 1 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 4538 ND4 NADH dehydrogenase, subunit 4 (complex I) umls:C0029125 Optic Atrophies, Hereditary 0.21 2 Biomarker CTD_human 4541 ND6 NADH dehydrogenase, subunit 6 (complex I) umls:C0012655 Disease Susceptibility 0.21 1 Biomarker CTD_human 4541 ND6 NADH dehydrogenase, subunit 6 (complex I) umls:C0029125 Optic Atrophies, Hereditary 0.21 1 Biomarker CTD_human 55706 NDC1 NDC1 transmembrane nucleoporin umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55706 NDC1 NDC1 transmembrane nucleoporin umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 10403 NDC80 NDC80 kinetochore complex component umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 81866 NDIC Nail dysplasia, isolated congenital umls:C1853984 Nail dysplasia, isolated congenital 0.21 0 Biomarker CTD_human 4692 NDN necdin, melanoma antigen (MAGE) family member umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 79625 NDNF neuron-derived neurotrophic factor umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0004114 Astrocytoma 0.21 1 Biomarker CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0206734 Hemangioblastoma 0.21 1 Biomarker CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 10397 NDRG1 N-myc downstream regulated 1 umls:C0206658 Smooth Muscle Tumor 0.21 1 Biomarker CTD_human 57447 NDRG2 NDRG family member 2 umls:C0086543 Cataract 0.21 1 Biomarker CTD_human 57447 NDRG2 NDRG family member 2 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 57447 NDRG2 NDRG family member 2 umls:C0007787 Ischemic Attack, Transient 0.21 1 Biomarker CTD_human 3340 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 3340 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 3340 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 3340 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 umls:C1955869 Malformations of Cortical Development 0.21 1 Biomarker CTD_human 4695 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 4695 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 91942 NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 umls:C0752109 Brain Diseases, Metabolic, Inborn 0.21 1 Biomarker CTD_human 4714 NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 4714 NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 4715 NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 4719 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Biomarker CTD_human 4719 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 4719 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4720 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) umls:C0162666 Mitochondrial Encephalomyopathies 0.21 1 Biomarker CTD_human 4722 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 4722 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) umls:C0029124 Optic Atrophy 0.21 1 Biomarker CTD_human 4728 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 4723 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa umls:C0270726 Alexander Disease 0.21 0 Biomarker CTD_human 4723 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 4723 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 4723 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4729 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa umls:C0162666 Mitochondrial Encephalomyopathies 0.21 1 Biomarker CTD_human 4729 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 4734 NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 23327 NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 619410 NEDE nephropathy, progressive, with deafness umls:C1836119 Nephropathy, Progressive, with Deafness 0.21 0 Biomarker CTD_human 4744 NEFH neurofilament, heavy polypeptide umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4741 NEFM neurofilament, medium polypeptide umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 79661 NEIL1 nei endonuclease VIII-like 1 (E. coli) umls:C0242339 Dyslipidemias 0.21 1 Biomarker CTD_human 79661 NEIL1 nei endonuclease VIII-like 1 (E. coli) umls:C0015695 Fatty Liver 0.21 2 Biomarker CTD_human 79661 NEIL1 nei endonuclease VIII-like 1 (E. coli) umls:C0271650 Glucose Intolerance 0.21 1 Biomarker CTD_human 79661 NEIL1 nei endonuclease VIII-like 1 (E. coli) umls:C0020459 Hyperinsulinism 0.21 1 Biomarker CTD_human 79661 NEIL1 nei endonuclease VIII-like 1 (E. coli) umls:C0020473 Hyperlipidemias 0.21 1 Biomarker CTD_human 79661 NEIL1 nei endonuclease VIII-like 1 (E. coli) umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 55247 NEIL3 nei endonuclease VIII-like 3 (E. coli) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55247 NEIL3 nei endonuclease VIII-like 3 (E. coli) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4750 NEK1 NIMA-related kinase 1 umls:C1417671 NEVER IN MITOSIS GENE A-RELATED KINASE 1 0.21 0 Biomarker CTD_human 6787 NEK4 NIMA-related kinase 4 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6787 NEK4 NIMA-related kinase 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 140609 NEK7 NIMA-related kinase 7 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 284086 NEK8 NIMA-related kinase 8 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 10763 NES nestin umls:C0014549 Epilepsy, Tonic-Clonic 0.21 1 Biomarker CTD_human 81831 NETO2 neuropilin (NRP) and tolloid (TLL)-like 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 81831 NETO2 neuropilin (NRP) and tolloid (TLL)-like 2 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 4758 NEU1 sialidase 1 (lysosomal sialidase) umls:C0751778 Myoclonic Epilepsies, Progressive 0.21 1 Biomarker CTD_human 9148 NEURL1 neuralized E3 ubiquitin protein ligase 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 4760 NEUROD1 neuronal differentiation 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 4760 NEUROD1 neuronal differentiation 1 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 4763 NF1 neurofibromin 1 umls:C0016057 Fibrosarcoma 0.21 1 Biomarker CTD_human 4763 NF1 neurofibromin 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 4763 NF1 neurofibromin 1 umls:C0023827 Liposarcoma 0.21 1 Biomarker CTD_human 4771 NF2 neurofibromin 2 (merlin) umls:C1333989 Meningioma, familial 0.21 0 Biomarker CTD_human 4773 NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0008370 Cholestasis 0.21 1 Therapeutic CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0860207 Drug-Induced Liver Injury 0.21 3 Therapeutic CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Therapeutic CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0013990 Emphysema 0.21 1 Therapeutic CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0014072 Encephalomyelitis, Autoimmune, Experimental 0.21 1 Therapeutic CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0020507 Hyperplasia 0.21 1 Therapeutic CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0022593 Keratosis 0.21 1 Biomarker CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0027540 Necrosis 0.21 1 Therapeutic CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Therapeutic CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0033578 Prostatic Neoplasms 0.21 2 Biomarker CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 4780 NFE2L2 nuclear factor, erythroid 2-like 2 umls:C0178324 Vascular System Injuries 0.21 1 Therapeutic CTD_human 4782 NFIC nuclear factor I/C (CCAAT-binding transcription factor) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Therapeutic CTD_human 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0020500 Hyperoxaluria 0.21 1 Biomarker CTD_human 4790 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 4791 NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 4792 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 4792 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 4792 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 4800 NFYA nuclear transcription factor Y, alpha umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 58157 NGB neuroglobin umls:C0751870 Heredodegenerative Disorders, Nervous System 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0002622 Amnesia 0.21 2 Therapeutic CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0085129 Bronchial Hyperreactivity 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0010043 Corneal Ulcer 0.21 1 Therapeutic CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0014549 Epilepsy, Tonic-Clonic 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0273115 Lung Injury 0.21 1 Therapeutic CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0027707 Nephritis, Interstitial 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0027765 Nervous System Diseases 0.21 1 Therapeutic CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0525041 Neurobehavioral Manifestations 0.21 1 Therapeutic CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0524851 Neurodegenerative Diseases 0.21 1 Therapeutic CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0600467 Neurogenic Inflammation 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0242422 Parkinsonian Disorders 0.21 1 Therapeutic CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0403447 Renal Insufficiency, Chronic 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0037299 Skin Ulcer 0.21 1 Therapeutic CTD_human 4803 NGF nerve growth factor (beta polypeptide) umls:C0038220 Status Epilepticus 0.21 2 Biomarker CTD_human 4804 NGFR nerve growth factor receptor umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 4804 NGFR nerve growth factor receptor umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 4804 NGFR nerve growth factor receptor umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 4810 NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) umls:C2930878 Cataract, congenital, with microcornea or slight microphthalmia 0.21 0 Biomarker CTD_human 4811 NID1 nidogen 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4811 NID1 nidogen 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 4812 NIDDM1 non-insulin-dependent diabetes mellitus (common, type 2) 1 umls:C1832544 Diabetes Mellitus, Noninsulin-Dependent, 1 0.21 0 Biomarker CTD_human 4813 NIDDM2 non-insulin-dependent diabetes mellitus (common, type 2) 2 umls:C1832387 Diabetes Mellitus, Noninsulin-Dependent, 2 0.21 0 Biomarker CTD_human 50982 NIDDM3 Noninsulin-dependent diabetes mellitus 3 umls:C1863594 Diabetes Mellitus, Noninsulin-Dependent, 3 0.21 0 Biomarker CTD_human 50982 NIDDM3 Noninsulin-dependent diabetes mellitus 3 umls:C0011860 Diabetes Mellitus, Type 2 0.21 0 Biomarker CTD_human 100188782 NIDDM4 Diabetes mellitus, noninsulin-dependent umls:C1842642 Diabetes Mellitus, Noninsulin-Dependent, Type 4 0.21 0 Biomarker CTD_human 4814 NINJ1 ninjurin 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 57185 NIPAL3 NIPA-like domain containing 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 25836 NIPBL Nipped-B homolog (Drosophila) umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 25836 NIPBL Nipped-B homolog (Drosophila) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 25836 NIPBL Nipped-B homolog (Drosophila) umls:C0260662 Hearing Disorders 0.21 1 Biomarker CTD_human 25836 NIPBL Nipped-B homolog (Drosophila) umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 11188 NISCH nischarin umls:C0428977 Bradycardia 0.21 1 Biomarker CTD_human 11188 NISCH nischarin umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 780917 NKCD Natural killer cell deficiency, familial isolated umls:C1864947 Natural Killer Cell Deficiency, Familial Isolated 0.21 0 Biomarker CTD_human 1482 NKX2-5 NK2 homeobox 5 umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 1482 NKX2-5 NK2 homeobox 5 umls:C0027126 Myotonic Dystrophy 0.21 1 Biomarker CTD_human 4825 NKX6-1 NK6 homeobox 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 57502 NLGN4X neuroligin 4, X-linked umls:C1845539 AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 0.21 0 Biomarker CTD_human 57502 NLGN4X neuroligin 4, X-linked umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 58484 NLRC4 NLR family, CARD domain containing 4 umls:C0751422 Hereditary Autoinflammatory Diseases 0.21 2 Biomarker CTD_human 91662 NLRP12 NLR family, pyrin domain containing 12 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 114548 NLRP3 NLR family, pyrin domain containing 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4827 NM neutrophil migration umls:C0312860 Neutrophil Chemotactic Response 0.21 0 Biomarker CTD_human 4829 NMBR neuromedin B receptor umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 4830 NME1 NME/NM23 nucleoside diphosphate kinase 1 umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 4830 NME1 NME/NM23 nucleoside diphosphate kinase 1 umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Biomarker CTD_human 4830 NME1 NME/NM23 nucleoside diphosphate kinase 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 4831 NME2 NME/NM23 nucleoside diphosphate kinase 2 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 4831 NME2 NME/NM23 nucleoside diphosphate kinase 2 umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 4831 NME2 NME/NM23 nucleoside diphosphate kinase 2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 29922 NME7 NME/NM23 family member 7 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 64802 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 umls:C1852767 Hereditary macular coloboma 0.21 1 Biomarker CTD_human 64802 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 umls:C0242383 Macular Degeneration 0.21 1 Biomarker CTD_human 349565 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 59333 NMSR Neuropathy, hereditary motor and sensory, Russe type umls:C1854449 Neuropathy, hereditary motor and sensory, Russe type 0.21 0 Biomarker CTD_human 9397 NMT2 N-myristoyltransferase 2 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 10874 NMU neuromedin U umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 100187717 NNO3 nanophthalmos 3 umls:C2678467 Nanophthalmos 3 0.21 0 Biomarker CTD_human 23530 NNT nicotinamide nucleotide transhydrogenase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10392 NOD1 nucleotide-binding oligomerization domain containing 1 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 64127 NOD2 nucleotide-binding oligomerization domain containing 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8996 NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) umls:C0751651 Mitochondrial Diseases 0.21 1 Therapeutic CTD_human 64434 NOM1 nucleolar protein with MIF4G domain 1 umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.21 1 Biomarker CTD_human 51491 NOP16 NOP16 nucleolar protein umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 51491 NOP16 NOP16 nucleolar protein umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 10528 NOP56 NOP56 ribonucleoprotein umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 10528 NOP56 NOP56 ribonucleoprotein umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 161424 NOP9 NOP9 nucleolar protein umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0015967 Fever 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0021845 Intestinal Perforation 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0026552 Morphine Dependence 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0027746 Nerve Degeneration 0.21 2 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0034531 Radiation Injuries, Experimental 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0751792 Trauma, Nervous System 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0042035 Urination Disorders 0.21 1 Biomarker CTD_human 4842 NOS1 nitric oxide synthase 1 (neuronal) umls:C0600519 Ventricular Remodeling 0.21 1 Biomarker CTD_human 9722 NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein umls:C1857828 QT INTERVAL, VARIATION IN 0.21 0 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C1527311 Brain Edema 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0006261 Bronchial Diseases 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0006434 Burns 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0243050 Cardiovascular Abnormalities 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0008313 Cholangitis, Sclerosing 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0008370 Cholestasis 0.21 3 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0009375 Colonic Neoplasms 0.21 2 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0013295 Duodenal Ulcer 0.21 2 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0013990 Emphysema 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0020429 Hyperalgesia 0.21 2 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0020452 Hyperemia 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0021831 Intestinal Diseases 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0024121 Lung Neoplasms 0.21 2 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0677050 Manganese Poisoning 0.21 2 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0751651 Mitochondrial Diseases 0.21 1 Therapeutic CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0026936 Mycoplasma Infections 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0206146 Myocardial Stunning 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0027540 Necrosis 0.21 2 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C1855456 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL 0.21 0 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0032290 Pneumonia, Aspiration 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0036330 Schistosomiasis mansoni 0.21 1 Therapeutic CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0038325 Stevens-Johnson Syndrome 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 4843 NOS2 nitric oxide synthase 2, inducible umls:C0042029 Urinary Tract Infections 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0021845 Intestinal Perforation 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0038358 Stomach Ulcer 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0042514 Tachycardia, Ventricular 0.21 1 Therapeutic CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C0151636 Ventricular Premature Complexes 0.21 1 Therapeutic CTD_human 4851 NOTCH1 notch 1 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 4851 NOTCH1 notch 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 4851 NOTCH1 notch 1 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 4851 NOTCH1 notch 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 4851 NOTCH1 notch 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 4851 NOTCH1 notch 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 4851 NOTCH1 notch 1 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 4851 NOTCH1 notch 1 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 4851 NOTCH1 notch 1 umls:C0036439 Scoliosis 0.21 1 Biomarker CTD_human 4851 NOTCH1 notch 1 umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 4853 NOTCH2 notch 2 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 4853 NOTCH2 notch 2 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 4853 NOTCH2 notch 2 umls:C0206663 Neuroectodermal Tumors, Primitive 0.21 1 Biomarker CTD_human 4853 NOTCH2 notch 2 umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 4854 NOTCH3 notch 3 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 4854 NOTCH3 notch 3 umls:C0017636 Glioblastoma 0.21 1 Biomarker CTD_human 4855 NOTCH4 notch 4 umls:C0887833 Carcinoma, Pancreatic Ductal 0.21 1 Biomarker CTD_human 27035 NOX1 NADPH oxidase 1 umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 27035 NOX1 NADPH oxidase 1 umls:C0020443 Hypercholesterolemia 0.21 1 Biomarker CTD_human 50507 NOX4 NADPH oxidase 4 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 23742 NPAP1 nuclear pore associated protein 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 256933 NPB neuropeptide B umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 4864 NPC1 Niemann-Pick disease, type C1 umls:C0004153 Atherosclerosis 0.21 1 Therapeutic CTD_human 4864 NPC1 Niemann-Pick disease, type C1 umls:C0013362 Dysarthria 0.21 1 Biomarker CTD_human 4864 NPC1 Niemann-Pick disease, type C1 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 4864 NPC1 Niemann-Pick disease, type C1 umls:C0029089 Ophthalmoplegia 0.21 1 Biomarker CTD_human 10577 NPC2 Niemann-Pick disease, type C2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 100312951 NPCA2 Nasopharyngeal carcinoma, susceptibility to, 2 umls:C2931822 Nasopharyngeal carcinoma 0.21 0 Biomarker CTD_human 27031 NPHP3 nephronophthisis 3 (adolescent) umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 27031 NPHP3 nephronophthisis 3 (adolescent) umls:C0085548 Polycystic Kidney, Autosomal Recessive 0.21 1 Biomarker CTD_human 27031 NPHP3 nephronophthisis 3 (adolescent) umls:C2673885 Renal hepatic pancreatic dysplasia Dandy Walker cyst 0.21 0 Biomarker CTD_human 4868 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 4868 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) umls:C0017658 Glomerulonephritis 0.21 2 Biomarker CTD_human 4868 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) umls:C0598608 Hyperhomocysteinemia 0.21 1 Biomarker CTD_human 80896 NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4878 NPPA natriuretic peptide A umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 4878 NPPA natriuretic peptide A umls:C2677294 Atrial Fibrillation, Familial, 6 0.21 0 Biomarker CTD_human 4878 NPPA natriuretic peptide A umls:C0262584 Carcinoma, Small Cell 0.21 1 Therapeutic CTD_human 4878 NPPA natriuretic peptide A umls:C0242231 Coronary Stenosis 0.21 1 Biomarker CTD_human 4878 NPPA natriuretic peptide A umls:C0013274 Ductus Arteriosus, Patent 0.21 1 Biomarker CTD_human 4878 NPPA natriuretic peptide A umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 4878 NPPA natriuretic peptide A umls:C0020440 Hypercapnia 0.21 1 Biomarker CTD_human 4878 NPPA natriuretic peptide A umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 4878 NPPA natriuretic peptide A umls:C0024121 Lung Neoplasms 0.21 1 Therapeutic CTD_human 4878 NPPA natriuretic peptide A umls:C0025202 Melanoma 0.21 1 Therapeutic CTD_human 4878 NPPA natriuretic peptide A umls:C0027627 Neoplasm Metastasis 0.21 1 Therapeutic CTD_human 4878 NPPA natriuretic peptide A umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 4878 NPPA natriuretic peptide A umls:C0033578 Prostatic Neoplasms 0.21 1 Therapeutic CTD_human 4878 NPPA natriuretic peptide A umls:C0037286 Skin Neoplasms 0.21 1 Therapeutic CTD_human 4878 NPPA natriuretic peptide A umls:C0042035 Urination Disorders 0.21 1 Biomarker CTD_human 4879 NPPB natriuretic peptide B umls:C0002895 Anemia, Sickle Cell 0.21 1 Biomarker CTD_human 4879 NPPB natriuretic peptide B umls:C0085128 Cardiac Output, High 0.21 1 Biomarker CTD_human 4879 NPPB natriuretic peptide B umls:C2937358 Cerebral Hemorrhage 0.21 1 Therapeutic CTD_human 4879 NPPB natriuretic peptide B umls:C0020621 Hypokalemia 0.21 1 Biomarker CTD_human 4879 NPPB natriuretic peptide B umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 4879 NPPB natriuretic peptide B umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 4879 NPPB natriuretic peptide B umls:C0032787 Postoperative Complications 0.21 1 Biomarker CTD_human 4879 NPPB natriuretic peptide B umls:C0042514 Tachycardia, Ventricular 0.21 1 Biomarker CTD_human 4880 NPPC natriuretic peptide C umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 4880 NPPC natriuretic peptide C umls:C0007302 Cartilage Diseases 0.21 1 Biomarker CTD_human 4880 NPPC natriuretic peptide C umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 4880 NPPC natriuretic peptide C umls:C0424295 Hyperkinesis 0.21 1 Therapeutic CTD_human 4881 NPR1 natriuretic peptide receptor 1 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 4881 NPR1 natriuretic peptide receptor 1 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 4881 NPR1 natriuretic peptide receptor 1 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 4883 NPR3 natriuretic peptide receptor 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4883 NPR3 natriuretic peptide receptor 3 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 10641 NPRL2 nitrogen permease regulator-like 2 (S. cerevisiae) umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 594857 NPS neuropeptide S umls:C0236736 Cocaine-Related Disorders 0.21 3 Biomarker CTD_human 594857 NPS neuropeptide S umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 387129 NPSR1 neuropeptide S receptor 1 umls:C1837811 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 0.21 0 Biomarker CTD_human 27020 NPTN neuroplastin umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 27020 NPTN neuroplastin umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 4885 NPTX2 neuronal pentraxin II umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 4852 NPY neuropeptide Y umls:C0002395 Alzheimer Disease 0.21 1 Biomarker CTD_human 4852 NPY neuropeptide Y umls:C0008677 Bronchitis, Chronic 0.21 1 Biomarker CTD_human 4852 NPY neuropeptide Y umls:C0007785 Cerebral Infarction 0.21 1 Biomarker CTD_human 4852 NPY neuropeptide Y umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 4852 NPY neuropeptide Y umls:C0020564 Hypertrophy 0.21 1 Biomarker CTD_human 4852 NPY neuropeptide Y umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 4852 NPY neuropeptide Y umls:C0026837 Muscle Rigidity 0.21 1 Therapeutic CTD_human 4852 NPY neuropeptide Y umls:C0027429 Nasal Obstruction 0.21 1 Therapeutic CTD_human 4852 NPY neuropeptide Y umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 4852 NPY neuropeptide Y umls:C0035455 Rhinitis 0.21 1 Biomarker CTD_human 4852 NPY neuropeptide Y umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 4886 NPY1R neuropeptide Y receptor Y1 umls:C0003469 Anxiety Disorders 0.21 1 Therapeutic CTD_human 4886 NPY1R neuropeptide Y receptor Y1 umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 4886 NPY1R neuropeptide Y receptor Y1 umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 4886 NPY1R neuropeptide Y receptor Y1 umls:C0040460 Toothache 0.21 1 Therapeutic CTD_human 4887 NPY2R neuropeptide Y receptor Y2 umls:C0014544 Epilepsy 0.21 1 Therapeutic CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Therapeutic CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0019061 Hemolytic-Uremic Syndrome 0.21 1 Biomarker CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0020456 Hyperglycemia 0.21 1 Therapeutic CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0022658 Kidney Diseases 0.21 1 Therapeutic CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0023895 Liver Diseases 0.21 2 Biomarker CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0027659 Neoplasms, Experimental 0.21 2 Biomarker, Therapeutic CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Therapeutic CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C0030354 Papilloma 0.21 1 Biomarker CTD_human 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C1846707 Spinocerebellar Ataxia 17 0.21 1 Biomarker CTD_human 4835 NQO2 NAD(P)H dehydrogenase, quinone 2 umls:C0005956 Bone Marrow Diseases 0.21 1 Biomarker CTD_human 4835 NQO2 NAD(P)H dehydrogenase, quinone 2 umls:C1458155 Breast Neoplasms 0.21 0 Biomarker CTD_human 4835 NQO2 NAD(P)H dehydrogenase, quinone 2 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 8431 NR0B2 nuclear receptor subfamily 0, group B, member 2 umls:C0023794 Lipidoses 0.21 3 Biomarker CTD_human 8431 NR0B2 nuclear receptor subfamily 0, group B, member 2 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 9975 NR1D2 nuclear receptor subfamily 1, group D, member 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 7376 NR1H2 nuclear receptor subfamily 1, group H, member 2 umls:C0008370 Cholestasis 0.21 1 Therapeutic CTD_human 10062 NR1H3 nuclear receptor subfamily 1, group H, member 3 umls:C0008370 Cholestasis 0.21 1 Therapeutic CTD_human 10062 NR1H3 nuclear receptor subfamily 1, group H, member 3 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 9971 NR1H4 nuclear receptor subfamily 1, group H, member 4 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 9971 NR1H4 nuclear receptor subfamily 1, group H, member 4 umls:C0015379 Extravasation of Diagnostic and Therapeutic Materials 0.21 1 Biomarker CTD_human 9971 NR1H4 nuclear receptor subfamily 1, group H, member 4 umls:C0021841 Intestinal Neoplasms 0.21 1 Biomarker CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0019209 Hepatomegaly 0.21 1 Biomarker CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0085682 Hypophosphatemia 0.21 1 Biomarker CTD_human 8856 NR1I2 nuclear receptor subfamily 1, group I, member 2 umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 9970 NR1I3 nuclear receptor subfamily 1, group I, member 3 umls:C0011849 Diabetes Mellitus 0.21 1 Biomarker CTD_human 9970 NR1I3 nuclear receptor subfamily 1, group I, member 3 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 9970 NR1I3 nuclear receptor subfamily 1, group I, member 3 umls:C0019209 Hepatomegaly 0.21 2 Biomarker CTD_human 9970 NR1I3 nuclear receptor subfamily 1, group I, member 3 umls:C0023904 Liver Neoplasms, Experimental 0.21 2 Biomarker CTD_human 9970 NR1I3 nuclear receptor subfamily 1, group I, member 3 umls:C0524620 Metabolic Syndrome X 0.21 1 Biomarker CTD_human 9970 NR1I3 nuclear receptor subfamily 1, group I, member 3 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 7181 NR2C1 nuclear receptor subfamily 2, group C, member 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 7182 NR2C2 nuclear receptor subfamily 2, group C, member 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 7025 NR2F1 nuclear receptor subfamily 2, group F, member 1 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 7026 NR2F2 nuclear receptor subfamily 2, group F, member 2 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 7026 NR2F2 nuclear receptor subfamily 2, group F, member 2 umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 2063 NR2F6 nuclear receptor subfamily 2, group F, member 6 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 2063 NR2F6 nuclear receptor subfamily 2, group F, member 6 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C2936403 46, XX Disorders of Sex Development 0.21 1 Biomarker CTD_human 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker CTD_human 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C0020621 Hypokalemia 0.21 1 Biomarker CTD_human 4306 NR3C2 nuclear receptor subfamily 3, group C, member 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 4306 NR3C2 nuclear receptor subfamily 3, group C, member 2 umls:C0242698 Ventricular Dysfunction, Left 0.21 1 Biomarker CTD_human 3164 NR4A1 nuclear receptor subfamily 4, group A, member 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 3164 NR4A1 nuclear receptor subfamily 4, group A, member 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 4929 NR4A2 nuclear receptor subfamily 4, group A, member 2 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 4929 NR4A2 nuclear receptor subfamily 4, group A, member 2 umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 4929 NR4A2 nuclear receptor subfamily 4, group A, member 2 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 2494 NR5A2 nuclear receptor subfamily 5, group A, member 2 umls:C0003128 Anovulation 0.21 1 Biomarker CTD_human 2494 NR5A2 nuclear receptor subfamily 5, group A, member 2 umls:C0021361 Infertility, Female 0.21 1 Biomarker CTD_human 441478 NRARP NOTCH-regulated ankyrin repeat protein umls:C0006118 Brain Neoplasms 0.21 1 Biomarker CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 0.21 1 Biomarker CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0034885 Rectal Neoplasms 0.21 1 Biomarker CTD_human 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C2931367 Thyroid cancer, follicular 0.21 1 Biomarker CTD_human 4897 NRCAM neuronal cell adhesion molecule umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 4897 NRCAM neuronal cell adhesion molecule umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 4897 NRCAM neuronal cell adhesion molecule umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 100918 NRCLP2 Narcolepsy, HLA-associated umls:C0027404 Narcolepsy 0.21 0 Biomarker CTD_human 100918 NRCLP2 Narcolepsy, HLA-associated umls:C1834372 Narcolepsy 1 0.21 0 Biomarker CTD_human 494446 NRCLP3 Narcolepsy 3 umls:C0027404 Narcolepsy 0.21 0 Biomarker CTD_human 100216484 NRCLP4 Narcolepsy 4 umls:C0027404 Narcolepsy 0.21 0 Biomarker CTD_human 100302514 NRCLP5 Narcolepsy 5 umls:C0027404 Narcolepsy 0.21 0 Biomarker CTD_human 4899 NRF1 nuclear respiratory factor 1 umls:C0006079 Bowen's Disease 0.21 1 Biomarker CTD_human 3084 NRG1 neuregulin 1 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 3084 NRG1 neuregulin 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3084 NRG1 neuregulin 1 umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 3084 NRG1 neuregulin 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 3084 NRG1 neuregulin 1 umls:C0030193 Pain 0.21 1 Biomarker CTD_human 3084 NRG1 neuregulin 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 3084 NRG1 neuregulin 1 umls:C0038358 Stomach Ulcer 0.21 1 Biomarker CTD_human 8204 NRIP1 nuclear receptor interacting protein 1 umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 8204 NRIP1 nuclear receptor interacting protein 1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 4901 NRL neural retina leucine zipper umls:C0028077 Night Blindness 0.21 2 Biomarker CTD_human 8829 NRP1 neuropilin 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 8829 NRP1 neuropilin 1 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 8829 NRP1 neuropilin 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8828 NRP2 neuropilin 2 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 9378 NRXN1 neurexin 1 umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 9378 NRXN1 neurexin 1 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 9378 NRXN1 neurexin 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 9379 NRXN2 neurexin 2 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 9369 NRXN3 neurexin 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 57762 NS2 Noonan syndrome 2 umls:C1854469 Noonan Syndrome 2 0.21 0 Biomarker CTD_human 10412 NSA2 NSA2 ribosome biogenesis homolog (S. cerevisiae) umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 64324 NSD1 nuclear receptor binding SET domain protein 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 26012 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 26012 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor umls:C0342384 Idiopathic Hypogonadotropic Hypogonadism 0.21 0 Biomarker CTD_human 26012 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 26012 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 79730 NSUN7 NOP2/Sun domain family, member 7 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 30833 NT5C 5', 3'-nucleotidase, cytosolic umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 22978 NT5C2 5'-nucleotidase, cytosolic II umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 51251 NT5C3A 5'-nucleotidase, cytosolic IIIA umls:C0002882 Anemia, Hemolytic, Congenital Nonspherocytic 0.21 1 Biomarker CTD_human 51251 NT5C3A 5'-nucleotidase, cytosolic IIIA umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 221294 NT5DC1 5'-nucleotidase domain containing 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 4907 NT5E 5'-nucleotidase, ecto (CD73) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 4907 NT5E 5'-nucleotidase, ecto (CD73) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 4908 NTF3 neurotrophin 3 umls:C0013080 Down Syndrome 0.21 1 Biomarker CTD_human 4908 NTF3 neurotrophin 3 umls:C0014549 Epilepsy, Tonic-Clonic 0.21 1 Biomarker CTD_human 4908 NTF3 neurotrophin 3 umls:C1384666 Hearing Loss 0.21 1 Therapeutic CTD_human 4908 NTF3 neurotrophin 3 umls:C0020429 Hyperalgesia 0.21 1 Therapeutic CTD_human 4908 NTF3 neurotrophin 3 umls:C0027746 Nerve Degeneration 0.21 2 Therapeutic CTD_human 4908 NTF3 neurotrophin 3 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 4909 NTF4 neurotrophin 4 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 22854 NTNG1 netrin G1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0005586 Bipolar Disorder 0.21 1 Biomarker CTD_human 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0273115 Lung Injury 0.21 1 Therapeutic CTD_human 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0027796 Neuralgia 0.21 1 Biomarker CTD_human 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 umls:C0033975 Psychotic Disorders 0.21 1 Biomarker CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0004114 Astrocytoma 0.21 1 Biomarker CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0017638 Glioma 0.21 1 Biomarker CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0424295 Hyperkinesis 0.21 2 Biomarker CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 4915 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 umls:C0038220 Status Epilepticus 0.21 2 Biomarker CTD_human 4916 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 4916 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 umls:C0017638 Glioma 0.21 1 Biomarker CTD_human 4916 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 4922 NTS neurotensin umls:C0428977 Bradycardia 0.21 1 Therapeutic CTD_human 4922 NTS neurotensin umls:C0007370 Catalepsy 0.21 1 Therapeutic CTD_human 4922 NTS neurotensin umls:C0424295 Hyperkinesis 0.21 2 Therapeutic CTD_human 4922 NTS neurotensin umls:C0026837 Muscle Rigidity 0.21 1 Therapeutic CTD_human 4923 NTSR1 neurotensin receptor 1 (high affinity) umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 4923 NTSR1 neurotensin receptor 1 (high affinity) umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 4925 NUCB2 nucleobindin 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 23386 NUDCD3 NudC domain containing 3 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 318 NUDT2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 283927 NUDT7 nudix (nucleoside diphosphate linked moiety X)-type motif 7 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 4926 NUMA1 nuclear mitotic apparatus protein 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 4927 NUP88 nucleoporin 88kDa umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 26471 NUPR1 nuclear protein, transcriptional regulator, 1 umls:C0023794 Lipidoses 0.21 1 Biomarker CTD_human 26471 NUPR1 nuclear protein, transcriptional regulator, 1 umls:C0030305 Pancreatitis 0.21 1 Biomarker CTD_human 116150 NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 51203 NUSAP1 nucleolar and spindle associated protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10204 NUTF2 nuclear transport factor 2 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 64359 NXN nucleoredoxin umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 11249 NXPH2 neurexophilin 2 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 55916 NXT2 nuclear transport factor 2-like export factor 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4933 NYS2 nystagmus 2, congenital autosomal dominant umls:C1834079 Nystagmus 2, congenital, autosomal dominant 0.21 0 Biomarker CTD_human 4934 NYS3 nystagmus 3, congenital autosomal dominant umls:C1842186 Nystagmus 3, congenital, autosomal dominant 0.21 0 Biomarker CTD_human 317685 NYS4 nystagmus 4, congenital autosomal dominant umls:C1860433 Nystagmus 4, congenital, autosomal dominant 0.21 0 Biomarker CTD_human 780901 NYS5 Nystagmus 5, infantile periodic alternating umls:C1845116 Nystagmus 5, Infantile Periodic Alternating 0.21 0 Biomarker CTD_human 4938 OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 4939 OAS2 2'-5'-oligoadenylate synthetase 2, 69/71kDa umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 4940 OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 4941 OASD ocular albinism and sensorineural deafness umls:C1845069 Albinism ocular late onset sensorineural deafness 0.21 0 Biomarker CTD_human 8638 OASL 2'-5'-oligoadenylate synthetase-like umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 4942 OAT ornithine aminotransferase umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 79991 OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 umls:C1800706 Idiopathic Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 729330 OC90 otoconin 90 umls:C0042594 Vestibular Diseases 0.21 1 Biomarker CTD_human 100506658 OCLN occludin umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 100506658 OCLN occludin umls:C0019156 Hepatic Veno-Occlusive Disease 0.21 1 Biomarker CTD_human 100506658 OCLN occludin umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 100506658 OCLN occludin umls:C0035309 Retinal Diseases 0.21 1 Biomarker CTD_human 100506658 OCLN occludin umls:C0038002 Splenomegaly 0.21 1 Biomarker CTD_human 440836 ODF3B outer dense fiber of sperm tails 3B umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 54114 ODPF Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula umls:C1846129 Terminal Osseous Dysplasia and Pigmentary Defects 0.21 0 Biomarker CTD_human 100188802 ODS1 Opioid dependence, susceptibility to, 1 umls:C0027412 Opioid-Related Disorders 0.21 0 Biomarker CTD_human 100302515 OFC12 Orofacial cleft 12 umls:C2748505 Orofacial Cleft 12 0.21 0 Biomarker CTD_human 4964 OFC2 orofacial cleft 2 umls:C1864323 Orofacial Cleft 2 0.21 0 Biomarker CTD_human 4965 OFC3 orofacial cleft 3 umls:C1833369 Orofacial Cleft 3 0.21 0 Biomarker CTD_human 474387 OFC4 Orofacial cleft 4 umls:C1842143 Orofacial Cleft 4 0.21 0 Biomarker CTD_human 100462724 OFC9 Orofacial cleft 9 umls:C1835894 Orofacial Cleft 9 0.21 0 Biomarker CTD_human 8481 OFD1 oral-facial-digital syndrome 1 umls:C0265251 Oto-Palato-digital syndrome type 1 0.21 1 Biomarker CTD_human 4967 OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) umls:C2752074 Alpha-ketoglutarate dehydrogenase deficiency 0.21 0 Biomarker CTD_human 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0018799 Heart Diseases 0.21 1 Therapeutic CTD_human 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0026613 Motor Skills Disorders 0.21 1 Biomarker CTD_human 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0033054 Prenatal Exposure Delayed Effects 0.21 1 Biomarker CTD_human 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0086468 Prenatal Injuries 0.21 1 Biomarker CTD_human 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 8221 OGS2 Opitz G syndrome, type II umls:C1801950 Hypertelorism with esophageal abnormality and hypospadias 0.21 0 Biomarker CTD_human 50948 OHDS Orthostatic hypotensive disorder of Streeten umls:C1840438 Orthostatic Hypotensive Disorder, Streeten Type 0.21 0 Biomarker CTD_human 11339 OIP5 Opa interacting protein 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10439 OLFM1 olfactomedin 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4973 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 4973 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4973 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 619538 OMS otitis media, susceptibility to umls:C0029882 Otitis Media 0.21 0 Biomarker CTD_human 4976 OPA1 optic atrophy 1 (autosomal dominant) umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 58156 OPA4 optic atrophy 4 (autosomal dominant) umls:C1854430 Optic Atrophy 4 0.21 0 Biomarker CTD_human 692222 OPA5 optic atrophy 5 (autosomal dominant) umls:C1853139 Optic atrophy 5 0.21 0 Biomarker CTD_human 777778 OPA6 optic atrophy 6 (autosomal recessive) umls:C1850281 Optic atrophy 6 0.21 0 Biomarker CTD_human 4978 OPCML opioid binding protein/cell adhesion molecule-like umls:C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 4981 OPEM ophthalmoplegia, external, with myopia umls:C1839577 Ophthalmoplegia, External, and Myopia 0.21 0 Biomarker CTD_human 7933 OPLL ossification of posterior longitudinal ligament of spine umls:C1865343 Ossification of the posterior longitudinal ligament of the spine 0.21 0 Biomarker CTD_human 4985 OPRD1 opioid receptor, delta 1 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 4985 OPRD1 opioid receptor, delta 1 umls:C0020651 Hypotension, Orthostatic 0.21 1 Biomarker CTD_human 4985 OPRD1 opioid receptor, delta 1 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 4986 OPRK1 opioid receptor, kappa 1 umls:C0003811 Arrhythmias, Cardiac 0.21 1 Therapeutic CTD_human 4986 OPRK1 opioid receptor, kappa 1 umls:C0036572 Seizures 0.21 2 Biomarker, Therapeutic CTD_human 4987 OPRL1 opiate receptor-like 1 umls:C0003811 Arrhythmias, Cardiac 0.21 1 Therapeutic CTD_human 4987 OPRL1 opiate receptor-like 1 umls:C0086439 Hypokinesia 0.21 1 Biomarker CTD_human 4987 OPRL1 opiate receptor-like 1 umls:C0026552 Morphine Dependence 0.21 1 Biomarker CTD_human 4987 OPRL1 opiate receptor-like 1 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0236736 Cocaine-Related Disorders 0.21 3 Biomarker CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0019151 Hepatic Encephalopathy 0.21 1 Biomarker CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0019196 Hepatitis C 0.21 2 Biomarker CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0020651 Hypotension, Orthostatic 0.21 1 Biomarker CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0026552 Morphine Dependence 0.21 1 Biomarker CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 4988 OPRM1 opioid receptor, mu 1 umls:C0036572 Seizures 0.21 2 Biomarker CTD_human 10133 OPTN optineurin umls:C1847730 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 283092 OR4C13 olfactory receptor, family 4, subfamily C, member 13 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 119749 OR4C46 olfactory receptor, family 4, subfamily C, member 46 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 143503 OR51E1 olfactory receptor, family 51, subfamily E, member 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 4998 ORC1 origin recognition complex, subunit 1 umls:C0015934 Fetal Growth Retardation 0.21 1 Biomarker CTD_human 23594 ORC6 origin recognition complex, subunit 6 umls:C1868684 Meier-Gorlin syndrome 0.21 1 Biomarker CTD_human 5004 ORM1 orosomucoid 1 umls:C0085605 Liver Failure 0.21 1 Therapeutic CTD_human 100188821 OS4 Osteoarthritis, generalized, without dysplasia, susceptibility to umls:C0029408 Osteoarthritis 0.21 0 Biomarker CTD_human 100286836 OS6 Osteoarthritis susceptibility 6 umls:C0029408 Osteoarthritis 0.21 0 Biomarker CTD_human 114885 OSBPL11 oxysterol binding protein-like 11 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 26031 OSBPL3 oxysterol binding protein-like 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 114880 OSBPL6 oxysterol binding protein-like 6 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 114882 OSBPL8 oxysterol binding protein-like 8 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 55644 OSGEP O-sialoglycoprotein endopeptidase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5008 OSM oncostatin M umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 5008 OSM oncostatin M umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 9180 OSMR oncostatin M receptor umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 9180 OSMR oncostatin M receptor umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 116039 OSR2 odd-skipped related transciption factor 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 28962 OSTM1 osteopetrosis associated transmembrane protein 1 umls:C1850127 Osteopetrosis, Autosomal Recessive 1 0.21 0 Biomarker CTD_human 5009 OTC ornithine carbamoyltransferase umls:C0376618 Endotoxemia 0.21 1 Biomarker CTD_human 340990 OTOG otogelin umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 93999 OTSC2 otosclerosis 2 umls:C1854022 Otosclerosis 2 0.21 0 Biomarker CTD_human 170532 OTSC3 otosclerosis 3 umls:C1842353 Otosclerosis 3 0.21 0 Biomarker CTD_human 286751 OTSC4 otosclerosis 4 umls:C1969046 Otosclerosis 4 0.21 0 Biomarker CTD_human 317682 OTSC5 otosclerosis 5 umls:C1837422 Otosclerosis 5 0.21 0 Biomarker CTD_human 399516 OTSC7 otosclerosis 7 umls:C1969044 Otosclerosis 7 0.21 0 Biomarker CTD_human 100151644 OTSC8 otosclerosis 8 umls:C2677515 Otosclerosis 8 0.21 0 Biomarker CTD_human 5015 OTX2 orthodenticle homeobox 2 umls:C0022360 Jaw Abnormalities 0.21 1 Biomarker CTD_human 5015 OTX2 orthodenticle homeobox 2 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 574048 OVCAS1 Ovarian cancer, epithelial, susceptibility to umls:C0919267 Ovarian Neoplasms 0.21 0 Biomarker CTD_human 5019 OXCT1 3-oxoacid CoA transferase 1 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 9943 OXSR1 oxidative stress responsive 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0009375 Colonic Neoplasms 0.21 1 Therapeutic CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0009421 Coma 0.21 3 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0012739 Disseminated Intravascular Coagulation 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0013390 Dysmenorrhea 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0013604 Edema 0.21 2 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0014549 Epilepsy, Tonic-Clonic 0.21 2 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0015927 Fetal Death 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0015930 Fetal Distress 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0016382 Flushing 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0018681 Headache 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0424295 Hyperkinesis 0.21 1 Therapeutic CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0020625 Hyponatremia 0.21 3 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0022116 Ischemia 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Therapeutic CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0026826 Muscle Hypertonia 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0032617 Polyuria 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0033575 Prostatic Diseases 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0036572 Seizures 0.21 6 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0037763 Spasm 0.21 4 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0039338 Taste Disorders 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0043049 Water Intoxication 0.21 8 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 5020 OXT oxytocin/neurophysin I prepropeptide umls:C0043096 Weight Loss 0.21 1 Biomarker CTD_human 5021 OXTR oxytocin receptor umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 5021 OXTR oxytocin receptor umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 5021 OXTR oxytocin receptor umls:C2931337 Chromosome 3, monosomy 3p25 0.21 1 Biomarker CTD_human 5021 OXTR oxytocin receptor umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 5023 P2RX1 purinergic receptor P2X, ligand gated ion channel, 1 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 22953 P2RX2 purinergic receptor P2X, ligand gated ion channel, 2 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 22953 P2RX2 purinergic receptor P2X, ligand gated ion channel, 2 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5024 P2RX3 purinergic receptor P2X, ligand gated ion channel, 3 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5025 P2RX4 purinergic receptor P2X, ligand gated ion channel, 4 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 5025 P2RX4 purinergic receptor P2X, ligand gated ion channel, 4 umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 5027 P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 umls:C0014556 Epilepsy, Temporal Lobe 0.21 2 Biomarker CTD_human 5027 P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 umls:C0037929 Spinal Cord Injuries 0.21 1 Therapeutic CTD_human 5028 P2RY1 purinergic receptor P2Y, G-protein coupled, 1 umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 5034 P4HB prolyl 4-hydroxylase, beta polypeptide umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5034 P4HB prolyl 4-hydroxylase, beta polypeptide umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5034 P4HB prolyl 4-hydroxylase, beta polypeptide umls:C1846707 Spinocerebellar Ataxia 17 0.21 1 Biomarker CTD_human 5036 PA2G4 proliferation-associated 2G4, 38kDa umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5036 PA2G4 proliferation-associated 2G4, 38kDa umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 26986 PABPC1 poly(A) binding protein, cytoplasmic 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 8761 PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55690 PACS1 phosphofurin acidic cluster sorting protein 1 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 55690 PACS1 phosphofurin acidic cluster sorting protein 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 23569 PADI4 peptidyl arginine deiminase, type IV umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 23569 PADI4 peptidyl arginine deiminase, type IV umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5047 PAEP progestagen-associated endometrial protein umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 404715 PAFC Preauricular fistulae, congenital umls:C0546969 Preauricular Fistulae, Congenital 0.21 0 Biomarker CTD_human 55824 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 55824 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 8712 PAGE1 P antigen family, member 1 (prostate associated) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5058 PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 5062 PAK2 p21 protein (Cdc42/Rac)-activated kinase 2 umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 23022 PALLD palladin, cytoskeletal associated protein umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 5066 PAM peptidylglycine alpha-amidating monooxygenase umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 5066 PAM peptidylglycine alpha-amidating monooxygenase umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 387572 PAND1 Panic disorder 1 umls:C0030319 Panic Disorder 0.21 0 Biomarker CTD_human 619493 PAND2 panic disorder 2 umls:C0030319 Panic Disorder 0.21 0 Biomarker CTD_human 677663 PAND3 panic disorder 3 umls:C0030319 Panic Disorder 0.21 0 Biomarker CTD_human 80025 PANK2 pantothenate kinase 2 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 171513 PAOD1 Peripheral arterial occlusive disease 1 umls:C1847493 Peripheral Arterial Occlusive Disease 1 0.21 0 Biomarker CTD_human 196743 PAOX polyamine oxidase (exo-N4-amino) umls:C0038454 Stroke 0.21 1 Biomarker CTD_human 8103 PAPA2 postaxial polydactyly, type A2 umls:C1865883 Polydactyly, Postaxial, Type A2 0.21 0 Biomarker CTD_human 338333 PAPA3 Polydactyly, postaxial, type A3 umls:C1846452 Polydactyly, Postaxial, Type A3 0.21 0 Biomarker CTD_human 450096 PAPA4 Polydactyly, postaxial, type A4 umls:C1837868 Polydactyly, Postaxial, Type A4 0.21 0 Biomarker CTD_human 5069 PAPPA pregnancy-associated plasma protein A, pappalysin 1 umls:C1956346 Coronary Artery Disease 0.21 1 Biomarker CTD_human 8505 PARG poly (ADP-ribose) glycohydrolase umls:C0752351 Embryo Loss 0.21 1 Biomarker CTD_human 170534 PARK10 Parkinson disease 10 (susceptibility) umls:C1847360 Parkinson Disease 10 0.21 0 Biomarker CTD_human 170534 PARK10 Parkinson disease 10 (susceptibility) umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 677662 PARK12 Parkinson disease 12 (susceptibility) umls:C1845165 Parkinson Disease 12 0.21 0 Biomarker CTD_human 677662 PARK12 Parkinson disease 12 (susceptibility) umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 100359403 PARK16 Parkinson disease 16 (susceptibility) umls:C2751012 Parkinson Disease 16 0.21 0 Biomarker CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0677050 Manganese Poisoning 0.21 1 Therapeutic CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0030569 Parkinson Disease, Secondary 0.21 1 Biomarker CTD_human 5072 PARK3 Parkinson disease 3 (autosomal dominant, Lewy body) umls:C1865581 Parkinson Disease 3, Autosomal Dominant Lewy Body 0.21 0 Biomarker CTD_human 5072 PARK3 Parkinson disease 3 (autosomal dominant, Lewy body) umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 11315 PARK7 parkinson protein 7 umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 11315 PARK7 parkinson protein 7 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 11315 PARK7 parkinson protein 7 umls:C0206160 Reticulocytosis 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0002170 Alopecia 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0002871 Anemia 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0011603 Dermatitis 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0022658 Kidney Diseases 0.21 2 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0022821 Kyphosis 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0242422 Parkinsonian Disorders 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C2936350 Plaque, Atherosclerotic 0.21 1 Biomarker CTD_human 142 PARP1 poly (ADP-ribose) polymerase 1 umls:C0042842 Vitamin A Deficiency 0.21 1 Biomarker CTD_human 64761 PARP12 poly (ADP-ribose) polymerase family, member 12 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 10038 PARP2 poly (ADP-ribose) polymerase 2 umls:C0023787 Lipodystrophy 0.21 1 Biomarker CTD_human 10038 PARP2 poly (ADP-ribose) polymerase 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 143 PARP4 poly (ADP-ribose) polymerase family, member 4 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 55010 PARPBP PARP1 binding protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55742 PARVA parvin, alpha umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 23178 PASK PAS domain containing serine/threonine kinase umls:C2931817 Chromosome 2q37 deletion syndrome 0.21 1 Biomarker CTD_human 23178 PASK PAS domain containing serine/threonine kinase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5074 PAWR PRKC, apoptosis, WT1, regulator umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 5074 PAWR PRKC, apoptosis, WT1, regulator umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 5076 PAX2 paired box 2 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 5077 PAX3 paired box 3 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 5077 PAX3 paired box 3 umls:C0011053 Deafness 0.21 1 Biomarker CTD_human 5077 PAX3 paired box 3 umls:C0018566 Hand Deformities, Congenital 0.21 1 Biomarker CTD_human 5077 PAX3 paired box 3 umls:C0497552 Nervous System Malformations 0.21 1 Biomarker CTD_human 5077 PAX3 paired box 3 umls:C1710096 Sinonasal undifferentiated carcinoma 0.21 1 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C0344543 Aniridia, type 2 0.21 0 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C3714873 AXENFELD-RIEGER SYNDROME, TYPE 1 0.21 1 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C1858679 Cataract, Autosomal Dominant 0.21 0 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C0497552 Nervous System Malformations 0.21 1 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C2931644 O'Donnell Pappas syndrome 0.21 0 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C0029132 Optic Nerve Diseases 0.21 1 Biomarker CTD_human 5080 PAX6 paired box 6 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7849 PAX8 paired box 8 umls:C2931367 Thyroid cancer, follicular 0.21 1 Biomarker CTD_human 100303716 PBC2 Biliary cirrhosis, primary, 2 umls:C2751696 Biliary Cirrhosis, Primary, 2 0.21 0 Biomarker CTD_human 100303717 PBC3 Biliary cirrhosis, primary, 3 umls:C2751695 Biliary Cirrhosis, Primary, 3 0.21 0 Biomarker CTD_human 7962 PBCA Pancreatic beta cell, agenesis of umls:C1838655 Pancreatic beta cell agenesis with neonatal diabetes mellitus 0.21 0 Biomarker CTD_human 55872 PBK PDZ binding kinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55872 PBK PDZ binding kinase umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 64081 PBLD phenazine biosynthesis-like protein domain containing umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 55193 PBRM1 polybromo 1 umls:C0345905 Intrahepatic cholangiocarcinoma 0.21 1 Biomarker CTD_human 55193 PBRM1 polybromo 1 umls:C0040100 Thymoma 0.21 1 Biomarker CTD_human 5087 PBX1 pre-B-cell leukemia homeobox 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 80714 PBX4 pre-B-cell leukemia homeobox 4 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 5091 PC pyruvate carboxylase umls:C0006413 Burkitt Lymphoma 0.21 1 Biomarker CTD_human 5091 PC pyruvate carboxylase umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 7834 PCAP predisposing for prostate cancer umls:C1864472 Prostate Cancer, Hereditary, 8 0.21 0 Biomarker CTD_human 7834 PCAP predisposing for prostate cancer umls:C0033578 Prostatic Neoplasms 0.21 0 Biomarker CTD_human 65217 PCDH15 protocadherin-related 15 umls:C0009197 Cochlear Diseases 0.21 1 Biomarker CTD_human 65217 PCDH15 protocadherin-related 15 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 65217 PCDH15 protocadherin-related 15 umls:C2931208 Usher syndrome, type 1D 0.21 0 Biomarker CTD_human 57526 PCDH19 protocadherin 19 umls:C1136249 Mental Retardation, X-Linked 0.21 1 Biomarker CTD_human 5100 PCDH8 protocadherin 8 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5101 PCDH9 protocadherin 9 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 56145 PCDHA3 protocadherin alpha 3 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 56128 PCDHB8 protocadherin beta 8 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 56100 PCDHGB6 protocadherin gamma subfamily B, 6 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5105 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 5105 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 5105 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) umls:C0268194 Phosphoenolpyruvate carboxykinase deficiency 0.21 0 Biomarker CTD_human 5106 PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 5106 PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) umls:C2931278 Phosphoenolpyruvate carboxykinase 2 deficiency 0.21 0 Biomarker CTD_human 5111 PCNA proliferating cell nuclear antigen umls:C0009375 Colonic Neoplasms 0.21 2 Biomarker CTD_human 5111 PCNA proliferating cell nuclear antigen umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 5111 PCNA proliferating cell nuclear antigen umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5111 PCNA proliferating cell nuclear antigen umls:C0034531 Radiation Injuries, Experimental 0.21 1 Biomarker CTD_human 5116 PCNT pericentrin umls:C1847572 Seckel syndrome 2 0.21 1 Biomarker CTD_human 26577 PCOLCE2 procollagen C-endopeptidase enhancer 2 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5121 PCP4 Purkinje cell protein 4 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 5122 PCSK1 proprotein convertase subtilisin/kexin type 1 umls:C0005910 Body Weight 0.21 1 Biomarker CTD_human 27344 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 27344 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0003466 Anus, Imperforate 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0018816 Heart Septal Defects 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0018818 Heart Septal Defects, Ventricular 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C1306503 Hernia, Umbilical 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0022360 Jaw Abnormalities 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0431943 Lower Extremity Deformities, Congenital 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0026633 Mouth Abnormalities 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C1838568 Sacral defect and anterior sacral meningocele 0.21 1 Biomarker CTD_human 5125 PCSK5 proprotein convertase subtilisin/kexin type 5 umls:C0040588 Tracheoesophageal Fistula 0.21 1 Biomarker CTD_human 51449 PCYOX1 prenylcysteine oxidase 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 94003 PDB4 Paget disease of bone 4 umls:C0029401 Osteitis Deformans 0.21 0 Biomarker CTD_human 94003 PDB4 Paget disease of bone 4 umls:C1853473 Paget Disease Of Bone 4 0.21 0 Biomarker CTD_human 27250 PDCD4 programmed cell death 4 (neoplastic transformation inhibitor) umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 10015 PDCD6IP programmed cell death 6 interacting protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10015 PDCD6IP programmed cell death 6 interacting protein umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 5153 PDE1B phosphodiesterase 1B, calmodulin-dependent umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 5137 PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 5138 PDE2A phosphodiesterase 2A, cGMP-stimulated umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5139 PDE3A phosphodiesterase 3A, cGMP-inhibited umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 5139 PDE3A phosphodiesterase 3A, cGMP-inhibited umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 5140 PDE3B phosphodiesterase 3B, cGMP-inhibited umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5142 PDE4B phosphodiesterase 4B, cAMP-specific umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 5144 PDE4D phosphodiesterase 4D, cAMP-specific umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5144 PDE4D phosphodiesterase 4D, cAMP-specific umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8654 PDE5A phosphodiesterase 5A, cGMP-specific umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 5158 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 5146 PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 8622 PDE8B phosphodiesterase 8B umls:C0004782 Basal Ganglia Diseases 0.21 1 Biomarker CTD_human 8622 PDE8B phosphodiesterase 8B umls:C0013362 Dysarthria 0.21 1 Biomarker CTD_human 8622 PDE8B phosphodiesterase 8B umls:C0026837 Muscle Rigidity 0.21 1 Biomarker CTD_human 8622 PDE8B phosphodiesterase 8B umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C0005942 Bone Diseases, Endocrine 0.21 1 Biomarker CTD_human 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 5154 PDGFA platelet-derived growth factor alpha polypeptide umls:C0040028 Thrombocythemia, Essential 0.21 1 Biomarker CTD_human 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C0017566 Gingival Hyperplasia 0.21 1 Biomarker CTD_human 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C0393590 Idiopathic basal ganglia calcification 1 0.21 1 Biomarker CTD_human 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C0035309 Retinal Diseases 0.21 1 Therapeutic CTD_human 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C0040028 Thrombocythemia, Essential 0.21 1 Biomarker CTD_human 56034 PDGFC platelet derived growth factor C umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 80310 PDGFD platelet derived growth factor D umls:C1956346 Coronary Artery Disease 0.21 1 Biomarker CTD_human 80310 PDGFD platelet derived growth factor D umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 80310 PDGFD platelet derived growth factor D umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C0206637 Chondrosarcoma, Mesenchymal 0.21 1 Biomarker CTD_human 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C0015927 Fetal Death 0.21 1 Biomarker CTD_human 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 5156 PDGFRA platelet-derived growth factor receptor, alpha polypeptide umls:C0035238 Respiratory System Abnormalities 0.21 1 Biomarker CTD_human 5159 PDGFRB platelet-derived growth factor receptor, beta polypeptide umls:C1851585 Myeloproliferative Disorder, Chronic, with Eosinophilia 0.21 0 Biomarker CTD_human 5157 PDGFRL platelet-derived growth factor receptor-like umls:C0009404 Colorectal Neoplasms 0.21 0 Biomarker CTD_human 5160 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5160 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5160 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 5160 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5160 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 umls:C0034350 Pyruvate Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 5160 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5162 PDHB pyruvate dehydrogenase (lipoamide) beta umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 8050 PDHX pyruvate dehydrogenase complex, component X umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8050 PDHX pyruvate dehydrogenase complex, component X umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 2923 PDIA3 protein disulfide isomerase family A, member 3 umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 2923 PDIA3 protein disulfide isomerase family A, member 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 2923 PDIA3 protein disulfide isomerase family A, member 3 umls:C1846707 Spinocerebellar Ataxia 17 0.21 1 Biomarker CTD_human 5164 PDK2 pyruvate dehydrogenase kinase, isozyme 2 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 5166 PDK4 pyruvate dehydrogenase kinase, isozyme 4 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 5166 PDK4 pyruvate dehydrogenase kinase, isozyme 4 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 8572 PDLIM4 PDZ and LIM domain 4 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 10611 PDLIM5 PDZ and LIM domain 5 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 406237 PDON2 Periodontitis, localized aggressive umls:C1969478 Periodontitis, Aggressive, 2 0.21 0 Biomarker CTD_human 5171 PDR pigment disorder, reticulate umls:C1845050 Pigmentary Disorder, Reticulate, with Systemic Manifestations 0.21 0 Biomarker CTD_human 81572 PDRG1 p53 and DNA-damage regulated 1 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 23244 PDS5A PDS5 cohesin associated factor A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23590 PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 umls:C3551954 COENZYME Q10 DEFICIENCY, PRIMARY, 1 0.21 0 Biomarker CTD_human 23042 PDXDC1 pyridoxal-dependent decarboxylase domain containing 1 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 23042 PDXDC1 pyridoxal-dependent decarboxylase domain containing 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8566 PDXK pyridoxal (pyridoxine, vitamin B6) kinase umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0002622 Amnesia 0.21 1 Therapeutic CTD_human 5173 PDYN prodynorphin umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0428977 Bradycardia 0.21 3 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0013386 Dyskinesia, Drug-Induced 0.21 2 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0020440 Hypercapnia 0.21 1 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0020649 Hypotension 0.21 4 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0030193 Pain 0.21 2 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0035204 Respiration Disorders 0.21 1 Biomarker CTD_human 5173 PDYN prodynorphin umls:C0035229 Respiratory Insufficiency 0.21 1 Therapeutic CTD_human 5173 PDYN prodynorphin umls:C0036659 Sensation Disorders 0.21 1 Biomarker CTD_human 5174 PDZK1 PDZ domain containing 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 5174 PDZK1 PDZ domain containing 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5174 PDZK1 PDZ domain containing 1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 10158 PDZK1IP1 PDZK1 interacting protein 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5037 PEBP1 phosphatidylethanolamine binding protein 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5037 PEBP1 phosphatidylethanolamine binding protein 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5037 PEBP1 phosphatidylethanolamine binding protein 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5037 PEBP1 phosphatidylethanolamine binding protein 1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 5175 PECAM1 platelet/endothelial cell adhesion molecule 1 umls:C0040034 Thrombocytopenia 0.21 1 Biomarker CTD_human 55825 PECR peroxisomal trans-2-enoyl-CoA reductase umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 780908 PEE2 Preeclampsia/eclampsia 2 umls:C0032914 Pre-Eclampsia 0.21 0 Biomarker CTD_human 780909 PEE3 Preeclampsia/eclampsia 3 umls:C0032914 Pre-Eclampsia 0.21 0 Biomarker CTD_human 5178 PEG3 paternally expressed 3 umls:C0206698 Cholangiocarcinoma 0.21 1 Biomarker CTD_human 5178 PEG3 paternally expressed 3 umls:C0023897 Liver Diseases, Parasitic 0.21 1 Biomarker CTD_human 57162 PELI1 pellino E3 ubiquitin protein ligase 1 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 57162 PELI1 pellino E3 ubiquitin protein ligase 1 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 5179 PENK proenkephalin umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 5179 PENK proenkephalin umls:C0013386 Dyskinesia, Drug-Induced 0.21 1 Biomarker CTD_human 5179 PENK proenkephalin umls:C0027404 Narcolepsy 0.21 1 Biomarker CTD_human 5179 PENK proenkephalin umls:C0027412 Opioid-Related Disorders 0.21 1 Biomarker CTD_human 5179 PENK proenkephalin umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 5179 PENK proenkephalin umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5184 PEPD peptidase D umls:C0019209 Hepatomegaly 0.21 1 Biomarker CTD_human 5184 PEPD peptidase D umls:C3714514 Infection 0.21 1 Biomarker CTD_human 5184 PEPD peptidase D umls:C0700359 Organophosphate Poisoning 0.21 1 Therapeutic CTD_human 5184 PEPD peptidase D umls:C0035242 Respiratory Tract Diseases 0.21 1 Biomarker CTD_human 5184 PEPD peptidase D umls:C0037299 Skin Ulcer 0.21 1 Biomarker CTD_human 5184 PEPD peptidase D umls:C0038002 Splenomegaly 0.21 1 Biomarker CTD_human 5187 PER1 period circadian clock 1 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.21 1 Biomarker CTD_human 5187 PER1 period circadian clock 1 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 8864 PER2 period circadian clock 2 umls:C0001969 Alcoholic Intoxication 0.21 1 Biomarker CTD_human 8864 PER2 period circadian clock 2 umls:C0023473 Leukemia, Myelogenous, Chronic, BCR-ABL Positive 0.21 1 Biomarker CTD_human 8864 PER2 period circadian clock 2 umls:C0038587 Substance Withdrawal Syndrome 0.21 2 Biomarker CTD_human 8863 PER3 period circadian clock 3 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 8863 PER3 period circadian clock 3 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 5189 PEX1 peroxisomal biogenesis factor 1 umls:C3550234 PEROXISOME BIOGENESIS DISORDER 2B 0.21 0 Biomarker CTD_human 5192 PEX10 peroxisomal biogenesis factor 10 umls:C3550234 PEROXISOME BIOGENESIS DISORDER 2B 0.21 0 Biomarker CTD_human 5194 PEX13 peroxisomal biogenesis factor 13 umls:C0162309 Adrenoleukodystrophy 0.21 1 Biomarker CTD_human 5194 PEX13 peroxisomal biogenesis factor 13 umls:C3550234 PEROXISOME BIOGENESIS DISORDER 2B 0.21 0 Biomarker CTD_human 5195 PEX14 peroxisomal biogenesis factor 14 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 5824 PEX19 peroxisomal biogenesis factor 19 umls:C1832200 Peroxisome biogenesis disorders 0.21 1 Biomarker CTD_human 55670 PEX26 peroxisomal biogenesis factor 26 umls:C0162309 Adrenoleukodystrophy 0.21 1 Biomarker CTD_human 55670 PEX26 peroxisomal biogenesis factor 26 umls:C3550234 PEROXISOME BIOGENESIS DISORDER 2B 0.21 0 Biomarker CTD_human 5190 PEX6 peroxisomal biogenesis factor 6 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 5196 PF4 platelet factor 4 umls:C0004364 Autoimmune Diseases 0.21 1 Biomarker CTD_human 5196 PF4 platelet factor 4 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 5196 PF4 platelet factor 4 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 7910 PFBI Plasmodium falciparum blood infection levels umls:C1855456 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL 0.21 0 Biomarker CTD_human 5209 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 5209 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5209 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 5213 PFKM phosphofructokinase, muscle umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 5213 PFKM phosphofructokinase, muscle umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 619475 PFM3 parietal foramina 3 umls:C1835980 Parietal Foramina 3 0.21 0 Biomarker CTD_human 5216 PFN1 profilin 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 5216 PFN1 profilin 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 5222 PGA5 pepsinogen 5, group I (pepsinogen A) umls:C0014868 Esophagitis 0.21 1 Biomarker CTD_human 5223 PGAM1 phosphoglycerate mutase 1 (brain) umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 5223 PGAM1 phosphoglycerate mutase 1 (brain) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 5223 PGAM1 phosphoglycerate mutase 1 (brain) umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 5223 PGAM1 phosphoglycerate mutase 1 (brain) umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 5223 PGAM1 phosphoglycerate mutase 1 (brain) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5223 PGAM1 phosphoglycerate mutase 1 (brain) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5223 PGAM1 phosphoglycerate mutase 1 (brain) umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 5223 PGAM1 phosphoglycerate mutase 1 (brain) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5224 PGAM2 phosphoglycerate mutase 2 (muscle) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5228 PGF placental growth factor umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 5229 PGGT1B protein geranylgeranyltransferase type I, beta subunit umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5230 PGK1 phosphoglycerate kinase 1 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 25796 PGLS 6-phosphogluconolactonase umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 8993 PGLYRP1 peptidoglycan recognition protein 1 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 5236 PGM1 phosphoglucomutase 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5241 PGR progesterone receptor umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5241 PGR progesterone receptor umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 5241 PGR progesterone receptor umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 10857 PGRMC1 progesterone receptor membrane component 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10857 PGRMC1 progesterone receptor membrane component 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7830 PHA2A Pseudohypoaldosteronism type II (gene A) umls:C0033805 Pseudohypoaldosteronism 0.21 0 Biomarker CTD_human 221692 PHACTR1 phosphatase and actin regulator 1 umls:C0751814 Cerebrovascular Trauma 0.21 1 Biomarker CTD_human 221692 PHACTR1 phosphatase and actin regulator 1 umls:C0338480 Migraine without Aura 0.21 1 Biomarker CTD_human 5245 PHB prohibitin umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 5245 PHB prohibitin umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5245 PHB prohibitin umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 5245 PHB prohibitin umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5245 PHB prohibitin umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 5245 PHB prohibitin umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 1911 PHC1 polyhomeotic homolog 1 (Drosophila) umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.21 1 Biomarker CTD_human 5251 PHEX phosphate regulating endopeptidase homolog, X-linked umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 5251 PHEX phosphate regulating endopeptidase homolog, X-linked umls:C0027709 Nephrocalcinosis 0.21 1 Biomarker CTD_human 51131 PHF11 PHD finger protein 11 umls:C1840253 Ige Responsiveness, Atopic 0.21 0 Biomarker CTD_human 26227 PHGDH phosphoglycerate dehydrogenase umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 26227 PHGDH phosphoglycerate dehydrogenase umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 55023 PHIP pleckstrin homology domain interacting protein umls:C1527336 Sjogren's Syndrome 0.21 1 Biomarker CTD_human 22822 PHLDA1 pleckstrin homology-like domain, family A, member 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 22822 PHLDA1 pleckstrin homology-like domain, family A, member 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7262 PHLDA2 pleckstrin homology-like domain, family A, member 2 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 23239 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 404684 PHOBS Phobia, specific umls:C0236801 Phobia, Specific 0.21 0 Biomarker CTD_human 8554 PIAS1 protein inhibitor of activated STAT, 1 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 8554 PIAS1 protein inhibitor of activated STAT, 1 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 10401 PIAS3 protein inhibitor of activated STAT, 3 umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 10464 PIBF1 progesterone immunomodulatory binding factor 1 umls:C0000821 Abortion, Threatened 0.21 1 Biomarker CTD_human 9463 PICK1 protein interacting with PRKCA 1 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 9463 PICK1 protein interacting with PRKCA 1 umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 55367 PIDD1 p53-induced death domain protein 1 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 93183 PIGM phosphatidylinositol glycan anchor biosynthesis, class M umls:C0042487 Venous Thrombosis 0.21 1 Biomarker CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C1955869 Malformations of Cortical Development 0.21 1 Biomarker CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C3665593 Nevus, Epidermal 0.21 0 Biomarker CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0030849 Penile Neoplasms 0.21 1 Biomarker CTD_human 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5295 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) umls:C0006413 Burkitt Lymphoma 0.21 1 Biomarker CTD_human 5295 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 5295 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5295 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5292 PIM1 Pim-1 proto-oncogene, serine/threonine kinase umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 5292 PIM1 Pim-1 proto-oncogene, serine/threonine kinase umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 5304 PIP prolactin-induced protein umls:C0037199 Sinusitis 0.21 1 Biomarker CTD_human 5305 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 9600 PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 5308 PITX2 paired-like homeodomain 2 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 5308 PITX2 paired-like homeodomain 2 umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 5308 PITX2 paired-like homeodomain 2 umls:C0040427 Tooth Abnormalities 0.21 1 Biomarker CTD_human 5309 PITX3 paired-like homeodomain 3 umls:C0027854 Neurologic Manifestations 0.21 1 Biomarker CTD_human 9271 PIWIL1 piwi-like RNA-mediated gene silencing 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 5311 PKD2 polycystic kidney disease 2 (autosomal dominant) umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 5311 PKD2 polycystic kidney disease 2 (autosomal dominant) umls:C0035309 Retinal Diseases 0.21 1 Biomarker CTD_human 8132 PKDTS polycystic kidney disease, infantile severe, with tuberous sclerosis umls:C1838327 Polycystic kidneys, severe infantile with tuberous sclerosis 0.21 0 Biomarker CTD_human 5315 PKM pyruvate kinase, muscle umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5315 PKM pyruvate kinase, muscle umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5315 PKM pyruvate kinase, muscle umls:C0027626 Neoplasm Invasiveness 0.21 2 Biomarker CTD_human 5315 PKM pyruvate kinase, muscle umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 9088 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 5317 PKP1 plakophilin 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 11187 PKP3 plakophilin 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5320 PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5320 PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 5321 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 5321 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) umls:C0005818 Blood Platelet Disorders 0.21 1 Biomarker CTD_human 5321 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5321 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) umls:C0011603 Dermatitis 0.21 1 Biomarker CTD_human 5321 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) umls:C0013295 Duodenal Ulcer 0.21 1 Biomarker CTD_human 5321 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 5321 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) umls:C0035222 Respiratory Distress Syndrome, Adult 0.21 1 Biomarker CTD_human 7941 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) umls:C1840253 Ige Responsiveness, Atopic 0.21 0 Biomarker CTD_human 7941 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 22925 PLA2R1 phospholipase A2 receptor 1, 180kDa umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 9373 PLAA phospholipase A2-activating protein umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 5325 PLAGL1 pleiomorphic adenoma gene-like 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0002994 Angioedema 0.21 3 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0003537 Aphasia 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0003838 Arterial Occlusive Diseases 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0004604 Back Pain 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0004610 Bacteremia 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0751955 Brain Infarction 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0007177 Cardiac Tamponade 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C2937358 Cerebral Hemorrhage 0.21 21 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0013922 Embolism 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0085307 Embolism and Thrombosis 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0149649 Embolism, Cholesterol 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0877172 Hematoma, Epidural, Spinal 0.21 2 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0018946 Hematoma, Subdural 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0019080 Hemorrhage 0.21 8 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0740392 Infarction, Middle Cerebral Artery 0.21 4 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0007781 Intracranial Embolism and Thrombosis 0.21 2 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0151699 Intracranial Hemorrhages 0.21 14 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0752143 Intracranial Thrombosis 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0024031 Low Back Pain 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0025309 Meningoencephalitis 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0030552 Paresis 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0031039 Pericardial Effusion 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0036980 Shock, Cardiogenic 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0037926 Spinal Cord Compression 0.21 1 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C2676721 Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator 0.21 0 Biomarker CTD_human 5327 PLAT plasminogen activator, tissue umls:C0751895 Vasospasm, Intracranial 0.21 1 Therapeutic CTD_human 5327 PLAT plasminogen activator, tissue umls:C0042487 Venous Thrombosis 0.21 3 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0002962 Angina Pectoris 0.21 1 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0002965 Angina, Unstable 0.21 1 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0003460 Anuria 0.21 1 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0003838 Arterial Occlusive Diseases 0.21 4 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0007786 Brain Ischemia 0.21 4 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0007273 Carotid Artery Diseases 0.21 1 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C2937358 Cerebral Hemorrhage 0.21 5 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0007785 Cerebral Infarction 0.21 3 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0007820 Cerebrovascular Disorders 0.21 2 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0010068 Coronary Disease 0.21 2 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0149649 Embolism, Cholesterol 0.21 1 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0018128 Graft Occlusion, Vascular 0.21 4 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0018814 Heart Rupture, Post-Infarction 0.21 1 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0018965 Hematuria 0.21 1 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0019080 Hemorrhage 0.21 4 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0740392 Infarction, Middle Cerebral Artery 0.21 3 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0007781 Intracranial Embolism and Thrombosis 0.21 1 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0022116 Ischemia 0.21 2 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0027697 Nephritis 0.21 1 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0034065 Pulmonary Embolism 0.21 6 Biomarker, Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0034152 Purpura, Schoenlein-Henoch 0.21 2 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0338575 Sagittal Sinus Thrombosis 0.21 1 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0038454 Stroke 0.21 1 Biomarker CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0040038 Thromboembolism 0.21 1 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0042487 Venous Thrombosis 0.21 4 Therapeutic CTD_human 5328 PLAU plasminogen activator, urokinase umls:C0042510 Ventricular Fibrillation 0.21 1 Biomarker CTD_human 5329 PLAUR plasminogen activator, urokinase receptor umls:C0004352 Autistic Disorder 0.21 2 Biomarker CTD_human 5329 PLAUR plasminogen activator, urokinase receptor umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 79887 PLBD1 phospholipase B domain containing 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 23236 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 23236 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) umls:C0030193 Pain 0.21 1 Biomarker CTD_human 5332 PLCB4 phospholipase C, beta 4 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 5333 PLCD1 phospholipase C, delta 1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 23228 PLCL2 phospholipase C-like 2 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 5337 PLD1 phospholipase D1, phosphatidylcholine-specific umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 5337 PLD1 phospholipase D1, phosphatidylcholine-specific umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 5338 PLD2 phospholipase D2 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 5341 PLEK pleckstrin umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 5341 PLEK pleckstrin umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5341 PLEK pleckstrin umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 26499 PLEK2 pleckstrin 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 59338 PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 umls:C1864205 Macular Degeneration, Age-Related, 1 0.21 0 Biomarker CTD_human 79156 PLEKHF1 pleckstrin homology domain containing, family F (with FYVE domain) member 1 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 79666 PLEKHF2 pleckstrin homology domain containing, family F (with FYVE domain) member 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 25894 PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 25894 PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 umls:C1861736 Spinocerebellar Ataxia 31 0.21 0 Biomarker CTD_human 57449 PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 79949 PLEKHS1 pleckstrin homology domain containing, family S member 1 umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 450095 PLF Pulmonary function umls:C3160731 PULMONARY FUNCTION 0.21 0 Biomarker CTD_human 5340 PLG plasminogen umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 5340 PLG plasminogen umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 5340 PLG plasminogen umls:C0042487 Venous Thrombosis 0.21 1 Therapeutic CTD_human 123 PLIN2 perilipin 2 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 123 PLIN2 perilipin 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 10769 PLK2 polo-like kinase 2 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 10769 PLK2 polo-like kinase 2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 10769 PLK2 polo-like kinase 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 10733 PLK4 polo-like kinase 4 umls:C0013336 Dwarfism 0.21 1 Biomarker CTD_human 10733 PLK4 polo-like kinase 4 umls:C0015398 Eye Diseases, Hereditary 0.21 1 Biomarker CTD_human 5350 PLN phospholamban umls:C0206146 Myocardial Stunning 0.21 1 Biomarker CTD_human 5351 PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 umls:C0022821 Kyphosis 0.21 1 Biomarker CTD_human 5351 PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 umls:C2936777 Nevo syndrome 0.21 1 Biomarker CTD_human 5352 PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 umls:C0005967 Bone Neoplasms 0.21 1 Biomarker CTD_human 5352 PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5357 PLS1 plastin 1 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 5358 PLS3 plastin 3 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 100240702 PLSA1 Primary lateral sclerosis, adult, 1 umls:C1968845 Primary Lateral Sclerosis, Adult, 1 0.21 0 Biomarker CTD_human 5359 PLSCR1 phospholipid scramblase 1 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 57088 PLSCR4 phospholipid scramblase 4 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 84898 PLXDC2 plexin domain containing 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 55558 PLXNA3 plexin A3 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 10154 PLXNC1 plexin C1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 5366 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 5371 PML promyelocytic leukemia umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 5371 PML promyelocytic leukemia umls:C0085183 Neoplasms, Second Primary 0.21 1 Biomarker CTD_human 5371 PML promyelocytic leukemia umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 5373 PMM2 phosphomannomutase 2 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 5376 PMP22 peripheral myelin protein 22 umls:C0011303 Demyelinating Diseases 0.21 1 Biomarker CTD_human 5376 PMP22 peripheral myelin protein 22 umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 5376 PMP22 peripheral myelin protein 22 umls:C0014550 Epilepsies, Myoclonic 0.21 1 Biomarker CTD_human 5376 PMP22 peripheral myelin protein 22 umls:C0034372 Quadriplegia 0.21 1 Biomarker CTD_human 5376 PMP22 peripheral myelin protein 22 umls:C0034933 Reflex, Abnormal 0.21 1 Biomarker CTD_human 5395 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) umls:C0221263 Cafe-au-Lait Spots 0.21 1 Biomarker CTD_human 5395 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) umls:C0206663 Neuroectodermal Tumors, Primitive 0.21 1 Biomarker CTD_human 5395 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) umls:C0038874 Supratentorial Neoplasms 0.21 1 Biomarker CTD_human 25953 PNKD paroxysmal nonkinesigenic dyskinesia umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 100188328 PNKD2 paroxysmal nonkinesigenic dyskinesia 2 umls:C1970149 Paroxysmal Nonkinesigenic Dyskinesia 2 0.21 0 Biomarker CTD_human 11284 PNKP polynucleotide kinase 3'-phosphatase umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 11284 PNKP polynucleotide kinase 3'-phosphatase umls:C1563696 DNA Repair-Deficiency Disorders 0.21 1 Biomarker CTD_human 5368 PNOC prepronociceptin umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 5368 PNOC prepronociceptin umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 5368 PNOC prepronociceptin umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 5368 PNOC prepronociceptin umls:C0600467 Neurogenic Inflammation 0.21 1 Therapeutic CTD_human 5368 PNOC prepronociceptin umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Therapeutic CTD_human 4860 PNP purine nucleoside phosphorylase umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 4860 PNP purine nucleoside phosphorylase umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 4860 PNP purine nucleoside phosphorylase umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 285848 PNPLA1 patatin-like phospholipase domain containing 1 umls:C0020757 Ichthyosis 0.21 1 Biomarker CTD_human 57104 PNPLA2 patatin-like phospholipase domain containing 2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 10908 PNPLA6 patatin-like phospholipase domain containing 6 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 10908 PNPLA6 patatin-like phospholipase domain containing 6 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10908 PNPLA6 patatin-like phospholipase domain containing 6 umls:C0152025 Polyneuropathies 0.21 1 Biomarker CTD_human 55163 PNPO pyridoxamine 5'-phosphate oxidase umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 87178 PNPT1 polyribonucleotide nucleotidyltransferase 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 5420 PODXL podocalyxin-like umls:C0007273 Carotid Artery Diseases 0.21 1 Biomarker CTD_human 5420 PODXL podocalyxin-like umls:C0019080 Hemorrhage 0.21 1 Biomarker CTD_human 5420 PODXL podocalyxin-like umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 5423 POLB polymerase (DNA directed), beta umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5423 POLB polymerase (DNA directed), beta umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 5424 POLD1 polymerase (DNA directed), delta 1, catalytic subunit umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 5424 POLD1 polymerase (DNA directed), delta 1, catalytic subunit umls:C0011053 Deafness 0.21 1 Biomarker CTD_human 5424 POLD1 polymerase (DNA directed), delta 1, catalytic subunit umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 5424 POLD1 polymerase (DNA directed), delta 1, catalytic subunit umls:C0020619 Hypogonadism 0.21 1 Biomarker CTD_human 5424 POLD1 polymerase (DNA directed), delta 1, catalytic subunit umls:C0022360 Jaw Abnormalities 0.21 1 Biomarker CTD_human 10714 POLD3 polymerase (DNA-directed), delta 3, accessory subunit umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5426 POLE polymerase (DNA directed), epsilon, catalytic subunit umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 54107 POLE3 polymerase (DNA directed), epsilon 3, accessory subunit umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5428 POLG polymerase (DNA directed), gamma umls:C0860207 Drug-Induced Liver Injury 0.21 2 Biomarker CTD_human 51082 POLR1D polymerase (RNA) I polypeptide D, 16kDa umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 55703 POLR3B polymerase (RNA) III (DNA directed) polypeptide B umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 51728 POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 51728 POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0001614 Adrenal Cortex Diseases 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0002622 Amnesia 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0003500 Aortic Stenosis, Subvalvular 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0003868 Arthritis, Gouty 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0005910 Body Weight 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0428977 Bradycardia 0.21 3 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0006434 Burns 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0018800 Cardiomegaly 0.21 6 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 5 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0007370 Catalepsy 0.21 2 Biomarker, Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0007789 Cerebral Palsy 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0553730 Chondrocalcinosis 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0236736 Cocaine-Related Disorders 0.21 4 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0009806 Constipation 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0010692 Cystitis 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0011848 Diabetes Insipidus 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0013604 Edema 0.21 3 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0014550 Epilepsies, Myoclonic 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0014549 Epilepsy, Tonic-Clonic 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0015397 Eye Diseases 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0151827 Eye Pain 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0015469 Facial Paralysis 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0015814 Femur Head Necrosis 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0015967 Fever 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0017178 Gastrointestinal Diseases 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0017658 Glomerulonephritis 0.21 2 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0018965 Hematuria 0.21 2 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0019080 Hemorrhage 0.21 2 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0019337 Heroin Dependence 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0019572 Hirsutism 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0020438 Hypercalciuria 0.21 2 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0020598 Hypocalcemia 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0020621 Hypokalemia 0.21 9 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0020649 Hypotension 0.21 4 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0021053 Immune System Diseases 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0022650 Kidney Calculi 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0022672 Kidney Tubular Necrosis, Acute 0.21 2 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0023893 Liver Cirrhosis, Experimental 0.21 2 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0162557 Liver Failure, Acute 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0023976 Long QT Syndrome 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0004936 Mental Disorders 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0026896 Myasthenia Gravis 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0027497 Nausea 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0027709 Nephrocalcinosis 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0600467 Neurogenic Inflammation 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0028961 Oliguria 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0393626 Opsoclonus-Myoclonus Syndrome 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0030286 Pancreatic Diseases 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0030846 Penile Diseases 0.21 3 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0032787 Postoperative Complications 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C2825055 Recurrence 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0035258 Restless Legs Syndrome 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0035411 Rhabdomyoma 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0574960 Sacroiliitis 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0037052 Sick Sinus Syndrome 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0851578 Sleep Disorders 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0039103 Synovitis 0.21 1 Therapeutic CTD_human 5443 POMC proopiomelanocortin umls:C0042029 Urinary Tract Infections 0.21 1 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0043094 Weight Gain 0.21 2 Biomarker CTD_human 5443 POMC proopiomelanocortin umls:C0043096 Weight Loss 0.21 2 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C0003860 Arteritis 0.21 1 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C0005612 Birth Weight 0.21 1 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C0009806 Constipation 0.21 1 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C0376545 Hematologic Neoplasms 0.21 1 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C0020550 Hyperthyroidism 0.21 1 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C2674665 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 0.21 0 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C0206663 Neuroectodermal Tumors, Primitive 0.21 1 Biomarker CTD_human 5444 PON1 paraoxonase 1 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Therapeutic CTD_human 5444 PON1 paraoxonase 1 umls:C0028797 Occupational Diseases 0.21 1 Biomarker CTD_human 5445 PON2 paraoxonase 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10775 POP4 processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 5447 POR P450 (cytochrome) oxidoreductase umls:C0002453 Amenorrhea 0.21 1 Biomarker CTD_human 5447 POR P450 (cytochrome) oxidoreductase umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 5447 POR P450 (cytochrome) oxidoreductase umls:C0206726 Gliosarcoma 0.21 1 Therapeutic CTD_human 5447 POR P450 (cytochrome) oxidoreductase umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 100196910 POROK2 Porokeratosis, palmar, plantar, and disseminated 1 umls:C1867982 Porokeratosis punctata palmaris et plantaris 0.21 0 Biomarker CTD_human 353147 POROK4 disseminated superficial actinic porokeratosis 2 umls:C2676508 Porokeratosis, Disseminated Superficial Actinic, 4 0.21 0 Biomarker CTD_human 100190982 POROK5 Porokeratosis, disseminated superficial actinic, 3 umls:C2676769 Porokeratosis, Disseminated Superficial Actinic, 3 0.21 0 Biomarker CTD_human 100196911 POROK6 Porokeratosis, disseminated superficial actinic, 4 umls:C2676508 Porokeratosis, Disseminated Superficial Actinic, 4 0.21 0 Biomarker CTD_human 10631 POSTN periostin, osteoblast specific factor umls:C1319853 Asthma, Aspirin-Induced 0.21 1 Biomarker CTD_human 10631 POSTN periostin, osteoblast specific factor umls:C0006287 Bronchopulmonary Dysplasia 0.21 1 Biomarker CTD_human 10631 POSTN periostin, osteoblast specific factor umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10631 POSTN periostin, osteoblast specific factor umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 10631 POSTN periostin, osteoblast specific factor umls:C0013264 Muscular Dystrophy, Duchenne 0.21 1 Biomarker CTD_human 25913 POT1 protection of telomeres 1 umls:C0008625 Chromosome Aberrations 0.21 1 Biomarker CTD_human 25913 POT1 protection of telomeres 1 umls:C0008626 Chromosome Disorders 0.21 1 Biomarker CTD_human 25913 POT1 protection of telomeres 1 umls:C0023448 Leukemia, Lymphoid 0.21 2 Biomarker CTD_human 25913 POT1 protection of telomeres 1 umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 5449 POU1F1 POU class 1 homeobox 1 umls:C0878683 Pituitary Hormone Deficiency, Combined, 2 0.21 0 Biomarker CTD_human 5452 POU2F2 POU class 2 homeobox 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5455 POU3F3 POU class 3 homeobox 3 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 5457 POU4F1 POU class 4 homeobox 1 umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 5460 POU5F1 POU class 5 homeobox 1 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 8611 PPAP2A phosphatidic acid phosphatase type 2A umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 8611 PPAP2A phosphatidic acid phosphatase type 2A umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C2930930 Abdominal obesity metabolic syndrome 0.21 1 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0010346 Crohn Disease 0.21 1 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0011853 Diabetes Mellitus, Experimental 0.21 3 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0020476 Hyperlipoproteinemias 0.21 1 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0020615 Hypoglycemia 0.21 1 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Therapeutic CTD_human 5465 PPARA peroxisome proliferator-activated receptor alpha umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 5467 PPARD peroxisome proliferator-activated receptor delta umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 5467 PPARD peroxisome proliferator-activated receptor delta umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 5467 PPARD peroxisome proliferator-activated receptor delta umls:C0031117 Peripheral Nervous System Diseases 0.21 2 Biomarker CTD_human 5467 PPARD peroxisome proliferator-activated receptor delta umls:C0037286 Skin Neoplasms 0.21 2 Biomarker, Therapeutic CTD_human 5467 PPARD peroxisome proliferator-activated receptor delta umls:C0043094 Weight Gain 0.21 1 Therapeutic CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C1836302 Carotid Intimal Medial Thickness 1 0.21 0 Biomarker CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0236811 Chronobiology Disorders 0.21 1 Biomarker CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0017658 Glomerulonephritis 0.21 1 Therapeutic CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0023794 Lipidoses 0.21 1 Biomarker CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0079772 Lymphoma, T-Cell 0.21 1 Biomarker CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0221406 Pituitary ACTH Hypersecretion 0.21 1 Therapeutic CTD_human 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C2931367 Thyroid cancer, follicular 0.21 1 Biomarker CTD_human 10891 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha umls:C0006079 Bowen's Disease 0.21 1 Biomarker CTD_human 10891 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.21 1 Biomarker CTD_human 10891 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha umls:C0026851 Muscular Dystrophy, Animal 0.21 1 Therapeutic CTD_human 10891 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 133522 PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta umls:C0020473 Hyperlipidemias 0.21 1 Biomarker CTD_human 5471 PPAT phosphoribosyl pyrophosphate amidotransferase umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5471 PPAT phosphoribosyl pyrophosphate amidotransferase umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5473 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) umls:C0020538 Hypertension 0.21 2 Biomarker CTD_human 8496 PPFIBP1 PTPRF interacting protein, binding protein 1 (liprin beta 1) umls:C0085269 Plasma Cell Granuloma, Pulmonary 0.21 1 Biomarker CTD_human 5478 PPIA peptidylprolyl isomerase A (cyclophilin A) umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 5478 PPIA peptidylprolyl isomerase A (cyclophilin A) umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 5478 PPIA peptidylprolyl isomerase A (cyclophilin A) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5478 PPIA peptidylprolyl isomerase A (cyclophilin A) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5479 PPIB peptidylprolyl isomerase B (cyclophilin B) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5480 PPIC peptidylprolyl isomerase C (cyclophilin C) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 10105 PPIF peptidylprolyl isomerase F umls:C0021831 Intestinal Diseases 0.21 1 Biomarker CTD_human 10105 PPIF peptidylprolyl isomerase F umls:C0041582 Ulcer 0.21 1 Biomarker CTD_human 5495 PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 8493 PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D umls:C0677866 Brain Stem Neoplasms 0.21 1 Biomarker CTD_human 22843 PPM1E protein phosphatase, Mg2+/Mn2+ dependent, 1E umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 151742 PPM1L protein phosphatase, Mg2+/Mn2+ dependent, 1L umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 5498 PPOX protoporphyrinogen oxidase umls:C2936913 Porphyria, South African type 0.21 0 Biomarker CTD_human 5501 PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 10848 PPP1R13L protein phosphatase 1, regulatory subunit 13 like umls:C0023418 Leukemia 0.21 1 Biomarker CTD_human 94274 PPP1R14A protein phosphatase 1, regulatory (inhibitor) subunit 14A umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 94274 PPP1R14A protein phosphatase 1, regulatory (inhibitor) subunit 14A umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 26472 PPP1R14B protein phosphatase 1, regulatory (inhibitor) subunit 14B umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 10842 PPP1R17 protein phosphatase 1, regulatory subunit 17 umls:C0745103 HYPERCHOLESTEROLEMIA, FAMILIAL 0.21 0 Biomarker CTD_human 5502 PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A umls:C0003811 Arrhythmias, Cardiac 0.21 1 Biomarker CTD_human 5502 PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 5502 PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 84152 PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B umls:C0007370 Catalepsy 0.21 1 Therapeutic CTD_human 5504 PPP1R2 protein phosphatase 1, regulatory (inhibitor) subunit 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5506 PPP1R3A protein phosphatase 1, regulatory subunit 3A umls:C0271694 Lipodystrophy, Familial Partial 0.21 0 Biomarker CTD_human 84687 PPP1R9B protein phosphatase 1, regulatory subunit 9B umls:C0037199 Sinusitis 0.21 1 Biomarker CTD_human 5515 PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme umls:C0004096 Asthma 0.21 1 Biomarker CTD_human 5515 PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 5515 PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5518 PPP2R1A protein phosphatase 2, regulatory subunit A, alpha umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5518 PPP2R1A protein phosphatase 2, regulatory subunit A, alpha umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 5518 PPP2R1A protein phosphatase 2, regulatory subunit A, alpha umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5520 PPP2R2A protein phosphatase 2, regulatory subunit B, alpha umls:C0013990 Emphysema 0.21 1 Biomarker CTD_human 5522 PPP2R2C protein phosphatase 2, regulatory subunit B, gamma umls:C0013990 Emphysema 0.21 1 Biomarker CTD_human 5524 PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5524 PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5525 PPP2R5A protein phosphatase 2, regulatory subunit B', alpha umls:C0013990 Emphysema 0.21 1 Biomarker CTD_human 5530 PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 5530 PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme umls:C0030305 Pancreatitis 0.21 1 Biomarker CTD_human 5530 PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5530 PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5530 PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme umls:C0039584 Testicular Diseases 0.21 1 Biomarker CTD_human 9989 PPP4R1 protein phosphatase 4, regulatory subunit 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 780910 PPR2 Photoparoxysmal response 2 umls:C1835967 PHOTOPAROXYSMAL RESPONSE 2 0.21 0 Biomarker CTD_human 619471 PPR3 photoparoxysmal response 3 umls:C1835966 Photoparoxysmal Response 3 0.21 0 Biomarker CTD_human 10084 PQBP1 polyglutamine binding protein 1 umls:C0018273 Growth Disorders 0.21 2 Biomarker CTD_human 10084 PQBP1 polyglutamine binding protein 1 umls:C0018817 Heart Septal Defects, Atrial 0.21 1 Biomarker CTD_human 10084 PQBP1 polyglutamine binding protein 1 umls:C0037773 Spastic Paraplegia, Hereditary 0.21 1 Biomarker CTD_human 130814 PQLC3 PQ loop repeat containing 3 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 23532 PRAME preferentially expressed antigen in melanoma umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 23532 PRAME preferentially expressed antigen in melanoma umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 23532 PRAME preferentially expressed antigen in melanoma umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 23532 PRAME preferentially expressed antigen in melanoma umls:C1261473 Sarcoma 0.21 1 Biomarker CTD_human 100301572 PRBNS Pierre Robin syndrome umls:C0031900 Pierre Robin Syndrome 0.21 0 Biomarker CTD_human 9055 PRC1 protein regulator of cytokinesis 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5548 PRD primary retinal dysplasia umls:C1418874 RETINAL DYSPLASIA, PRIMARY 0.21 0 Biomarker CTD_human 639 PRDM1 PR domain containing 1, with ZNF domain umls:C0009324 Colitis, Ulcerative 0.21 1 Biomarker CTD_human 639 PRDM1 PR domain containing 1, with ZNF domain umls:C1527336 Sjogren's Syndrome 0.21 1 Biomarker CTD_human 63978 PRDM14 PR domain containing 14 umls:C1961102 Precursor Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 63978 PRDM14 PR domain containing 14 umls:C1336708 Testicular Germ Cell Tumor 0.21 1 Biomarker CTD_human 7799 PRDM2 PR domain containing 2, with ZNF domain umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5052 PRDX1 peroxiredoxin 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 5052 PRDX1 peroxiredoxin 1 umls:C0036323 Schistosomiasis 0.21 1 Therapeutic CTD_human 7001 PRDX2 peroxiredoxin 2 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 7001 PRDX2 peroxiredoxin 2 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 7001 PRDX2 peroxiredoxin 2 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 7001 PRDX2 peroxiredoxin 2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7001 PRDX2 peroxiredoxin 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 10935 PRDX3 peroxiredoxin 3 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 10935 PRDX3 peroxiredoxin 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10935 PRDX3 peroxiredoxin 3 umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.21 1 Biomarker CTD_human 10935 PRDX3 peroxiredoxin 3 umls:C0085084 Motor Neuron Disease 0.21 1 Biomarker CTD_human 10935 PRDX3 peroxiredoxin 3 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 10549 PRDX4 peroxiredoxin 4 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 10549 PRDX4 peroxiredoxin 4 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 10549 PRDX4 peroxiredoxin 4 umls:C0271650 Glucose Intolerance 0.21 1 Therapeutic CTD_human 10549 PRDX4 peroxiredoxin 4 umls:C0020456 Hyperglycemia 0.21 1 Therapeutic CTD_human 10549 PRDX4 peroxiredoxin 4 umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.21 1 Biomarker CTD_human 25824 PRDX5 peroxiredoxin 5 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 9588 PRDX6 peroxiredoxin 6 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 9588 PRDX6 peroxiredoxin 6 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5550 PREP prolyl endopeptidase umls:C0002622 Amnesia 0.21 1 Biomarker CTD_human 5550 PREP prolyl endopeptidase umls:C0002624 Amnesia, Retrograde 0.21 1 Biomarker CTD_human 5550 PREP prolyl endopeptidase umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5550 PREP prolyl endopeptidase umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5551 PRF1 perforin 1 (pore forming protein) umls:C0024305 Lymphoma, Non-Hodgkin 0.21 0 Biomarker CTD_human 10216 PRG4 proteoglycan 4 umls:C0009917 Contracture 0.21 1 Biomarker CTD_human 10216 PRG4 proteoglycan 4 umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 166336 PRICKLE2 prickle homolog 2 (Drosophila) umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 166336 PRICKLE2 prickle homolog 2 (Drosophila) umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 5562 PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit umls:C0271650 Glucose Intolerance 0.21 1 Biomarker CTD_human 5563 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit umls:C0018800 Cardiomegaly 0.21 1 Therapeutic CTD_human 5563 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit umls:C0271650 Glucose Intolerance 0.21 1 Biomarker CTD_human 5563 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 5563 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit umls:C0038454 Stroke 0.21 1 Therapeutic CTD_human 5564 PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5564 PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 53632 PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit umls:C0007001 Carbohydrate Metabolism, Inborn Errors 0.21 2 Biomarker CTD_human 53632 PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit umls:C0023772 Lipid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C2936861 Apparent mineralocorticoid excess 0.21 1 Biomarker CTD_human 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C0238463 Thyroid cancer, papillary 0.21 0 Biomarker CTD_human 5577 PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 5578 PRKCA protein kinase C, alpha umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 5578 PRKCA protein kinase C, alpha umls:C0021841 Intestinal Neoplasms 0.21 1 Biomarker CTD_human 5579 PRKCB protein kinase C, beta umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5579 PRKCB protein kinase C, beta umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5580 PRKCD protein kinase C, delta umls:C0021841 Intestinal Neoplasms 0.21 1 Biomarker CTD_human 5580 PRKCD protein kinase C, delta umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 5580 PRKCD protein kinase C, delta umls:C0242422 Parkinsonian Disorders 0.21 1 Therapeutic CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0242231 Coronary Stenosis 0.21 1 Biomarker CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0011881 Diabetic Nephropathies 0.21 1 Biomarker CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5581 PRKCE protein kinase C, epsilon umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 5582 PRKCG protein kinase C, gamma umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5582 PRKCG protein kinase C, gamma umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 5583 PRKCH protein kinase C, eta umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 5583 PRKCH protein kinase C, eta umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 5590 PRKCZ protein kinase C, zeta umls:C0023418 Leukemia 0.21 1 Biomarker CTD_human 5587 PRKD1 protein kinase D1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5587 PRKD1 protein kinase D1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 25865 PRKD2 protein kinase D2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 23683 PRKD3 protein kinase D3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23683 PRKD3 protein kinase D3 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 23683 PRKD3 protein kinase D3 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 5591 PRKDC protein kinase, DNA-activated, catalytic polypeptide umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 5591 PRKDC protein kinase, DNA-activated, catalytic polypeptide umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 5591 PRKDC protein kinase, DNA-activated, catalytic polypeptide umls:C0019151 Hepatic Encephalopathy 0.21 1 Biomarker CTD_human 5591 PRKDC protein kinase, DNA-activated, catalytic polypeptide umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 5591 PRKDC protein kinase, DNA-activated, catalytic polypeptide umls:C0001364 Massive Hepatic Necrosis 0.21 1 Biomarker CTD_human 5591 PRKDC protein kinase, DNA-activated, catalytic polypeptide umls:C0032343 Poisoning 0.21 1 Biomarker CTD_human 5591 PRKDC protein kinase, DNA-activated, catalytic polypeptide umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5592 PRKG1 protein kinase, cGMP-dependent, type I umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5592 PRKG1 protein kinase, cGMP-dependent, type I umls:C0020542 Hypertension, Pulmonary 0.21 1 Biomarker CTD_human 5592 PRKG1 protein kinase, cGMP-dependent, type I umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 8575 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 8575 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0002871 Anemia 0.21 1 Therapeutic CTD_human 5617 PRL prolactin umls:C0004782 Basal Ganglia Diseases 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0428977 Bradycardia 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0007370 Catalepsy 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0015951 Fetal Resorption 0.21 1 Therapeutic CTD_human 5617 PRL prolactin umls:C0015967 Fever 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0018418 Gynecomastia 0.21 2 Biomarker CTD_human 5617 PRL prolactin umls:C0020619 Hypogonadism 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 5617 PRL prolactin umls:C0021308 Infarction 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0023601 Leydig Cell Tumor 0.21 1 Therapeutic CTD_human 5617 PRL prolactin umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 5617 PRL prolactin umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0242422 Parkinsonian Disorders 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0349231 Phobic Disorders 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0032963 Pregnancy Complications, Cardiovascular 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0034040 Puerperal Disorders 0.21 1 Biomarker CTD_human 5617 PRL prolactin umls:C0237873 Sexual Dysfunction, Physiological 0.21 2 Biomarker CTD_human 5617 PRL prolactin umls:C0033953 Sexual Dysfunctions, Psychological 0.21 2 Biomarker CTD_human 5617 PRL prolactin umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 5618 PRLR prolactin receptor umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 5618 PRLR prolactin receptor umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 5618 PRLR prolactin receptor umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 5618 PRLR prolactin receptor umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5621 PRNP prion protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5621 PRNP prion protein umls:C1864112 Huntington Disease-Like 1 0.21 0 Biomarker CTD_human 5621 PRNP prion protein umls:C0751778 Myoclonic Epilepsies, Progressive 0.21 1 Biomarker CTD_human 5621 PRNP prion protein umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 5621 PRNP prion protein umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5621 PRNP prion protein umls:C0036457 Scrapie 0.21 4 Biomarker CTD_human 5621 PRNP prion protein umls:C1847650 Spongiform Encephalopathy with Neuropsychiatric Features 0.21 0 Biomarker CTD_human 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C0003860 Arteritis 0.21 1 Biomarker CTD_human 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C0012739 Disseminated Intravascular Coagulation 0.21 1 Biomarker CTD_human 5624 PROC protein C (inactivator of coagulation factors Va and VIIIa) umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 60675 PROK2 prokineticin 2 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 60675 PROK2 prokineticin 2 umls:C0342384 Idiopathic Hypogonadotropic Hypogonadism 0.21 0 Biomarker CTD_human 10887 PROKR1 prokineticin receptor 1 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 10887 PROKR1 prokineticin receptor 1 umls:C0030193 Pain 0.21 1 Biomarker CTD_human 8842 PROM1 prominin 1 umls:C0206627 Mixed Tumor, Mullerian 0.21 1 Biomarker CTD_human 8842 PROM1 prominin 1 umls:C0042138 Uterine Neoplasms 0.21 1 Biomarker CTD_human 5627 PROS1 protein S (alpha) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5627 PROS1 protein S (alpha) umls:C0338575 Sagittal Sinus Thrombosis 0.21 1 Biomarker CTD_human 27339 PRPF19 pre-mRNA processing factor 19 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 27339 PRPF19 pre-mRNA processing factor 19 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 9128 PRPF4 pre-mRNA processing factor 4 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 10594 PRPF8 pre-mRNA processing factor 8 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5630 PRPH peripherin umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 0 Biomarker CTD_human 5961 PRPH2 peripherin 2 (retinal degeneration, slow) umls:C0311338 Fundus Albipunctatus 0.21 0 Biomarker CTD_human 5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 133619 PRRC1 proline-rich coiled-coil 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5396 PRRX1 paired related homeobox 1 umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 5396 PRRX1 paired related homeobox 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5640 PRS Prieto X-linked mental retardation syndrome umls:C1839730 Prieto X-linked mental retardation syndrome 0.21 0 Biomarker CTD_human 11098 PRSS23 protease, serine, 23 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 646960 PRSS56 protease, serine, 56 umls:C0027092 Myopia 0.21 1 Biomarker CTD_human 5652 PRSS8 protease, serine, 8 umls:C0015929 Fetal Diseases 0.21 1 Biomarker CTD_human 5652 PRSS8 protease, serine, 8 umls:C0027794 Neural Tube Defects 0.21 1 Therapeutic CTD_human 5652 PRSS8 protease, serine, 8 umls:C0032045 Placenta Diseases 0.21 1 Therapeutic CTD_human 5652 PRSS8 protease, serine, 8 umls:C0086468 Prenatal Injuries 0.21 1 Therapeutic CTD_human 5652 PRSS8 protease, serine, 8 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5652 PRSS8 protease, serine, 8 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 56952 PRTFDC1 phosphoribosyl transferase domain containing 1 umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 56952 PRTFDC1 phosphoribosyl transferase domain containing 1 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 56952 PRTFDC1 phosphoribosyl transferase domain containing 1 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 5660 PSAP prosaposin umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8000 PSCA prostate stem cell antigen umls:C0023743 Linitis Plastica 0.21 1 Biomarker CTD_human 84249 PSD2 pleckstrin and Sec7 domain containing 2 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 23362 PSD3 pleckstrin and Sec7 domain containing 3 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 23362 PSD3 pleckstrin and Sec7 domain containing 3 umls:C0017638 Glioma 0.21 1 Biomarker CTD_human 5663 PSEN1 presenilin 1 umls:C0004045 Asphyxia Neonatorum 0.21 1 Biomarker CTD_human 5663 PSEN1 presenilin 1 umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 5663 PSEN1 presenilin 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5663 PSEN1 presenilin 1 umls:C1840560 Hidradenitis suppurativa, familial 0.21 1 Biomarker CTD_human 5663 PSEN1 presenilin 1 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 5664 PSEN2 presenilin 2 umls:C0004045 Asphyxia Neonatorum 0.21 1 Biomarker CTD_human 5664 PSEN2 presenilin 2 umls:C3150958 Cardiomyopathy, Dilated, 1V 0.21 0 Biomarker CTD_human 55851 PSENEN presenilin enhancer gamma secretase subunit umls:C1840560 Hidradenitis suppurativa, familial 0.21 1 Biomarker CTD_human 541461 PSHK2 Pseudohyperkalemia, familial, 2, due to red cell leak umls:C1836705 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 0.21 0 Biomarker CTD_human 5683 PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 5683 PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 5685 PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 5685 PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5685 PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 5685 PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5685 PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5686 PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5686 PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 5687 PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5689 PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 5689 PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 5699 PSMB10 proteasome (prosome, macropain) subunit, beta type, 10 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5692 PSMB4 proteasome (prosome, macropain) subunit, beta type, 4 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5693 PSMB5 proteasome (prosome, macropain) subunit, beta type, 5 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5695 PSMB7 proteasome (prosome, macropain) subunit, beta type, 7 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 29893 PSMC3IP PSMC3 interacting protein umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5705 PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5719 PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5709 PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 9861 PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5714 PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5720 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 5720 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 5720 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5720 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5720 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5721 PSME2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 5721 PSME2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 10197 PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10197 PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 23198 PSME4 proteasome (prosome, macropain) activator subunit 4 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 619408 PSNP2 supranuclear palsy, progressive, 2 umls:C1836148 Supranuclear Palsy, Progressive, 2 0.21 0 Biomarker CTD_human 100038248 PSNP3 Supranuclear palsy, progressive, 3 umls:C1970476 Supranuclear Palsy, Progressive, 3 0.21 0 Biomarker CTD_human 503613 PSORS10 psoriasis susceptibility 10 umls:C0033860 Psoriasis 0.21 0 Biomarker CTD_human 100271719 PSORS11 Psoriasis susceptibility 11 umls:C0033860 Psoriasis 0.21 0 Biomarker CTD_human 170680 PSORS1C2 psoriasis susceptibility 1 candidate 2 umls:C0026764 Multiple Myeloma 0.21 1 Biomarker CTD_human 5723 PSPH phosphoserine phosphatase umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 780904 PSS Potocki-Shaffer syndrome umls:C1832588 Potocki-Shaffer syndrome 0.21 0 Biomarker CTD_human 9050 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5724 PTAFR platelet-activating factor receptor umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 5725 PTBP1 polypyrimidine tract binding protein 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5725 PTBP1 polypyrimidine tract binding protein 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5727 PTCH1 patched 1 umls:C0006118 Brain Neoplasms 0.21 1 Biomarker CTD_human 5727 PTCH1 patched 1 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 5727 PTCH1 patched 1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 8643 PTCH2 patched 2 umls:C0007117 Carcinoma, Basal Cell 0.21 0 Biomarker CTD_human 8643 PTCH2 patched 2 umls:C0024433 Macrostomia 0.21 0 Biomarker CTD_human 139411 PTCHD1 patched domain containing 1 umls:C0008074 Child Development Disorders, Pervasive 0.21 2 Biomarker CTD_human 139411 PTCHD1 patched domain containing 1 umls:C1136249 Mental Retardation, X-Linked 0.21 1 Biomarker CTD_human 79052 PTCPRN Papillary thyroid carcinoma with papillary renal neoplasia umls:C1854104 Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia 0.21 0 Biomarker CTD_human 171558 PTCRA pre T-cell antigen receptor alpha umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0003081 Anisometropia 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0020564 Hypertrophy 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C3714756 Intellectual Disability 0.21 5 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0023014 Language Development Disorders 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0175704 LEOPARD Syndrome 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0023976 Long QT Syndrome 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C1835047 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C1333989 Meningioma, familial 0.21 0 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0026613 Motor Skills Disorders 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0027626 Neoplasm Invasiveness 0.21 1 Therapeutic CTD_human 5728 PTEN phosphatase and tensin homolog umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C2931367 Thyroid cancer, follicular 0.21 0 Biomarker CTD_human 5728 PTEN phosphatase and tensin homolog umls:C2931229 VACTERL hydrocephaly 0.21 1 Biomarker CTD_human 9317 PTER phosphotriesterase related umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 9317 PTER phosphotriesterase related umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 256297 PTF1A pancreas specific transcription factor, 1a umls:C0007760 Cerebellar Diseases 0.21 2 Biomarker CTD_human 256297 PTF1A pancreas specific transcription factor, 1a umls:C1850096 Pancreatic Agenesis, Congenital 0.21 2 Biomarker CTD_human 11251 PTGDR2 prostaglandin D2 receptor 2 umls:C1319853 Asthma, Aspirin-Induced 0.21 1 Biomarker CTD_human 5731 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa umls:C1134719 Carcinoma, Ductal, Breast 0.21 1 Biomarker CTD_human 5731 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 5731 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5731 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5731 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5732 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa umls:C1319853 Asthma, Aspirin-Induced 0.21 1 Biomarker CTD_human 5732 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa umls:C1859648 Asthma, Nasal Polyps, And Aspirin Intolerance 0.21 0 Biomarker CTD_human 5732 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 5732 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa umls:C0021359 Infertility 0.21 1 Biomarker CTD_human 5733 PTGER3 prostaglandin E receptor 3 (subtype EP3) umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 5733 PTGER3 prostaglandin E receptor 3 (subtype EP3) umls:C0030804 Pemphigoid, Benign Mucous Membrane 0.21 1 Biomarker CTD_human 5733 PTGER3 prostaglandin E receptor 3 (subtype EP3) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 5733 PTGER3 prostaglandin E receptor 3 (subtype EP3) umls:C0038325 Stevens-Johnson Syndrome 0.21 1 Biomarker CTD_human 5733 PTGER3 prostaglandin E receptor 3 (subtype EP3) umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 5734 PTGER4 prostaglandin E receptor 4 (subtype EP4) umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 5734 PTGER4 prostaglandin E receptor 4 (subtype EP4) umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 5734 PTGER4 prostaglandin E receptor 4 (subtype EP4) umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 5734 PTGER4 prostaglandin E receptor 4 (subtype EP4) umls:C0024299 Lymphoma 0.21 1 Therapeutic CTD_human 5734 PTGER4 prostaglandin E receptor 4 (subtype EP4) umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 9536 PTGES prostaglandin E synthase umls:C0020295 Hydronephrosis 0.21 2 Biomarker CTD_human 9536 PTGES prostaglandin E synthase umls:C0032617 Polyuria 0.21 1 Biomarker CTD_human 80142 PTGES2 prostaglandin E synthase 2 umls:C0040136 Thyroid Neoplasms 0.21 1 Biomarker CTD_human 5737 PTGFR prostaglandin F receptor (FP) umls:C0001883 Airway Obstruction 0.21 1 Biomarker CTD_human 5739 PTGIR prostaglandin I2 (prostacyclin) receptor (IP) umls:C1319853 Asthma, Aspirin-Induced 0.21 1 Biomarker CTD_human 5739 PTGIR prostaglandin I2 (prostacyclin) receptor (IP) umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 5740 PTGIS prostaglandin I2 (prostacyclin) synthase umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 5740 PTGIS prostaglandin I2 (prostacyclin) synthase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0085129 Bronchial Hyperreactivity 0.21 1 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0021846 Intestinal Polyps 0.21 2 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 5742 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) umls:C0037316 Sleep Deprivation 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0001624 Adrenal Gland Neoplasms 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0003811 Arrhythmias, Cardiac 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0004045 Asphyxia Neonatorum 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0005967 Bone Neoplasms 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0006434 Burns 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0006625 Cachexia 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0013295 Duodenal Ulcer 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0013604 Edema 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0017612 Glaucoma, Open-Angle 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0020295 Hydronephrosis 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0020452 Hyperemia 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0022665 Kidney Neoplasms 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0023893 Liver Cirrhosis, Experimental 0.21 2 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0600467 Neurogenic Inflammation 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0031039 Pericardial Effusion 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0034013 Puberty, Precocious 0.21 1 Biomarker CTD_human 5743 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) umls:C0005694 Urinary Bladder Neck Obstruction 0.21 1 Biomarker CTD_human 5741 PTH parathyroid hormone umls:C0002871 Anemia 0.21 2 Biomarker CTD_human 5741 PTH parathyroid hormone umls:C0005942 Bone Diseases, Endocrine 0.21 1 Biomarker CTD_human 5741 PTH parathyroid hormone umls:C0005974 Bone Resorption 0.21 1 Biomarker CTD_human 5741 PTH parathyroid hormone umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 5745 PTH1R parathyroid hormone 1 receptor umls:C1838779 Eiken Skeletal Dysplasia 0.21 0 Biomarker CTD_human 5745 PTH1R parathyroid hormone 1 receptor umls:C0020502 Hyperparathyroidism 0.21 1 Biomarker CTD_human 5745 PTH1R parathyroid hormone 1 receptor umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 5745 PTH1R parathyroid hormone 1 receptor umls:C0035579 Rickets 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0005974 Bone Resorption 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0016508 Foot Deformities, Congenital 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0018566 Hand Deformities, Congenital 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0221204 Osteolysis 0.21 1 Biomarker CTD_human 5744 PTHLH parathyroid hormone-like hormone umls:C0038833 Superior Vena Cava Syndrome 0.21 1 Biomarker CTD_human 5747 PTK2 protein tyrosine kinase 2 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 5747 PTK2 protein tyrosine kinase 2 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 5757 PTMA prothymosin, alpha umls:C0015695 Fatty Liver 0.21 1 Therapeutic CTD_human 5757 PTMA prothymosin, alpha umls:C0024121 Lung Neoplasms 0.21 1 Therapeutic CTD_human 5764 PTN pleiotrophin umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5764 PTN pleiotrophin umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5765 PTOS1 ptosis, congenital 1 (autosomal dominant) umls:C1867438 Ptosis, Hereditary Congenital 1 0.21 0 Biomarker CTD_human 54115 PTOS2 Ptosis, hereditary congenital 2 umls:C1846128 Ptosis, Hereditary Congenital 2 0.21 0 Biomarker CTD_human 53635 PTOV1 prostate tumor overexpressed 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 53635 PTOV1 prostate tumor overexpressed 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7803 PTP4A1 protein tyrosine phosphatase type IVA, member 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9200 HACD1 3-hydroxyacyl-CoA dehydratase 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 5770 PTPN1 protein tyrosine phosphatase, non-receptor type 1 umls:C0025063 Mediastinal Neoplasms 0.21 1 Biomarker CTD_human 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0015306 Exostoses, Multiple Hereditary 0.21 1 Biomarker CTD_human 5771 PTPN2 protein tyrosine phosphatase, non-receptor type 2 umls:C0023492 Leukemia, T-Cell 0.21 1 Biomarker CTD_human 26191 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 84867 PTPN5 protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 5777 PTPN6 protein tyrosine phosphatase, non-receptor type 6 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 5777 PTPN6 protein tyrosine phosphatase, non-receptor type 6 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 5777 PTPN6 protein tyrosine phosphatase, non-receptor type 6 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 5786 PTPRA protein tyrosine phosphatase, receptor type, A umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5788 PTPRC protein tyrosine phosphatase, receptor type, C umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5788 PTPRC protein tyrosine phosphatase, receptor type, C umls:C0035309 Retinal Diseases 0.21 1 Biomarker CTD_human 5789 PTPRD protein tyrosine phosphatase, receptor type, D umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5789 PTPRD protein tyrosine phosphatase, receptor type, D umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 5791 PTPRE protein tyrosine phosphatase, receptor type, E umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5792 PTPRF protein tyrosine phosphatase, receptor type, F umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5792 PTPRF protein tyrosine phosphatase, receptor type, F umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5796 PTPRK protein tyrosine phosphatase, receptor type, K umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5799 PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5800 PTPRO protein tyrosine phosphatase, receptor type, O umls:C0023903 Liver Neoplasms 0.21 2 Biomarker CTD_human 5800 PTPRO protein tyrosine phosphatase, receptor type, O umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 5803 PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 umls:C0079487 Helicobacter Infections 0.21 0 Biomarker CTD_human 284119 PTRF polymerase I and transcript release factor umls:C0268583 Methylmalonic acidemia 0.21 1 Biomarker CTD_human 284119 PTRF polymerase I and transcript release factor umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 51651 PTRH2 peptidyl-tRNA hydrolase 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 9232 PTTG1 pituitary tumor-transforming 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9232 PTTG1 pituitary tumor-transforming 1 umls:C1527336 Sjogren's Syndrome 0.21 1 Biomarker CTD_human 5806 PTX3 pentraxin 3, long umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 5806 PTX3 pentraxin 3, long umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 5806 PTX3 pentraxin 3, long umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 22827 PUF60 poly-U binding splicing factor 60KDa umls:C0025500 Mesothelioma 0.21 1 Therapeutic CTD_human 22827 PUF60 poly-U binding splicing factor 60KDa umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 22827 PUF60 poly-U binding splicing factor 60KDa umls:C0027659 Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 7945 PUJO pelviureteric junction obstruction umls:C1840451 Multicystic renal dysplasia, bilateral 0.21 0 Biomarker CTD_human 80324 PUS1 pseudouridylate synthase 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 80324 PUS1 pseudouridylate synthase 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5816 PVALB parvalbumin umls:C0033975 Psychotic Disorders 0.21 1 Biomarker CTD_human 5816 PVALB parvalbumin umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 100302681 PVNH3 Periventricular nodular heterotopia 3 umls:C1842562 Heterotopia, Periventricular, associated with Chromosome 5p Anomalies 0.21 0 Biomarker CTD_human 100302682 PVNH5 Periventricular nodular heterotopia 5 umls:C2752071 Heterotopia, Periventricular, Associated With Chromosome 5q Deletion 0.21 0 Biomarker CTD_human 100312952 PVOP1 Pelvic organ prolapse, susceptibility to, 1 umls:C0877015 Pelvic Organ Prolapse 0.21 0 Biomarker CTD_human 100312955 PVOP2 Pelvic organ prolapse, susceptibility to, 2 umls:C0877015 Pelvic Organ Prolapse 0.21 0 Biomarker CTD_human 5818 PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) umls:C0019372 Herpesviridae Infections 0.21 1 Biomarker CTD_human 5818 PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) umls:C0796139 Rosselli-Gulienetti Syndrome 0.21 0 Biomarker CTD_human 170394 PWWP2B PWWP domain containing 2B umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7837 PXDN peroxidasin umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 5829 PXN paxillin umls:C0025205 Melanoma, Experimental 0.21 1 Biomarker CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0598608 Hyperhomocysteinemia 0.21 1 Biomarker CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 29108 PYCARD PYD and CARD domain containing umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 5831 PYCR1 pyrroline-5-carboxylate reductase 1 umls:C0033300 Progeria 0.21 1 Biomarker CTD_human 5834 PYGB phosphorylase, glycogen; brain umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 5834 PYGB phosphorylase, glycogen; brain umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5834 PYGB phosphorylase, glycogen; brain umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 5836 PYGL phosphorylase, glycogen, liver umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 5837 PYGM phosphorylase, glycogen, muscle umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 5697 PYY peptide YY umls:C0002395 Alzheimer Disease 0.21 1 Biomarker CTD_human 5697 PYY peptide YY umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 5858 PZP pregnancy-zone protein umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 5859 QARS glutaminyl-tRNA synthetase umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 25797 QPCT glutaminyl-peptide cyclotransferase umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 25797 QPCT glutaminyl-peptide cyclotransferase umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21 1 Biomarker CTD_human 5768 QSOX1 quiescin Q6 sulfhydryl oxidase 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 100379215 QTV QT interval, variation in umls:C1857828 QT INTERVAL, VARIATION IN 0.21 0 Biomarker CTD_human 8766 RAB11A RAB11A, member RAS oncogene family umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 9230 RAB11B RAB11B, member RAS oncogene family umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 22841 RAB11FIP2 RAB11 family interacting protein 2 (class I) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 26056 RAB11FIP5 RAB11 family interacting protein 5 (class I) umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 201475 RAB12 RAB12, member RAS oncogene family umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 81876 RAB1B RAB1B, member RAS oncogene family umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 5873 RAB27A RAB27A, member RAS oncogene family umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5862 RAB2A RAB2A, member RAS oncogene family umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 10981 RAB32 RAB32, member RAS oncogene family umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 10981 RAB32 RAB32, member RAS oncogene family umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10981 RAB32 RAB32, member RAS oncogene family umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 326624 RAB37 RAB37, member RAS oncogene family umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 116442 RAB39B RAB39B, member RAS oncogene family umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 116442 RAB39B RAB39B, member RAS oncogene family umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 116442 RAB39B RAB39B, member RAS oncogene family umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 282808 RAB40AL RAB40A, member RAS oncogene family-like umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 282808 RAB40AL RAB40A, member RAS oncogene family-like umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 282808 RAB40AL RAB40A, member RAS oncogene family-like umls:C0282631 Facies 0.21 1 Biomarker CTD_human 282808 RAB40AL RAB40A, member RAS oncogene family-like umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 282808 RAB40AL RAB40A, member RAS oncogene family-like umls:C1136249 Mental Retardation, X-Linked 0.21 1 Biomarker CTD_human 53916 RAB4B RAB4B, member RAS oncogene family umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5868 RAB5A RAB5A, member RAS oncogene family umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 7879 RAB7A RAB7A, member RAS oncogene family umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 338382 RAB7B RAB7B, member RAS oncogene family umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 338382 RAB7B RAB7B, member RAS oncogene family umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 4218 RAB8A RAB8A, member RAS oncogene family umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 51762 RAB8B RAB8B, member RAS oncogene family umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55684 RABL6 RAB, member RAS oncogene family-like 6 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 5879 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) umls:C0007193 Cardiomyopathy, Dilated 0.21 1 Biomarker CTD_human 5879 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 5879 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 5880 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 5880 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 29127 RACGAP1 Rac GTPase activating protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 29127 RACGAP1 Rac GTPase activating protein 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 5885 RAD21 RAD21 homolog (S. pombe) umls:C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 0.21 1 Biomarker CTD_human 5885 RAD21 RAD21 homolog (S. pombe) umls:C0023470 Leukemia, Myeloid 0.21 1 Biomarker CTD_human 5886 RAD23A RAD23 homolog A (S. cerevisiae) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5886 RAD23A RAD23 homolog A (S. cerevisiae) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5887 RAD23B RAD23 homolog B (S. cerevisiae) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 5887 RAD23B RAD23 homolog B (S. cerevisiae) umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 5887 RAD23B RAD23 homolog B (S. cerevisiae) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5888 RAD51 RAD51 recombinase umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 5888 RAD51 RAD51 recombinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5890 RAD51B RAD51 paralog B umls:C0242788 Breast Neoplasms, Male 0.21 1 Biomarker CTD_human 5890 RAD51B RAD51 paralog B umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 5889 RAD51C RAD51 paralog C umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5892 RAD51D RAD51 paralog D umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 154064 RAET1L retinoic acid early transcript 1L umls:C0002171 Alopecia Areata 0.21 1 Biomarker CTD_human 5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 5896 RAG1 recombination activating gene 1 umls:C2931884 Reticuloendotheliosis, familial, with eosinophilia 0.21 0 Biomarker CTD_human 5896 RAG1 recombination activating gene 1 umls:C1832322 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 0.21 0 Biomarker CTD_human 5897 RAG2 recombination activating gene 2 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 5897 RAG2 recombination activating gene 2 umls:C2931884 Reticuloendotheliosis, familial, with eosinophilia 0.21 0 Biomarker CTD_human 10743 RAI1 retinoic acid induced 1 umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 10743 RAI1 retinoic acid induced 1 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 10743 RAI1 retinoic acid induced 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 10743 RAI1 retinoic acid induced 1 umls:C0700201 Dyssomnias 0.21 1 Biomarker CTD_human 10743 RAI1 retinoic acid induced 1 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 10743 RAI1 retinoic acid induced 1 umls:C0525041 Neurobehavioral Manifestations 0.21 1 Biomarker CTD_human 10743 RAI1 retinoic acid induced 1 umls:C0085631 Psychomotor Agitation 0.21 1 Biomarker CTD_human 10928 RALBP1 ralA binding protein 1 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 10928 RALBP1 ralA binding protein 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 10928 RALBP1 ralA binding protein 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5900 RALGDS ral guanine nucleotide dissociation stimulator umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 22913 RALY RALY heterogeneous nuclear ribonucleoprotein umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 138046 RALYL RALY RNA binding protein-like umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 10266 RAMP2 receptor (G protein-coupled) activity modifying protein 2 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 10266 RAMP2 receptor (G protein-coupled) activity modifying protein 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 5901 RAN RAN, member RAS oncogene family umls:C0007097 Carcinoma 0.21 2 Biomarker CTD_human 5901 RAN RAN, member RAS oncogene family umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 5901 RAN RAN, member RAS oncogene family umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 5901 RAN RAN, member RAS oncogene family umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 5901 RAN RAN, member RAS oncogene family umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 5901 RAN RAN, member RAS oncogene family umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 5902 RANBP1 RAN binding protein 1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 57610 RANBP10 RAN binding protein 10 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 57610 RANBP10 RAN binding protein 10 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5903 RANBP2 RAN binding protein 2 umls:C0018199 Granuloma, Plasma Cell 0.21 1 Biomarker CTD_human 5909 RAP1GAP RAP1 GTPase activating protein umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 5909 RAP1GAP RAP1 GTPase activating protein umls:C0023487 Leukemia, Promyelocytic, Acute 0.21 1 Biomarker CTD_human 5911 RAP2A RAP2A, member of RAS oncogene family umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 10411 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 10411 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 umls:C0035585 Rickettsia Infections 0.21 1 Biomarker CTD_human 10411 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 umls:C0162700 Tick-Borne Diseases 0.21 1 Biomarker CTD_human 9771 RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 65059 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5913 RAPSN receptor-associated protein of the synapse umls:C0004364 Autoimmune Diseases 0.21 1 Biomarker CTD_human 5913 RAPSN receptor-associated protein of the synapse umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 5914 RARA retinoic acid receptor, alpha umls:C0085183 Neoplasms, Second Primary 0.21 1 Biomarker CTD_human 5914 RARA retinoic acid receptor, alpha umls:C0149940 Sciatic Neuropathy 0.21 1 Biomarker CTD_human 5915 RARB retinoic acid receptor, beta umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 5915 RARB retinoic acid receptor, beta umls:C0149940 Sciatic Neuropathy 0.21 1 Biomarker CTD_human 5915 RARB retinoic acid receptor, beta umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 5916 RARG retinoic acid receptor, gamma umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 5916 RARG retinoic acid receptor, gamma umls:C0151491 Musculoskeletal Abnormalities 0.21 1 Biomarker CTD_human 5918 RARRES1 retinoic acid receptor responder (tazarotene induced) 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5917 RARS arginyl-tRNA synthetase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C0007117 Carcinoma, Basal Cell 0.21 0 Biomarker CTD_human 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 8437 RASAL1 RAS protein activator like 1 (GAP1 like) umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 51655 RASD1 RAS, dexamethasone-induced 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5923 RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 umls:C0013386 Dyskinesia, Drug-Induced 0.21 1 Therapeutic CTD_human 5923 RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 umls:C0034951 Refractive Errors 0.21 1 Biomarker CTD_human 5924 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 5924 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5924 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 10125 RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 10125 RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 10125 RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 91608 RASL10B RAS-like, family 10, member B umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 387496 RASL11A RAS-like, family 11, member A umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Therapeutic CTD_human 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0021390 Inflammatory Bowel Diseases 0.21 1 Biomarker CTD_human 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0036323 Schistosomiasis 0.21 1 Biomarker CTD_human 11186 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 umls:C0005686 Urinary Bladder Diseases 0.21 1 Biomarker CTD_human 9770 RASSF2 Ras association (RalGDS/AF-6) domain family member 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9770 RASSF2 Ras association (RalGDS/AF-6) domain family member 2 umls:C0024232 Lymphatic Metastasis 0.21 1 Biomarker CTD_human 9770 RASSF2 Ras association (RalGDS/AF-6) domain family member 2 umls:C0027439 Nasopharyngeal Neoplasms 0.21 1 Biomarker CTD_human 11228 RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 30062 RAX retina and anterior neural fold homeobox umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 30062 RAX retina and anterior neural fold homeobox umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 5925 RB1 retinoblastoma 1 umls:C0001624 Adrenal Gland Neoplasms 0.21 1 Biomarker CTD_human 5925 RB1 retinoblastoma 1 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 5925 RB1 retinoblastoma 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5925 RB1 retinoblastoma 1 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5925 RB1 retinoblastoma 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5925 RB1 retinoblastoma 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 9821 RB1CC1 RB1-inducible coiled-coil 1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 10616 RBCK1 RanBP-type and C3HC4-type zinc finger containing 1 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 23543 RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 23543 RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 5934 RBL2 retinoblastoma-like 2 umls:C0919267 Ovarian Neoplasms 0.21 1 Therapeutic CTD_human 84991 RBM17 RNA binding motif protein 17 umls:C0087012 Spinocerebellar Ataxias 0.21 1 Biomarker CTD_human 10179 RBM7 RNA binding motif protein 7 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 5940 RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1 umls:C1839071 Spermatogenic Failure, Nonobstructive, Y-Linked 0.21 0 Biomarker CTD_human 159162 RBMY2FP RNA binding motif protein, Y-linked, family 2, member F pseudogene umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5947 RBP1 retinol binding protein 1, cellular umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 5947 RBP1 retinol binding protein 1, cellular umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5947 RBP1 retinol binding protein 1, cellular umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5947 RBP1 retinol binding protein 1, cellular umls:C0038356 Stomach Neoplasms 0.21 2 Biomarker CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0152455 Keratomalacia 0.21 1 Biomarker CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0023896 Liver Diseases, Alcoholic 0.21 1 Biomarker CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 5950 RBP4 retinol binding protein 4, plasma umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 3516 RBPJ recombination signal binding protein for immunoglobulin kappa J region umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1827 RCAN1 regulator of calcineurin 1 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 1827 RCAN1 regulator of calcineurin 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 55213 RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 umls:C0001973 Alcoholism 0.21 0 Biomarker CTD_human 5953 RCD1 retinal cone dystrophy 1 umls:C1867326 Retinal Cone Dystrophy 1 0.21 0 Biomarker CTD_human 100462676 RCHTS Roifman-Chitayat syndrome umls:C2750068 Roifman-Chitayat Syndrome 0.21 0 Biomarker CTD_human 619468 RCM2 cardiomyopathy, familial restrictive, 2 umls:C1865071 Cardiomyopathy, Familial Restrictive, 2 0.21 0 Biomarker CTD_human 5954 RCN1 reticulocalbin 1, EF-hand calcium binding domain umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 5954 RCN1 reticulocalbin 1, EF-hand calcium binding domain umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 5954 RCN1 reticulocalbin 1, EF-hand calcium binding domain umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 57333 RCN3 reticulocalbin 3, EF-hand calcium binding domain umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 23186 RCOR1 REST corepressor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 145226 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) umls:C1858677 Leber Congenital Amaurosis 3 0.21 0 Biomarker CTD_human 201299 RDM1 RAD52 motif containing 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 5962 RDX radixin umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 9985 REC8 REC8 meiotic recombination protein umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 9985 REC8 REC8 meiotic recombination protein umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8434 RECK reversion-inducing-cysteine-rich protein with kazal motifs umls:C0027626 Neoplasm Invasiveness 0.21 1 Therapeutic CTD_human 5965 RECQL RecQ helicase-like umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5966 REL v-rel avian reticuloendotheliosis viral oncogene homolog umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 5966 REL v-rel avian reticuloendotheliosis viral oncogene homolog umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0007786 Brain Ischemia 0.21 1 Therapeutic CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0008370 Cholestasis 0.21 2 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0010692 Cystitis 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0023891 Liver Cirrhosis, Alcoholic 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5970 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 5971 RELB v-rel avian reticuloendotheliosis viral oncogene homolog B umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 5649 RELN reelin umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 5649 RELN reelin umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 5649 RELN reelin umls:C1269683 Depressive Disorder, Major 0.21 1 Biomarker CTD_human 5972 REN renin umls:C0001925 Albuminuria 0.21 2 Biomarker CTD_human 5972 REN renin umls:C0242528 Azotemia 0.21 1 Biomarker CTD_human 5972 REN renin umls:C0018800 Cardiomegaly 0.21 2 Biomarker CTD_human 5972 REN renin umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 5972 REN renin umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 5972 REN renin umls:C0015934 Fetal Growth Retardation 0.21 1 Biomarker CTD_human 5972 REN renin umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 5972 REN renin umls:C0019080 Hemorrhage 0.21 1 Biomarker CTD_human 5972 REN renin umls:C0020649 Hypotension 0.21 3 Biomarker, Therapeutic CTD_human 5972 REN renin umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 5972 REN renin umls:C0027720 Nephrosis 0.21 2 Biomarker CTD_human 5972 REN renin umls:C0033687 Proteinuria 0.21 2 Biomarker CTD_human 5972 REN renin umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 9185 REPS2 RALBP1 associated Eps domain containing 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5979 RET ret proto-oncogene umls:C0740340 Amyloidosis, Familial 0.21 1 Biomarker CTD_human 5979 RET ret proto-oncogene umls:C0006413 Burkitt Lymphoma 0.21 1 Biomarker CTD_human 5979 RET ret proto-oncogene umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 5979 RET ret proto-oncogene umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 56729 RETN resistin umls:C0019337 Heroin Dependence 0.21 1 Biomarker CTD_human 54884 RETSAT retinol saturase (all-trans-retinol 13,14-reductase) umls:C0796154 Simpson-Golabi-Behmel syndrome 0.21 1 Biomarker CTD_human 57455 REXO1 REX1, RNA exonuclease 1 homolog (S. cerevisiae) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 5981 RFC1 replication factor C (activator 1) 1, 145kDa umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 59331 RFH1 Renal failure, progressive, with hypertension umls:C0403443 Renal Failure, Progressive, with Hypertension 0.21 0 Biomarker CTD_human 55312 RFK riboflavin kinase umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 57788 RFMN Roifman syndrome umls:C1846059 Roifman syndrome 0.21 0 Biomarker CTD_human 5986 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 10737 RFPL3S RFPL3 antisense umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 64326 RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 55159 RFWD3 ring finger and WD repeat domain 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5991 RFX3 regulatory factor X, 3 (influences HLA class II expression) umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 5991 RFX3 regulatory factor X, 3 (influences HLA class II expression) umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 222546 RFX6 regulatory factor X, 6 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 28984 RGCC regulator of cell cycle umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 285704 RGMB repulsive guidance molecule family member b umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 9104 RGN regucalcin umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 9104 RGN regucalcin umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 9104 RGN regucalcin umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 5996 RGS1 regulator of G-protein signaling 1 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 5996 RGS1 regulator of G-protein signaling 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 5996 RGS1 regulator of G-protein signaling 1 umls:C0029463 Osteosarcoma 0.21 1 Biomarker CTD_human 5996 RGS1 regulator of G-protein signaling 1 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6002 RGS12 regulator of G-protein signaling 12 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 26575 RGS17 regulator of G-protein signaling 17 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 5997 RGS2 regulator of G-protein signaling 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5997 RGS2 regulator of G-protein signaling 2 umls:C0030569 Parkinson Disease, Secondary 0.21 1 Biomarker CTD_human 5997 RGS2 regulator of G-protein signaling 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5999 RGS4 regulator of G-protein signaling 4 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 5999 RGS4 regulator of G-protein signaling 4 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6000 RGS7 regulator of G-protein signaling 7 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 8787 RGS9 regulator of G-protein signaling 9 umls:C0013386 Dyskinesia, Drug-Induced 0.21 2 Biomarker, Therapeutic CTD_human 8787 RGS9 regulator of G-protein signaling 9 umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 25807 RHBDD3 rhomboid domain containing 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 6006 RHCE Rh blood group, CcEe antigens umls:C0002881 Anemia, Hemolytic, Congenital 0.21 1 Biomarker CTD_human 6007 RHD Rh blood group, D antigen umls:C0002881 Anemia, Hemolytic, Congenital 0.21 1 Biomarker CTD_human 100034704 RHDNS1 Renal hypodysplasia, nonsyndromic, 1 umls:C1835826 Renal Hypodysplasia, Nonsyndromic, 1 0.21 0 Biomarker CTD_human 6009 RHEB Ras homolog enriched in brain umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 387 RHOA ras homolog family member A umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 387 RHOA ras homolog family member A umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 387 RHOA ras homolog family member A umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 389 RHOC ras homolog family member C umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 57381 RHOJ ras homolog family member J umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 57381 RHOJ ras homolog family member J umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 114822 RHPN1 rhophilin, Rho GTPase binding protein 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 26150 RIBC2 RIB43A domain with coiled-coils 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6012 RIEG2 Rieger syndrome 2 umls:C1832229 Rieger syndrome 2 0.21 0 Biomarker CTD_human 9699 RIMS2 regulating synaptic membrane exocytosis 2 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 11035 RIPK3 receptor-interacting serine-threonine kinase 3 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 11035 RIPK3 receptor-interacting serine-threonine kinase 3 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 100528027 RJBS Rajab syndrome umls:C3150910 RAJAB SYNDROME 0.21 0 Biomarker CTD_human 6017 RLBP1 retinaldehyde binding protein 1 umls:C0015398 Eye Diseases, Hereditary 0.21 1 Biomarker CTD_human 51132 RLIM ring finger protein, LIM domain interacting umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6013 RLN1 relaxin 1 umls:C0020564 Hypertrophy 0.21 1 Biomarker CTD_human 117579 RLN3 relaxin 3 umls:C0020507 Hyperplasia 0.21 1 Therapeutic CTD_human 117579 RLN3 relaxin 3 umls:C0151744 Myocardial Ischemia 0.21 1 Therapeutic CTD_human 100302561 RLS7 Restless legs syndrome 7 umls:C0035258 Restless Legs Syndrome 0.21 0 Biomarker CTD_human 6022 RMD1 rippling muscle disease 1 umls:C1838254 Rippling muscle disease, 1 0.21 0 Biomarker CTD_human 196475 RMST rhabdomyosarcoma 2 associated transcript (non-protein coding) umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 6036 RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6037 RNASE3 ribonuclease, RNase A family, 3 umls:C0085423 Gram-Negative Bacterial Infections 0.21 1 Therapeutic CTD_human 6037 RNASE3 ribonuclease, RNase A family, 3 umls:C0085426 Gram-Positive Bacterial Infections 0.21 1 Therapeutic CTD_human 6038 RNASE4 ribonuclease, RNase A family, 4 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 6038 RNASE4 ribonuclease, RNase A family, 4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6039 RNASE6 ribonuclease, RNase A family, k6 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6039 RNASE6 ribonuclease, RNase A family, k6 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 6039 RNASE6 ribonuclease, RNase A family, k6 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 8635 RNASET2 ribonuclease T2 umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 55819 RNF130 ring finger protein 130 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 51444 RNF138 ring finger protein 138, E3 ubiquitin protein ligase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 221687 RNF182 ring finger protein 182 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 221687 RNF182 ring finger protein 182 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 80196 RNF34 ring finger protein 34, E3 ubiquitin protein ligase umls:C0009375 Colonic Neoplasms 0.21 1 Therapeutic CTD_human 54894 RNF43 ring finger protein 43 umls:C0206698 Cholangiocarcinoma 0.21 1 Biomarker CTD_human 54894 RNF43 ring finger protein 43 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 54894 RNF43 ring finger protein 43 umls:C0023897 Liver Diseases, Parasitic 0.21 1 Biomarker CTD_human 54894 RNF43 ring finger protein 43 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6049 RNF6 ring finger protein (C3H2C3 type) 6 umls:C0014859 Esophageal Neoplasms 0.21 0 Biomarker CTD_human 9025 RNF8 ring finger protein 8, E3 ubiquitin protein ligase umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 4549 RNR1 s-rRNA umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 4549 RNR1 s-rRNA umls:C0040264 Tinnitus 0.21 1 Biomarker CTD_human 6091 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 6092 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) umls:C0206698 Cholangiocarcinoma 0.21 1 Biomarker CTD_human 6092 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) umls:C0023897 Liver Diseases, Parasitic 0.21 1 Biomarker CTD_human 6093 ROCK1 Rho-associated, coiled-coil containing protein kinase 1 umls:C0086468 Prenatal Injuries 0.21 1 Biomarker CTD_human 9475 ROCK2 Rho-associated, coiled-coil containing protein kinase 2 umls:C0086468 Prenatal Injuries 0.21 1 Biomarker CTD_human 6095 RORA RAR-related orphan receptor A umls:C0004352 Autistic Disorder 0.21 2 Biomarker CTD_human 6095 RORA RAR-related orphan receptor A umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6095 RORA RAR-related orphan receptor A umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6096 RORB RAR-related orphan receptor B umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 6097 RORC RAR-related orphan receptor C umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 6098 ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 6101 RP1 retinitis pigmentosa 1 (autosomal dominant) umls:C0020480 Hyperlipoproteinemia Type IV 0.21 0 Biomarker CTD_human 6102 RP2 retinitis pigmentosa 2 (X-linked recessive) umls:C1845136 Chromosome Xp11.3 Deletion Syndrome 0.21 0 Biomarker CTD_human 6102 RP2 retinitis pigmentosa 2 (X-linked recessive) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6114 RP22 retinitis pigmentosa 22 (autosomal recessive) umls:C0035334 Retinitis Pigmentosa 0.21 0 Biomarker CTD_human 6116 RP24 retinitis pigmentosa 24 (X-linked recessive) umls:C0035334 Retinitis Pigmentosa 0.21 0 Biomarker CTD_human 54110 RP29 retinitis pigmentosa 29 (autosomal recessive) umls:C2677325 Retinitis Pigmentosa 29 0.21 0 Biomarker CTD_human 641433 RP32 retinitis pigmentosa 32 (autosomal recessive) umls:C1835927 Retinitis Pigmentosa 32 0.21 0 Biomarker CTD_human 777642 RP34 retinitis pigmentosa 34 (X-linked recessive) umls:C1845104 Retinitis Pigmentosa 34 0.21 0 Biomarker CTD_human 6104 RP6 retinitis pigmentosa 6 (X-linked recessive) umls:C1839368 Retinitis Pigmentosa 6 0.21 0 Biomarker CTD_human 6117 RPA1 replication protein A1, 70kDa umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 6120 RPE ribulose-5-phosphate-3-epimerase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6121 RPE65 retinal pigment epithelium-specific protein 65kDa umls:C0015398 Eye Diseases, Hereditary 0.21 1 Therapeutic CTD_human 6103 RPGR retinitis pigmentosa GTPase regulator umls:C1384666 Hearing Loss 0.21 1 Biomarker CTD_human 6103 RPGR retinitis pigmentosa GTPase regulator umls:C0035243 Respiratory Tract Infections 0.21 1 Biomarker CTD_human 23322 RPGRIP1L RPGRIP1-like umls:C0007760 Cerebellar Diseases 0.21 2 Biomarker CTD_human 23322 RPGRIP1L RPGRIP1-like umls:C0008780 Ciliary Motility Disorders 0.21 2 Biomarker CTD_human 23322 RPGRIP1L RPGRIP1-like umls:C0015397 Eye Diseases 0.21 2 Biomarker CTD_human 9501 RPH3AL rabphilin 3A-like (without C2 domains) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 6134 RPL10 ribosomal protein L10 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6136 RPL12 ribosomal protein L12 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6137 RPL13 ribosomal protein L13 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6137 RPL13 ribosomal protein L13 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 9045 RPL14 ribosomal protein L14 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 9045 RPL14 ribosomal protein L14 umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 6138 RPL15 ribosomal protein L15 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6139 RPL17 ribosomal protein L17 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6141 RPL18 ribosomal protein L18 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6141 RPL18 ribosomal protein L18 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6147 RPL23A ribosomal protein L23a umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6147 RPL23A ribosomal protein L23a umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 6157 RPL27A ribosomal protein L27a umls:C0007758 Cerebellar Ataxia 0.21 1 Biomarker CTD_human 6157 RPL27A ribosomal protein L27a umls:C0162834 Hyperpigmentation 0.21 1 Biomarker CTD_human 6157 RPL27A ribosomal protein L27a umls:C0030312 Pancytopenia 0.21 1 Biomarker CTD_human 6158 RPL28 ribosomal protein L28 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 6122 RPL3 ribosomal protein L3 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 6122 RPL3 ribosomal protein L3 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6122 RPL3 ribosomal protein L3 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6160 RPL31 ribosomal protein L31 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6168 RPL37A ribosomal protein L37a umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6125 RPL5 ribosomal protein L5 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 6128 RPL6 ribosomal protein L6 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 6128 RPL6 ribosomal protein L6 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6128 RPL6 ribosomal protein L6 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6128 RPL6 ribosomal protein L6 umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 6185 RPN2 ribophorin II umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10557 RPP38 ribonuclease P/MRP 38kDa subunit umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 55197 RPRD1A regulation of nuclear pre-mRNA domain containing 1A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 56475 RPRM reprimo, TP53 dependent G2 arrest mediator candidate umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 56475 RPRM reprimo, TP53 dependent G2 arrest mediator candidate umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 6208 RPS14 ribosomal protein S14 umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 6208 RPS14 ribosomal protein S14 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 6208 RPS14 ribosomal protein S14 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6208 RPS14 ribosomal protein S14 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6209 RPS15 ribosomal protein S15 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6209 RPS15 ribosomal protein S15 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6223 RPS19 ribosomal protein S19 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6223 RPS19 ribosomal protein S19 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6223 RPS19 ribosomal protein S19 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6187 RPS2 ribosomal protein S2 umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 6227 RPS21 ribosomal protein S21 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6227 RPS21 ribosomal protein S21 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6231 RPS26 ribosomal protein S26 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6231 RPS26 ribosomal protein S26 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6234 RPS28 ribosomal protein S28 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 6188 RPS3 ribosomal protein S3 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 6191 RPS4X ribosomal protein S4, X-linked umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6194 RPS6 ribosomal protein S6 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6194 RPS6 ribosomal protein S6 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6194 RPS6 ribosomal protein S6 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6197 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 6197 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 6197 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 umls:C0033922 Psychomotor Disorders 0.21 1 Biomarker CTD_human 9252 RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 6198 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 umls:C0333641 Atrophy 0.21 1 Biomarker CTD_human 6198 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.21 1 Biomarker CTD_human 6198 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 6198 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 6201 RPS7 ribosomal protein S7 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6202 RPS8 ribosomal protein S8 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6202 RPS8 ribosomal protein S8 umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 6202 RPS8 ribosomal protein S8 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 3921 RPSA ribosomal protein SA umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 57521 RPTOR regulatory associated protein of MTOR, complex 1 umls:C0040336 Tobacco Use Disorder 0.21 1 Biomarker CTD_human 79051 RPY Retinitis pigmentosa, Y-linked umls:C1839079 Retinitis Pigmentosa, Y-Linked 0.21 0 Biomarker CTD_human 6236 RRAD Ras-related associated with diabetes umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6237 RRAS related RAS viral (r-ras) oncogene homolog umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 22800 RRAS2 related RAS viral (r-ras) oncogene homolog 2 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 266719 RRDX Radial ray deficiency umls:C1845717 Radial Ray Deficiency, X-Linked 0.21 0 Biomarker CTD_human 6240 RRM1 ribonucleotide reductase M1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 6240 RRM1 ribonucleotide reductase M1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6240 RRM1 ribonucleotide reductase M1 umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 6240 RRM1 ribonucleotide reductase M1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6241 RRM2 ribonucleotide reductase M2 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 6241 RRM2 ribonucleotide reductase M2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6241 RRM2 ribonucleotide reductase M2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 9136 RRP9 ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 9136 RRP9 ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 91543 RSAD2 radical S-adenosyl methionine domain containing 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 64239 RSCIS Radiation sensitivity/chromosome instability syndrome, autosomal dominant umls:C1854244 Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 0.21 0 Biomarker CTD_human 84870 RSPO3 R-spondin 3 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6251 RSU1 Ras suppressor protein 1 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 6251 RSU1 Ras suppressor protein 1 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 404685 RTE1 repressor of telomerase expression 1 umls:C0017638 Glioma 0.21 0 Biomarker CTD_human 6252 RTN1 reticulon 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 83597 RTP3 receptor (chemosensory) transporter protein 3 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 64108 RTP4 receptor (chemosensory) transporter protein 4 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 22902 RUFY3 RUN and FYVE domain containing 3 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 22902 RUFY3 RUN and FYVE domain containing 3 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 861 RUNX1 runt-related transcription factor 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 862 RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 860 RUNX2 runt-related transcription factor 2 umls:C0243057 Stomatognathic System Abnormalities 0.21 1 Biomarker CTD_human 860 RUNX2 runt-related transcription factor 2 umls:C0040427 Tooth Abnormalities 0.21 1 Biomarker CTD_human 864 RUNX3 runt-related transcription factor 3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 864 RUNX3 runt-related transcription factor 3 umls:C0033860 Psoriasis 0.21 1 Biomarker CTD_human 7937 RWS Ragweed sensitivity umls:C1867394 Ragweed Sensitivity 0.21 0 Biomarker CTD_human 6256 RXRA retinoid X receptor, alpha umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 6256 RXRA retinoid X receptor, alpha umls:C0149940 Sciatic Neuropathy 0.21 1 Biomarker CTD_human 6256 RXRA retinoid X receptor, alpha umls:C0040136 Thyroid Neoplasms 0.21 1 Biomarker CTD_human 6257 RXRB retinoid X receptor, beta umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6257 RXRB retinoid X receptor, beta umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6257 RXRB retinoid X receptor, beta umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6258 RXRG retinoid X receptor, gamma umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6259 RYK receptor-like tyrosine kinase umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 6259 RYK receptor-like tyrosine kinase umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C2930980 Malignant hyperthermia susceptibility type 1 0.21 0 Biomarker CTD_human 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C0853897 Diabetic Cardiomyopathies 0.21 1 Biomarker CTD_human 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6271 S100A1 S100 calcium binding protein A1 umls:C0751895 Vasospasm, Intracranial 0.21 1 Biomarker CTD_human 6281 S100A10 S100 calcium binding protein A10 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 6281 S100A10 S100 calcium binding protein A10 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 6283 S100A12 S100 calcium binding protein A12 umls:C0026636 Mouth Diseases 0.21 1 Biomarker CTD_human 6275 S100A4 S100 calcium binding protein A4 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 6275 S100A4 S100 calcium binding protein A4 umls:C0022116 Ischemia 0.21 1 Biomarker CTD_human 6275 S100A4 S100 calcium binding protein A4 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 6275 S100A4 S100 calcium binding protein A4 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 6275 S100A4 S100 calcium binding protein A4 umls:C0751895 Vasospasm, Intracranial 0.21 1 Biomarker CTD_human 6277 S100A6 S100 calcium binding protein A6 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 6277 S100A6 S100 calcium binding protein A6 umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 6277 S100A6 S100 calcium binding protein A6 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6277 S100A6 S100 calcium binding protein A6 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6277 S100A6 S100 calcium binding protein A6 umls:C0751895 Vasospasm, Intracranial 0.21 1 Biomarker CTD_human 338324 S100A7A S100 calcium binding protein A7A umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6279 S100A8 S100 calcium binding protein A8 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 6279 S100A8 S100 calcium binding protein A8 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6280 S100A9 S100 calcium binding protein A9 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 6280 S100A9 S100 calcium binding protein A9 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 6285 S100B S100 calcium binding protein B umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 6285 S100B S100 calcium binding protein B umls:C0751895 Vasospasm, Intracranial 0.21 1 Biomarker CTD_human 6286 S100P S100 calcium binding protein P umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1901 S1PR1 sphingosine-1-phosphate receptor 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 1901 S1PR1 sphingosine-1-phosphate receptor 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1901 S1PR1 sphingosine-1-phosphate receptor 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 9294 S1PR2 sphingosine-1-phosphate receptor 2 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 9294 S1PR2 sphingosine-1-phosphate receptor 2 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 8698 S1PR4 sphingosine-1-phosphate receptor 4 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 53637 S1PR5 sphingosine-1-phosphate receptor 5 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 6288 SAA1 serum amyloid A1 umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 6288 SAA1 serum amyloid A1 umls:C0011616 Dermatitis, Contact 0.21 1 Biomarker CTD_human 29901 SAC3D1 SAC3 domain containing 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 26278 SACS sacsin molecular chaperone umls:C0751778 Myoclonic Epilepsies, Progressive 0.21 1 Biomarker CTD_human 6295 SAG S-antigen; retina and pineal gland (arrestin) umls:C0339535 Night blindness, congenital stationary 0.21 1 Biomarker CTD_human 6295 SAG S-antigen; retina and pineal gland (arrestin) umls:C0042164 Uveitis 0.21 1 Biomarker CTD_human 27164 SALL3 spalt-like transcription factor 3 umls:C0006413 Burkitt Lymphoma 0.21 1 Biomarker CTD_human 27164 SALL3 spalt-like transcription factor 3 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 57167 SALL4 spalt-like transcription factor 4 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 23034 SAMD4A sterile alpha motif domain containing 4A umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 54809 SAMD9 sterile alpha motif domain containing 9 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 25939 SAMHD1 SAM domain and HD domain 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 64092 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 29115 SAP30BP SAP30 binding protein umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 79685 SAP30L SAP30-like umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 1757 SARDH sarcosine dehydrogenase umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 6303 SAT1 spermidine/spermine N1-acetyltransferase 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 6303 SAT1 spermidine/spermine N1-acetyltransferase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23314 SATB2 SATB homeobox 2 umls:C1970095 Cleft Palate, Isolated, And Mental Retardation 0.21 0 Biomarker CTD_human 23314 SATB2 SATB homeobox 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 23314 SATB2 SATB homeobox 2 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 114610 SAX1 spastic ataxia 1 (autosomal dominant) umls:C1970107 Ataxia, Spastic, 1, Autosomal Dominant 0.21 0 Biomarker CTD_human 55206 SBNO1 strawberry notch homolog 1 (Drosophila) umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 6309 SC5D sterol-C5-desaturase umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 6309 SC5D sterol-C5-desaturase umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 94008 SCA18 spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) umls:C1843884 Sensorimotor neuropathy with ataxia, autosomal dominant 0.21 0 Biomarker CTD_human 407973 SCA20 spinocerebellar ataxia 20 umls:C1837541 Spinocerebellar ataxia 20 0.21 0 Biomarker CTD_human 170545 SCA21 spinocerebellar ataxia 21 umls:C1843891 Spinocerebellar ataxia 21 0.21 0 Biomarker CTD_human 338435 SCA25 spinocerebellar ataxia 25 umls:C1837518 Spinocerebellar ataxia 25 0.21 0 Biomarker CTD_human 408221 SCA26 spinocerebellar ataxia 26 umls:C1836395 Spinocerebellar ataxia 26 0.21 0 Biomarker CTD_human 100359393 SCA30 spinocerebellar ataxia 30 umls:C2936793 Spinocerebellar ataxia 30 0.21 0 Biomarker CTD_human 140451 SCA9 spinocerebellar ataxia 9 umls:C0087012 Spinocerebellar Ataxias 0.21 0 Biomarker CTD_human 22937 SCAP SREBF chaperone umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 49855 SCAPER S-phase cyclin A-associated protein in the ER umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 1165 SCAR2 spinocerebellar ataxia, autosomal recessive 2 umls:C1859298 Spinocerebellar Ataxia, Autosomal Recessive 2 0.21 0 Biomarker CTD_human 85502 SCAR3 spinocerebellar ataxia, autosomal recessive 3 umls:C1849094 Spinocerebellar ataxia, autosomal recessive 3 0.21 0 Biomarker CTD_human 51435 SCARA3 scavenger receptor class A, member 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0016427 Follicular Cyst 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C1853096 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 0.21 0 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0022661 Kidney Failure, Chronic 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0024809 Marijuana Abuse 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 949 SCARB1 scavenger receptor class B, member 1 umls:C0031391 Phencyclidine Abuse 0.21 1 Biomarker CTD_human 91179 SCARF2 scavenger receptor class F, member 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 260415 SCASI spinocerebellar ataxia with saccadic intrusions umls:C1846492 Spinocerebellar ataxia, autosomal recessive 4 0.21 0 Biomarker CTD_human 727714 SCAX2 spinocerebellar ataxia, X-linked 2 umls:C1844885 Spinocerebellar ataxia, X-linked, 2 0.21 0 Biomarker CTD_human 727715 SCAX3 spinocerebellar ataxia, X-linked 3 umls:C1844936 Spinocerebellar ataxia, X-linked, 3 0.21 0 Biomarker CTD_human 727716 SCAX4 spinocerebellar ataxia, X-linked 4 umls:C1844933 Spinocerebellar ataxia, X-linked, 4 0.21 0 Biomarker CTD_human 100188768 SCAX5 Spinocerebellar ataxia, X-linked 5 umls:C2678048 Spinocerebellar Ataxia, X-Linked 5 0.21 0 Biomarker CTD_human 6319 SCD stearoyl-CoA desaturase (delta-9-desaturase) umls:C0339143 Graves Ophthalmopathy 0.21 1 Biomarker CTD_human 6319 SCD stearoyl-CoA desaturase (delta-9-desaturase) umls:C0023794 Lipidoses 0.21 1 Biomarker CTD_human 6319 SCD stearoyl-CoA desaturase (delta-9-desaturase) umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 6319 SCD stearoyl-CoA desaturase (delta-9-desaturase) umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 6319 SCD stearoyl-CoA desaturase (delta-9-desaturase) umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 7356 SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) umls:C0035204 Respiration Disorders 0.21 1 Biomarker CTD_human 92304 SCGB3A1 secretoglobin, family 3A, member 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 386616 SCKL3 Seckel syndrome 3 umls:C1837590 Seckel Syndrome 3 0.21 0 Biomarker CTD_human 10389 SCML2 sex comb on midleg-like 2 (Drosophila) umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 6336 SCN10A sodium channel, voltage gated, type X alpha subunit umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 6336 SCN10A sodium channel, voltage gated, type X alpha subunit umls:C0042510 Ventricular Fibrillation 0.21 1 Biomarker CTD_human 11280 SCN11A sodium channel, voltage gated, type XI alpha subunit umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 6324 SCN1B sodium channel, voltage gated, type I beta subunit umls:C0038644 Sudden Infant Death 0.21 1 Biomarker CTD_human 6326 SCN2A sodium channel, voltage gated, type II alpha subunit umls:C1842382 Epilepsy, Benign Neonatal, 3 0.21 0 Biomarker CTD_human 6328 SCN3A sodium channel, voltage gated, type III alpha subunit umls:C0085417 Epilepsy, Complex Partial 0.21 1 Biomarker CTD_human 6332 SCN7A sodium channel, voltage gated, type VII alpha subunit umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C0007758 Cerebellar Ataxia 0.21 1 Biomarker CTD_human 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C0019372 Herpesviridae Infections 0.21 1 Biomarker CTD_human 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C1858673 Generalized Epilepsy With Febrile Seizures Plus, Type 2 0.21 0 Biomarker CTD_human 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C0019372 Herpesviridae Infections 0.21 1 Biomarker CTD_human 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C0024115 Lung Diseases 0.21 2 Biomarker CTD_human 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.21 1 Biomarker CTD_human 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C0032914 Pre-Eclampsia 0.21 1 Biomarker CTD_human 6337 SCNN1A sodium channel, non voltage gated 1 alpha subunit umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 6340 SCNN1G sodium channel, non voltage gated 1 gamma subunit umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 9997 SCO2 SCO2 cytochrome c oxidase assembly protein umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 9997 SCO2 SCO2 cytochrome c oxidase assembly protein umls:C0162666 Mitochondrial Encephalomyopathies 0.21 1 Biomarker CTD_human 6342 SCP2 sterol carrier protein 2 umls:C0270612 Leukoencephalopathies 0.21 1 Biomarker CTD_human 6342 SCP2 sterol carrier protein 2 umls:C0152025 Polyneuropathies 0.21 1 Biomarker CTD_human 9805 SCRN1 secernin 1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 9805 SCRN1 secernin 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6343 SCT secretin umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6343 SCT secretin umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 63944 SCZD10 schizophrenia disorder 10 (periodic catatonia) umls:C0036344 Schizophrenia, Catatonic 0.21 0 Biomarker CTD_human 404686 SCZD11 Schizophrenia susceptibility locus, chromosome 10q-related umls:C0036341 Schizophrenia 0.21 0 Biomarker CTD_human 619488 SCZD12 schizophrenia 12 umls:C0036341 Schizophrenia 0.21 0 Biomarker CTD_human 100196913 SCZD14 schizophrenia, susceptibility to, 14 umls:C0036341 Schizophrenia 0.21 0 Biomarker CTD_human 6365 SCZD3 schizophrenia disorder 3 umls:C0036341 Schizophrenia 0.21 0 Biomarker CTD_human 8400 SCZD6 schizophrenia disorder 6 umls:C0036341 Schizophrenia 0.21 0 Biomarker CTD_human 8401 SCZD7 schizophrenia disorder 7 umls:C0036341 Schizophrenia 0.21 0 Biomarker CTD_human 8806 SCZD8 schizophrenia disorder 8 umls:C0036341 Schizophrenia 0.21 0 Biomarker CTD_human 6385 SDC4 syndecan 4 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 1 Biomarker CTD_human 6386 SDCBP syndecan binding protein (syntenin) umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 10806 SDCCAG8 serologically defined colon cancer antigen 8 umls:C1691228 Kidney Diseases, Cystic 0.21 1 Biomarker CTD_human 10806 SDCCAG8 serologically defined colon cancer antigen 8 umls:C0035309 Retinal Diseases 0.21 1 Biomarker CTD_human 23753 SDF2L1 stromal cell-derived factor 2-like 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 23753 SDF2L1 stromal cell-derived factor 2-like 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6389 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 644096 SDHAF1 succinate dehydrogenase complex assembly factor 1 umls:C0011269 Dementia, Vascular 0.21 1 Biomarker CTD_human 6390 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) umls:C2676500 Cowden-Like Syndrome 0.21 0 Biomarker CTD_human 6391 SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa umls:C1847319 Carney-Stratakis Syndrome 0.21 0 Biomarker CTD_human 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C0349535 Carcinoid Tumors, Intestinal 0.21 0 Biomarker CTD_human 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C2676500 Cowden-Like Syndrome 0.21 0 Biomarker CTD_human 89866 SEC16B SEC16 homolog B (S. cerevisiae) umls:C0005910 Body Weight 0.21 2 Biomarker CTD_human 10484 SEC23A Sec23 homolog A (S. cerevisiae) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10484 SEC23A Sec23 homolog A (S. cerevisiae) umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 11196 SEC23IP SEC23 interacting protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 22872 SEC31A SEC31 homolog A (S. cerevisiae) umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.21 1 Biomarker CTD_human 29927 SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 79048 SECISBP2 SECIS binding protein 2 umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 79048 SECISBP2 SECIS binding protein 2 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 6401 SELE selectin E umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 6401 SELE selectin E umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6401 SELE selectin E umls:C0042109 Urticaria 0.21 1 Biomarker CTD_human 8991 SELENBP1 selenium binding protein 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 8991 SELENBP1 selenium binding protein 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 8991 SELENBP1 selenium binding protein 1 umls:C0038356 Stomach Neoplasms 0.21 2 Biomarker CTD_human 6402 SELL selectin L umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 6403 SELP selectin P (granule membrane protein 140kDa, antigen CD62) umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6403 SELP selectin P (granule membrane protein 140kDa, antigen CD62) umls:C1840253 Ige Responsiveness, Atopic 0.21 0 Biomarker CTD_human 6403 SELP selectin P (granule membrane protein 140kDa, antigen CD62) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6403 SELP selectin P (granule membrane protein 140kDa, antigen CD62) umls:C0032231 Pleurisy 0.21 1 Biomarker CTD_human 6404 SELPLG selectin P ligand umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 51714 SELT selenoprotein T umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7869 SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 10512 SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C umls:C0041207 Truncus Arteriosus, Persistent 0.21 1 Biomarker CTD_human 6405 SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 80031 SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0006635 Cadmium Poisoning 0.21 1 Biomarker CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 6414 SEPP1 selenoprotein P, plasma, 1 umls:C0027765 Nervous System Diseases 0.21 2 Biomarker CTD_human 51091 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 55752 SEPT11 septin 11 umls:C0268583 Methylmalonic acidemia 0.21 1 Biomarker CTD_human 4735 SEPT2 septin 2 umls:C0268583 Methylmalonic acidemia 0.21 1 Biomarker CTD_human 5413 SEPT5 septin 5 umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 6415 SEPW1 selenoprotein W, 1 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 84947 SERAC1 serine active site containing 1 umls:C0011053 Deafness 0.21 1 Biomarker CTD_human 84947 SERAC1 serine active site containing 1 umls:C0023772 Lipid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 26135 SERBP1 SERPINE1 mRNA binding protein 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 26135 SERBP1 SERPINE1 mRNA binding protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 26135 SERBP1 SERPINE1 mRNA binding protein 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 10955 SERINC3 serine incorporator 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0019080 Hemorrhage 0.21 1 Biomarker CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0020615 Hypoglycemia 0.21 1 Biomarker CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 5265 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 umls:C0039841 Thiamine Deficiency 0.21 1 Biomarker CTD_human 12 SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 umls:C0023794 Lipidoses 0.21 3 Biomarker CTD_human 5267 SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Therapeutic CTD_human 5104 SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 6906 SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 umls:C0025521 Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 5273 SERPINB10 serpin peptidase inhibitor, clade B (ovalbumin), member 10 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 5055 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 5055 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 5055 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 2 Biomarker CTD_human 5055 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6317 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 6317 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 6317 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 6317 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 6318 SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 5268 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 5268 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5268 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 5272 SERPINB9 serpin peptidase inhibitor, clade B (ovalbumin), member 9 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0948089 Acute Coronary Syndrome 0.21 1 Therapeutic CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0270611 Brain Injuries 0.21 1 Therapeutic CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0018674 Craniocerebral Trauma 0.21 1 Biomarker CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0752143 Intracranial Thrombosis 0.21 1 Biomarker CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0162557 Liver Failure, Acute 0.21 1 Biomarker CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 462 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 umls:C0035222 Respiratory Distress Syndrome, Adult 0.21 1 Biomarker CTD_human 3053 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 umls:C0007274 Carotid Artery Thrombosis 0.21 1 Therapeutic CTD_human 3053 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 umls:C0025472 Mesenteric Vascular Occlusion 0.21 1 Biomarker CTD_human 3053 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 umls:C1861172 Venous Thromboembolism 0.21 1 Biomarker CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 5054 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 5176 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 5176 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 umls:C0010043 Corneal Ulcer 0.21 1 Therapeutic CTD_human 5176 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 5176 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 5345 SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 umls:C3489734 Anti-plasmin deficiency, congenital 0.21 0 Biomarker CTD_human 710 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 umls:C1852700 Complement Component 4, Partial Deficiency Of 0.21 0 Biomarker CTD_human 710 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 umls:C2717905 Hereditary Angioedema Types I and II 0.21 3 Biomarker CTD_human 710 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 710 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 umls:C0024143 Lupus Nephritis 0.21 1 Biomarker CTD_human 871 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 871 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) umls:C0022116 Ischemia 0.21 1 Biomarker CTD_human 871 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 871 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 29950 SERTAD1 SERTA domain containing 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 91404 SESTD1 SEC14 and spectrin domains 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 26040 SETBP1 SET binding protein 1 umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 26040 SETBP1 SET binding protein 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 26040 SETBP1 SET binding protein 1 umls:C0023014 Language Development Disorders 0.21 1 Biomarker CTD_human 26040 SETBP1 SET binding protein 1 umls:C0023470 Leukemia, Myeloid 0.21 1 Biomarker CTD_human 26040 SETBP1 SET binding protein 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 29072 SETD2 SET domain containing 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 7536 SF1 splicing factor 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 10946 SF3A3 splicing factor 3a, subunit 3, 60kDa umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 2810 SFN stratifin umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 6421 SFPQ splicing factor proline/glutamine-rich umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 6421 SFPQ splicing factor proline/glutamine-rich umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 6421 SFPQ splicing factor proline/glutamine-rich umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6422 SFRP1 secreted frizzled-related protein 1 umls:C0021390 Inflammatory Bowel Diseases 0.21 1 Biomarker CTD_human 6423 SFRP2 secreted frizzled-related protein 2 umls:C0021390 Inflammatory Bowel Diseases 0.21 1 Biomarker CTD_human 6424 SFRP4 secreted frizzled-related protein 4 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 6433 SFSWAP splicing factor, suppressor of white-apricot family umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 6439 SFTPB surfactant protein B umls:C0019284 Hernia, Diaphragmatic 0.21 2 Biomarker CTD_human 6440 SFTPC surfactant protein C umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 6440 SFTPC surfactant protein C umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6440 SFTPC surfactant protein C umls:C1968602 Surfactant Metabolism Dysfunction, Pulmonary, 1 0.21 0 Biomarker CTD_human 6442 SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6443 SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 6445 SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 137868 SGCZ sarcoglycan, zeta umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 6446 SGK1 serum/glucocorticoid regulated kinase 1 umls:C0011882 Diabetic Neuropathies 0.21 1 Biomarker CTD_human 6446 SGK1 serum/glucocorticoid regulated kinase 1 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 6446 SGK1 serum/glucocorticoid regulated kinase 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6446 SGK1 serum/glucocorticoid regulated kinase 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6446 SGK1 serum/glucocorticoid regulated kinase 1 umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 151648 SGOL1 shugoshin-like 1 (S. pombe) umls:C0003811 Arrhythmias, Cardiac 0.21 1 Biomarker CTD_human 151648 SGOL1 shugoshin-like 1 (S. pombe) umls:C0236811 Chronobiology Disorders 0.21 1 Biomarker CTD_human 151648 SGOL1 shugoshin-like 1 (S. pombe) umls:C0021831 Intestinal Diseases 0.21 1 Biomarker CTD_human 81537 SGPP1 sphingosine-1-phosphate phosphatase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 81537 SGPP1 sphingosine-1-phosphate phosphatase 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10019 SH2B3 SH2B adaptor protein 3 umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 10019 SH2B3 SH2B adaptor protein 3 umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 30011 SH3KBP1 SH3-domain kinase binding protein 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 285590 SH3PXD2B SH3 and PX domains 2B umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 285590 SH3PXD2B SH3 and PX domains 2B umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 285590 SH3PXD2B SH3 and PX domains 2B umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 285590 SH3PXD2B SH3 and PX domains 2B umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 285590 SH3PXD2B SH3 and PX domains 2B umls:C1384666 Hearing Loss 0.21 1 Biomarker CTD_human 344558 SH3RF3 SH3 domain containing ring finger 3 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 54436 SH3TC1 SH3 domain and tetratricopeptide repeats 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 50944 SHANK1 SH3 and multiple ankyrin repeat domains 1 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 50944 SHANK1 SH3 and multiple ankyrin repeat domains 1 umls:C0026613 Motor Skills Disorders 0.21 1 Biomarker CTD_human 85358 SHANK3 SH3 and multiple ankyrin repeat domains 3 umls:C0008074 Child Development Disorders, Pervasive 0.21 2 Biomarker CTD_human 85358 SHANK3 SH3 and multiple ankyrin repeat domains 3 umls:C0023014 Language Development Disorders 0.21 2 Biomarker CTD_human 81858 SHARPIN SHANK-associated RH domain interactor umls:C0014457 Eosinophilia 0.21 1 Biomarker CTD_human 6462 SHBG sex hormone-binding globulin umls:C0001973 Alcoholism 0.21 1 Biomarker CTD_human 6462 SHBG sex hormone-binding globulin umls:C0242350 Erectile Dysfunction 0.21 1 Biomarker CTD_human 6462 SHBG sex hormone-binding globulin umls:C0024232 Lymphatic Metastasis 0.21 1 Biomarker CTD_human 6462 SHBG sex hormone-binding globulin umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 6462 SHBG sex hormone-binding globulin umls:C0033578 Prostatic Neoplasms 0.21 2 Biomarker CTD_human 6464 SHC1 SHC (Src homology 2 domain containing) transforming protein 1 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 6464 SHC1 SHC (Src homology 2 domain containing) transforming protein 1 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 791121 SHFL1 Split-hand/foot malformation with long bone deficiency 1 umls:C1861553 Split-hand/foot malformation with long bone deficiency 0.21 0 Biomarker CTD_human 791123 SHFLD2 Split-hand/foot malformation with long deficiency 2 umls:C1853156 Split-Hand/Foot Malformation With Long Bone Deficiency 2 0.21 0 Biomarker CTD_human 100270800 SHFLD3 Split-hand/foot malformation with long bone deficiency 3 umls:C2675492 Split-Hand/Foot Malformation With Long Bone Deficiency 3 0.21 0 Biomarker CTD_human 7979 SHFM1 split hand/foot malformation (ectrodactyly) type 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6463 SHFM2 split hand/foot malformation (ectrodactyly) type 2 umls:C1839258 Split-Hand Foot Malformation 2 0.21 0 Biomarker CTD_human 171157 SHFM5 split hand/foot malformation (ectrodactyly) type 5 umls:C1847622 Split-Hand/Foot Malformation 5 0.21 0 Biomarker CTD_human 6469 SHH sonic hedgehog umls:C0030569 Parkinson Disease, Secondary 0.21 1 Therapeutic CTD_human 6470 SHMT1 serine hydroxymethyltransferase 1 (soluble) umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 6470 SHMT1 serine hydroxymethyltransferase 1 (soluble) umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 8036 SHOC2 soc-2 suppressor of clear homolog (C. elegans) umls:C0018500 Hair Diseases 0.21 1 Biomarker CTD_human 6473 SHOX short stature homeobox umls:C1858656 Short Stature, Idiopathic, Autosomal 0.21 0 Biomarker CTD_human 6614 SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C0236736 Cocaine-Related Disorders 0.21 2 Biomarker CTD_human 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C0023186 Learning Disorders 0.21 1 Therapeutic CTD_human 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C0025261 Memory Disorders 0.21 1 Therapeutic CTD_human 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C0033054 Prenatal Exposure Delayed Effects 0.21 1 Therapeutic CTD_human 10280 SIGMAR1 sigma non-opioid intracellular receptor 1 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 150094 SIK1 salt-inducible kinase 1 umls:C0007193 Cardiomyopathy, Dilated 0.21 1 Biomarker CTD_human 64374 SIL1 SIL1 nucleotide exchange factor umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6492 SIM1 single-minded family bHLH transcription factor 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6492 SIM1 single-minded family bHLH transcription factor 1 umls:C0020456 Hyperglycemia 0.21 1 Biomarker CTD_human 6492 SIM1 single-minded family bHLH transcription factor 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6493 SIM2 single-minded family bHLH transcription factor 2 umls:C0008925 Cleft Palate 0.21 1 Biomarker CTD_human 6493 SIM2 single-minded family bHLH transcription factor 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 26037 SIPA1L1 signal-induced proliferation-associated 1 like 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 140885 SIRPA signal-regulatory protein alpha umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 23411 SIRT1 sirtuin 1 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 23411 SIRT1 sirtuin 1 umls:C0751955 Brain Infarction 0.21 1 Biomarker CTD_human 23411 SIRT1 sirtuin 1 umls:C0006118 Brain Neoplasms 0.21 1 Biomarker CTD_human 23411 SIRT1 sirtuin 1 umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.21 1 Biomarker CTD_human 23411 SIRT1 sirtuin 1 umls:C0009319 Colitis 0.21 1 Biomarker CTD_human 23411 SIRT1 sirtuin 1 umls:C0011303 Demyelinating Diseases 0.21 1 Therapeutic CTD_human 23411 SIRT1 sirtuin 1 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 23411 SIRT1 sirtuin 1 umls:C0919532 Genomic Instability 0.21 1 Biomarker CTD_human 23411 SIRT1 sirtuin 1 umls:C0271650 Glucose Intolerance 0.21 1 Therapeutic CTD_human 23411 SIRT1 sirtuin 1 umls:C0020564 Hypertrophy 0.21 1 Therapeutic CTD_human 23411 SIRT1 sirtuin 1 umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Therapeutic CTD_human 23411 SIRT1 sirtuin 1 umls:C0522224 Paralysis 0.21 1 Therapeutic CTD_human 23411 SIRT1 sirtuin 1 umls:C0155862 Pneumonia, Pneumococcal 0.21 1 Biomarker CTD_human 23410 SIRT3 sirtuin 3 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 10572 SIVA1 SIVA1, apoptosis-inducing factor umls:C0010246 Coxsackievirus Infections 0.21 1 Biomarker CTD_human 6495 SIX1 SIX homeobox 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 6495 SIX1 SIX homeobox 1 umls:C1854594 Deafness, Autosomal Dominant 23 0.21 0 Biomarker CTD_human 10736 SIX2 SIX homeobox 2 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 10736 SIX2 SIX homeobox 2 umls:C1876203 Frontonasal dysplasia 0.21 1 Biomarker CTD_human 10736 SIX2 SIX homeobox 2 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 6496 SIX3 SIX homeobox 3 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 6496 SIX3 SIX homeobox 3 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 4990 SIX6 SIX homeobox 6 umls:C0027092 Myopia 0.21 1 Biomarker CTD_human 6497 SKI SKI proto-oncogene umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 6497 SKI SKI proto-oncogene umls:C0151491 Musculoskeletal Abnormalities 0.21 1 Biomarker CTD_human 6497 SKI SKI proto-oncogene umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 6498 SKIL SKI-like proto-oncogene umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 6498 SKIL SKI-like proto-oncogene umls:C2931434 Paraquat lung 0.21 1 Therapeutic CTD_human 6498 SKIL SKI-like proto-oncogene umls:C0034069 Pulmonary Fibrosis 0.21 1 Therapeutic CTD_human 6498 SKIL SKI-like proto-oncogene umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6502 SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 6503 SLA Src-like-adaptor umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 56833 SLAMF8 SLAM family member 8 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7884 SLBP stem-loop binding protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6554 SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 6555 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 6555 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6555 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0016470 Food Hypersensitivity 0.21 1 Biomarker CTD_human 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C0025294 Meningitis, Meningococcal 0.21 1 Biomarker CTD_human 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 4891 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0007222 Cardiovascular Diseases 0.21 1 Biomarker CTD_human 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0271650 Glucose Intolerance 0.21 1 Biomarker CTD_human 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 6558 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6559 SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 umls:C0042373 Vascular Diseases 0.21 1 Biomarker CTD_human 57468 SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 6563 SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) umls:C0002880 Anemia, Hemolytic, Autoimmune 0.21 1 Biomarker CTD_human 6565 SLC15A2 solute carrier family 15 (oligopeptide transporter), member 2 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 6566 SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 387700 SLC16A12 solute carrier family 16, member 12 umls:C2677587 Cataract, Juvenile, With Microcornea And Glucosuria 0.21 0 Biomarker CTD_human 6567 SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 9120 SLC16A6 solute carrier family 16, member 6 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 9194 SLC16A7 solute carrier family 16 (monocarboxylate transporter), member 7 umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 6568 SLC17A1 solute carrier family 17 (organic anion transporter), member 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 57084 SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6 umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 57084 SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 57030 SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7 umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 57030 SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 57030 SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 6571 SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 6571 SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 6573 SLC19A1 solute carrier family 19 (folate transporter), member 1 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 80704 SLC19A3 solute carrier family 19 (thiamine transporter), member 3 umls:C0004782 Basal Ganglia Diseases 0.21 1 Biomarker CTD_human 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C0333641 Atrophy 0.21 1 Biomarker CTD_human 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C1955869 Malformations of Cortical Development 0.21 1 Biomarker CTD_human 6506 SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Therapeutic CTD_human 6506 SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 6506 SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6507 SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 6507 SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6574 SLC20A1 solute carrier family 20 (phosphate transporter), member 1 umls:C0428791 Aortic Valve, Calcification of 0.21 1 Biomarker CTD_human 6574 SLC20A1 solute carrier family 20 (phosphate transporter), member 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 6574 SLC20A1 solute carrier family 20 (phosphate transporter), member 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6580 SLC22A1 solute carrier family 22 (organic cation transporter), member 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 116085 SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 55356 SLC22A15 solute carrier family 22, member 15 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 5002 SLC22A18 solute carrier family 22, member 18 umls:C0024121 Lung Neoplasms 0.21 0 Biomarker CTD_human 5002 SLC22A18 solute carrier family 22, member 18 umls:C1849385 Rhabdomyosarcoma 1 0.21 0 Biomarker CTD_human 6582 SLC22A2 solute carrier family 22 (organic cation transporter), member 2 umls:C0032343 Poisoning 0.21 1 Therapeutic CTD_human 283238 SLC22A24 solute carrier family 22, member 24 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 6581 SLC22A3 solute carrier family 22 (organic cation transporter), member 3 umls:C0010246 Coxsackievirus Infections 0.21 1 Biomarker CTD_human 6581 SLC22A3 solute carrier family 22 (organic cation transporter), member 3 umls:C0027059 Myocarditis 0.21 1 Biomarker CTD_human 6581 SLC22A3 solute carrier family 22 (organic cation transporter), member 3 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 6583 SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 umls:C0010246 Coxsackievirus Infections 0.21 1 Biomarker CTD_human 6583 SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 umls:C0014378 Enterovirus Infections 0.21 1 Biomarker CTD_human 6583 SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 umls:C0027059 Myocarditis 0.21 1 Biomarker CTD_human 6584 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 umls:C0010246 Coxsackievirus Infections 0.21 1 Biomarker CTD_human 6584 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 6584 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 umls:C0027059 Myocarditis 0.21 1 Biomarker CTD_human 9356 SLC22A6 solute carrier family 22 (organic anion transporter), member 6 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 9376 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 9376 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 9963 SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1 umls:C0151699 Intracranial Hemorrhages 0.21 1 Biomarker CTD_human 9963 SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1 umls:C0035229 Respiratory Insufficiency 0.21 1 Biomarker CTD_human 57419 SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 57419 SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 1468 SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 1468 SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 1468 SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 8604 SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 10165 SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 umls:C0016658 Fractures, Bone 0.21 1 Biomarker CTD_human 29957 SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 5250 SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 51312 SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 umls:C0002871 Anemia 0.21 1 Biomarker CTD_human 291 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 umls:C3495498 Cardiomyopathy, Familial Hypertrophic, 1 0.21 0 Biomarker CTD_human 291 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 umls:C0853897 Diabetic Cardiomyopathies 0.21 1 Therapeutic CTD_human 291 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 umls:C1834846 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 0.21 0 Biomarker CTD_human 283130 SLC25A45 solute carrier family 25, member 45 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 10861 SLC26A1 solute carrier family 26 (anion exchanger), member 1 umls:C0027709 Nephrocalcinosis 0.21 1 Biomarker CTD_human 1836 SLC26A2 solute carrier family 26 (anion exchanger), member 2 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 1836 SLC26A2 solute carrier family 26 (anion exchanger), member 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 1836 SLC26A2 solute carrier family 26 (anion exchanger), member 2 umls:C0013447 Ear Diseases 0.21 1 Biomarker CTD_human 1836 SLC26A2 solute carrier family 26 (anion exchanger), member 2 umls:C0022821 Kyphosis 0.21 1 Biomarker CTD_human 5172 SLC26A4 solute carrier family 26 (anion exchanger), member 4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 115111 SLC26A7 solute carrier family 26 (anion exchanger), member 7 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 116369 SLC26A8 solute carrier family 26 (anion exchanger), member 8 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 115019 SLC26A9 solute carrier family 26 (anion exchanger), member 9 umls:C1859047 CYSTIC FIBROSIS, MODIFIER OF, 1 0.21 1 Biomarker CTD_human 115019 SLC26A9 solute carrier family 26 (anion exchanger), member 9 umls:C0021843 Intestinal Obstruction 0.21 1 Biomarker CTD_human 9154 SLC28A1 solute carrier family 28 (concentrative nucleoside transporter), member 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C1384666 Hearing Loss 0.21 1 Biomarker CTD_human 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C0019209 Hepatomegaly 0.21 1 Biomarker CTD_human 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C0019618 Histiocytosis 0.21 1 Biomarker CTD_human 55315 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 umls:C0162834 Hyperpigmentation 0.21 2 Biomarker CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C1176475 Carcinoma, Ductal 0.21 1 Biomarker CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0008073 Developmental Disabilities 0.21 3 Biomarker CTD_human 6513 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 114134 SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 6514 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 6514 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 umls:C0015624 Fanconi Syndrome 0.21 1 Biomarker CTD_human 6514 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 6515 SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 6515 SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 umls:C0023794 Lipidoses 0.21 2 Biomarker CTD_human 6515 SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 umls:C0027658 Neoplasms, Germ Cell and Embryonal 0.21 1 Biomarker CTD_human 6517 SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 umls:C0021655 Insulin Resistance 0.21 1 Therapeutic CTD_human 7779 SLC30A1 solute carrier family 30 (zinc transporter), member 1 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 7782 SLC30A4 solute carrier family 30 (zinc transporter), member 4 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 64924 SLC30A5 solute carrier family 30 (zinc transporter), member 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 148867 SLC30A7 solute carrier family 30 (zinc transporter), member 7 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 1317 SLC31A1 solute carrier family 31 (copper transporter), member 1 umls:C0000768 Congenital Abnormalities 0.21 1 Biomarker CTD_human 1317 SLC31A1 solute carrier family 31 (copper transporter), member 1 umls:C0752351 Embryo Loss 0.21 1 Biomarker CTD_human 1317 SLC31A1 solute carrier family 31 (copper transporter), member 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 1317 SLC31A1 solute carrier family 31 (copper transporter), member 1 umls:C0677050 Manganese Poisoning 0.21 1 Biomarker CTD_human 1317 SLC31A1 solute carrier family 31 (copper transporter), member 1 umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 6569 SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 6569 SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 umls:C0015624 Fanconi Syndrome 0.21 0 Biomarker CTD_human 6569 SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 umls:C0020437 Hypercalcemia 0.21 1 Biomarker CTD_human 10568 SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.21 2 Biomarker CTD_human 10568 SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 142680 SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 umls:C1853271 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 0.21 0 Biomarker CTD_human 23169 SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 80723 SLC35G2 solute carrier family 35, member G2 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 2542 SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 54407 SLC38A2 solute carrier family 38, member 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 153129 SLC38A9 solute carrier family 38, member 9 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 27173 SLC39A1 solute carrier family 39 (zinc transporter), member 1 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 57181 SLC39A10 solute carrier family 39 (zinc transporter), member 10 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 221074 SLC39A12 solute carrier family 39 (zinc transporter), member 12 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 91252 SLC39A13 solute carrier family 39 (zinc transporter), member 13 umls:C0005940 Bone Diseases 0.21 1 Biomarker CTD_human 91252 SLC39A13 solute carrier family 39 (zinc transporter), member 13 umls:C0009782 Connective Tissue Diseases 0.21 2 Biomarker CTD_human 91252 SLC39A13 solute carrier family 39 (zinc transporter), member 13 umls:C0022821 Kyphosis 0.21 1 Biomarker CTD_human 91252 SLC39A13 solute carrier family 39 (zinc transporter), member 13 umls:C0040427 Tooth Abnormalities 0.21 2 Biomarker CTD_human 23516 SLC39A14 solute carrier family 39 (zinc transporter), member 14 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 55630 SLC39A4 solute carrier family 39 (zinc transporter), member 4 umls:C0086468 Prenatal Injuries 0.21 1 Biomarker CTD_human 55630 SLC39A4 solute carrier family 39 (zinc transporter), member 4 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 64116 SLC39A8 solute carrier family 39 (zinc transporter), member 8 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 30061 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 30061 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 30061 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 30061 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 umls:C2931082 Familial apoceruloplasmin deficiency 0.21 1 Biomarker CTD_human 30061 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 29015 SLC43A3 solute carrier family 43, member 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 51151 SLC45A2 solute carrier family 45, member 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 113235 SLC46A1 solute carrier family 46 (folate transporter), member 1 umls:C0002871 Anemia 0.21 1 Biomarker CTD_human 113235 SLC46A1 solute carrier family 46 (folate transporter), member 1 umls:C0598608 Hyperhomocysteinemia 0.21 1 Biomarker CTD_human 113235 SLC46A1 solute carrier family 46 (folate transporter), member 1 umls:C0030312 Pancytopenia 0.21 1 Biomarker CTD_human 55244 SLC47A1 solute carrier family 47 (multidrug and toxin extrusion), member 1 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C0018939 Hematologic Diseases 0.21 1 Biomarker CTD_human 57282 SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 57282 SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 umls:C0085541 Epilepsy, Frontal Lobe 0.21 1 Biomarker CTD_human 57282 SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 57282 SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 umls:C0151740 Intracranial Hypertension 0.21 1 Therapeutic CTD_human 6508 SLC4A3 solute carrier family 4 (anion exchanger), member 3 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 8671 SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 umls:C0010038 Corneal Opacity 0.21 1 Biomarker CTD_human 8671 SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 200931 SLC51A solute carrier family 51, alpha subunit umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 123264 SLC51B solute carrier family 51, beta subunit umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 6526 SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 umls:C0005586 Bipolar Disorder 0.21 1 Biomarker CTD_human 6526 SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 6528 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 umls:C0022665 Kidney Neoplasms 0.21 1 Therapeutic CTD_human 160728 SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 umls:C0740394 Hyperuricemia 0.21 1 Biomarker CTD_human 6529 SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 6538 SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 11254 SLC6A14 solute carrier family 6 (amino acid transporter), member 14 umls:C2678155 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 0.21 0 Biomarker CTD_human 11254 SLC6A14 solute carrier family 6 (amino acid transporter), member 14 umls:C1859047 CYSTIC FIBROSIS, MODIFIER OF, 1 0.21 1 Biomarker CTD_human 11254 SLC6A14 solute carrier family 6 (amino acid transporter), member 14 umls:C0021843 Intestinal Obstruction 0.21 1 Biomarker CTD_human 6530 SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 54716 SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 54716 SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 umls:C0268654 Iminoglycinuria 0.21 1 Biomarker CTD_human 54716 SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C1449861 Micronuclei, Chromosome-Defective 0.21 1 Biomarker CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0027746 Nerve Degeneration 0.21 2 Biomarker CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C0040188 Tic Disorders 0.21 1 Biomarker CTD_human 6531 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 umls:C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0236792 Asperger Syndrome 0.21 1 Biomarker CTD_human 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 6532 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 9152 SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 umls:C1835614 Hyperexplexia hereditary 0.21 0 Biomarker CTD_human 6533 SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6536 SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 6541 SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 23657 SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 8140 SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 8140 SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9056 SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 23428 SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 11136 SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 6546 SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 umls:C0025160 Megacolon 0.21 2 Biomarker CTD_human 6546 SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6546 SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 6547 SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 6548 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 umls:C0004763 Barrett Esophagus 0.21 1 Biomarker CTD_human 6548 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Biomarker CTD_human 6548 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 6548 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 umls:C0013604 Edema 0.21 1 Biomarker CTD_human 6548 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 umls:C0030193 Pain 0.21 1 Biomarker CTD_human 6549 SLC9A2 solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 umls:C0013604 Edema 0.21 1 Biomarker CTD_human 6550 SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 umls:C1859047 CYSTIC FIBROSIS, MODIFIER OF, 1 0.21 1 Biomarker CTD_human 6550 SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 umls:C0013604 Edema 0.21 1 Biomarker CTD_human 6550 SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 umls:C0021843 Intestinal Obstruction 0.21 1 Biomarker CTD_human 389015 SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 umls:C0001122 Acidosis 0.21 1 Biomarker CTD_human 10479 SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23315 SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 umls:C0497327 Dementia 0.21 1 Biomarker CTD_human 10599 SLCO1B1 solute carrier organic anion transporter family, member 1B1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 28234 SLCO1B3 solute carrier organic anion transporter family, member 1B3 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 28234 SLCO1B3 solute carrier organic anion transporter family, member 1B3 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 6578 SLCO2A1 solute carrier organic anion transporter family, member 2A1 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 28232 SLCO3A1 solute carrier organic anion transporter family, member 3A1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 100190928 SLEB12 Systemic lupus erythematosus, susceptibility to, 12 umls:C0024141 Lupus Erythematosus, Systemic 0.21 0 Biomarker CTD_human 100196918 SLEB13 Systemic lupus erythematosus, susceptibility to, 13 umls:C0024141 Lupus Erythematosus, Systemic 0.21 0 Biomarker CTD_human 100322878 SLEB14 Systemic lupus erythematosus, susceptiblity to, 14 umls:C0024141 Lupus Erythematosus, Systemic 0.21 0 Biomarker CTD_human 100379200 SLEB15 Systemic lupus erthematosus, susceptibility to, 15 umls:C0024141 Lupus Erythematosus, Systemic 0.21 0 Biomarker CTD_human 404714 SLEB4 systemic lupus erythematosus, susceptibility to, 4 umls:C0024141 Lupus Erythematosus, Systemic 0.21 0 Biomarker CTD_human 100188798 SLEB5 Systemic lupus erythematosus, susceptibility to, 5 umls:C0024141 Lupus Erythematosus, Systemic 0.21 0 Biomarker CTD_human 100188803 SLEB7 Systemic lupus erythematosus, susceptibility to, 7 umls:C0024141 Lupus Erythematosus, Systemic 0.21 0 Biomarker CTD_human 100188804 SLEB8 Systemic lupus erythematosus, susceptibility to, 8 umls:C0024141 Lupus Erythematosus, Systemic 0.21 0 Biomarker CTD_human 170682 SLEH1 systemic lupus erythematosus with hemolytic anemia 1 umls:C1846533 SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 192677 SLEN1 systemic lupus erythematosus with nephritis 1 umls:C1842757 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1 0.21 0 Biomarker CTD_human 192679 SLEN2 systemic lupus erythematosus with nephritis 2 umls:C1842756 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2 0.21 0 Biomarker CTD_human 282849 SLEN3 systemic lupus erythematosus with nephritis 3 umls:C1842755 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3 0.21 0 Biomarker CTD_human 171013 SLI1 Specific language impairment QTL, 1 umls:C1847614 SPECIFIC LANGUAGE IMPAIRMENT 1 0.21 0 Biomarker CTD_human 171014 SLI2 Specific language impairment QTL, 2 umls:C1847605 SPECIFIC LANGUAGE IMPAIRMENT 2 0.21 0 Biomarker CTD_human 780906 SLI3 Specific language impairment QTL, 3 umls:C1846719 SPECIFIC LANGUAGE IMPAIRMENT 3 0.21 0 Biomarker CTD_human 100233227 SLI4 Specific language impairment 4 umls:C2675874 Specific Language Impairment 4 0.21 0 Biomarker CTD_human 9353 SLIT2 slit homolog 2 (Drosophila) umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 6586 SLIT3 slit homolog 3 (Drosophila) umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 9748 SLK STE20-like kinase umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 6590 SLPI secretory leukocyte peptidase inhibitor umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 260432 SLSN3 Senior-Loken syndrome 3 umls:C1846980 Senior-Loken Syndrome 3 0.21 0 Biomarker CTD_human 10569 SLU7 SLU7 splicing factor homolog (S. cerevisiae) umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 7911 SM1 Schistosoma mansoni, susceptibility/resistance to umls:C0036330 Schistosomiasis mansoni 0.21 0 Biomarker CTD_human 53366 SM2 Hepatic fibrosis susceptibility due to Schistosoma mansoni infection umls:C1858709 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION 0.21 0 Biomarker CTD_human 4087 SMAD2 SMAD family member 2 umls:C0265287 Acromicric dysplasia 0.21 1 Biomarker CTD_human 4087 SMAD2 SMAD family member 2 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 4087 SMAD2 SMAD family member 2 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 4087 SMAD2 SMAD family member 2 umls:C0600519 Ventricular Remodeling 0.21 1 Biomarker CTD_human 4088 SMAD3 SMAD family member 3 umls:C0002949 Aneurysm, Dissecting 0.21 1 Biomarker CTD_human 4088 SMAD3 SMAD family member 3 umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 4088 SMAD3 SMAD family member 3 umls:C0023891 Liver Cirrhosis, Alcoholic 0.21 1 Biomarker CTD_human 4088 SMAD3 SMAD family member 3 umls:C0042138 Uterine Neoplasms 0.21 1 Biomarker CTD_human 4088 SMAD3 SMAD family member 3 umls:C0600519 Ventricular Remodeling 0.21 1 Biomarker CTD_human 4089 SMAD4 SMAD family member 4 umls:C0221357 Brachydactyly 0.21 1 Biomarker CTD_human 4089 SMAD4 SMAD family member 4 umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 4089 SMAD4 SMAD family member 4 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 4089 SMAD4 SMAD family member 4 umls:C0011053 Deafness 0.21 1 Biomarker CTD_human 4089 SMAD4 SMAD family member 4 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 4089 SMAD4 SMAD family member 4 umls:C0023897 Liver Diseases, Parasitic 0.21 1 Biomarker CTD_human 4089 SMAD4 SMAD family member 4 umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 4092 SMAD7 SMAD family member 7 umls:C2931434 Paraquat lung 0.21 1 Therapeutic CTD_human 4092 SMAD7 SMAD family member 7 umls:C0034069 Pulmonary Fibrosis 0.21 1 Therapeutic CTD_human 8094 SMAL spinal muscular atrophy, congenital nonprogressive, of lower limbs umls:C1838492 Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 0.21 0 Biomarker CTD_human 246751 SMAR Spinal muscular atrophy, chronic distal, autosomal recessive umls:C1846823 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 0.21 0 Biomarker CTD_human 6595 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 6595 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 umls:C0265338 Coffin-Siris syndrome 0.21 1 Biomarker CTD_human 6597 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 umls:C0006413 Burkitt Lymphoma 0.21 1 Biomarker CTD_human 6597 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 umls:C0265338 Coffin-Siris syndrome 0.21 1 Biomarker CTD_human 6599 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 6599 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 6605 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 8243 SMC1A structural maintenance of chromosomes 1A umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 8243 SMC1A structural maintenance of chromosomes 1A umls:C0023470 Leukemia, Myeloid 0.21 1 Biomarker CTD_human 8243 SMC1A structural maintenance of chromosomes 1A umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 27127 SMC1B structural maintenance of chromosomes 1B umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 10592 SMC2 structural maintenance of chromosomes 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 9126 SMC3 structural maintenance of chromosomes 3 umls:C0023470 Leukemia, Myeloid 0.21 1 Biomarker CTD_human 10051 SMC4 structural maintenance of chromosomes 4 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23347 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6606 SMN1 survival of motor neuron 1, telomeric umls:C2931844 Spinal muscular atrophy 4 0.21 0 Biomarker CTD_human 6608 SMO smoothened, frizzled class receptor umls:C0002448 Ameloblastoma 0.21 1 Biomarker CTD_human 6608 SMO smoothened, frizzled class receptor umls:C0006118 Brain Neoplasms 0.21 1 Biomarker CTD_human 6608 SMO smoothened, frizzled class receptor umls:C0022360 Jaw Abnormalities 0.21 1 Biomarker CTD_human 6608 SMO smoothened, frizzled class receptor umls:C0023487 Leukemia, Promyelocytic, Acute 0.21 1 Biomarker CTD_human 6608 SMO smoothened, frizzled class receptor umls:C0024954 Maxillary Neoplasms 0.21 1 Biomarker CTD_human 6608 SMO smoothened, frizzled class receptor umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 54498 SMOX spermine oxidase umls:C0038454 Stroke 0.21 1 Biomarker CTD_human 55512 SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) umls:C0026986 Myelodysplastic Syndromes 0.21 1 Biomarker CTD_human 10924 SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 64754 SMYD3 SET and MYND domain containing 3 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 114826 SMYD4 SET and MYND domain containing 4 umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 6615 SNAI1 snail family zinc finger 1 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 6615 SNAI1 snail family zinc finger 1 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 6615 SNAI1 snail family zinc finger 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 6615 SNAI1 snail family zinc finger 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6591 SNAI2 snail family zinc finger 2 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 6591 SNAI2 snail family zinc finger 2 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 333929 SNAI3 snail family zinc finger 3 umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 8773 SNAP23 synaptosomal-associated protein, 23kDa umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6616 SNAP25 synaptosomal-associated protein, 25kDa umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 6616 SNAP25 synaptosomal-associated protein, 25kDa umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 6616 SNAP25 synaptosomal-associated protein, 25kDa umls:C0011860 Diabetes Mellitus, Type 2 0.21 1 Biomarker CTD_human 6616 SNAP25 synaptosomal-associated protein, 25kDa umls:C0752252 Neuromuscular Manifestations 0.21 1 Biomarker CTD_human 6616 SNAP25 synaptosomal-associated protein, 25kDa umls:C0278076 Tics 0.21 1 Biomarker CTD_human 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0017205 Gaucher Disease 0.21 1 Biomarker CTD_human 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0022976 Lameness, Animal 0.21 1 Biomarker CTD_human 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0027746 Nerve Degeneration 0.21 2 Biomarker CTD_human 6622 SNCA synuclein, alpha (non A4 component of amyloid precursor) umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 9627 SNCAIP synuclein, alpha interacting protein umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 6623 SNCG synuclein, gamma (breast cancer-specific protein 1) umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 6623 SNCG synuclein, gamma (breast cancer-specific protein 1) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6623 SNCG synuclein, gamma (breast cancer-specific protein 1) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 128439 SNHG11 small nucleolar RNA host gene 11 (non-protein coding) umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 6628 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6628 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6634 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 6634 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 6634 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6634 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 54221 SNTG2 syntrophin, gamma 2 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 29887 SNX10 sorting nexin 10 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 112574 SNX18 sorting nexin 18 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 6643 SNX2 sorting nexin 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 28966 SNX24 sorting nexin 24 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8724 SNX3 sorting nexin 3 umls:C1832440 Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism 0.21 0 Biomarker CTD_human 27131 SNX5 sorting nexin 5 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 27131 SNX5 sorting nexin 5 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 8651 SOCS1 suppressor of cytokine signaling 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 8651 SOCS1 suppressor of cytokine signaling 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 8651 SOCS1 suppressor of cytokine signaling 1 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 8651 SOCS1 suppressor of cytokine signaling 1 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 8835 SOCS2 suppressor of cytokine signaling 2 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 8835 SOCS2 suppressor of cytokine signaling 2 umls:C0027404 Narcolepsy 0.21 1 Biomarker CTD_human 9021 SOCS3 suppressor of cytokine signaling 3 umls:C1853963 Dermatitis, Atopic, 4 0.21 0 Biomarker CTD_human 9021 SOCS3 suppressor of cytokine signaling 3 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 9021 SOCS3 suppressor of cytokine signaling 3 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 9021 SOCS3 suppressor of cytokine signaling 3 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0162316 Anemia, Iron-Deficiency 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0004045 Asphyxia Neonatorum 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Therapeutic CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0011581 Depressive Disorder 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0012644 Disease Models, Animal 0.21 6 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0015696 Fatty Liver, Alcoholic 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0015934 Fetal Growth Retardation 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0751830 Gait Disorders, Neurologic 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0007787 Ischemic Attack, Transient 0.21 4 Therapeutic CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0027540 Necrosis 0.21 1 Therapeutic CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0027720 Nephrosis 0.21 1 Therapeutic CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0033626 Protein Deficiency 0.21 1 Therapeutic CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0033687 Proteinuria 0.21 1 Therapeutic CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0034531 Radiation Injuries, Experimental 0.21 1 Therapeutic CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0035304 Retinal Degeneration 0.21 2 Biomarker, Therapeutic CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0036330 Schistosomiasis mansoni 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0036457 Scrapie 0.21 1 Biomarker CTD_human 6647 SOD1 superoxide dismutase 1, soluble umls:C0037929 Spinal Cord Injuries 0.21 1 Therapeutic CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0032580 Adenomatous Polyposis Coli 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0002390 Alveolitis, Extrinsic Allergic 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0002896 Anemia, Sideroblastic 0.21 2 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0003130 Anoxia 0.21 2 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0004045 Asphyxia Neonatorum 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0004364 Autoimmune Diseases 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0007786 Brain Ischemia 0.21 3 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0007621 Cell Transformation, Neoplastic 0.21 2 Therapeutic CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0007682 Central Nervous System Diseases 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0242656 Disease Progression 0.21 7 Biomarker, Therapeutic CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0376618 Endotoxemia 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0015695 Fatty Liver 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0015967 Fever 0.21 1 Therapeutic CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0018200 Granuloma, Respiratory Tract 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0018801 Heart Failure 0.21 5 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0020542 Hypertension, Pulmonary 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0020550 Hyperthyroidism 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0020615 Hypoglycemia 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0007787 Ischemic Attack, Transient 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0022672 Kidney Tubular Necrosis, Acute 0.21 1 Therapeutic CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0752347 Lewy Body Disease 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0206062 Lung Diseases, Interstitial 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0024232 Lymphatic Metastasis 0.21 3 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0268583 Methylmalonic acidemia 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0751651 Mitochondrial Diseases 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0027540 Necrosis 0.21 2 Biomarker, Therapeutic CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0027626 Neoplasm Invasiveness 0.21 6 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0162674 Ophthalmoplegia, Chronic Progressive External 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0033941 Psychoses, Substance-Induced 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0034531 Radiation Injuries, Experimental 0.21 2 Therapeutic CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0206160 Reticulocytosis 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0036202 Sarcoidosis 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0036572 Seizures 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0037286 Skin Neoplasms 0.21 2 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0238461 Thyroid Carcinoma, Anaplastic 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0040411 Tongue Neoplasms 0.21 1 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0042164 Uveitis 0.21 2 Biomarker CTD_human 6648 SOD2 superoxide dismutase 2, mitochondrial umls:C0242698 Ventricular Dysfunction, Left 0.21 1 Biomarker CTD_human 6649 SOD3 superoxide dismutase 3, extracellular umls:C0011616 Dermatitis, Contact 0.21 1 Therapeutic CTD_human 6649 SOD3 superoxide dismutase 3, extracellular umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6649 SOD3 superoxide dismutase 3, extracellular umls:C0860207 Drug-Induced Liver Injury 0.21 1 Therapeutic CTD_human 6649 SOD3 superoxide dismutase 3, extracellular umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 6649 SOD3 superoxide dismutase 3, extracellular umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.21 1 Biomarker CTD_human 6649 SOD3 superoxide dismutase 3, extracellular umls:C0027540 Necrosis 0.21 1 Therapeutic CTD_human 6649 SOD3 superoxide dismutase 3, extracellular umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6651 SON SON DNA binding protein umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 6651 SON SON DNA binding protein umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 8470 SORBS2 sorbin and SH3 domain containing 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 6652 SORD sorbitol dehydrogenase umls:C0520459 Enterocolitis, Necrotizing 0.21 1 Biomarker CTD_human 50964 SOST sclerostin umls:C0029422 Osteochondrodysplasias 0.21 0 Biomarker CTD_human 6664 SOX11 SRY (sex determining region Y)-box 11 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 6664 SOX11 SRY (sex determining region Y)-box 11 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 6665 SOX15 SRY (sex determining region Y)-box 15 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 64321 SOX17 SRY (sex determining region Y)-box 17 umls:C0232910 Teratogenesis 0.21 1 Biomarker CTD_human 54345 SOX18 SRY (sex determining region Y)-box 18 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 54345 SOX18 SRY (sex determining region Y)-box 18 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6659 SOX4 SRY (sex determining region Y)-box 4 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6659 SOX4 SRY (sex determining region Y)-box 4 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 6660 SOX5 SRY (sex determining region Y)-box 5 umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 6660 SOX5 SRY (sex determining region Y)-box 5 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C0265998 Anonychia congenita 0.21 1 Biomarker CTD_human 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C0018566 Hand Deformities, Congenital 0.21 1 Biomarker CTD_human 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6667 SP1 Sp1 transcription factor umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 6667 SP1 Sp1 transcription factor umls:C0020456 Hyperglycemia 0.21 1 Biomarker CTD_human 6667 SP1 Sp1 transcription factor umls:C0037286 Skin Neoplasms 0.21 1 Biomarker CTD_human 389058 SP5 Sp5 transcription factor umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10615 SPAG5 sperm associated antigen 5 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0206686 Adrenocortical Carcinoma 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0019158 Hepatitis 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0024031 Low Back Pain 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0027659 Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 6678 SPARC secreted protein, acidic, cysteine-rich (osteonectin) umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 8404 SPARCL1 SPARC-like 1 (hevin) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 8404 SPARCL1 SPARC-like 1 (hevin) umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 374955 SPATA21 spermatogenesis associated 21 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 374955 SPATA21 spermatogenesis associated 21 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 166378 SPATA5 spermatogenesis associated 5 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 100379201 SPAX3 Ataxia, spastic, 3, autosomal recessive umls:C1969645 Ataxia, Spastic, 3, Autosomal Recessive 0.21 0 Biomarker CTD_human 57405 SPC25 SPC25, NDC80 kinetochore complex component umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 791255 SPDA2 Spondyloarthropathy, susceptibility to, 2 umls:C1866738 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2 0.21 0 Biomarker CTD_human 100379218 SPDA3 Spondylarthropathy, susceptibility to, 3 umls:C2750474 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3 0.21 0 Biomarker CTD_human 54908 SPDL1 spindle apparatus coiled-coil protein 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 57309 SPG14 spastic paraplegia 14 (autosomal recessive) umls:C1854568 Spastic paraplegia 14, autosomal recessive 0.21 0 Biomarker CTD_human 57760 SPG16 spastic paraplegia 16 (complicated, X-linked recessive) umls:C1846046 Spastic paraplegia 16, X-linked 0.21 0 Biomarker CTD_human 140906 SPG18 spastic paraplegia 18 (autosomal dominant) umls:C2749936 Spastic Paraplegia 18, Autosomal Recessive 0.21 0 Biomarker CTD_human 140907 SPG19 spastic paraplegia 19 (autosomal dominant) umls:C1846685 Spastic paraplegia 19, autosomal dominant 0.21 0 Biomarker CTD_human 23111 SPG20 spastic paraplegia 20 (Troyer syndrome) umls:C0279628 Adenocarcinoma Of Esophagus 0.21 1 Biomarker CTD_human 353293 SPG23 spastic paraplegia 23 (autosomal recessive) umls:C0796019 Spastic paraplegia 23 0.21 0 Biomarker CTD_human 338090 SPG24 spastic paraplegia 24 (autosomal recessive) umls:C2931354 Spastic paraplegia 24 0.21 0 Biomarker CTD_human 387583 SPG25 spastic paraplegia 25 (autosomal recessive, with disc herniation) umls:C2936860 Spastic paraplegia 25, autosomal recessive 0.21 0 Biomarker CTD_human 414886 SPG27 spastic paraplegia 27 (autosomal recessive) umls:C1836899 Spastic Paraplegia 27, Autosomal Recessive 0.21 0 Biomarker CTD_human 619379 SPG29 spastic paraplegia 29 (autosomal dominant) umls:C1857855 Spastic paraplegia 29, autosomal dominant 0.21 0 Biomarker CTD_human 724107 SPG32 spastic paraplegia 32 (autosomal recessive) umls:C1970009 Spastic Paraplegia 32, Autosomal Recessive 0.21 0 Biomarker CTD_human 724110 SPG34 spastic paraplegia 34 (autosomal dominant) umls:C2677897 Spastic Paraplegia 34, X-Linked 0.21 0 Biomarker CTD_human 791228 SPG36 spastic paraplegia 36 (autosomal dominant) umls:C2936879 Spastic Paraplegia 36, Autosomal Dominant 0.21 0 Biomarker CTD_human 100049159 SPG37 spastic paraplegia 37 (autosomal dominant) umls:C2936880 Spastic Paraplegia 37, Autosomal Dominant 0.21 0 Biomarker CTD_human 100049707 SPG38 spastic paraplegia 38 (autosomal dominant, Silver syndrome) umls:C2676732 Spastic Paraplegia 38, Autosomal Dominant 0.21 0 Biomarker CTD_human 100359402 SPG41 spastic paraplegia 41 (autosomal dominant) umls:C2680445 SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT 0.21 0 Biomarker CTD_human 100322879 SPG45 spastic paraplegia 45 (autosomal recessive) umls:C2680447 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 0.21 0 Biomarker CTD_human 6685 SPG5B spastic paraplegia 5B (autosomal recessive) umls:C2931357 Spastic paraplegia type 5B, recessive 0.21 0 Biomarker CTD_human 6687 SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) umls:C0030486 Paraplegia 0.21 1 Biomarker CTD_human 9193 SPG9 spastic paraplegia 9 (autosomal dominant) umls:C1832669 Spastic paraplegia 9, autosomal dominant 0.21 0 Biomarker CTD_human 8877 SPHK1 sphingosine kinase 1 umls:C0016059 Fibrosis 0.21 1 Therapeutic CTD_human 8877 SPHK1 sphingosine kinase 1 umls:C0026986 Myelodysplastic Syndromes 0.21 1 Biomarker CTD_human 54466 SPIN2A spindlin family, member 2A umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 54466 SPIN2A spindlin family, member 2A umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 11005 SPINK5 serine peptidase inhibitor, Kazal type 5 umls:C1840253 Ige Responsiveness, Atopic 0.21 0 Biomarker CTD_human 11005 SPINK5 serine peptidase inhibitor, Kazal type 5 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10653 SPINT2 serine peptidase inhibitor, Kunitz type, 2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 10653 SPINT2 serine peptidase inhibitor, Kunitz type, 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 10653 SPINT2 serine peptidase inhibitor, Kunitz type, 2 umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 10653 SPINT2 serine peptidase inhibitor, Kunitz type, 2 umls:C0032045 Placenta Diseases 0.21 1 Biomarker CTD_human 10653 SPINT2 serine peptidase inhibitor, Kunitz type, 2 umls:C0086468 Prenatal Injuries 0.21 1 Biomarker CTD_human 6693 SPN sialophorin umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 6693 SPN sialophorin umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 6695 SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10417 SPON2 spondin 2, extracellular matrix protein umls:C0085129 Bronchial Hyperreactivity 0.21 1 Biomarker CTD_human 10417 SPON2 spondin 2, extracellular matrix protein umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 10417 SPON2 spondin 2, extracellular matrix protein umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8405 SPOP speckle-type POZ protein umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 8405 SPOP speckle-type POZ protein umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C2609414 Acute Kidney Injury 0.21 2 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C2937358 Cerebral Hemorrhage 0.21 1 Therapeutic CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0853897 Diabetic Cardiomyopathies 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0017668 Glomerulosclerosis, Focal Segmental 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0270612 Leukoencephalopathies 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0221204 Osteolysis 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0030286 Pancreatic Diseases 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0032285 Pneumonia 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0034069 Pulmonary Fibrosis 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0178324 Vascular System Injuries 0.21 1 Biomarker CTD_human 6696 SPP1 secreted phosphoprotein 1 umls:C0043251 Wounds and Injuries 0.21 1 Therapeutic CTD_human 8090 SPPM scapuloperoneal syndrome, myopathic type umls:C0751337 Scapuloperoneal muscular dystrophy 0.21 0 Biomarker CTD_human 161742 SPRED1 sprouty-related, EVH1 domain containing 1 umls:C0497552 Nervous System Malformations 0.21 1 Biomarker CTD_human 6698 SPRR1A small proline-rich protein 1A umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 6698 SPRR1A small proline-rich protein 1A umls:C0030354 Papilloma 0.21 1 Biomarker CTD_human 6700 SPRR2A small proline-rich protein 2A umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 83932 SPRTN SprT-like N-terminal domain umls:C0919532 Genomic Instability 0.21 1 Biomarker CTD_human 83932 SPRTN SprT-like N-terminal domain umls:C0033300 Progeria 0.21 1 Biomarker CTD_human 10253 SPRY2 sprouty homolog 2 (Drosophila) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 10253 SPRY2 sprouty homolog 2 (Drosophila) umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 6709 SPTAN1 spectrin, alpha, non-erythrocytic 1 umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 6710 SPTB spectrin, beta, erythrocytic umls:C0002878 Anemia, Hemolytic 0.21 1 Biomarker CTD_human 6710 SPTB spectrin, beta, erythrocytic umls:C0002891 Anemia, Neonatal 0.21 1 Biomarker CTD_human 6711 SPTBN1 spectrin, beta, non-erythrocytic 1 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 57731 SPTBN4 spectrin, beta, non-erythrocytic 4 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 57731 SPTBN4 spectrin, beta, non-erythrocytic 4 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6713 SQLE squalene epoxidase umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 8878 SQSTM1 sequestosome 1 umls:C0242383 Macular Degeneration 0.21 1 Biomarker CTD_human 6714 SRC SRC proto-oncogene, non-receptor tyrosine kinase umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 6714 SRC SRC proto-oncogene, non-receptor tyrosine kinase umls:C0009319 Colitis 0.21 1 Biomarker CTD_human 6714 SRC SRC proto-oncogene, non-receptor tyrosine kinase umls:C0027626 Neoplasm Invasiveness 0.21 2 Biomarker CTD_human 6714 SRC SRC proto-oncogene, non-receptor tyrosine kinase umls:C0085548 Polycystic Kidney, Autosomal Recessive 0.21 1 Biomarker CTD_human 6714 SRC SRC proto-oncogene, non-receptor tyrosine kinase umls:C0005695 Urinary Bladder Neoplasms 0.21 2 Biomarker CTD_human 10847 SRCAP Snf2-related CREBBP activator protein umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 6715 SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) umls:C0014175 Endometriosis 0.21 2 Biomarker CTD_human 6715 SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6716 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) umls:C0002170 Alopecia 0.21 1 Biomarker CTD_human 6716 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 6716 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 79644 SRD5A3 steroid 5 alpha-reductase 3 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 6721 SREBF2 sterol regulatory element binding transcription factor 2 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 6721 SREBF2 sterol regulatory element binding transcription factor 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6721 SREBF2 sterol regulatory element binding transcription factor 2 umls:C0021655 Insulin Resistance 0.21 1 Biomarker CTD_human 6721 SREBF2 sterol regulatory element binding transcription factor 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6722 SRF serum response factor (c-fos serum response element-binding transcription factor) umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 6722 SRF serum response factor (c-fos serum response element-binding transcription factor) umls:C0027651 Neoplasms 0.21 1 Therapeutic CTD_human 9901 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 umls:C2931337 Chromosome 3, monosomy 3p25 0.21 1 Biomarker CTD_human 5552 SRGN serglycin umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6725 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 6730 SRP68 signal recognition particle 68kDa umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 6730 SRP68 signal recognition particle 68kDa umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 6730 SRP68 signal recognition particle 68kDa umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 8406 SRPX sushi-repeat containing protein, X-linked umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6426 SRSF1 serine/arginine-rich splicing factor 1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 6426 SRSF1 serine/arginine-rich splicing factor 1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 10772 SRSF10 serine/arginine-rich splicing factor 10 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 10772 SRSF10 serine/arginine-rich splicing factor 10 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 10772 SRSF10 serine/arginine-rich splicing factor 10 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6427 SRSF2 serine/arginine-rich splicing factor 2 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 6427 SRSF2 serine/arginine-rich splicing factor 2 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6427 SRSF2 serine/arginine-rich splicing factor 2 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6430 SRSF5 serine/arginine-rich splicing factor 5 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 6430 SRSF5 serine/arginine-rich splicing factor 5 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 8683 SRSF9 serine/arginine-rich splicing factor 9 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 100196919 SS3 Sarcoidosis, susceptibility to, 3 umls:C0036202 Sarcoidosis 0.21 0 Biomarker CTD_human 6742 SSBP1 single-stranded DNA binding protein 1, mitochondrial umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 6742 SSBP1 single-stranded DNA binding protein 1, mitochondrial umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 404713 SSD Speech-sound disorder umls:C1838022 Speech-Sound Disorder 0.21 0 Biomarker CTD_human 6745 SSR1 signal sequence receptor, alpha umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6746 SSR2 signal sequence receptor, beta (translocon-associated protein beta) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6750 SST somatostatin umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 6750 SST somatostatin umls:C0014849 Esophageal and Gastric Varices 0.21 1 Therapeutic CTD_human 6750 SST somatostatin umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 6750 SST somatostatin umls:C0020621 Hypokalemia 0.21 1 Therapeutic CTD_human 6750 SST somatostatin umls:C0026766 Multiple Organ Failure 0.21 1 Therapeutic CTD_human 6750 SST somatostatin umls:C0030305 Pancreatitis 0.21 1 Therapeutic CTD_human 6750 SST somatostatin umls:C0011993 Vipoma 0.21 1 Therapeutic CTD_human 6751 SSTR1 somatostatin receptor 1 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 6752 SSTR2 somatostatin receptor 2 umls:C0036572 Seizures 0.21 1 Therapeutic CTD_human 6752 SSTR2 somatostatin receptor 2 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 6753 SSTR3 somatostatin receptor 3 umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 6753 SSTR3 somatostatin receptor 3 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 6755 SSTR5 somatostatin receptor 5 umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 6756 SSX1 synovial sarcoma, X breakpoint 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6757 SSX2 synovial sarcoma, X breakpoint 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6757 SSX2 synovial sarcoma, X breakpoint 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 117178 SSX2IP synovial sarcoma, X breakpoint 2 interacting protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6759 SSX4 synovial sarcoma, X breakpoint 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 548313 SSX4B synovial sarcoma, X breakpoint 4B umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6768 ST14 suppression of tumorigenicity 14 (colon carcinoma) umls:C0265962 Netherton Syndrome 0.21 1 Biomarker CTD_human 6762 ST3 suppression of tumorigenicity 3 umls:C1860658 SUPPRESSOR OF TUMORIGENICITY 3 0.21 0 Biomarker CTD_human 6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 81849 ST6GALNAC5 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 6765 ST8 suppression of tumorigenicity 8 (ovarian) umls:C0919267 Ovarian Neoplasms 0.21 0 Biomarker CTD_human 6489 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 6489 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 6769 STAC SH3 and cysteine rich domain umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 10735 STAG2 stromal antigen 2 umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 10735 STAG2 stromal antigen 2 umls:C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 0.21 1 Biomarker CTD_human 10735 STAG2 stromal antigen 2 umls:C0023470 Leukemia, Myeloid 0.21 1 Biomarker CTD_human 10735 STAG2 stromal antigen 2 umls:C0005695 Urinary Bladder Neoplasms 0.21 3 Biomarker CTD_human 54441 STAG3L1 stromal antigen 3-like 1 (pseudogene) umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 54441 STAG3L1 stromal antigen 3-like 1 (pseudogene) umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 10617 STAMBP STAM binding protein umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 10617 STAMBP STAM binding protein umls:C1842180 Capillary Malformation-Arteriovenous Malformation 0.21 1 Biomarker CTD_human 10617 STAMBP STAM binding protein umls:C0008073 Developmental Disabilities 0.21 1 Biomarker CTD_human 10617 STAMBP STAM binding protein umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 10617 STAMBP STAM binding protein umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 10809 STARD10 StAR-related lipid transfer (START) domain containing 10 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10948 STARD3 StAR-related lipid transfer (START) domain containing 3 umls:C0033578 Prostatic Neoplasms 0.21 2 Biomarker CTD_human 9754 STARD8 StAR-related lipid transfer (START) domain containing 8 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 9754 STARD8 StAR-related lipid transfer (START) domain containing 8 umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C0010823 Cytomegalovirus Infections 0.21 1 Biomarker CTD_human 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C1384666 Hearing Loss 0.21 1 Biomarker CTD_human 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 6772 STAT1 signal transducer and activator of transcription 1, 91kDa umls:C0026919 Mycobacterium Infections, Nontuberculous 0.21 0 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0333641 Atrophy 0.21 1 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0018800 Cardiomegaly 0.21 2 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C3489795 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 0.21 0 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0024232 Lymphatic Metastasis 0.21 1 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0025261 Memory Disorders 0.21 1 Therapeutic CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 0.21 1 Biomarker CTD_human 6774 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 6775 STAT4 signal transducer and activator of transcription 4 umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 6776 STAT5A signal transducer and activator of transcription 5A umls:C1176475 Carcinoma, Ductal 0.21 1 Biomarker CTD_human 6776 STAT5A signal transducer and activator of transcription 5A umls:C0007124 Carcinoma, Intraductal, Noninfiltrating 0.21 1 Biomarker CTD_human 6776 STAT5A signal transducer and activator of transcription 5A umls:C0206692 Carcinoma, Lobular 0.21 1 Biomarker CTD_human 6776 STAT5A signal transducer and activator of transcription 5A umls:C0024667 Mammary Neoplasms, Animal 0.21 5 Biomarker CTD_human 6776 STAT5A signal transducer and activator of transcription 5A umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6776 STAT5A signal transducer and activator of transcription 5A umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 6777 STAT5B signal transducer and activator of transcription 5B umls:C2931322 T-Lymphocytopenia 0.21 1 Biomarker CTD_human 6778 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced umls:C0013604 Edema 0.21 1 Therapeutic CTD_human 6778 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 6778 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6779 STATH statherin umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 100188805 STBMS1 Strabismus, susceptibility to, 1 umls:C0038379 Strabismus 0.21 0 Biomarker CTD_human 8614 STC2 stanniocalcin 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 8614 STC2 stanniocalcin 2 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 100188748 STHAG5 tooth agenesis, selective, 5 umls:C1858210 Tooth Agenesis, Selective, 5 0.21 0 Biomarker CTD_human 6786 STIM1 stromal interaction molecule 1 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 57620 STIM2 stromal interaction molecule 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 10963 STIP1 stress-induced phosphoprotein 1 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 6794 STK11 serine/threonine kinase 11 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 6794 STK11 serine/threonine kinase 11 umls:C0149721 Hypertrophy, Left Ventricular 0.21 1 Biomarker CTD_human 6794 STK11 serine/threonine kinase 11 umls:C1257915 Intestinal Polyposis 0.21 1 Biomarker CTD_human 56164 STK31 serine/threonine kinase 31 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 3925 STMN1 stathmin 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 3925 STMN1 stathmin 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 64220 STRA6 stimulated by retinoic acid 6 umls:C2677362 Alveolar capillary dysplasia 0.21 1 Biomarker CTD_human 64220 STRA6 stimulated by retinoic acid 6 umls:C0243050 Cardiovascular Abnormalities 0.21 1 Biomarker CTD_human 64220 STRA6 stimulated by retinoic acid 6 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 64220 STRA6 stimulated by retinoic acid 6 umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 412 STS steroid sulfatase (microsomal), isozyme S umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Therapeutic CTD_human 412 STS steroid sulfatase (microsomal), isozyme S umls:C0015695 Fatty Liver 0.21 1 Therapeutic CTD_human 412 STS steroid sulfatase (microsomal), isozyme S umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 412 STS steroid sulfatase (microsomal), isozyme S umls:C0021655 Insulin Resistance 0.21 1 Therapeutic CTD_human 412 STS steroid sulfatase (microsomal), isozyme S umls:C0043094 Weight Gain 0.21 1 Therapeutic CTD_human 100049541 STUT1 Stuttering, familial persistent 1 umls:C3489627 STUTTERING, FAMILIAL PERSISTENT, 1 0.21 0 Biomarker CTD_human 100049543 STUT2 Stuttering, familial persistent 2 umls:C1836484 Stuttering, Familial Persistent 2 0.21 0 Biomarker CTD_human 8675 STX16 syntaxin 16 umls:C0033805 Pseudohypoaldosteronism 0.21 0 Biomarker CTD_human 2054 STX2 syntaxin 2 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 10228 STX6 syntaxin 6 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6812 STXBP1 syntaxin binding protein 1 umls:C0014550 Epilepsies, Myoclonic 0.21 1 Biomarker CTD_human 8803 SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit umls:C3149750 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 0.21 0 Biomarker CTD_human 8803 SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit umls:C3151513 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 0.21 0 Biomarker CTD_human 8803 SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 8802 SUCLG1 succinate-CoA ligase, alpha subunit umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 8802 SUCLG1 succinate-CoA ligase, alpha subunit umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 8801 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 8801 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit umls:C0268583 Methylmalonic acidemia 0.21 1 Biomarker CTD_human 8801 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 79783 SUGCT succinyl-CoA:glutarate-CoA transferase umls:C0149931 Migraine Disorders 0.21 1 Biomarker CTD_human 55959 SULF2 sulfatase 2 umls:C0014175 Endometriosis 0.21 2 Biomarker CTD_human 6817 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 umls:C0008625 Chromosome Aberrations 0.21 1 Biomarker CTD_human 6817 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 6817 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6799 SULT1A2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 umls:C0008625 Chromosome Aberrations 0.21 1 Biomarker CTD_human 6783 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 6822 SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 6822 SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6820 SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6820 SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 25830 SULT4A1 sulfotransferase family 4A, member 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7341 SUMO1 small ubiquitin-like modifier 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 387082 SUMO4 small ubiquitin-like modifier 4 umls:C1838260 Diabetes Mellitus, Insulin-Dependent, 5 0.21 0 Biomarker CTD_human 6832 SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae) umls:C0002170 Alopecia 0.21 1 Biomarker CTD_human 6832 SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae) umls:C0872084 Sarcopenia 0.21 1 Biomarker CTD_human 6832 SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae) umls:C0037268 Skin Abnormalities 0.21 1 Biomarker CTD_human 6834 SURF1 surfeit 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 6834 SURF1 surfeit 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 6834 SURF1 surfeit 1 umls:C1857355 Leigh syndrome , French Canadian type 0.21 1 Biomarker CTD_human 6836 SURF4 surfeit 4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 55061 SUSD4 sushi domain containing 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 23512 SUZ12 SUZ12 polycomb repressive complex 2 subunit umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 6840 SVIL supervillin umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 55530 SVOP SV2 related protein homolog (rat) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6847 SYCP1 synaptonemal complex protein 1 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 6847 SYCP1 synaptonemal complex protein 1 umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 6850 SYK spleen tyrosine kinase umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 8189 SYMPK symplekin umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 8189 SYMPK symplekin umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6854 SYN2 synapsin II umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 10492 SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 23345 SYNE1 spectrin repeat containing, nuclear envelope 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 23345 SYNE1 spectrin repeat containing, nuclear envelope 1 umls:C0009404 Colorectal Neoplasms 0.21 2 Biomarker CTD_human 23345 SYNE1 spectrin repeat containing, nuclear envelope 1 umls:C2931822 Nasopharyngeal carcinoma 0.21 1 Biomarker CTD_human 23345 SYNE1 spectrin repeat containing, nuclear envelope 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 23224 SYNE2 spectrin repeat containing, nuclear envelope 2 umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 23224 SYNE2 spectrin repeat containing, nuclear envelope 2 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 9145 SYNGR1 synaptogyrin 1 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 8871 SYNJ2 synaptojanin 2 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 100301527 SYNSTH Synesthesia umls:C0233778 Synesthesia 0.21 0 Biomarker CTD_human 6855 SYP synaptophysin umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.21 1 Biomarker CTD_human 6855 SYP synaptophysin umls:C0023186 Learning Disorders 0.21 1 Biomarker CTD_human 6855 SYP synaptophysin umls:C0025261 Memory Disorders 0.21 1 Biomarker CTD_human 6855 SYP synaptophysin umls:C1136249 Mental Retardation, X-Linked 0.21 1 Biomarker CTD_human 6856 SYPL1 synaptophysin-like 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 57586 SYT13 synaptotagmin XIII umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 6860 SYT4 synaptotagmin IV umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 10454 TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0002622 Amnesia 0.21 3 Therapeutic CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0085129 Bronchial Hyperreactivity 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0010034 Corneal Diseases 0.21 1 Therapeutic CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0013604 Edema 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0015379 Extravasation of Diagnostic and Therapeutic Materials 0.21 2 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0020429 Hyperalgesia 0.21 9 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0020452 Hyperemia 0.21 2 Therapeutic CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0338480 Migraine without Aura 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0027404 Narcolepsy 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0027796 Neuralgia 0.21 1 Biomarker CTD_human 6863 TAC1 tachykinin, precursor 1 umls:C0037036 Sialorrhea 0.21 1 Biomarker CTD_human 6866 TAC3 tachykinin 3 umls:C0020619 Hypogonadism 0.21 1 Biomarker CTD_human 6866 TAC3 tachykinin 3 umls:C0342384 Idiopathic Hypogonadotropic Hypogonadism 0.21 0 Biomarker CTD_human 10460 TACC3 transforming, acidic coiled-coil containing protein 3 umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 51204 TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I umls:C0268237 Cytochrome-c Oxidase Deficiency 0.21 1 Biomarker CTD_human 6869 TACR1 tachykinin receptor 1 umls:C0428977 Bradycardia 0.21 1 Therapeutic CTD_human 6869 TACR1 tachykinin receptor 1 umls:C0006261 Bronchial Diseases 0.21 1 Biomarker CTD_human 6869 TACR1 tachykinin receptor 1 umls:C0020429 Hyperalgesia 0.21 2 Biomarker CTD_human 6869 TACR1 tachykinin receptor 1 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 6869 TACR1 tachykinin receptor 1 umls:C0038587 Substance Withdrawal Syndrome 0.21 1 Biomarker CTD_human 6865 TACR2 tachykinin receptor 2 umls:C0006261 Bronchial Diseases 0.21 1 Biomarker CTD_human 6870 TACR3 tachykinin receptor 3 umls:C0020619 Hypogonadism 0.21 1 Biomarker CTD_human 6870 TACR3 tachykinin receptor 3 umls:C0342384 Idiopathic Hypogonadotropic Hypogonadism 0.21 0 Biomarker CTD_human 4070 TACSTD2 tumor-associated calcium signal transducer 2 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 8148 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 8148 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa umls:C0029463 Osteosarcoma 0.21 1 Biomarker CTD_human 8148 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 79101 TAF1D TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 79101 TAF1D TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 6880 TAF9 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6880 TAF9 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 117289 TAGAP T-cell activation RhoGTPase activating protein umls:C2675865 Diabetes Mellitus, Insulin-Dependent, 21 0.21 0 Biomarker CTD_human 117289 TAGAP T-cell activation RhoGTPase activating protein umls:C0033860 Psoriasis 0.21 1 Biomarker CTD_human 6876 TAGLN transgelin umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 6876 TAGLN transgelin umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 6876 TAGLN transgelin umls:C0023794 Lipidoses 0.21 3 Biomarker CTD_human 8407 TAGLN2 transgelin 2 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 6888 TALDO1 transaldolase 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 6888 TALDO1 transaldolase 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 6888 TALDO1 transaldolase 1 umls:C0030567 Parkinson Disease 0.21 1 Biomarker CTD_human 8205 TAM Myeloproliferative syndrome, transient (transient abnormal umls:C1834582 Myeloproliferative Syndrome, Transient 0.21 0 Biomarker CTD_human 10010 TANK TRAF family member-associated NFKB activator umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 57551 TAOK1 TAO kinase 1 umls:C0018781 Hearing Loss, Noise-Induced 0.21 1 Biomarker CTD_human 6890 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6891 TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 6893 TAPVR1 total anomalous pulmonary venous return 1 umls:C0036400 Scimitar Syndrome 0.21 0 Biomarker CTD_human 23435 TARDBP TAR DNA binding protein umls:C3502417 Amyotrophic Lateral Sclerosis 10 0.21 0 Biomarker CTD_human 83756 TAS1R3 taste receptor, type 1, member 3 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 5726 TAS2R38 taste receptor, type 2, member 38 umls:C1868397 THIOUREA TASTING 0.21 0 Biomarker CTD_human 338398 TAS2R60 taste receptor, type 2, member 60 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 83940 TATDN1 TatD DNase domain containing 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 57465 TBC1D24 TBC1 domain family, member 24 umls:C0751778 Myoclonic Epilepsies, Progressive 0.21 1 Biomarker CTD_human 6902 TBCA tubulin folding cofactor A umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Biomarker CTD_human 6905 TBCE tubulin folding cofactor E umls:C0004623 Bacterial Infections 0.21 1 Biomarker CTD_human 6905 TBCE tubulin folding cofactor E umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 6905 TBCE tubulin folding cofactor E umls:C0282631 Facies 0.21 1 Biomarker CTD_human 6907 TBL1X transducin (beta)-like 1X-linked umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 79718 TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 6908 TBP TATA box binding protein umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 6899 TBX1 T-box 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6913 TBX15 T-box 15 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 6913 TBX15 T-box 15 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 9095 TBX19 T-box 19 umls:C0001973 Alcoholism 0.21 1 Biomarker CTD_human 30009 TBX21 T-box 21 umls:C1859648 Asthma, Nasal Polyps, And Aspirin Intolerance 0.21 0 Biomarker CTD_human 30009 TBX21 T-box 21 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 6926 TBX3 T-box 3 umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 6926 TBX3 T-box 3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 6926 TBX3 T-box 3 umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 6926 TBX3 T-box 3 umls:C0040427 Tooth Abnormalities 0.21 1 Biomarker CTD_human 6911 TBX6 T-box 6 umls:C1853223 Deafness, Autosomal Recessive 67 0.21 0 Biomarker CTD_human 6915 TBXA2R thromboxane A2 receptor umls:C0005818 Blood Platelet Disorders 0.21 2 Biomarker CTD_human 6915 TBXA2R thromboxane A2 receptor umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 6915 TBXA2R thromboxane A2 receptor umls:C0019087 Hemorrhagic Disorders 0.21 1 Biomarker CTD_human 6915 TBXA2R thromboxane A2 receptor umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 6915 TBXA2R thromboxane A2 receptor umls:C0034065 Pulmonary Embolism 0.21 1 Biomarker CTD_human 6916 TBXAS1 thromboxane A synthase 1 (platelet) umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 6916 TBXAS1 thromboxane A synthase 1 (platelet) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6919 TCEA2 transcription elongation factor A (SII), 2 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 56849 TCEAL7 transcription elongation factor A (SII)-like 7 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6921 TCEB1 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 256536 TCERG1L transcription elongation regulator 1-like umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 6939 TCF15 transcription factor 15 (basic helix-loop-helix) umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 6941 TCF19 transcription factor 19 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 6925 TCF4 transcription factor 4 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 6925 TCF4 transcription factor 4 umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 6925 TCF4 transcription factor 4 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 6925 TCF4 transcription factor 4 umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 83439 TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 83439 TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) umls:C0040136 Thyroid Neoplasms 0.21 1 Biomarker CTD_human 6934 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 10732 TCFL5 transcription factor-like 5 (basic helix-loop-helix) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 9623 TCL1B T-cell leukemia/lymphoma 1B umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 9623 TCL1B T-cell leukemia/lymphoma 1B umls:C0027627 Neoplasm Metastasis 0.21 1 Biomarker CTD_human 6947 TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) umls:C0002888 Anemia, Megaloblastic 0.21 1 Biomarker CTD_human 6948 TCN2 transcobalamin II umls:C0001430 Adenoma 0.21 1 Biomarker CTD_human 6948 TCN2 transcobalamin II umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 6948 TCN2 transcobalamin II umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 6948 TCN2 transcobalamin II umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 6948 TCN2 transcobalamin II umls:C0270612 Leukoencephalopathies 0.21 1 Biomarker CTD_human 6948 TCN2 transcobalamin II umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 6948 TCN2 transcobalamin II umls:C1420653 TRANSCOBALAMIN II 0.21 0 Biomarker CTD_human 50975 TCO Thyroid carcinoma, nonmedullary, with cell oxyphilia umls:C1863925 Nonmedullary thyroid carcinoma, with or without cell oxyphilia 0.21 0 Biomarker CTD_human 6950 TCP1 t-complex 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 140892 TCPT thrombocytopenia, Paris-Trousseau type umls:C1861178 Thrombocytopenia Paris-Trousseau type 0.21 0 Biomarker CTD_human 79600 TCTN1 tectonic family member 1 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 6997 TDGF1 teratocarcinoma-derived growth factor 1 umls:C3178805 Heterotaxy Syndrome 0.21 1 Biomarker CTD_human 6997 TDGF1 teratocarcinoma-derived growth factor 1 umls:C0079541 Holoprosencephaly 0.21 1 Biomarker CTD_human 6999 TDO2 tryptophan 2,3-dioxygenase umls:C0038187 Starvation 0.21 1 Biomarker CTD_human 23424 TDRD7 tudor domain containing 7 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 23424 TDRD7 tudor domain containing 7 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 8463 TEAD2 TEA domain family member 2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 9895 TECPR2 tectonin beta-propeller repeat containing 2 umls:C0037773 Spastic Paraplegia, Hereditary 0.21 1 Biomarker CTD_human 7007 TECTA tectorin alpha umls:C1863655 Deafness, Autosomal Recessive 21 0.21 0 Biomarker CTD_human 7010 TEK TEK tyrosine kinase, endothelial umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 7010 TEK TEK tyrosine kinase, endothelial umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 146279 TEKT5 tektin 5 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 338411 TELAB1 telangiectasia, benign 1 umls:C0406502 Telangiectasia, Hereditary Benign 0.21 0 Biomarker CTD_human 57451 TENM2 teneurin transmembrane protein 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 55714 TENM3 teneurin transmembrane protein 3 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 7012 TERC telomerase RNA component umls:C0033578 Prostatic Neoplasms 0.21 1 Therapeutic CTD_human 7012 TERC telomerase RNA component umls:C0040411 Tongue Neoplasms 0.21 1 Therapeutic CTD_human 7015 TERT telomerase reverse transcriptase umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 7015 TERT telomerase reverse transcriptase umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 7015 TERT telomerase reverse transcriptase umls:C0023448 Leukemia, Lymphoid 0.21 1 Biomarker CTD_human 7015 TERT telomerase reverse transcriptase umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 54790 TET2 tet methylcytosine dioxygenase 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 51368 TEX264 testis expressed 264 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0152013 Adenocarcinoma of lung 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0001973 Alcoholism 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0271901 Anemia, hypochromic microcytic 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0007097 Carcinoma 0.21 2 Biomarker CTD_human 7018 TF transferrin umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0015695 Fatty Liver 0.21 2 Biomarker CTD_human 7018 TF transferrin umls:C0282193 Iron Overload 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 7018 TF transferrin umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 7018 TF transferrin umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0027726 Nephrotic Syndrome 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0030524 Paratuberculosis 0.21 1 Biomarker CTD_human 7018 TF transferrin umls:C0035258 Restless Legs Syndrome 0.21 1 Biomarker CTD_human 7019 TFAM transcription factor A, mitochondrial umls:C0006079 Bowen's Disease 0.21 1 Biomarker CTD_human 7019 TFAM transcription factor A, mitochondrial umls:C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 0.21 1 Biomarker CTD_human 7020 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) umls:C0265234 Branchio-Oto-Renal Syndrome 0.21 1 Biomarker CTD_human 7020 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 7020 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 7020 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 7021 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) umls:C0005910 Body Weight 0.21 1 Biomarker CTD_human 7021 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 7021 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) umls:C0018566 Hand Deformities, Congenital 0.21 1 Biomarker CTD_human 7022 TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 22797 TFEC transcription factor EC umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7031 TFF1 trefoil factor 1 umls:C0242488 Acute Lung Injury 0.21 1 Biomarker CTD_human 7031 TFF1 trefoil factor 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7032 TFF2 trefoil factor 2 umls:C0242488 Acute Lung Injury 0.21 1 Biomarker CTD_human 7033 TFF3 trefoil factor 3 (intestinal) umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 7033 TFF3 trefoil factor 3 (intestinal) umls:C0019188 Hepatitis, Animal 0.21 1 Biomarker CTD_human 7033 TFF3 trefoil factor 3 (intestinal) umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 7033 TFF3 trefoil factor 3 (intestinal) umls:C0333355 Mucositis 0.21 1 Therapeutic CTD_human 10342 TFG TRK-fused gene umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7035 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) umls:C0003130 Anoxia 0.21 1 Therapeutic CTD_human 7035 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7035 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) umls:C0034155 Purpura, Thrombotic Thrombocytopenic 0.21 1 Biomarker CTD_human 7980 TFPI2 tissue factor pathway inhibitor 2 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 7980 TFPI2 tissue factor pathway inhibitor 2 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0003756 Arenaviridae Infections 0.21 1 Therapeutic CTD_human 7037 TFRC transferrin receptor umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0079487 Helicobacter Infections 0.21 2 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0012715 Iron Metabolism Disorders 0.21 2 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0024305 Lymphoma, Non-Hodgkin 0.21 1 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0028754 Obesity 0.21 2 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7037 TFRC transferrin receptor umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 50830 TGCT1 testicular germ cell tumor susceptibility 1 umls:C1846164 Testicular Germ Cell Tumor 1 0.21 0 Biomarker CTD_human 7039 TGFA transforming growth factor, alpha umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 7039 TGFA transforming growth factor, alpha umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 7039 TGFA transforming growth factor, alpha umls:C0273115 Lung Injury 0.21 1 Therapeutic CTD_human 7039 TGFA transforming growth factor, alpha umls:C0027746 Nerve Degeneration 0.21 1 Therapeutic CTD_human 7039 TGFA transforming growth factor, alpha umls:C0034063 Pulmonary Edema 0.21 1 Therapeutic CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0265287 Acromicric dysplasia 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0242488 Acute Lung Injury 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0003504 Aortic Valve Insufficiency 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0007140 Carcinosarcoma 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0013238 Dry Eye Syndromes 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 7040 TGFB1 transforming growth factor, beta 1 umls:C0600519 Ventricular Remodeling 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0003504 Aortic Valve Insufficiency 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0010520 Cyanosis 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0206762 Limb Deformities, Congenital 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0151491 Musculoskeletal Abnormalities 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0035238 Respiratory System Abnormalities 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0041956 Ureteral Obstruction 0.21 1 Biomarker CTD_human 7042 TGFB2 transforming growth factor, beta 2 umls:C0042063 Urogenital Abnormalities 0.21 1 Biomarker CTD_human 7043 TGFB3 transforming growth factor, beta 3 umls:C0035238 Respiratory System Abnormalities 0.21 1 Biomarker CTD_human 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 7045 TGFBI transforming growth factor, beta-induced, 68kDa umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C1836743 Auditory Neuropathy, Autosomal Dominant, 1 0.21 0 Biomarker CTD_human 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0005940 Bone Diseases 0.21 1 Biomarker CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0005967 Bone Neoplasms 0.21 1 Therapeutic CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0376634 Craniofacial Abnormalities 0.21 2 Biomarker CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0015672 Fatigue 0.21 1 Biomarker CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0016658 Fractures, Bone 0.21 1 Biomarker CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0019294 Hernia, Inguinal 0.21 1 Biomarker CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0920269 Microsatellite Instability 0.21 1 Biomarker CTD_human 7051 TGM1 transglutaminase 1 umls:C1855792 Ichthyosiform erythroderma, Brocq congenital, nonbullous form 0.21 0 Biomarker CTD_human 7051 TGM1 transglutaminase 1 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 7051 TGM1 transglutaminase 1 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 7051 TGM1 transglutaminase 1 umls:C0042842 Vitamin A Deficiency 0.21 1 Biomarker CTD_human 7052 TGM2 transglutaminase 2 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 7052 TGM2 transglutaminase 2 umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 9333 TGM5 transglutaminase 5 umls:C1849193 Peeling Skin Syndrome 0.21 0 Biomarker CTD_human 10618 TGOLN2 trans-golgi network protein 2 umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 7054 TH tyrosine hydroxylase umls:C0006111 Brain Diseases 0.21 1 Therapeutic CTD_human 7054 TH tyrosine hydroxylase umls:C0007370 Catalepsy 0.21 2 Biomarker CTD_human 7054 TH tyrosine hydroxylase umls:C0013386 Dyskinesia, Drug-Induced 0.21 1 Therapeutic CTD_human 7054 TH tyrosine hydroxylase umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 7054 TH tyrosine hydroxylase umls:C0424295 Hyperkinesis 0.21 1 Biomarker CTD_human 7054 TH tyrosine hydroxylase umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 7054 TH tyrosine hydroxylase umls:C0023186 Learning Disorders 0.21 2 Biomarker CTD_human 7054 TH tyrosine hydroxylase umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 90326 THAP3 THAP domain containing, apoptosis associated protein 3 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0002902 Anencephaly 0.21 1 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0008924 Cleft Lip 0.21 1 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0018798 Heart Defects, Congenital 0.21 2 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0019326 Hernia, Ventral 0.21 1 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0020255 Hydrocephalus 0.21 1 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0024115 Lung Diseases 0.21 1 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0559483 Pentalogy of Cantrell 0.21 1 Biomarker CTD_human 7055 THAS thoracoabdominal syndrome umls:C0039978 Thoracic Diseases 0.21 1 Biomarker CTD_human 7056 THBD thrombomodulin umls:C0034155 Purpura, Thrombotic Thrombocytopenic 0.21 1 Biomarker CTD_human 7056 THBD thrombomodulin umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7057 THBS1 thrombospondin 1 umls:C0016059 Fibrosis 0.21 1 Biomarker CTD_human 7057 THBS1 thrombospondin 1 umls:C0027707 Nephritis, Interstitial 0.21 1 Biomarker CTD_human 7057 THBS1 thrombospondin 1 umls:C0035126 Reperfusion Injury 0.21 1 Biomarker CTD_human 7058 THBS2 thrombospondin 2 umls:C0158252 Intervertebral disc disease 0.21 0 Biomarker CTD_human 84434 THCYTX Thrombocytosis, familial X-linked umls:C1845888 THROMBOCYTHEMIA, X-LINKED 0.21 0 Biomarker CTD_human 117145 THEM4 thioesterase superfamily member 4 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Therapeutic CTD_human 9473 THEMIS2 thymocyte selection associated family member 2 umls:C1458155 Breast Neoplasms 0.21 1 Therapeutic CTD_human 7063 THM thymoma umls:C1848814 Thymoma, Familial 0.21 0 Biomarker CTD_human 7066 THPO thrombopoietin umls:C0878544 Cardiomyopathies 0.21 1 Therapeutic CTD_human 7067 THRA thyroid hormone receptor, alpha umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 7067 THRA thyroid hormone receptor, alpha umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 7068 THRB thyroid hormone receptor, beta umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 7068 THRB thyroid hormone receptor, beta umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 7069 THRSP thyroid hormone responsive umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 7069 THRSP thyroid hormone responsive umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7069 THRSP thyroid hormone responsive umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 79875 THSD4 thrombospondin, type I, domain containing 4 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 29087 THYN1 thymocyte nuclear protein 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7074 TIAM1 T-cell lymphoma invasion and metastasis 1 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 26230 TIAM2 T-cell lymphoma invasion and metastasis 2 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 353376 TICAM2 toll-like receptor adaptor molecule 2 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 90381 TICRR TOPBP1-interacting checkpoint and replication regulator umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 91937 TIMD4 T-cell immunoglobulin and mucin domain containing 4 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 8914 TIMELESS timeless circadian clock umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0003504 Aortic Valve Insufficiency 0.21 1 Biomarker CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0006663 Calcinosis 0.21 1 Biomarker CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0018824 Heart Valve Diseases 0.21 1 Biomarker CTD_human 7076 TIMP1 TIMP metallopeptidase inhibitor 1 umls:C0023891 Liver Cirrhosis, Alcoholic 0.21 1 Biomarker CTD_human 7077 TIMP2 TIMP metallopeptidase inhibitor 2 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 7077 TIMP2 TIMP metallopeptidase inhibitor 2 umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Biomarker CTD_human 7078 TIMP3 TIMP metallopeptidase inhibitor 3 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 7078 TIMP3 TIMP metallopeptidase inhibitor 3 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 7078 TIMP3 TIMP metallopeptidase inhibitor 3 umls:C0235032 Neurotoxicity Syndromes 0.21 1 Biomarker CTD_human 7078 TIMP3 TIMP metallopeptidase inhibitor 3 umls:C0036323 Schistosomiasis 0.21 1 Biomarker CTD_human 7078 TIMP3 TIMP metallopeptidase inhibitor 3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7078 TIMP3 TIMP metallopeptidase inhibitor 3 umls:C0005686 Urinary Bladder Diseases 0.21 1 Biomarker CTD_human 27283 TINAG tubulointerstitial nephritis antigen umls:C0011881 Diabetic Nephropathies 0.21 1 Biomarker CTD_human 27283 TINAG tubulointerstitial nephritis antigen umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 26277 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 umls:C0007760 Cerebellar Diseases 0.21 1 Biomarker CTD_human 26277 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 umls:C0018273 Growth Disorders 0.21 1 Biomarker CTD_human 26277 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 umls:C0027339 Nail Diseases 0.21 1 Biomarker CTD_human 114609 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein umls:C0004610 Bacteremia 0.21 1 Biomarker CTD_human 114609 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein umls:C1835828 Invasive Pneumococcal Disease, Recurrent Isolated, 1 0.21 0 Biomarker CTD_human 114609 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.21 0 Biomarker CTD_human 114609 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein umls:C0032269 Pneumococcal Infections 0.21 1 Biomarker CTD_human 114609 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 9414 TJP2 tight junction protein 2 umls:C0008372 Cholestasis, Intrahepatic 0.21 1 Biomarker CTD_human 9414 TJP2 tight junction protein 2 umls:C1384666 Hearing Loss 0.21 1 Biomarker CTD_human 27134 TJP3 tight junction protein 3 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7083 TK1 thymidine kinase 1, soluble umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7084 TK2 thymidine kinase 2, mitochondrial umls:C3151513 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 0.21 0 Biomarker CTD_human 7085 TKCR torticollis, keloids, cryptorchidism and renal dysplasia umls:C1839129 Torticollis keloids cryptorchidism renal dysplasia 0.21 0 Biomarker CTD_human 7086 TKT transketolase umls:C0003130 Anoxia 0.21 1 Biomarker CTD_human 7086 TKT transketolase umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 7086 TKT transketolase umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7086 TKT transketolase umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7086 TKT transketolase umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 7090 TLE3 transducin-like enhancer of split 3 umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 7090 TLE3 transducin-like enhancer of split 3 umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 7090 TLE3 transducin-like enhancer of split 3 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 7091 TLE4 transducin-like enhancer of split 4 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7091 TLE4 transducin-like enhancer of split 4 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7091 TLE4 transducin-like enhancer of split 4 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 9874 TLK1 tousled-like kinase 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 9874 TLK1 tousled-like kinase 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9874 TLK1 tousled-like kinase 1 umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 7094 TLN1 talin 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 7094 TLN1 talin 1 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 83660 TLN2 talin 2 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7096 TLR1 toll-like receptor 1 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 7097 TLR2 toll-like receptor 2 umls:C0878544 Cardiomyopathies 0.21 1 Biomarker CTD_human 7097 TLR2 toll-like receptor 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7098 TLR3 toll-like receptor 3 umls:C1864205 Macular Degeneration, Age-Related, 1 0.21 0 Biomarker CTD_human 7099 TLR4 toll-like receptor 4 umls:C0011616 Dermatitis, Contact 0.21 1 Biomarker CTD_human 7099 TLR4 toll-like receptor 4 umls:C1384666 Hearing Loss 0.21 1 Biomarker CTD_human 7099 TLR4 toll-like receptor 4 umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 7099 TLR4 toll-like receptor 4 umls:C1969108 Macular Degeneration, Age-Related, 10 0.21 0 Biomarker CTD_human 7099 TLR4 toll-like receptor 4 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 7099 TLR4 toll-like receptor 4 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 7099 TLR4 toll-like receptor 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7099 TLR4 toll-like receptor 4 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 7100 TLR5 toll-like receptor 5 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 51284 TLR7 toll-like receptor 7 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 51311 TLR8 toll-like receptor 8 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 54106 TLR9 toll-like receptor 9 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 54106 TLR9 toll-like receptor 9 umls:C0018193 Granuloma, Foreign-Body 0.21 1 Biomarker CTD_human 54106 TLR9 toll-like receptor 9 umls:C0018200 Granuloma, Respiratory Tract 0.21 1 Biomarker CTD_human 54106 TLR9 toll-like receptor 9 umls:C0036330 Schistosomiasis mansoni 0.21 1 Biomarker CTD_human 3195 TLX1 T-cell leukemia homeobox 1 umls:C0002938 Aneuploidy 0.21 1 Biomarker CTD_human 3195 TLX1 T-cell leukemia homeobox 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 3195 TLX1 T-cell leukemia homeobox 1 umls:C0037997 Splenic Diseases 0.21 1 Biomarker CTD_human 7104 TM4SF4 transmembrane 4 L six family member 4 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 9375 TM9SF2 transmembrane 9 superfamily member 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 51643 TMBIM4 transmembrane BAX inhibitor motif containing 4 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 54499 TMCO1 transmembrane and coiled-coil domains 1 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 54499 TMCO1 transmembrane and coiled-coil domains 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 54499 TMCO1 transmembrane and coiled-coil domains 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 54499 TMCO1 transmembrane and coiled-coil domains 1 umls:C0151491 Musculoskeletal Abnormalities 0.21 1 Biomarker CTD_human 54499 TMCO1 transmembrane and coiled-coil domains 1 umls:C0040427 Tooth Abnormalities 0.21 1 Biomarker CTD_human 10959 TMED2 transmembrane emp24 domain trafficking protein 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10959 TMED2 transmembrane emp24 domain trafficking protein 2 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 50999 TMED5 transmembrane emp24 protein transport domain containing 5 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 23671 TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 55273 TMEM100 transmembrane protein 100 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 114795 TMEM132B transmembrane protein 132B umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 121256 TMEM132D transmembrane protein 132D umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 121256 TMEM132D transmembrane protein 132D umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 121256 TMEM132D transmembrane protein 132D umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 65084 TMEM135 transmembrane protein 135 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 65084 TMEM135 transmembrane protein 135 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 256472 TMEM151A transmembrane protein 151A umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 441151 TMEM151B transmembrane protein 151B umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 340061 TMEM173 transmembrane protein 173 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 84866 TMEM25 transmembrane protein 25 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 57393 TMEM27 transmembrane protein 27 umls:C0041956 Ureteral Obstruction 0.21 1 Biomarker CTD_human 55754 TMEM30A transmembrane protein 30A umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 161291 TMEM30B transmembrane protein 30B umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 140738 TMEM37 transmembrane protein 37 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 140738 TMEM37 transmembrane protein 37 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 79188 TMEM43 transmembrane protein 43 umls:C0085298 Death, Sudden, Cardiac 0.21 1 Biomarker CTD_human 55219 TMEM57 transmembrane protein 57 umls:C0242339 Dyslipidemias 0.21 1 Biomarker CTD_human 25789 TMEM59L transmembrane protein 59-like umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 9725 TMEM63A transmembrane protein 63A umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 9725 TMEM63A transmembrane protein 63A umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 91147 TMEM67 transmembrane protein 67 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 54968 TMEM70 transmembrane protein 70 umls:C3276276 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 0.21 0 Biomarker CTD_human 54968 TMEM70 transmembrane protein 70 umls:C0162666 Mitochondrial Encephalomyopathies 0.21 1 Biomarker CTD_human 26022 TMEM98 transmembrane protein 98 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7110 TMF1 TATA element modulatory factor 1 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7111 TMOD1 tropomodulin 1 umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 7111 TMOD1 tropomodulin 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7112 TMPO thymopoietin umls:C0003873 Arthritis, Rheumatoid 0.21 1 Biomarker CTD_human 7112 TMPO thymopoietin umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7112 TMPO thymopoietin umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 344805 TMPRSS7 transmembrane protease, serine 7 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 9168 TMSB10 thymosin beta 10 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 7114 TMSB4X thymosin beta 4, X-linked umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 7114 TMSB4X thymosin beta 4, X-linked umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 81542 TMX1 thioredoxin-related transmembrane protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 3371 TNC tenascin C umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 3371 TNC tenascin C umls:C0032226 Pleural Diseases 0.21 1 Biomarker CTD_human 3371 TNC tenascin C umls:C0042345 Varicose Veins 0.21 1 Biomarker CTD_human 7952 TNDM diabetes mellitus, transient neonatal umls:C1832386 Diabetes Mellitus, Transient Neonatal, 1 0.21 0 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C2609414 Acute Kidney Injury 0.21 3 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0270611 Brain Injuries 0.21 2 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0018800 Cardiomegaly 0.21 3 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0206617 Cardiovirus Infections 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0853897 Diabetic Cardiomyopathies 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0079218 Fibromatosis, Aggressive 0.21 1 Therapeutic CTD_human 7124 TNF tumor necrosis factor umls:C0018843 Heat Stroke 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0019061 Hemolytic-Uremic Syndrome 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0019151 Hepatic Encephalopathy 0.21 2 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0020433 Hyperbilirubinemia 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0598608 Hyperhomocysteinemia 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0020615 Hypoglycemia 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0020649 Hypotension 0.21 2 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0677050 Manganese Poisoning 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0162670 Mitochondrial Myopathies 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0206146 Myocardial Stunning 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0027497 Nausea 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0027540 Necrosis 0.21 3 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0027659 Neoplasms, Experimental 0.21 3 Therapeutic CTD_human 7124 TNF tumor necrosis factor umls:C0027746 Nerve Degeneration 0.21 2 Biomarker, Therapeutic CTD_human 7124 TNF tumor necrosis factor umls:C0032045 Placenta Diseases 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C1855456 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL 0.21 0 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0032963 Pregnancy Complications, Cardiovascular 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0034063 Pulmonary Edema 0.21 1 Therapeutic CTD_human 7124 TNF tumor necrosis factor umls:C0034531 Radiation Injuries, Experimental 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0036982 Shock, Hemorrhagic 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0037579 Soft Tissue Neoplasms 0.21 2 Therapeutic CTD_human 7124 TNF tumor necrosis factor umls:C0037926 Spinal Cord Compression 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0178324 Vascular System Injuries 0.21 1 Biomarker CTD_human 7124 TNF tumor necrosis factor umls:C0242973 Ventricular Dysfunction 0.21 2 Biomarker CTD_human 7126 TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) umls:C0011881 Diabetic Nephropathies 0.21 1 Biomarker CTD_human 7128 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 7128 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 umls:C0024301 Lymphoma, Follicular 0.21 1 Biomarker CTD_human 7128 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 umls:C1527336 Sjogren's Syndrome 0.21 2 Biomarker CTD_human 7130 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 7130 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 umls:C0162820 Dermatitis, Allergic Contact 0.21 2 Biomarker CTD_human 7130 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 7130 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 7130 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 25816 TNFAIP8 tumor necrosis factor, alpha-induced protein 8 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0002170 Alopecia 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0002871 Anemia 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0003123 Anorexia 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0013182 Drug Hypersensitivity 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0015672 Fatigue 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0027497 Nausea 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0027947 Neutropenia 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8797 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a umls:C0040034 Thrombocytopenia 0.21 1 Biomarker CTD_human 8795 TNFRSF10B tumor necrosis factor receptor superfamily, member 10b umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 8795 TNFRSF10B tumor necrosis factor receptor superfamily, member 10b umls:C0030297 Pancreatic Neoplasms 0.21 1 Therapeutic CTD_human 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0005974 Bone Resorption 0.21 3 Biomarker, Therapeutic CTD_human 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0020429 Hyperalgesia 0.21 1 Therapeutic CTD_human 4982 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b umls:C0221204 Osteolysis 0.21 1 Therapeutic CTD_human 51330 TNFRSF12A tumor necrosis factor receptor superfamily, member 12A umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 51330 TNFRSF12A tumor necrosis factor receptor superfamily, member 12A umls:C0027051 Myocardial Infarction 0.21 1 Biomarker CTD_human 23495 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 115650 TNFRSF13C tumor necrosis factor receptor superfamily, member 13C umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 8764 TNFRSF14 tumor necrosis factor receptor superfamily, member 14 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 8784 TNFRSF18 tumor necrosis factor receptor superfamily, member 18 umls:C0023281 Leishmaniasis 0.21 1 Biomarker CTD_human 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0003123 Anorexia 0.21 1 Therapeutic CTD_human 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0242706 Hyperoxia 0.21 1 Biomarker CTD_human 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C0273115 Lung Injury 0.21 1 Biomarker CTD_human 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0020517 Hypersensitivity 0.21 1 Biomarker CTD_human 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0239981 Hypoalbuminemia 0.21 1 Biomarker CTD_human 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 7133 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B umls:C0400966 Non-alcoholic Fatty Liver Disease 0.21 1 Biomarker CTD_human 27242 TNFRSF21 tumor necrosis factor receptor superfamily, member 21 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 27242 TNFRSF21 tumor necrosis factor receptor superfamily, member 21 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0022665 Kidney Neoplasms 0.21 1 Therapeutic CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0027659 Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 8743 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 umls:C0027686 Neovascularization, Pathologic 0.21 2 Therapeutic CTD_human 8600 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 umls:C0221204 Osteolysis 0.21 1 Biomarker CTD_human 8741 TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 944 TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 8744 TNFSF9 tumor necrosis factor (ligand) superfamily, member 9 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 23043 TNIK TRAF2 and NCK interacting kinase umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 23043 TNIK TRAF2 and NCK interacting kinase umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 10318 TNIP1 TNFAIP3 interacting protein 1 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 10318 TNIP1 TNFAIP3 interacting protein 1 umls:C1527336 Sjogren's Syndrome 0.21 1 Biomarker CTD_human 10188 TNK2 tyrosine kinase, non-receptor, 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 10188 TNK2 tyrosine kinase, non-receptor, 2 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 7134 TNNC1 troponin C type 1 (slow) umls:C3495498 Cardiomyopathy, Familial Hypertrophic, 1 0.21 0 Biomarker CTD_human 7136 TNNI2 troponin I type 2 (skeletal, fast) umls:C0026848 Muscular Diseases 0.21 1 Biomarker CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C0007222 Cardiovascular Diseases 0.21 1 Biomarker CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C0018805 Heart Injuries 0.21 1 Biomarker CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C0027540 Necrosis 0.21 1 Biomarker CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C0035220 Respiratory Distress Syndrome, Newborn 0.21 1 Biomarker CTD_human 7139 TNNT2 troponin T type 2 (cardiac) umls:C0242698 Ventricular Dysfunction, Left 0.21 1 Biomarker CTD_human 30000 TNPO2 transportin 2 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7143 TNR tenascin R umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 7143 TNR tenascin R umls:C0017639 Gliosis 0.21 1 Biomarker CTD_human 23112 TNRC6B trinucleotide repeat containing 6B umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 10140 TOB1 transducer of ERBB2, 1 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 10140 TOB1 transducer of ERBB2, 1 umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 10140 TOB1 transducer of ERBB2, 1 umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 10766 TOB2 transducer of ERBB2, 2 umls:C0042900 Vitiligo 0.21 1 Biomarker CTD_human 10040 TOM1L1 target of myb1 (chicken)-like 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 4796 TONSL tonsoku-like, DNA repair protein umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7150 TOP1 topoisomerase (DNA) I umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 7150 TOP1 topoisomerase (DNA) I umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 7153 TOP2A topoisomerase (DNA) II alpha 170kDa umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 7153 TOP2A topoisomerase (DNA) II alpha 170kDa umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7153 TOP2A topoisomerase (DNA) II alpha 170kDa umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7153 TOP2A topoisomerase (DNA) II alpha 170kDa umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7153 TOP2A topoisomerase (DNA) II alpha 170kDa umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 7155 TOP2B topoisomerase (DNA) II beta 180kDa umls:C0023470 Leukemia, Myeloid 0.21 1 Therapeutic CTD_human 7155 TOP2B topoisomerase (DNA) II beta 180kDa umls:C0282612 Prostatic Intraepithelial Neoplasia 0.21 1 Biomarker CTD_human 27348 TOR1B torsin family 1, member B (torsin B) umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 27324 TOX3 TOX high mobility group box family member 3 umls:C0242788 Breast Neoplasms, Male 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C1859972 Adrenocortical Carcinoma, Hereditary 0.21 0 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C0007786 Brain Ischemia 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C0007194 Cardiomyopathy, Hypertrophic 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C2931713 Chromosome 17 deletion 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C0011303 Demyelinating Diseases 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C0013990 Emphysema 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C0023897 Liver Diseases, Parasitic 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C0023904 Liver Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7157 TP53 tumor protein p53 umls:C0042076 Urologic Neoplasms 0.21 1 Biomarker CTD_human 9540 TP53I3 tumor protein p53 inducible protein 3 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 11257 TP53TG1 TP53 target 1 (non-protein coding) umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 8626 TP63 tumor protein p63 umls:C0000772 Abnormalities, Multiple 0.21 1 Biomarker CTD_human 8626 TP63 tumor protein p63 umls:C0006145 Breast Diseases 0.21 1 Biomarker CTD_human 8626 TP63 tumor protein p63 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 8626 TP63 tumor protein p63 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 8626 TP63 tumor protein p63 umls:C0037268 Skin Abnormalities 0.21 1 Biomarker CTD_human 8626 TP63 tumor protein p63 umls:C0038987 Sweat Gland Neoplasms 0.21 1 Biomarker CTD_human 7161 TP73 tumor protein p73 umls:C0206655 Rhabdomyosarcoma, Alveolar 0.21 1 Biomarker CTD_human 57212 TP73-AS1 TP73 antisense RNA 1 umls:C0028945 Oligodendroglioma 0.21 1 Biomarker CTD_human 7162 TPBG trophoblast glycoprotein umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7164 TPD52L1 tumor protein D52-like 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 121278 TPH2 tryptophan hydroxylase 2 umls:C0015967 Fever 0.21 1 Biomarker CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0002395 Alzheimer Disease 0.21 1 Biomarker CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0002882 Anemia, Hemolytic, Congenital Nonspherocytic 0.21 1 Biomarker CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0025521 Metabolism, Inborn Errors 0.21 2 Biomarker CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0027868 Neuromuscular Diseases 0.21 1 Biomarker CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0752252 Neuromuscular Manifestations 0.21 2 Biomarker CTD_human 7167 TPI1 triosephosphate isomerase 1 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 7168 TPM1 tropomyosin 1 (alpha) umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 7168 TPM1 tropomyosin 1 (alpha) umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 7168 TPM1 tropomyosin 1 (alpha) umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 7169 TPM2 tropomyosin 2 (beta) umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 7170 TPM3 tropomyosin 3 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 7170 TPM3 tropomyosin 3 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 7170 TPM3 tropomyosin 3 umls:C0024667 Mammary Neoplasms, Animal 0.21 2 Biomarker CTD_human 7170 TPM3 tropomyosin 3 umls:C0024668 Mammary Neoplasms, Experimental 0.21 2 Biomarker CTD_human 7170 TPM3 tropomyosin 3 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7171 TPM4 tropomyosin 4 umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 7171 TPM4 tropomyosin 4 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 7171 TPM4 tropomyosin 4 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 7171 TPM4 tropomyosin 4 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 7171 TPM4 tropomyosin 4 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 7172 TPMT thiopurine S-methyltransferase umls:C2750088 HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO 0.21 1 Biomarker CTD_human 7173 TPO thyroid peroxidase umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1200 TPP1 tripeptidyl peptidase I umls:C0002395 Alzheimer Disease 0.21 1 Biomarker CTD_human 1200 TPP1 tripeptidyl peptidase I umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 1200 TPP1 tripeptidyl peptidase I umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7175 TPR translocated promoter region, nuclear basket protein umls:C0040136 Thyroid Neoplasms 0.21 1 Biomarker CTD_human 64499 TPSB2 tryptase beta 2 (gene/pseudogene) umls:C0022548 Keloid 0.21 1 Biomarker CTD_human 22974 TPX2 TPX2, microtubule-associated umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 29896 TRA2A transformer 2 alpha homolog (Drosophila) umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 29896 TRA2A transformer 2 alpha homolog (Drosophila) umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 7185 TRAF1 TNF receptor-associated factor 1 umls:C0000786 Abortion, Spontaneous 0.21 1 Biomarker CTD_human 7185 TRAF1 TNF receptor-associated factor 1 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 9618 TRAF4 TNF receptor-associated factor 4 umls:C0270611 Brain Injuries 0.21 1 Biomarker CTD_human 22906 TRAK1 trafficking protein, kinesin binding 1 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 23471 TRAM1 translocation associated membrane protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10131 TRAP1 TNF receptor-associated protein 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 10131 TRAP1 TNF receptor-associated protein 1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 10131 TRAP1 TNF receptor-associated protein 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7109 TRAPPC10 trafficking protein particle complex 10 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 7109 TRAPPC10 trafficking protein particle complex 10 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 11181 TREH trehalase (brush-border membrane glycoprotein) umls:C0268187 Trehalase Deficiency 0.21 0 Biomarker CTD_human 54210 TREM1 triggering receptor expressed on myeloid cells 1 umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 55809 TRERF1 transcriptional regulating factor 1 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 11277 TREX1 three prime repair exonuclease 1 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 11277 TREX1 three prime repair exonuclease 1 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0002622 Amnesia 0.21 3 Therapeutic CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0003811 Arrhythmias, Cardiac 0.21 1 Biomarker CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0428977 Bradycardia 0.21 2 Therapeutic CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0007370 Catalepsy 0.21 1 Therapeutic CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0394016 Coma, Post-Head Injury 0.21 1 Therapeutic CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0023186 Learning Disorders 0.21 1 Therapeutic CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0027404 Narcolepsy 0.21 1 Biomarker CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0035229 Respiratory Insufficiency 0.21 2 Therapeutic CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0038273 Stereotypic Movement Disorder 0.21 1 Biomarker CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0085628 Stupor 0.21 2 Therapeutic CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 7200 TRH thyrotropin-releasing hormone umls:C1421143 THYROTROPIN-RELEASING HORMONE 0.21 0 Biomarker CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0040822 Tremor 0.21 2 Biomarker, Therapeutic CTD_human 7200 TRH thyrotropin-releasing hormone umls:C0041657 Unconsciousness 0.21 1 Therapeutic CTD_human 7201 TRHR thyrotropin-releasing hormone receptor umls:C0020676 Hypothyroidism 0.21 1 Biomarker CTD_human 7201 TRHR thyrotropin-releasing hormone receptor umls:C2940786 Thyroid Hormone Resistance Syndrome 0.21 1 Biomarker CTD_human 94014 TRICY1 trichilemmal cyst 1 umls:C1864801 Trichilemmal Cyst 1 0.21 0 Biomarker CTD_human 10346 TRIM22 tripartite motif containing 22 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 8805 TRIM24 tripartite motif containing 24 umls:C0238463 Thyroid cancer, papillary 0.21 0 Biomarker CTD_human 51592 TRIM33 tripartite motif containing 33 umls:C0238463 Thyroid cancer, papillary 0.21 0 Biomarker CTD_human 4591 TRIM37 tripartite motif containing 37 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 4591 TRIM37 tripartite motif containing 37 umls:C0016063 Fibrous Dysplasia of Bone 0.21 1 Biomarker CTD_human 4591 TRIM37 tripartite motif containing 37 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 4591 TRIM37 tripartite motif containing 37 umls:C0019209 Hepatomegaly 0.21 1 Biomarker CTD_human 84676 TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase umls:C0333641 Atrophy 0.21 1 Biomarker CTD_human 84676 TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase umls:C0018800 Cardiomegaly 0.21 1 Therapeutic CTD_human 7204 TRIO trio Rho guanine nucleotide exchange factor umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 7204 TRIO trio Rho guanine nucleotide exchange factor umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 54802 TRIT1 tRNA isopentenyltransferase 1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 55621 TRMT1 tRNA methyltransferase 1 homolog (S. cerevisiae) umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 55687 TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase umls:C1838854 Deafness, Aminoglycoside-Induced 0.21 0 Biomarker CTD_human 4567 TRNL1 tRNA umls:C0342289 Noninsulin-dependent diabetes mellitus with deafness 0.21 1 Biomarker CTD_human 8989 TRPA1 transient receptor potential cation channel, subfamily A, member 1 umls:C0085129 Bronchial Hyperreactivity 0.21 1 Biomarker CTD_human 8989 TRPA1 transient receptor potential cation channel, subfamily A, member 1 umls:C0020429 Hyperalgesia 0.21 3 Biomarker CTD_human 8989 TRPA1 transient receptor potential cation channel, subfamily A, member 1 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 8989 TRPA1 transient receptor potential cation channel, subfamily A, member 1 umls:C0878773 Urinary Bladder, Overactive 0.21 2 Biomarker, Therapeutic CTD_human 7220 TRPC1 transient receptor potential cation channel, subfamily C, member 1 umls:C0018800 Cardiomegaly 0.21 1 Biomarker CTD_human 7223 TRPC4 transient receptor potential cation channel, subfamily C, member 4 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7225 TRPC6 transient receptor potential cation channel, subfamily C, member 6 umls:C0012655 Disease Susceptibility 0.21 1 Biomarker CTD_human 7225 TRPC6 transient receptor potential cation channel, subfamily C, member 6 umls:C0004936 Mental Disorders 0.21 1 Biomarker CTD_human 80036 TRPM3 transient receptor potential cation channel, subfamily M, member 3 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 54822 TRPM7 transient receptor potential cation channel, subfamily M, member 7 umls:C0543859 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 0.21 0 Biomarker CTD_human 54822 TRPM7 transient receptor potential cation channel, subfamily M, member 7 umls:C0022650 Kidney Calculi 0.21 1 Biomarker CTD_human 54822 TRPM7 transient receptor potential cation channel, subfamily M, member 7 umls:C0023890 Liver Cirrhosis 0.21 1 Biomarker CTD_human 54822 TRPM7 transient receptor potential cation channel, subfamily M, member 7 umls:C0522224 Paralysis 0.21 1 Biomarker CTD_human 79054 TRPM8 transient receptor potential cation channel, subfamily M, member 8 umls:C0338480 Migraine without Aura 0.21 1 Biomarker CTD_human 7227 TRPS1 trichorhinophalangeal syndrome I umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7227 TRPS1 trichorhinophalangeal syndrome I umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7227 TRPS1 trichorhinophalangeal syndrome I umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0004153 Atherosclerosis 0.21 1 Biomarker CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0014852 Esophageal Diseases 0.21 1 Biomarker CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0014868 Esophagitis 0.21 1 Biomarker CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Biomarker CTD_human 7442 TRPV1 transient receptor potential cation channel, subfamily V, member 1 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0005940 Bone Diseases 0.21 2 Biomarker CTD_human 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0029422 Osteochondrodysplasias 0.21 1 Biomarker CTD_human 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C3150755 SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 0.21 0 Biomarker CTD_human 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C0042035 Urination Disorders 0.21 1 Biomarker CTD_human 55503 TRPV6 transient receptor potential cation channel, subfamily V, member 6 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 8295 TRRAP transformation/transcription domain-associated protein umls:C0036341 Schizophrenia 0.21 2 Biomarker CTD_human 7248 TSC1 tuberous sclerosis 1 umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 7248 TSC1 tuberous sclerosis 1 umls:C1846385 Focal cortical dysplasia of Taylor 0.21 1 Biomarker CTD_human 7248 TSC1 tuberous sclerosis 1 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 7248 TSC1 tuberous sclerosis 1 umls:C0751778 Myoclonic Epilepsies, Progressive 0.21 1 Biomarker CTD_human 7249 TSC2 tuberous sclerosis 2 umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 7249 TSC2 tuberous sclerosis 2 umls:C0023267 Leiomyoma 0.21 1 Biomarker CTD_human 7249 TSC2 tuberous sclerosis 2 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 7249 TSC2 tuberous sclerosis 2 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 8848 TSC22D1 TSC22 domain family, member 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 8848 TSC22D1 TSC22 domain family, member 1 umls:C0023904 Liver Neoplasms, Experimental 0.21 2 Biomarker CTD_human 8848 TSC22D1 TSC22 domain family, member 1 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 8848 TSC22D1 TSC22 domain family, member 1 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 1831 TSC22D3 TSC22 domain family, member 3 umls:C0020459 Hyperinsulinism 0.21 1 Biomarker CTD_human 1831 TSC22D3 TSC22 domain family, member 3 umls:C0021364 Infertility, Male 0.21 1 Biomarker CTD_human 1831 TSC22D3 TSC22 domain family, member 3 umls:C0039584 Testicular Diseases 0.21 1 Biomarker CTD_human 1831 TSC22D3 TSC22 domain family, member 3 umls:C0043096 Weight Loss 0.21 1 Biomarker CTD_human 80746 TSEN2 TSEN2 tRNA splicing endonuclease subunit umls:C0011168 Deglutition Disorders 0.21 1 Biomarker CTD_human 80746 TSEN2 TSEN2 tRNA splicing endonuclease subunit umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 80746 TSEN2 TSEN2 tRNA splicing endonuclease subunit umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 80746 TSEN2 TSEN2 tRNA splicing endonuclease subunit umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 80746 TSEN2 TSEN2 tRNA splicing endonuclease subunit umls:C0042790 Vision Disorders 0.21 1 Biomarker CTD_human 80746 TSEN2 TSEN2 tRNA splicing endonuclease subunit umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 79042 TSEN34 TSEN34 tRNA splicing endonuclease subunit umls:C0011168 Deglutition Disorders 0.21 1 Biomarker CTD_human 79042 TSEN34 TSEN34 tRNA splicing endonuclease subunit umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 79042 TSEN34 TSEN34 tRNA splicing endonuclease subunit umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 79042 TSEN34 TSEN34 tRNA splicing endonuclease subunit umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 79042 TSEN34 TSEN34 tRNA splicing endonuclease subunit umls:C0042790 Vision Disorders 0.21 1 Biomarker CTD_human 283989 TSEN54 TSEN54 tRNA splicing endonuclease subunit umls:C0011168 Deglutition Disorders 0.21 1 Biomarker CTD_human 283989 TSEN54 TSEN54 tRNA splicing endonuclease subunit umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 283989 TSEN54 TSEN54 tRNA splicing endonuclease subunit umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 283989 TSEN54 TSEN54 tRNA splicing endonuclease subunit umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 283989 TSEN54 TSEN54 tRNA splicing endonuclease subunit umls:C0042790 Vision Disorders 0.21 1 Biomarker CTD_human 50970 TSG11 Tumor suppressor gene on chromosome 11 umls:C1864232 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 0.21 0 Biomarker CTD_human 7252 TSHB thyroid stimulating hormone, beta umls:C0005586 Bipolar Disorder 0.21 1 Biomarker CTD_human 7252 TSHB thyroid stimulating hormone, beta umls:C0020672 Hypothermia 0.21 1 Biomarker CTD_human 100190789 TSHQTL1 Thyroid-stimulating hormone level QTL 1 umls:C2676758 THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1 0.21 0 Biomarker CTD_human 7253 TSHR thyroid stimulating hormone receptor umls:C0001624 Adrenal Gland Neoplasms 0.21 1 Biomarker CTD_human 7253 TSHR thyroid stimulating hormone receptor umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 7253 TSHR thyroid stimulating hormone receptor umls:C0024232 Lymphatic Metastasis 0.21 1 Biomarker CTD_human 85480 TSLP thymic stromal lymphopoietin umls:C0001925 Albuminuria 0.21 1 Biomarker CTD_human 23554 TSPAN12 tetraspanin 12 umls:C0012655 Disease Susceptibility 0.21 1 Biomarker CTD_human 706 TSPO translocator protein (18kDa) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 64061 TSPYL2 TSPY-like 2 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 23270 TSPYL4 TSPY-like 4 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 7260 TSSC1 tumor suppressing subtransferable candidate 1 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 7263 TST thiosulfate sulfurtransferase (rhodanese) umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 7263 TST thiosulfate sulfurtransferase (rhodanese) umls:C0009319 Colitis 0.21 1 Biomarker CTD_human 7263 TST thiosulfate sulfurtransferase (rhodanese) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 54902 TTC19 tetratricopeptide repeat domain 19 umls:C0751830 Gait Disorders, Neurologic 0.21 1 Biomarker CTD_human 54902 TTC19 tetratricopeptide repeat domain 19 umls:C0021359 Infertility 0.21 1 Biomarker CTD_human 54902 TTC19 tetratricopeptide repeat domain 19 umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 79809 TTC21B tetratricopeptide repeat domain 21B umls:C0265275 Jeune syndrome 0.21 1 Biomarker CTD_human 79809 TTC21B tetratricopeptide repeat domain 21B umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 22996 TTC39A tetratricopeptide repeat domain 39A umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 23508 TTC9 tetratricopeptide repeat domain 9 umls:C0027412 Opioid-Related Disorders 0.21 1 Biomarker CTD_human 283237 TTC9C tetratricopeptide repeat domain 9C umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7272 TTK TTK protein kinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7272 TTK TTK protein kinase umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 23170 TTLL12 tubulin tyrosine ligase-like family member 12 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 164395 TTLL9 tubulin tyrosine ligase-like family member 9 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 164395 TTLL9 tubulin tyrosine ligase-like family member 9 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 164395 TTLL9 tubulin tyrosine ligase-like family member 9 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 7273 TTN titin umls:C0151786 Muscle Weakness 0.21 1 Biomarker CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0004153 Atherosclerosis 0.21 1 Biomarker CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0012644 Disease Models, Animal 0.21 2 Biomarker CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0260662 Hearing Disorders 0.21 1 Biomarker CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0026846 Muscular Atrophy 0.21 1 Biomarker CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0034933 Reflex, Abnormal 0.21 1 Biomarker CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0752262 Somatosensory Disorders 0.21 1 Biomarker CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0037822 Speech Disorders 0.21 1 Biomarker CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0042035 Urination Disorders 0.21 1 Biomarker CTD_human 7274 TTPA tocopherol (alpha) transfer protein umls:C0042790 Vision Disorders 0.21 1 Biomarker CTD_human 7276 TTR transthyretin umls:C0011609 Drug Eruptions 0.21 1 Biomarker CTD_human 7276 TTR transthyretin umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 7846 TUBA1A tubulin, alpha 1a umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 10376 TUBA1B tubulin, alpha 1b umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 84790 TUBA1C tubulin, alpha 1c umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 84790 TUBA1C tubulin, alpha 1c umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7280 TUBB2A tubulin, beta 2A class IIa umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 347733 TUBB2B tubulin, beta 2B class IIb umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 347733 TUBB2B tubulin, beta 2B class IIb umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 347733 TUBB2B tubulin, beta 2B class IIb umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7283 TUBG1 tubulin, gamma 1 umls:C0025958 Microcephaly 0.21 1 Biomarker CTD_human 7284 TUFM Tu translation elongation factor, mitochondrial umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 574049 TUKLS Tukel syndrome umls:C1836217 Tukel syndrome 0.21 0 Biomarker CTD_human 7991 TUSC3 tumor suppressor candidate 3 umls:C0033578 Prostatic Neoplasms 0.21 0 Biomarker CTD_human 5756 TWF1 twinfilin actin-binding protein 1 umls:C0024299 Lymphoma 0.21 1 Biomarker CTD_human 7291 TWIST1 twist family bHLH transcription factor 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 57045 TWSG1 twisted gastrulation BMP signaling modulator 1 umls:C0022360 Jaw Abnormalities 0.21 1 Biomarker CTD_human 7295 TXN thioredoxin umls:C0242488 Acute Lung Injury 0.21 1 Therapeutic CTD_human 7295 TXN thioredoxin umls:C0006287 Bronchopulmonary Dysplasia 0.21 1 Therapeutic CTD_human 7295 TXN thioredoxin umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 84817 TXNDC17 thioredoxin domain containing 17 umls:C0279626 Esophageal Squamous Cell Carcinoma 0.21 1 Biomarker CTD_human 81567 TXNDC5 thioredoxin domain containing 5 (endoplasmic reticulum) umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 81567 TXNDC5 thioredoxin domain containing 5 (endoplasmic reticulum) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 10628 TXNIP thioredoxin interacting protein umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 10628 TXNIP thioredoxin interacting protein umls:C0079744 Lymphoma, Large B-Cell, Diffuse 0.21 1 Biomarker CTD_human 7296 TXNRD1 thioredoxin reductase 1 umls:C0243038 Carcinoma, Lewis Lung 0.21 1 Biomarker CTD_human 7296 TXNRD1 thioredoxin reductase 1 umls:C0025500 Mesothelioma 0.21 1 Biomarker CTD_human 7296 TXNRD1 thioredoxin reductase 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 7296 TXNRD1 thioredoxin reductase 1 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 10587 TXNRD2 thioredoxin reductase 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7297 TYK2 tyrosine kinase 2 umls:C0236736 Cocaine-Related Disorders 0.21 1 Biomarker CTD_human 7297 TYK2 tyrosine kinase 2 umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 7297 TYK2 tyrosine kinase 2 umls:C1456784 Paranoid Disorders 0.21 1 Biomarker CTD_human 1890 TYMP thymidine phosphorylase umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 1890 TYMP thymidine phosphorylase umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 7298 TYMS thymidylate synthetase umls:C0006111 Brain Diseases 0.21 1 Biomarker CTD_human 7298 TYMS thymidylate synthetase umls:C0012243 Digestive System Neoplasms 0.21 1 Biomarker CTD_human 7298 TYMS thymidylate synthetase umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Biomarker CTD_human 7298 TYMS thymidylate synthetase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7298 TYMS thymidylate synthetase umls:C0220994 Hyperammonemia 0.21 1 Biomarker CTD_human 7298 TYMS thymidylate synthetase umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 7298 TYMS thymidylate synthetase umls:C0027765 Nervous System Diseases 0.21 1 Biomarker CTD_human 7298 TYMS thymidylate synthetase umls:C0040411 Tongue Neoplasms 0.21 1 Biomarker CTD_human 7299 TYR tyrosinase umls:C1845069 Albinism ocular late onset sensorineural deafness 0.21 0 Biomarker CTD_human 7301 TYRO3 TYRO3 protein tyrosine kinase umls:C0040053 Thrombosis 0.21 1 Biomarker CTD_human 7305 TYROBP TYRO protein tyrosine kinase binding protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7305 TYROBP TYRO protein tyrosine kinase binding protein umls:C0023895 Liver Diseases 0.21 1 Biomarker CTD_human 7306 TYRP1 tyrosinase-related protein 1 umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 7306 TYRP1 tyrosinase-related protein 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 7307 U2AF1 U2 small nuclear RNA auxiliary factor 1 umls:C0019693 HIV Infections 0.21 1 Biomarker CTD_human 7307 U2AF1 U2 small nuclear RNA auxiliary factor 1 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 55075 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 100272225 UAQTL4 Uric acid concentration, serum, QTL4 umls:C2675207 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4 0.21 0 Biomarker CTD_human 7314 UBB ubiquitin B umls:C1970095 Cleft Palate, Isolated, And Mental Retardation 0.21 0 Biomarker CTD_human 10537 UBD ubiquitin D umls:C0019188 Hepatitis, Animal 0.21 1 Biomarker CTD_human 10537 UBD ubiquitin D umls:C0023892 Liver Cirrhosis, Biliary 0.21 1 Biomarker CTD_human 11065 UBE2C ubiquitin-conjugating enzyme E2C umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 7323 UBE2D3 ubiquitin-conjugating enzyme E2D 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7324 UBE2E1 ubiquitin-conjugating enzyme E2E 1 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 7324 UBE2E1 ubiquitin-conjugating enzyme E2E 1 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 7326 UBE2G1 ubiquitin-conjugating enzyme E2G 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7328 UBE2H ubiquitin-conjugating enzyme E2H umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7329 UBE2I ubiquitin-conjugating enzyme E2I umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 7329 UBE2I ubiquitin-conjugating enzyme E2I umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7329 UBE2I ubiquitin-conjugating enzyme E2I umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7332 UBE2L3 ubiquitin-conjugating enzyme E2L 3 umls:C0524909 Hepatitis B, Chronic 0.21 1 Biomarker CTD_human 9246 UBE2L6 ubiquitin-conjugating enzyme E2L 6 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 7334 UBE2N ubiquitin-conjugating enzyme E2N umls:C0752351 Embryo Loss 0.21 1 Biomarker CTD_human 7337 UBE3A ubiquitin protein ligase E3A umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 55148 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 51035 UBXN1 UBX domain protein 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 51035 UBXN1 UBX domain protein 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7345 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) umls:C0016978 Gallbladder Neoplasms 0.21 1 Biomarker CTD_human 7345 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 7345 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) umls:C3160718 PARKINSON DISEASE, LATE-ONSET 0.21 0 Biomarker CTD_human 7345 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7349 UCN urocortin umls:C0003469 Anxiety Disorders 0.21 1 Biomarker CTD_human 7349 UCN urocortin umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 90226 UCN2 urocortin 2 umls:C0003123 Anorexia 0.21 1 Biomarker CTD_human 90226 UCN2 urocortin 2 umls:C0018801 Heart Failure 0.21 1 Therapeutic CTD_human 114131 UCN3 urocortin 3 umls:C0021368 Inflammation 0.21 1 Therapeutic CTD_human 114131 UCN3 urocortin 3 umls:C0024115 Lung Diseases 0.21 1 Therapeutic CTD_human 7350 UCP1 uncoupling protein 1 (mitochondrial, proton carrier) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7351 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7352 UCP3 uncoupling protein 3 (mitochondrial, proton carrier) umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7353 UFD1L ubiquitin fusion degradation 1 like (yeast) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 7353 UFD1L ubiquitin fusion degradation 1 like (yeast) umls:C0018798 Heart Defects, Congenital 0.21 1 Biomarker CTD_human 7357 UGCG UDP-glucose ceramide glucosyltransferase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7357 UGCG UDP-glucose ceramide glucosyltransferase umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 7358 UGDH UDP-glucose 6-dehydrogenase umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C0262584 Carcinoma, Small Cell 0.21 1 Biomarker CTD_human 54658 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 umls:C3658338 Drug-Related Side Effects and Adverse Reactions 0.21 1 Therapeutic CTD_human 54659 UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 54600 UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 umls:C2609414 Acute Kidney Injury 0.21 1 Biomarker CTD_human 54600 UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 umls:C0860207 Drug-Induced Liver Injury 0.21 1 Biomarker CTD_human 7365 UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 7367 UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 7364 UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7364 UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 umls:C0005695 Urinary Bladder Neoplasms 0.21 1 Biomarker CTD_human 29128 UHRF1 ubiquitin-like with PHD and ring finger domains 1 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 80328 ULBP2 UL16 binding protein 2 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7372 UMPS uridine monophosphate synthetase umls:C0949116 Anemia, Hypoplastic, Congenital 0.21 1 Biomarker CTD_human 7372 UMPS uridine monophosphate synthetase umls:C0002895 Anemia, Sickle Cell 0.21 1 Biomarker CTD_human 7372 UMPS uridine monophosphate synthetase umls:C0005283 beta-Thalassemia 0.21 1 Biomarker CTD_human 7372 UMPS uridine monophosphate synthetase umls:C1458155 Breast Neoplasms 0.21 2 Biomarker CTD_human 7372 UMPS uridine monophosphate synthetase umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 7372 UMPS uridine monophosphate synthetase umls:C0023440 Leukemia, Erythroblastic, Acute 0.21 1 Biomarker CTD_human 7372 UMPS uridine monophosphate synthetase umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 7372 UMPS uridine monophosphate synthetase umls:C0037889 Spherocytosis, Hereditary 0.21 1 Biomarker CTD_human 440279 UNC13C unc-13 homolog C (C. elegans) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 146862 UNC45B unc-45 homolog B (C. elegans) umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 146862 UNC45B unc-45 homolog B (C. elegans) umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 146862 UNC45B unc-45 homolog B (C. elegans) umls:C0522224 Paralysis 0.21 1 Biomarker CTD_human 391051 UOX urate oxidase, pseudogene umls:C2609414 Acute Kidney Injury 0.21 1 Therapeutic CTD_human 391051 UOX urate oxidase, pseudogene umls:C0028961 Oliguria 0.21 1 Therapeutic CTD_human 391051 UOX urate oxidase, pseudogene umls:C0029927 Ovarian Cysts 0.21 1 Biomarker CTD_human 51733 UPB1 ureidopropionase, beta umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 51733 UPB1 ureidopropionase, beta umls:C0025517 Metabolic Diseases 0.21 1 Biomarker CTD_human 51733 UPB1 ureidopropionase, beta umls:C0037769 Spasms, Infantile 0.21 1 Biomarker CTD_human 7380 UPK3A uroplakin 3A umls:C1609433 Hereditary renal agenesis 0.21 0 Biomarker CTD_human 7380 UPK3A uroplakin 3A umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7378 UPP1 uridine phosphorylase 1 umls:C0162820 Dermatitis, Allergic Contact 0.21 1 Biomarker CTD_human 7378 UPP1 uridine phosphorylase 1 umls:C0035228 Respiratory Hypersensitivity 0.21 1 Biomarker CTD_human 151531 UPP2 uridine phosphorylase 2 umls:C0008074 Child Development Disorders, Pervasive 0.21 1 Biomarker CTD_human 10975 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 7385 UQCRC2 ubiquinol-cytochrome c reductase core protein II umls:C0028754 Obesity 0.21 1 Biomarker CTD_human 7386 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 8725 URI1 URI1, prefoldin-like chaperone umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 8725 URI1 URI1, prefoldin-like chaperone umls:C0027659 Neoplasms, Experimental 0.21 1 Biomarker CTD_human 8725 URI1 URI1, prefoldin-like chaperone umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 81605 URM1 ubiquitin related modifier 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 81605 URM1 ubiquitin related modifier 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 131669 UROC1 urocanate hydratase 1 umls:C0004134 Ataxia 0.21 1 Biomarker CTD_human 131669 UROC1 urocanate hydratase 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 7389 UROD uroporphyrinogen decarboxylase umls:C0018671 Head and Neck Neoplasms 0.21 1 Biomarker CTD_human 7396 USH1E Usher syndrome 1E (autosomal recessive, severe) umls:C2931209 Usher syndrome, type 1E 0.21 0 Biomarker CTD_human 100271837 USH1H Usher syndrome 1H (autosomal recessive) umls:C2675458 Usher Syndrome, Type IH 0.21 0 Biomarker CTD_human 8615 USO1 USO1 vesicle transport factor umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 8615 USO1 USO1 vesicle transport factor umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 8615 USO1 USO1 vesicle transport factor umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 8975 USP13 ubiquitin specific peptidase 13 (isopeptidase T-3) umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 8975 USP13 ubiquitin specific peptidase 13 (isopeptidase T-3) umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 9099 USP2 ubiquitin specific peptidase 2 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 84196 USP48 ubiquitin specific peptidase 48 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 9712 USP6NL USP6 N-terminal like umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 9101 USP8 ubiquitin specific peptidase 8 umls:C1306214 ACTH-Secreting Pituitary Adenoma 0.21 1 Biomarker CTD_human 10090 UST uronyl-2-sulfotransferase umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 27340 UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 10911 UTS2 urotensin 2 umls:C0428977 Bradycardia 0.21 1 Biomarker CTD_human 10911 UTS2 urotensin 2 umls:C0013473 Eating Disorders 0.21 1 Biomarker CTD_human 10911 UTS2 urotensin 2 umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 10911 UTS2 urotensin 2 umls:C0043049 Water Intoxication 0.21 1 Biomarker CTD_human 170592 UVM1 Melanoma, uveal, susceptibility to, 1 umls:C0220633 Uveal melanoma 0.21 0 Biomarker CTD_human 57654 UVSSA UV-stimulated scaffold protein A umls:C3551173 UV-SENSITIVE SYNDROME 1 0.21 2 Biomarker CTD_human 80146 UXS1 UDP-glucuronate decarboxylase 1 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 246319 VAMAS6 Vitiligo umls:C3277701 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 0.21 0 Biomarker CTD_human 6845 VAMP7 vesicle-associated membrane protein 7 umls:C1168401 Carcinoma, squamous cell of head and neck 0.21 1 Biomarker CTD_human 6845 VAMP7 vesicle-associated membrane protein 7 umls:C0950124 Papillomavirus Infections 0.21 1 Biomarker CTD_human 8673 VAMP8 vesicle-associated membrane protein 8 umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 8673 VAMP8 vesicle-associated membrane protein 8 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8673 VAMP8 vesicle-associated membrane protein 8 umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 8673 VAMP8 vesicle-associated membrane protein 8 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 57216 VANGL2 VANGL planar cell polarity protein 2 umls:C0080178 Spinal Dysraphism 0.21 1 Biomarker CTD_human 9217 VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C umls:C1866777 Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 0.21 0 Biomarker CTD_human 7409 VAV1 vav 1 guanine nucleotide exchange factor umls:C0025149 Medulloblastoma 0.21 1 Biomarker CTD_human 10451 VAV3 vav 3 guanine nucleotide exchange factor umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10451 VAV3 vav 3 guanine nucleotide exchange factor umls:C0020538 Hypertension 0.21 1 Biomarker CTD_human 10451 VAV3 vav 3 guanine nucleotide exchange factor umls:C0020578 Hyperventilation 0.21 1 Biomarker CTD_human 10451 VAV3 vav 3 guanine nucleotide exchange factor umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 7412 VCAM1 vascular cell adhesion molecule 1 umls:C2239176 Carcinoma, Hepatocellular 0.21 1 Biomarker CTD_human 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0008370 Cholestasis 0.21 1 Biomarker CTD_human 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0009324 Colitis, Ulcerative 0.21 1 Biomarker CTD_human 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0019284 Hernia, Diaphragmatic 0.21 1 Biomarker CTD_human 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0041948 Uremia 0.21 1 Biomarker CTD_human 7412 VCAM1 vascular cell adhesion molecule 1 umls:C0042109 Urticaria 0.21 1 Biomarker CTD_human 1462 VCAN versican umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 1462 VCAN versican umls:C0014175 Endometriosis 0.21 1 Biomarker CTD_human 1462 VCAN versican umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 7414 VCL vinculin umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 7414 VCL vinculin umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 7416 VDAC1 voltage-dependent anion channel 1 umls:C0011881 Diabetic Nephropathies 0.21 1 Biomarker CTD_human 7416 VDAC1 voltage-dependent anion channel 1 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 7416 VDAC1 voltage-dependent anion channel 1 umls:C0162670 Mitochondrial Myopathies 0.21 1 Biomarker CTD_human 7416 VDAC1 voltage-dependent anion channel 1 umls:C0033922 Psychomotor Disorders 0.21 1 Biomarker CTD_human 7417 VDAC2 voltage-dependent anion channel 2 umls:C0007137 Carcinoma, Squamous Cell 0.21 1 Biomarker CTD_human 7417 VDAC2 voltage-dependent anion channel 2 umls:C0011881 Diabetic Nephropathies 0.21 1 Biomarker CTD_human 7417 VDAC2 voltage-dependent anion channel 2 umls:C0014544 Epilepsy 0.21 1 Biomarker CTD_human 7417 VDAC2 voltage-dependent anion channel 2 umls:C0026640 Mouth Neoplasms 0.21 1 Biomarker CTD_human 7417 VDAC2 voltage-dependent anion channel 2 umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0007138 Carcinoma, Transitional Cell 0.21 1 Biomarker CTD_human 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0950123 Genetic Diseases, Inborn 0.21 1 Biomarker CTD_human 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0023434 Leukemia, Lymphocytic, Chronic, B-Cell 0.21 1 Biomarker CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C2609414 Acute Kidney Injury 0.21 2 Biomarker, Therapeutic CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0993582 Arthritis, Experimental 0.21 1 Biomarker CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C2937358 Cerebral Hemorrhage 0.21 1 Biomarker CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0014556 Epilepsy, Temporal Lobe 0.21 1 Biomarker CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0206726 Gliosarcoma 0.21 1 Biomarker CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0023186 Learning Disorders 0.21 1 Therapeutic CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0023893 Liver Cirrhosis, Experimental 0.21 2 Biomarker, Therapeutic CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0085605 Liver Failure 0.21 1 Therapeutic CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0025261 Memory Disorders 0.21 1 Therapeutic CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0029422 Osteochondrodysplasias 0.21 1 Therapeutic CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0033687 Proteinuria 0.21 1 Biomarker CTD_human 7422 VEGFA vascular endothelial growth factor A umls:C0038220 Status Epilepticus 0.21 1 Biomarker CTD_human 7424 VEGFC vascular endothelial growth factor C umls:C0018923 Hemangiosarcoma 0.21 1 Biomarker CTD_human 7425 VGF VGF nerve growth factor inducible umls:C0038358 Stomach Ulcer 0.21 1 Therapeutic CTD_human 245806 VGLL2 vestigial-like family member 2 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 7431 VIM vimentin umls:C0948089 Acute Coronary Syndrome 0.21 1 Biomarker CTD_human 7431 VIM vimentin umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 7431 VIM vimentin umls:C0007140 Carcinosarcoma 0.21 1 Biomarker CTD_human 7431 VIM vimentin umls:C0012644 Disease Models, Animal 0.21 1 Biomarker CTD_human 7431 VIM vimentin umls:C0085084 Motor Neuron Disease 0.21 1 Biomarker CTD_human 7431 VIM vimentin umls:C0524851 Neurodegenerative Diseases 0.21 1 Biomarker CTD_human 7431 VIM vimentin umls:C0029408 Osteoarthritis 0.21 2 Biomarker CTD_human 7431 VIM vimentin umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 55829 VIMP VCP-interacting membrane protein umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7432 VIP vasoactive intestinal peptide umls:C0085129 Bronchial Hyperreactivity 0.21 2 Biomarker CTD_human 7432 VIP vasoactive intestinal peptide umls:C0009241 Cognition Disorders 0.21 1 Therapeutic CTD_human 7432 VIP vasoactive intestinal peptide umls:C0013604 Edema 0.21 1 Biomarker CTD_human 7432 VIP vasoactive intestinal peptide umls:C0242350 Erectile Dysfunction 0.21 1 Therapeutic CTD_human 7432 VIP vasoactive intestinal peptide umls:C0016382 Flushing 0.21 1 Biomarker CTD_human 7432 VIP vasoactive intestinal peptide umls:C0020429 Hyperalgesia 0.21 1 Biomarker CTD_human 7432 VIP vasoactive intestinal peptide umls:C0020649 Hypotension 0.21 1 Biomarker CTD_human 7432 VIP vasoactive intestinal peptide umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 7432 VIP vasoactive intestinal peptide umls:C0030193 Pain 0.21 1 Therapeutic CTD_human 7432 VIP vasoactive intestinal peptide umls:C0035455 Rhinitis 0.21 2 Biomarker CTD_human 7432 VIP vasoactive intestinal peptide umls:C0039231 Tachycardia 0.21 1 Biomarker CTD_human 7432 VIP vasoactive intestinal peptide umls:C0005686 Urinary Bladder Diseases 0.21 1 Biomarker CTD_human 79001 VKORC1 vitamin K epoxide reductase complex, subunit 1 umls:C0003496 Aortic Rupture 0.21 1 Biomarker CTD_human 203547 VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) umls:C1839615 Myopathy, X-Linked, with Excessive Autophagy 0.21 0 Biomarker CTD_human 7438 VMD1 vitelliform macular dystrophy, atypical umls:C1835178 Macular dystrophy, atypical vitelliform 0.21 0 Biomarker CTD_human 284013 VMO1 vitelline membrane outer layer 1 homolog (chicken) umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 81671 VMP1 vacuole membrane protein 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 8876 VNN1 vanin 1 umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 8876 VNN1 vanin 1 umls:C0242339 Dyslipidemias 0.21 1 Biomarker CTD_human 8875 VNN2 vanin 2 umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 81552 VOPP1 vesicular, overexpressed in cancer, prosurvival protein 1 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 55187 VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 55737 VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 23339 VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae) umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 23339 VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae) umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 11311 VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) umls:C2931351 Familial myelofibrosis 0.21 1 Biomarker CTD_human 51542 VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae) umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 7443 VRK1 vaccinia related kinase 1 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 11326 VSIG4 V-set and immunoglobulin domain containing 4 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 11326 VSIG4 V-set and immunoglobulin domain containing 4 umls:C0023467 Leukemia, Myeloid, Acute 0.21 1 Biomarker CTD_human 59332 VSPA Visuospatial/perceptual abilities umls:C1839262 SPATIAL VISUALIZATION, APTITUDE FOR 0.21 0 Biomarker CTD_human 30813 VSX1 visual system homeobox 1 umls:C0004310 Auditory Perceptual Disorders 0.21 1 Biomarker CTD_human 30813 VSX1 visual system homeobox 1 umls:C0010035 Corneal Dystrophies, Hereditary 0.21 1 Biomarker CTD_human 30813 VSX1 visual system homeobox 1 umls:C0014008 Empty Sella Syndrome 0.21 1 Biomarker CTD_human 30813 VSX1 visual system homeobox 1 umls:C0015393 Eye Abnormalities 0.21 1 Biomarker CTD_human 30813 VSX1 visual system homeobox 1 umls:C0035309 Retinal Diseases 0.21 1 Biomarker CTD_human 143187 VTI1A vesicle transport through interaction with t-SNAREs 1A umls:C0001418 Adenocarcinoma 0.21 1 Biomarker CTD_human 143187 VTI1A vesicle transport through interaction with t-SNAREs 1A umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 7448 VTN vitronectin umls:C0010346 Crohn Disease 0.21 1 Biomarker CTD_human 619537 VV varicose veins umls:C0042345 Varicose Veins 0.21 0 Biomarker CTD_human 7450 VWF von Willebrand factor umls:C0018801 Heart Failure 0.21 1 Biomarker CTD_human 7450 VWF von Willebrand factor umls:C0752143 Intracranial Thrombosis 0.21 1 Biomarker CTD_human 7450 VWF von Willebrand factor umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 100917 VWSM Van der Woude syndrome modifier umls:C1858298 VAN DER WOUDE SYNDROME 1, MODIFIER OF 0.21 0 Biomarker CTD_human 100233159 WAGRO WAGRO syndrome umls:C2675904 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 0.21 0 Biomarker CTD_human 50988 WDM Welander distal myopathy umls:C2931290 Welander distal myopathy, Swedish type 0.21 0 Biomarker CTD_human 9948 WDR1 WD repeat domain 1 umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 9948 WDR1 WD repeat domain 1 umls:C0029456 Osteoporosis 0.21 1 Biomarker CTD_human 9948 WDR1 WD repeat domain 1 umls:C0040034 Thrombocytopenia 0.21 1 Biomarker CTD_human 55717 WDR11 WD repeat domain 11 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 55717 WDR11 WD repeat domain 11 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 116966 WDR17 WD repeat domain 17 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 56270 WDR45B WD repeat domain 45B umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 9277 WDR46 WD repeat domain 46 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 9277 WDR46 WD repeat domain 46 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 284403 WDR62 WD repeat domain 62 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 284403 WDR62 WD repeat domain 62 umls:C1838491 Kuzniecky syndrome 0.21 0 Biomarker CTD_human 54663 WDR74 WD repeat domain 74 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 54663 WDR74 WD repeat domain 74 umls:C0027651 Neoplasms 0.21 1 Biomarker CTD_human 79084 WDR77 WD repeat domain 77 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 474168 WG Wegener granulomatosis umls:C3495801 Granulomatosis with Polyangiitis 0.21 0 Biomarker CTD_human 7467 WHCR Wolf-Hirschhorn syndrome chromosome region umls:C1956097 Wolf-Hirschhorn Syndrome 0.21 0 Biomarker CTD_human 7468 WHSC1 Wolf-Hirschhorn syndrome candidate 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 11197 WIF1 WNT inhibitory factor 1 umls:C0014859 Esophageal Neoplasms 0.21 1 Biomarker CTD_human 11197 WIF1 WNT inhibitory factor 1 umls:C0027439 Nasopharyngeal Neoplasms 0.21 1 Biomarker CTD_human 11197 WIF1 WNT inhibitory factor 1 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7456 WIPF1 WAS/WASL interacting protein family, member 1 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 55062 WIPI1 WD repeat domain, phosphoinositide interacting 1 umls:C0023794 Lipidoses 0.21 3 Biomarker CTD_human 100188787 WM1 Macroglobulinemia, Waldenstrom, susceptibility to, 1 umls:C0024419 Waldenstrom Macroglobulinemia 0.21 0 Biomarker CTD_human 100188811 WM2 Macroglobulinemia, Waldenstrom, susceptibility to, 2 umls:C0024419 Waldenstrom Macroglobulinemia 0.21 0 Biomarker CTD_human 7481 WNT11 wingless-type MMTV integration site family, member 11 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 54361 WNT4 wingless-type MMTV integration site family, member 4 umls:C0013336 Dwarfism 0.21 1 Biomarker CTD_human 54361 WNT4 wingless-type MMTV integration site family, member 4 umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 54361 WNT4 wingless-type MMTV integration site family, member 4 umls:C0022658 Kidney Diseases 0.21 1 Biomarker CTD_human 54361 WNT4 wingless-type MMTV integration site family, member 4 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7474 WNT5A wingless-type MMTV integration site family, member 5A umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 7474 WNT5A wingless-type MMTV integration site family, member 5A umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 7474 WNT5A wingless-type MMTV integration site family, member 5A umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 7474 WNT5A wingless-type MMTV integration site family, member 5A umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 81029 WNT5B wingless-type MMTV integration site family, member 5B umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 81029 WNT5B wingless-type MMTV integration site family, member 5B umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 7476 WNT7A wingless-type MMTV integration site family, member 7A umls:C1862939 Amyotrophic lateral sclerosis 1 0.21 1 Biomarker CTD_human 7476 WNT7A wingless-type MMTV integration site family, member 7A umls:C1720887 Female Urogenital Diseases 0.21 1 Biomarker CTD_human 7476 WNT7A wingless-type MMTV integration site family, member 7A umls:C0042065 Urogenital Neoplasms 0.21 1 Biomarker CTD_human 7478 WNT8A wingless-type MMTV integration site family, member 8A umls:C0004238 Atrial Fibrillation 0.21 1 Biomarker CTD_human 7486 WRN Werner syndrome, RecQ helicase-like umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 7488 WS2B Waardenburg syndrome, type 2B umls:C1838447 Waardenburg syndrome type 2B 0.21 0 Biomarker CTD_human 170594 WS2C Waardenburg syndrome, type IIC umls:C1847722 Waardenburg Syndrome, Type 2C 0.21 0 Biomarker CTD_human 23302 WSCD1 WSC domain containing 1 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 23302 WSCD1 WSC domain containing 1 umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 7489 WSN Waisman syndrome umls:C0796195 Parkinsonism, early onset with mental retardation 0.21 0 Biomarker CTD_human 7490 WT1 Wilms tumor 1 umls:C0009375 Colonic Neoplasms 0.21 1 Biomarker CTD_human 7490 WT1 Wilms tumor 1 umls:C0024121 Lung Neoplasms 0.21 1 Biomarker CTD_human 7490 WT1 Wilms tumor 1 umls:C2931752 Meacham Winn Culler syndrome 0.21 0 Biomarker CTD_human 7491 WT2 Wilms tumor 2 umls:C1859972 Adrenocortical Carcinoma, Hereditary 0.21 0 Biomarker CTD_human 7491 WT2 Wilms tumor 2 umls:C1853800 Familial Wilms tumor 2 0.21 0 Biomarker CTD_human 8136 WT3 Wilms tumor-3 umls:C1860265 Wilms Tumor 3 0.21 0 Biomarker CTD_human 8151 WT4 Wilms tumor-4 umls:C1832426 Wilms Tumor 4 0.21 0 Biomarker CTD_human 619509 WTRS Wittwer syndrome umls:C0796202 Wittwer syndrome 0.21 0 Biomarker CTD_human 51741 WWOX WW domain containing oxidoreductase umls:C0014859 Esophageal Neoplasms 0.21 0 Biomarker CTD_human 51741 WWOX WW domain containing oxidoreductase umls:C0042076 Urologic Neoplasms 0.21 1 Biomarker CTD_human 25937 WWTR1 WW domain containing transcription regulator 1 umls:C0026846 Muscular Atrophy 0.21 1 Therapeutic CTD_human 54739 XAF1 XIAP associated factor 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 54739 XAF1 XIAP associated factor 1 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 653220 XAGE1B X antigen family, member 1B umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 7494 XBP1 X-box binding protein 1 umls:C1852197 Major Affective Disorder 1 0.21 0 Biomarker CTD_human 7494 XBP1 X-box binding protein 1 umls:C2700438 Major Affective Disorder 7 0.21 0 Biomarker CTD_human 7498 XDH xanthine dehydrogenase umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 7498 XDH xanthine dehydrogenase umls:C0007097 Carcinoma 0.21 1 Biomarker CTD_human 7498 XDH xanthine dehydrogenase umls:C0018799 Heart Diseases 0.21 1 Biomarker CTD_human 7498 XDH xanthine dehydrogenase umls:C0740392 Infarction, Middle Cerebral Artery 0.21 1 Biomarker CTD_human 7498 XDH xanthine dehydrogenase umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7498 XDH xanthine dehydrogenase umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7498 XDH xanthine dehydrogenase umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 7498 XDH xanthine dehydrogenase umls:C0034065 Pulmonary Embolism 0.21 1 Biomarker CTD_human 7498 XDH xanthine dehydrogenase umls:C0040034 Thrombocytopenia 0.21 1 Biomarker CTD_human 100302510 XECD Corneal dystrophy, endothelial, X-linked umls:C2749049 Corneal Dystrophy, Endothelial, X-Linked 0.21 0 Biomarker CTD_human 331 XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Therapeutic CTD_human 331 XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase umls:C0027055 Myocardial Reperfusion Injury 0.21 1 Biomarker CTD_human 165904 XIRP1 xin actin-binding repeat containing 1 umls:C0032343 Poisoning 0.21 1 Biomarker CTD_human 7503 XIST X inactive specific transcript (non-protein coding) umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 7504 XK X-linked Kx blood group umls:C0018939 Hematologic Diseases 0.21 2 Biomarker CTD_human 7504 XK X-linked Kx blood group umls:C0004936 Mental Disorders 0.21 1 Biomarker CTD_human 7504 XK X-linked Kx blood group umls:C0026650 Movement Disorders 0.21 1 Biomarker CTD_human 7504 XK X-linked Kx blood group umls:C0027868 Neuromuscular Diseases 0.21 2 Biomarker CTD_human 7504 XK X-linked Kx blood group umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 114786 XKR4 XK, Kell blood group complex subunit-related family, member 4 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 7507 XPA xeroderma pigmentosum, complementation group A umls:C0021841 Intestinal Neoplasms 0.21 1 Biomarker CTD_human 7507 XPA xeroderma pigmentosum, complementation group A umls:C1449861 Micronuclei, Chromosome-Defective 0.21 1 Biomarker CTD_human 7508 XPC xeroderma pigmentosum, complementation group C umls:C0002514 Amino Acid Metabolism, Inborn Errors 0.21 1 Biomarker CTD_human 7508 XPC xeroderma pigmentosum, complementation group C umls:C0004352 Autistic Disorder 0.21 1 Biomarker CTD_human 7508 XPC xeroderma pigmentosum, complementation group C umls:C0008625 Chromosome Aberrations 0.21 1 Biomarker CTD_human 7508 XPC xeroderma pigmentosum, complementation group C umls:C1449861 Micronuclei, Chromosome-Defective 0.21 1 Biomarker CTD_human 23214 XPO6 exportin 6 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 7515 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 umls:C1449861 Micronuclei, Chromosome-Defective 0.21 2 Biomarker CTD_human 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0314657 Genetic Predisposition to Disease 0.21 1 Biomarker CTD_human 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7517 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 7518 XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 umls:C0008625 Chromosome Aberrations 0.21 1 Biomarker CTD_human 64131 XYLT1 xylosyltransferase I umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 10413 YAP1 Yes-associated protein 1 umls:C1168401 Carcinoma, squamous cell of head and neck 0.21 1 Biomarker CTD_human 10413 YAP1 Yes-associated protein 1 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 4904 YBX1 Y box binding protein 1 umls:C0023893 Liver Cirrhosis, Experimental 0.21 1 Therapeutic CTD_human 4904 YBX1 Y box binding protein 1 umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 7525 YES1 YES proto-oncogene 1, Src family tyrosine kinase umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10897 YIF1A Yip1 interacting factor homolog A (S. cerevisiae) umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 10897 YIF1A Yip1 interacting factor homolog A (S. cerevisiae) umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 25844 YIPF3 Yip1 domain family, member 3 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 81555 YIPF5 Yip1 domain family, member 5 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 51646 YPEL5 yippee-like 5 (Drosophila) umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 253943 YTHDF3 YTH N(6)-methyladenosine RNA binding protein 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7531 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon umls:C1955870 Classical Lissencephalies and Subcortical Band Heterotopias 0.21 0 Biomarker CTD_human 7533 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta umls:C0878544 Cardiomyopathies 0.21 1 Therapeutic CTD_human 7533 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta umls:C0011853 Diabetes Mellitus, Experimental 0.21 1 Therapeutic CTD_human 7533 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 10971 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta umls:C0029408 Osteoarthritis 0.21 1 Biomarker CTD_human 7534 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 7534 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta umls:C0024667 Mammary Neoplasms, Animal 0.21 1 Biomarker CTD_human 7534 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta umls:C0024668 Mammary Neoplasms, Experimental 0.21 1 Biomarker CTD_human 7534 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta umls:C0027643 Neoplasm Recurrence, Local 0.21 1 Biomarker CTD_human 7528 YY1 YY1 transcription factor umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 7528 YY1 YY1 transcription factor umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 7528 YY1 YY1 transcription factor umls:C0007873 Uterine Cervical Neoplasms 0.21 1 Biomarker CTD_human 7535 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa umls:C0021051 Immunologic Deficiency Syndromes 0.21 1 Biomarker CTD_human 7535 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa umls:C2931320 T cell immunodeficiency primary 0.21 1 Biomarker CTD_human 9889 ZBED4 zinc finger, BED-type containing 4 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 9923 ZBTB40 zinc finger and BTB domain containing 40 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 51341 ZBTB7A zinc finger and BTB domain containing 7A umls:C0033578 Prostatic Neoplasms 0.21 1 Therapeutic CTD_human 339487 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand umls:C0032927 Precancerous Conditions 0.21 1 Biomarker CTD_human 9877 ZC3H11A zinc finger CCCH-type containing 11A umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 80149 ZC3H12A zinc finger CCCH-type containing 12A umls:C0003838 Arterial Occlusive Diseases 0.21 1 Biomarker CTD_human 85463 ZC3H12C zinc finger CCCH-type containing 12C umls:C0033860 Psoriasis 0.21 1 Biomarker CTD_human 54877 ZCCHC2 zinc finger, CCHC domain containing 2 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 54877 ZCCHC2 zinc finger, CCHC domain containing 2 umls:C0021400 Influenza, Human 0.21 1 Biomarker CTD_human 55596 ZCCHC8 zinc finger, CCHC domain containing 8 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 780914 ZD1 Zygodactyly 1 umls:C1853294 Zygodactyly 1 0.21 0 Biomarker CTD_human 57683 ZDBF2 zinc finger, DBF-type containing 2 umls:C0149925 Small Cell Lung Carcinoma 0.21 1 Biomarker CTD_human 54503 ZDHHC13 zinc finger, DHHC-type containing 13 umls:C0002170 Alopecia 0.21 1 Biomarker CTD_human 54503 ZDHHC13 zinc finger, DHHC-type containing 13 umls:C0002726 Amyloidosis 0.21 1 Biomarker CTD_human 158866 ZDHHC15 zinc finger, DHHC-type containing 15 umls:C1845142 Mental Retardation, X-Linked 91 0.21 0 Biomarker CTD_human 51201 ZDHHC2 zinc finger, DHHC-type containing 2 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 51201 ZDHHC2 zinc finger, DHHC-type containing 2 umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 6935 ZEB1 zinc finger E-box binding homeobox 1 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 6935 ZEB1 zinc finger E-box binding homeobox 1 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 6935 ZEB1 zinc finger E-box binding homeobox 1 umls:C0014170 Endometrial Neoplasms 0.21 1 Biomarker CTD_human 6935 ZEB1 zinc finger E-box binding homeobox 1 umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 6935 ZEB1 zinc finger E-box binding homeobox 1 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 6935 ZEB1 zinc finger E-box binding homeobox 1 umls:C0919267 Ovarian Neoplasms 0.21 1 Biomarker CTD_human 9839 ZEB2 zinc finger E-box binding homeobox 2 umls:C0007621 Cell Transformation, Neoplastic 0.21 1 Biomarker CTD_human 9839 ZEB2 zinc finger E-box binding homeobox 2 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 9839 ZEB2 zinc finger E-box binding homeobox 2 umls:C0027626 Neoplasm Invasiveness 0.21 1 Biomarker CTD_human 7763 ZFAND5 zinc finger, AN1-type domain 5 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 54469 ZFAND6 zinc finger, AN1-type domain 6 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 54469 ZFAND6 zinc finger, AN1-type domain 6 umls:C0520757 Delayed Emergence from Anesthesia 0.21 1 Biomarker CTD_human 54469 ZFAND6 zinc finger, AN1-type domain 6 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 57623 ZFAT zinc finger and AT hook domain containing umls:C0920350 Thyroiditis, Autoimmune 0.21 0 Biomarker CTD_human 7538 ZFP36 ZFP36 ring finger protein umls:C0002170 Alopecia 0.21 1 Biomarker CTD_human 7538 ZFP36 ZFP36 ring finger protein umls:C0020507 Hyperplasia 0.21 1 Biomarker CTD_human 7538 ZFP36 ZFP36 ring finger protein umls:C0021368 Inflammation 0.21 1 Biomarker CTD_human 7538 ZFP36 ZFP36 ring finger protein umls:C0151744 Myocardial Ischemia 0.21 1 Biomarker CTD_human 678 ZFP36L2 ZFP36 ring finger protein-like 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7546 ZIC2 Zic family member 2 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 7547 ZIC3 Zic family member 3 umls:C0005941 Bone Diseases, Developmental 0.21 1 Biomarker CTD_human 7547 ZIC3 Zic family member 3 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 7547 ZIC3 Zic family member 3 umls:C0011813 Dextrocardia 0.21 1 Biomarker CTD_human 7547 ZIC3 Zic family member 3 umls:C1306710 Facial Asymmetry 0.21 1 Biomarker CTD_human 85416 ZIC5 Zic family member 5 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 85416 ZIC5 Zic family member 5 umls:C0027794 Neural Tube Defects 0.21 1 Biomarker CTD_human 23619 ZIM2 zinc finger, imprinted 2 umls:C0010606 Carcinoma, Adenoid Cystic 0.21 1 Biomarker CTD_human 23619 ZIM2 zinc finger, imprinted 2 umls:C0036095 Salivary Gland Neoplasms 0.21 1 Biomarker CTD_human 353173 ZLS Zimmerman-Laband Syndrome umls:C0796013 Zimmerman Laband syndrome 0.21 0 Biomarker CTD_human 64393 ZMAT3 zinc finger, matrin-type 3 umls:C0027746 Nerve Degeneration 0.21 1 Biomarker CTD_human 57178 ZMIZ1 zinc finger, MIZ-type containing 1 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 10269 ZMPSTE24 zinc metallopeptidase STE24 umls:C0376634 Craniofacial Abnormalities 0.21 1 Biomarker CTD_human 10269 ZMPSTE24 zinc metallopeptidase STE24 umls:C1136321 HIV-Associated Lipodystrophy Syndrome 0.21 1 Biomarker CTD_human 10269 ZMPSTE24 zinc metallopeptidase STE24 umls:C0024689 Mandibular Diseases 0.21 1 Biomarker CTD_human 9205 ZMYM5 zinc finger, MYM-type 5 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 7690 ZNF131 zinc finger protein 131 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 90338 ZNF160 zinc finger protein 160 umls:C0033578 Prostatic Neoplasms 0.21 1 Biomarker CTD_human 90338 ZNF160 zinc finger protein 160 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7730 ZNF177 zinc finger protein 177 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 7755 ZNF205 zinc finger protein 205 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 10308 ZNF267 zinc finger protein 267 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 10308 ZNF267 zinc finger protein 267 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 55422 ZNF331 zinc finger protein 331 umls:C0311375 Arsenic Poisoning 0.21 1 Biomarker CTD_human 55422 ZNF331 zinc finger protein 331 umls:C0037274 Skin Diseases 0.21 1 Biomarker CTD_human 22891 ZNF365 zinc finger protein 365 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 22891 ZNF365 zinc finger protein 365 umls:C0011615 Dermatitis, Atopic 0.21 1 Biomarker CTD_human 167465 ZNF366 zinc finger protein 366 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 151126 ZNF385B zinc finger protein 385B umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 79750 ZNF385D zinc finger protein 385D umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 79750 ZNF385D zinc finger protein 385D umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 7592 ZNF41 zinc finger protein 41 umls:C0009241 Cognition Disorders 0.21 1 Biomarker CTD_human 23090 ZNF423 zinc finger protein 423 umls:C0236733 Amphetamine-Related Disorders 0.21 1 Biomarker CTD_human 80264 ZNF430 zinc finger protein 430 umls:C0032460 Polycystic Ovary Syndrome 0.21 1 Biomarker CTD_human 9668 ZNF432 zinc finger protein 432 umls:C1458155 Breast Neoplasms 0.21 1 Biomarker CTD_human 9668 ZNF432 zinc finger protein 432 umls:C0009404 Colorectal Neoplasms 0.21 1 Biomarker CTD_human 220929 ZNF438 zinc finger protein 438 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 84627 ZNF469 zinc finger protein 469 umls:C0022410 Joint Instability 0.21 1 Biomarker CTD_human 84627 ZNF469 zinc finger protein 469 umls:C0037268 Skin Abnormalities 0.21 1 Biomarker CTD_human 147657 ZNF480 zinc finger protein 480 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 116115 ZNF526 zinc finger protein 526 umls:C3714756 Intellectual Disability 0.21 1 Biomarker CTD_human 348327 ZNF530 zinc finger protein 530 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 9745 ZNF536 zinc finger protein 536 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 84527 ZNF559 zinc finger protein 559 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 147929 ZNF565 zinc finger protein 565 umls:C0036341 Schizophrenia 0.21 1 Biomarker CTD_human 51042 ZNF593 zinc finger protein 593 umls:C0242656 Disease Progression 0.21 1 Biomarker CTD_human 51042 ZNF593 zinc finger protein 593 umls:C0038356 Stomach Neoplasms 0.21 1 Biomarker CTD_human 169270 ZNF596 zinc finger protein 596 umls:C0031117 Peripheral Nervous System Diseases 0.21 1 Biomarker CTD_human 80095 ZNF606 zinc finger protein 606 umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 163223 ZNF676 zinc finger protein 676 umls:C0040128 Thyroid Diseases 0.21 1 Biomarker CTD_human 257101 ZNF683 zinc finger protein 683 umls:C0263454 Chloracne 0.21 1 Biomarker CTD_human 91661 ZNF765 zinc finger protein 765 umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 91752 ZNF804A zinc finger protein 804A umls:C0007134 Carcinoma, Renal Cell 0.21 1 Biomarker CTD_human 91752 ZNF804A zinc finger protein 804A umls:C0236969 Substance-Related Disorders 0.21 1 Biomarker CTD_human 128611 ZNF831 zinc finger protein 831 umls:C0025202 Melanoma 0.21 1 Biomarker CTD_human 9326 ZNHIT3 zinc finger, HIT-type containing 3 umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 84133 ZNRF3 zinc and ring finger 3 umls:C0206686 Adrenocortical Carcinoma 0.21 1 Biomarker CTD_human 84133 ZNRF3 zinc and ring finger 3 umls:C0030297 Pancreatic Neoplasms 0.21 1 Biomarker CTD_human 342945 ZSCAN22 zinc finger and SCAN domain containing 22 umls:C0023903 Liver Neoplasms 0.21 1 Biomarker CTD_human 9183 ZW10 zw10 kinetochore protein umls:C0029463 Osteosarcoma 0.21 1 Biomarker CTD_human 55055 ZWILCH zwilch kinetochore protein umls:C0043094 Weight Gain 0.21 1 Biomarker CTD_human 11130 ZWINT ZW10 interacting kinetochore protein umls:C0017661 Glomerulonephritis, IGA 0.21 1 Biomarker CTD_human 2778 GNAS GNAS complex locus umls:C1864100 PSEUDOHYPOPARATHYROIDISM, TYPE IB 0.209922659953278 35 Biomarker, GeneticVariation BeFree, CLINVAR 1071 CETP cholesteryl ester transfer protein, plasma umls:C0342883 Cholesteryl Ester Transfer Protein Deficiency 0.209922659953278 35 Biomarker, GeneticVariation BeFree, CLINVAR 7389 UROD uroporphyrinogen decarboxylase umls:C0268323 Familial porphyria cutanea tarda 0.209639155383185 34 Biomarker, GeneticVariation BeFree, CLINVAR 7450 VWF von Willebrand factor umls:C1282971 von Willebrand disease type 2B 0.209639155383185 34 Biomarker, GeneticVariation BeFree, CLINVAR 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1141890 Congenital long QT syndrome 0.209639155383185 34 Biomarker, GeneticVariation BeFree, CLINVAR 5428 POLG polymerase (DNA directed), gamma umls:C0205710 Alpers' disease 0.208788641672904 31 Biomarker, GeneticVariation BeFree, CLINVAR 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0919267 Ovarian Neoplasms 0.208701749474563 7 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0023467 Leukemia, Myeloid, Acute 0.208574234953893 8 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 11155 LDB3 LIM domain binding 3 umls:C0007193 Cardiomyopathy, Dilated 0.208574234953893 7 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 673 BRAF B-Raf proto-oncogene, serine/threonine kinase umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.208554168061408 23 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 4487 MSX1 msh homeobox 1 umls:C0020608 Hypodontia 0.20850513710281 30 Biomarker, GeneticVariation BeFree, CLINVAR 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C0038644 Sudden Infant Death 0.208007225813705 5 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 6448 SGSH N-sulfoglucosamine sulfohydrolase umls:C0086647 Mucopolysaccharidosis Type IIIA 0.207938127962623 28 Biomarker, GeneticVariation BeFree, CLINVAR 6390 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) umls:C0238198 Gastrointestinal Stromal Tumors 0.207909163896509 20 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 8322 FZD4 frizzled class receptor 4 umls:C0035344 Retinopathy of Prematurity 0.207801716268324 4 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 675 BRCA2 breast cancer 2, early onset umls:C0027672 Neoplastic Syndromes, Hereditary 0.20751821169823 5 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 348 APOE apolipoprotein E umls:C0020476 Hyperlipoproteinemias 0.207420149781034 19 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 7287 TULP1 tubby like protein 1 umls:C0035334 Retinitis Pigmentosa 0.20739118571492 10 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C0040479 Torsades de Pointes 0.20739118571492 11 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 7389 UROD uroporphyrinogen decarboxylase umls:C0162569 Porphyria, Hepatoerythropoietic 0.207371118822435 26 Biomarker, GeneticVariation BeFree, CLINVAR 3043 HBB hemoglobin, beta umls:C0271980 beta^0^ Thalassemia 0.207371118822435 26 Biomarker, GeneticVariation BeFree, CLINVAR 10210 TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase umls:C0035334 Retinitis Pigmentosa 0.207362221648806 3 GeneticVariation CLINVAR, GAD, LHGDN 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C0271093 Stargardt Macular Degeneration 0.206951202558043 3 GeneticVariation CLINVAR, GAD 79188 TMEM43 transmembrane protein 43 umls:C0349788 Arrhythmogenic Right Ventricular Dysplasia 0.206824176574733 8 Biomarker, GeneticVariation BeFree, CLINVAR, GAD, LHGDN 51422 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit umls:C0878544 Cardiomyopathies 0.206746181550021 8 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 5468 PPARG peroxisome proliferator-activated receptor gamma umls:C0028756 Obesity, Morbid 0.206618667029351 8 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 26154 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 umls:C0239849 Harlequin fetus 0.206520605112154 23 Biomarker, GeneticVariation BeFree, CLINVAR 55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) umls:C0457133 Muscle eye brain disease 0.206520605112154 23 Biomarker, GeneticVariation BeFree, CLINVAR 335 APOA1 apolipoprotein A-I umls:C0039292 Tangier Disease 0.206491641046041 14 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C0037052 Sick Sinus Syndrome 0.206462676979927 6 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 7450 VWF von Willebrand factor umls:C1282968 von Willebrand disease type 2A 0.206237100542061 22 Biomarker, GeneticVariation BeFree, CLINVAR 79728 PALB2 partner and localizer of BRCA2 umls:C0346153 Breast Cancer, Familial 0.206237100542061 22 Biomarker, GeneticVariation BeFree, CLINVAR 11200 CHEK2 checkpoint kinase 2 umls:C0346153 Breast Cancer, Familial 0.206237100542061 22 Biomarker, GeneticVariation BeFree, CLINVAR 5320 PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) umls:C1527249 Colorectal Cancer 0.206051657889163 6 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 7450 VWF von Willebrand factor umls:C1282975 von Willebrand disease type 2N 0.206002626930565 13 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 3988 LIPA lipase A, lysosomal acid, cholesterol esterase umls:C0043208 Wolman Disease 0.205953595971967 21 Biomarker, GeneticVariation BeFree, CLINVAR 472 ATM ATM serine/threonine kinase umls:C2363142 Leukemia, Prolymphocytic, T-Cell 0.205953595971967 21 Biomarker, GeneticVariation BeFree, CLINVAR 10682 EBP emopamil binding protein (sterol isomerase) umls:C0282102 Chondrodysplasia punctata, X-linked dominant type 0.205953595971967 21 Biomarker, GeneticVariation BeFree, CLINVAR 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C0152013 Adenocarcinoma of lung 0.205953595971967 21 Biomarker, GeneticVariation BeFree, CLINVAR 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0023461 Leukemia, Mast-Cell 0.205924631905853 13 Biomarker, GeneticVariation, PostTranslationalModification BeFree, CLINVAR, LHGDN 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0677886 Ovarian epithelial cancer 0.205719122360472 13 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 3575 IL7R interleukin 7 receptor umls:C0085110 Severe Combined Immunodeficiency 0.205719122360472 12 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 4758 NEU1 sialidase 1 (lysosomal sialidase) umls:C0268226 Mucolipidosis type I 0.205670091401873 20 Biomarker, GeneticVariation BeFree, CLINVAR 5728 PTEN phosphatase and tensin homolog umls:C1959582 PTEN Hamartoma Tumor Syndrome 0.205670091401873 20 Biomarker, GeneticVariation BeFree, CLINVAR 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C0349788 Arrhythmogenic Right Ventricular Dysplasia 0.20564112733576 12 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 672 BRCA1 breast cancer 1, early onset umls:C0027672 Neoplastic Syndromes, Hereditary 0.205484648748976 5 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 6017 RLBP1 retinaldehyde binding protein 1 umls:C1405854 Retinitis punctata albescens (disorder) 0.205435617790378 11 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 472 ATM ATM serine/threonine kinase umls:C0334634 Lymphoma, Mantle-Cell 0.20538658683178 19 Biomarker, GeneticVariation BeFree, CLINVAR 1280 COL2A1 collagen, type II, alpha 1 umls:C0038015 spondyloepiphyseal dysplasia 0.20538658683178 19 Biomarker, GeneticVariation BeFree, CLINVAR 6663 SOX10 SRY (sex determining region Y)-box 10 umls:C2931876 Hirschsprung disease 1 0.20538658683178 19 Biomarker, GeneticVariation BeFree, CLINVAR 23592 LEMD3 LEM domain containing 3 umls:C0029455 Osteopoikilosis 0.205357622765666 10 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 5071 PARK2 parkin RBR E3 ubiquitin protein ligase umls:C0919267 Ovarian Neoplasms 0.205328658699552 3 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 3845 KRAS Kirsten rat sarcoma viral oncogene homolog umls:C0005684 Malignant neoplasm of bladder 0.205201144178882 4 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 7157 TP53 tumor protein p53 umls:C2675080 Li-Fraumeni-Like Syndrome 0.205103082261686 18 Biomarker, GeneticVariation BeFree, CLINVAR 8200 GDF5 growth differentiation factor 5 umls:C0029410 Osteoarthritis, Hip 0.204917639608789 3 GeneticVariation BeFree, CLINVAR, GAD 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C0002395 Alzheimer Disease 0.204917639608789 3 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 324 APC adenomatous polyposis coli umls:C0017097 Gardner Syndrome 0.204868608650191 9 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 1829 DSG2 desmoglein 2 umls:C0878544 Cardiomyopathies 0.204839644584077 2 GeneticVariation CLINVAR, GAD, LHGDN 2057 EPOR erythropoietin receptor umls:C0023440 Leukemia, Erythroblastic, Acute 0.204790613625479 9 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 811 CALR calreticulin umls:C0001815 Primary Myelofibrosis 0.204536073121499 16 Biomarker, GeneticVariation BeFree, CLINVAR 2010 EMD emerin umls:C0878544 Cardiomyopathies 0.204507109055385 8 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 775 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit umls:C1142166 Brugada Syndrome 0.204507109055385 8 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 7428 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase umls:C0027672 Neoplastic Syndromes, Hereditary 0.204507109055385 8 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 7099 TLR4 toll-like receptor 4 umls:C1864267 Endotoxin Hyporesponsiveness 0.204301599510003 7 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 6094 ROM1 retinal outer segment membrane protein 1 umls:C0035334 Retinitis Pigmentosa 0.204301599510003 7 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa umls:C0699790 Colon Carcinoma 0.204252568551405 15 Biomarker, GeneticVariation BeFree, CLINVAR 2018 EMX2 empty spiracles homeobox 2 umls:C0266484 Schizencephaly 0.20401809493991 6 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 4566 TRNK tRNA umls:C0162672 MERRF Syndrome 0.20401809493991 6 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 7414 VCL vinculin umls:C0007193 Cardiomyopathy, Dilated 0.20401809493991 7 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 410 ARSA arylsulfatase A umls:C0751278 Metachromatic leukodystrophy, congenital type 0.203969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR 3043 HBB hemoglobin, beta umls:C0472767 Beta thalassemia intermedia 0.203969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR 3043 HBB hemoglobin, beta umls:C0271979 thalassemia intermedia 0.203969063981311 14 Biomarker, GeneticVariation BeFree, CLINVAR 7490 WT1 Wilms tumor 1 umls:C0025500 Mesothelioma 0.203940099915198 6 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 324 APC adenomatous polyposis coli umls:C0206624 Hepatoblastoma 0.203685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR 5048 PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) umls:C1848201 Double cortex syndrome 0.203685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C0027773 Nesidioblastosis 0.203685559411218 13 Biomarker, GeneticVariation BeFree, CLINVAR 6391 SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa umls:C0238198 Gastrointestinal Stromal Tumors 0.203656595345104 5 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 8675 STX16 syntaxin 16 umls:C1864100 PSEUDOHYPOPARATHYROIDISM, TYPE IB 0.203402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR 4204 MECP2 methyl CpG binding protein 2 umls:C2748910 Rett Syndrome, Atypical 0.203402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR 5925 RB1 retinoblastoma 1 umls:C0005684 Malignant neoplasm of bladder 0.203402054841124 12 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR 10194 TSHZ1 teashirt zinc finger homeobox 1 umls:C1842937 Aural Atresia, Congenital 0.203402054841124 12 Biomarker, GeneticVariation BeFree, CLINVAR 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C0878544 Cardiomyopathies 0.203167581229629 4 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 7450 VWF von Willebrand factor umls:C1282974 von Willebrand disease type 2M 0.20311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR 472 ATM ATM serine/threonine kinase umls:C0346153 Breast Cancer, Familial 0.20311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR 5728 PTEN phosphatase and tensin homolog umls:C0391826 Lhermitte-Duclos disease 0.20311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR 4647 MYO7A myosin VIIA umls:C1848638 Usher Syndrome, Type Ib 0.20311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR 3045 HBD hemoglobin, delta umls:C0271990 delta-Thalassemia 0.20311855027103 11 Biomarker, GeneticVariation BeFree, CLINVAR 6262 RYR2 ryanodine receptor 2 (cardiac) umls:C0007193 Cardiomyopathy, Dilated 0.203089586204917 2 Biomarker, GeneticVariation BeFree, CLINVAR, LHGDN 8915 BCL10 B-cell CLL/lymphoma 10 umls:C0024301 Lymphoma, Follicular 0.202884076659535 3 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 15 AANAT aralkylamine N-acetyltransferase umls:C0393770 delayed sleep phase syndrome 0.202884076659535 2 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 4519 CYTB cytochrome b umls:C0028754 Obesity 0.202884076659535 3 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 779 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit umls:C0268446 Thyrotoxic periodic paralysis 0.202884076659535 3 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C0878544 Cardiomyopathies 0.202884076659535 3 GeneticVariation BeFree, CLINVAR, GAD 4053 LTBP2 latent transforming growth factor beta binding protein 2 umls:C0206368 Exfoliation Syndrome 0.202884076659535 3 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 581 BAX BCL2-associated X protein umls:C0699790 Colon Carcinoma 0.202835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR 2538 G6PC glucose-6-phosphatase, catalytic subunit umls:C0268146 Glycogen Storage Disease IB 0.202835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR 7157 TP53 tumor protein p53 umls:C0431109 Choroid Plexus Carcinoma 0.202835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR 1630 DCC DCC netrin 1 receptor umls:C0699790 Colon Carcinoma 0.202835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR 353 APRT adenine phosphoribosyltransferase umls:C0268120 Adenine phosphoribosyltransferase deficiency 0.202835045700937 10 Biomarker, GeneticVariation BeFree, CLINVAR 611 OPN1SW opsin 1 (cone pigments), short-wave-sensitive umls:C0155017 Tritan defect 0.202600572089441 1 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 7490 WT1 Wilms tumor 1 umls:C0268747 Mesangial sclerosis, diffuse 0.202600572089441 2 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 4567 TRNL1 tRNA umls:C0162672 MERRF Syndrome 0.202600572089441 1 GeneticVariation BeFree, CLINVAR, GAD 1482 NKX2-5 NK2 homeobox 5 umls:C0013069 Double Outlet Right Ventricle 0.202600572089441 2 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 1824 DSC2 desmocollin 2 umls:C0878544 Cardiomyopathies 0.202600572089441 2 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 4624 MYH6 myosin, heavy chain 6, cardiac muscle, alpha umls:C0018798 Heart Defects, Congenital 0.202600572089441 1 Biomarker, GeneticVariation BeFree, CLINVAR, GAD 4942 OAT ornithine aminotransferase umls:C0599035 Hyperornithinemia 0.202551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR 5888 RAD51 RAD51 recombinase umls:C0346153 Breast Cancer, Familial 0.202551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR 2147 F2 coagulation factor II (thrombin) umls:C0272317 Dysprothrombinemia 0.202551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR 8048 CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) umls:C0878544 Cardiomyopathies 0.202551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C2348199 Short Qt Syndrome 0.202551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR 4595 MUTYH mutY homolog umls:C0699790 Colon Carcinoma 0.202551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR 6910 TBX5 T-box 5 umls:C0018798 Heart Defects, Congenital 0.202551541130843 9 Biomarker, GeneticVariation BeFree, CLINVAR 6338 SCNN1B sodium channel, non voltage gated 1 beta subunit umls:C0006267 Bronchiectasis 0.202522577064729 1 GeneticVariation CLINVAR, LHGDN 4536 ND2 MTND2 umls:C0023264 Leigh Disease 0.202522577064729 1 GeneticVariation CLINVAR, LHGDN 999 CDH1 cadherin 1, type 1, E-cadherin (epithelial) umls:C0027672 Neoplastic Syndromes, Hereditary 0.202522577064729 1 GeneticVariation CLINVAR, LHGDN 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C0004238 Atrial Fibrillation 0.202522577064729 1 GeneticVariation CLINVAR, LHGDN 287 ANK2 ankyrin 2, neuronal umls:C0003811 Arrhythmias, Cardiac 0.202522577064729 1 GeneticVariation CLINVAR, LHGDN 845 CASQ2 calsequestrin 2 (cardiac muscle) umls:C0003811 Arrhythmias, Cardiac 0.202522577064729 1 Biomarker, GeneticVariation CLINVAR, LHGDN 4634 MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.202522577064729 1 GeneticVariation CLINVAR, LHGDN 287 ANK2 ankyrin 2, neuronal umls:C0040479 Torsades de Pointes 0.202522577064729 1 Biomarker, GeneticVariation CLINVAR, LHGDN 9049 AIP aryl hydrocarbon receptor interacting protein umls:C0221406 Pituitary ACTH Hypersecretion 0.202317067519348 1 GeneticVariation CLINVAR, GAD 7352 UCP3 uncoupling protein 3 (mitochondrial, proton carrier) umls:C0028756 Obesity, Morbid 0.202317067519348 1 GeneticVariation CLINVAR, GAD 4519 CYTB cytochrome b umls:C1527249 Colorectal Cancer 0.202317067519348 1 GeneticVariation CLINVAR, GAD 4539 ND4L NADH dehydrogenase, subunit 4L (complex I) umls:C1527249 Colorectal Cancer 0.202317067519348 1 GeneticVariation CLINVAR, GAD 153 ADRB1 adrenoceptor beta 1 umls:C1821417 Resting heart rate 0.202317067519348 1 GeneticVariation CLINVAR, GAD 2747 GLUD2 glutamate dehydrogenase 2 umls:C0030567 Parkinson Disease 0.202317067519348 1 GeneticVariation CLINVAR, GAD 8915 BCL10 B-cell CLL/lymphoma 10 umls:C0153594 Testicular Cancer 0.202317067519348 1 GeneticVariation CLINVAR, GAD 657 BMPR1A bone morphogenetic protein receptor, type IA umls:C0027672 Neoplastic Syndromes, Hereditary 0.202317067519348 1 GeneticVariation CLINVAR, GAD 4089 SMAD4 SMAD family member 4 umls:C0027672 Neoplastic Syndromes, Hereditary 0.202317067519348 1 GeneticVariation CLINVAR, GAD 9227 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) umls:C0035334 Retinitis Pigmentosa 0.202317067519348 1 GeneticVariation CLINVAR, GAD 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C3277849 17,20-Lyase Deficiency, Isolated 0.202268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR 2296 FOXC1 forkhead box C1 umls:C0266548 Axenfeld anomaly 0.202268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR 3040 HBA2 hemoglobin, alpha 2 umls:C0472762 Alpha trait thalassemia 0.202268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR 83990 BRIP1 BRCA1 interacting protein C-terminal helicase 1 umls:C0346153 Breast Cancer, Familial 0.202268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR 4647 MYO7A myosin VIIA umls:C0035334 Retinitis Pigmentosa 0.202268036560749 8 Biomarker, GeneticVariation BeFree, CLINVAR 1371 CPOX coproporphyrinogen oxidase umls:C0342859 Harderoporphyria 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 23322 RPGRIP1L RPGRIP1-like umls:C0431399 Agenesis of Cerebellar Vermis 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 57716 PRX periaxin umls:C0011195 dejerine-sottas disease 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 6794 STK11 serine/threonine kinase 11 umls:C0235974 Pancreatic Carcinoma 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 2200 FBN1 fibrillin 1 umls:C1851286 Ectopia lentis isolated 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 335 APOA1 apolipoprotein A-I umls:C1704429 Familial hypoalphalipoproteinemia 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 100151683 RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) umls:C1859452 Microcephalic osteodysplastic primordial dwarfism, type 1 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 91147 TMEM67 transmembrane protein 67 umls:C0265215 Meckel-Gruber syndrome 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 10585 POMT1 protein-O-mannosyltransferase 1 umls:C0699743 Congenital muscular dystrophy 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 29954 POMT2 protein-O-mannosyltransferase 2 umls:C0699743 Congenital muscular dystrophy 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 3753 KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 umls:C1141890 Congenital long QT syndrome 0.201984531990656 7 Biomarker, GeneticVariation BeFree, CLINVAR 1727 CYB5R3 cytochrome b5 reductase 3 umls:C2749559 Methemoglobinemia, Type I 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C1861923 Acampomelic Campomelic Dysplasia 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) umls:C0699743 Congenital muscular dystrophy 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 10002 NR2E3 nuclear receptor subfamily 2, group E, member 3 umls:C0339541 Goldmann-Favre syndrome 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 8313 AXIN2 axin 2 umls:C0699790 Colon Carcinoma 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 5309 PITX3 paired-like homeodomain 3 umls:C0009691 Congenital cataract 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 5205 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 umls:C0268318 Intrahepatic Cholestasis of Pregnancy 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 4437 MSH3 mutS homolog 3 umls:C0476089 Endometrial Carcinoma 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 2334 AFF2 AF4/FMR2 family, member 2 umls:C0751157 FRAXE 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 50945 TBX22 T-box 22 umls:C1844831 Cleft Palate with Ankyloglossia 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 7157 TP53 tumor protein p53 umls:C0858252 Breast Adenocarcinoma 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 5155 PDGFB platelet-derived growth factor beta polypeptide umls:C0025286 Meningioma 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 2006 ELN elastin umls:C0268350 Cutis Laxa, Autosomal Dominant 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 1280 COL2A1 collagen, type II, alpha 1 umls:C0542428 Hypochondrogenesis 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 5573 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha umls:C0220659 Acrodysostosis 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 29123 ANKRD11 ankyrin repeat domain 11 umls:C0220687 KBG syndrome 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 203228 C9orf72 chromosome 9 open reading frame 72 umls:C1862937 Frontotemporal Dementia With Motor Neuron Disease 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 1786 DNMT1 DNA (cytosine-5-)-methyltransferase 1 umls:C1858804 Cerebellar Ataxia, Deafness, and Narcolepsy 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 5728 PTEN phosphatase and tensin homolog umls:C0027672 Neoplastic Syndromes, Hereditary 0.201701027420562 6 Biomarker, GeneticVariation BeFree, CLINVAR 10395 DLC1 DLC1 Rho GTPase activating protein umls:C0699790 Colon Carcinoma 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C0007279 Carotid Body Tumor 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 5795 PTPRJ protein tyrosine phosphatase, receptor type, J umls:C0699790 Colon Carcinoma 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 4538 ND4 NADH dehydrogenase, subunit 4 (complex I) umls:C0023264 Leigh Disease 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 3043 HBB hemoglobin, beta umls:C0002878 Anemia, Hemolytic 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 8452 CUL3 cullin 3 umls:C1449844 Pseudohypoaldosteronism, type 2 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 23522 KAT6B K(lysine) acetyltransferase 6B umls:C1853566 Genitopatellar Syndrome 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C2732979 Acquired long QT syndrome 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 80184 CEP290 centrosomal protein 290kDa umls:C0265215 Meckel-Gruber syndrome 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 1778 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 umls:C0007959 Charcot-Marie-Tooth Disease 0.201417522850468 5 Biomarker, GeneticVariation BeFree, CLINVAR 1727 CYB5R3 cytochrome b5 reductase 3 umls:C2749560 Methemoglobinemia, Type Ii 0.201134018280375 4 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR 282996 RBM20 RNA binding motif protein 20 umls:C0007193 Cardiomyopathy, Dilated 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 27235 COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase umls:C1843920 Coenzyme Q10 Deficiency 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 410 ARSA arylsulfatase A umls:C0751279 Metachromatic leukodystrophy, adult type 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 410 ARSA arylsulfatase A umls:C0751276 Metachromatic leukodystrophy, juvenile type 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 132884 EVC2 Ellis van Creveld syndrome 2 umls:C0457013 Weyers acrofacial dysostosis 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 57190 SEPN1 selenoprotein N, 1 umls:C0546264 Congenital Fiber-Type Disproportion 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 9992 KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 umls:C1141890 Congenital long QT syndrome 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 8643 PTCH2 patched 2 umls:C0004779 Basal Cell Nevus Syndrome 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 3766 KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 umls:C1863752 Enlarged Vestibular Aqueduct 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 582 BBS1 Bardet-Biedl syndrome 1 umls:C2936862 Bardet-Biedl syndrome 1 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 7157 TP53 tumor protein p53 umls:C0027672 Neoplastic Syndromes, Hereditary 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0699790 Colon Carcinoma 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 26249 KLHL3 kelch-like family member 3 umls:C1449844 Pseudohypoaldosteronism, type 2 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 10847 SRCAP Snf2-related CREBBP activator protein umls:C0729582 Floating-harbor syndrome 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 406960 MIR184 microRNA 184 umls:C3280392 EDICT SYNDROME 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 768206 PRCD progressive rod-cone degeneration umls:C0035334 Retinitis Pigmentosa 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 4117 MAK male germ cell-associated kinase umls:C0035334 Retinitis Pigmentosa 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 23020 SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) umls:C0035334 Retinitis Pigmentosa 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 1778 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 umls:C0026847 Muscular Atrophy, Spinal 0.201134018280375 4 Biomarker, GeneticVariation BeFree, CLINVAR 178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase umls:C1968739 Glycogen Storage Disease IIIA 0.200850513710281 3 AlteredExpression, Biomarker, GeneticVariation BeFree, CLINVAR 178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase umls:C1968740 Glycogen Storage Disease IIIB 0.200850513710281 3 AlteredExpression, GeneticVariation BeFree, CLINVAR 51684 SUFU suppressor of fused homolog (Drosophila) umls:C0751291 Desmoplastic medulloblastoma 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 8929 PHOX2B paired-like homeobox 2b umls:C1859049 CCHS WITH HIRSCHSPRUNG DISEASE 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 23414 ZFPM2 zinc finger protein, FOG family member 2 umls:C0013069 Double Outlet Right Ventricle 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C0432272 Hyperostosis corticalis generalisata 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 2033 EP300 E1A binding protein p300 umls:C0699790 Colon Carcinoma 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 4968 OGG1 8-oxoguanine DNA glycosylase umls:C0279702 Hypernephroma 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 7421 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor umls:C0268690 Rickets, Hereditary Vitamin D-Resistant 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 9180 OSMR oncostatin M receptor umls:C0268397 Amyloidosis, Primary Cutaneous 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 7251 TSG101 tumor susceptibility 101 umls:C0346153 Breast Cancer, Familial 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 91 ACVR1B activin A receptor, type IB umls:C0235974 Pancreatic Carcinoma 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 846 CASR calcium-sensing receptor umls:C1809471 Familial benign hypercalcemia 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 3508 IGHMBP2 immunoglobulin mu binding protein 2 umls:C0043116 Werdnig-Hoffmann Disease 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 1261 CNGA3 cyclic nucleotide gated channel alpha 3 umls:C0302129 Achromatopsia 1 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 4519 CYTB cytochrome b umls:C0559758 Multisystem disorder 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 4541 ND6 NADH dehydrogenase, subunit 6 (complex I) umls:C0023264 Leigh Disease 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 2623 GATA1 GATA binding protein 1 (globin transcription factor 1) umls:C1845837 Dyserythropoietic Anemia with Thrombocytopenia 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 2263 FGFR2 fibroblast growth factor receptor 2 umls:C0175699 Saethre-Chotzen Syndrome 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0334082 Epidermal Nevus 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 5243 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 umls:C1861502 COLCHICINE RESISTANCE 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 3107 HLA-C major histocompatibility complex, class I, C umls:C1867449 PSORIASIS SUSCEPTIBILITY 1 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 3067 HDC histidine decarboxylase umls:C0040517 Tourette Syndrome 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 355 FAS Fas cell surface death receptor umls:C1866119 Autoimmune Lymphoproliferative Syndrome, Type IA 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 650 BMP2 bone morphogenetic protein 2 umls:C1832702 Brachydactyly type A2 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 1301 COL11A1 collagen, type XI, alpha 1 umls:C0265282 Fibrochondrogenesis 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 5696 PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 umls:C1850568 Nakajo syndrome 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 22852 ANKRD26 ankyrin repeat domain 26 umls:C1861185 Thrombocytopenia chromosome breakage 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 57514 ARHGAP31 Rho GTPase activating protein 31 umls:C0265268 Adams Oliver syndrome 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 10262 SF3B4 splicing factor 3b, subunit 4, 49kDa umls:C0265245 Acrofacial dysostosis, Nager type 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 284058 KANSL1 KAT8 regulatory NSL complex subunit 1 umls:C1864871 Chromosome 17q21.31 Deletion Syndrome 0.200850513710281 3 GeneticVariation BeFree, CLINVAR 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C1960469 Left ventricular noncompaction 0.200850513710281 3 GeneticVariation BeFree, CLINVAR 1832 DSP desmoplakin umls:C0007193 Cardiomyopathy, Dilated 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 27235 COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase umls:C0037019 Shy-Drager Syndrome 0.200850513710281 3 Biomarker, GeneticVariation BeFree, CLINVAR 100134444 KCNJ18 potassium channel, inwardly rectifying subfamily J, member 18 umls:C0268446 Thyrotoxic periodic paralysis 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 324 APC adenomatous polyposis coli umls:C0027672 Neoplastic Syndromes, Hereditary 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 3074 HEXB hexosaminidase B (beta polypeptide) umls:C0751490 Infantile Sandhoff Disease 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 51151 SLC45A2 solute carrier family 45, member 2 umls:C0151779 Melanoma, Cutaneous Malignant 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 64327 LMBR1 limb development membrane protein 1 umls:C0241397 Triphalangeal Thumb 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 59341 TRPV4 transient receptor potential cation channel, subfamily V, member 4 umls:C2079540 Charcot-Marie-Tooth disease, Type 2C 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 9095 TBX19 T-box 19 umls:C0342388 Adrenocorticotropic hormone deficiency 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 9244 CRLF1 cytokine receptor-like factor 1 umls:C1848947 Cold-Induced Sweating Syndrome 1 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 8398 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) umls:C2750220 Karak Syndrome 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 8915 BCL10 B-cell CLL/lymphoma 10 umls:C0025500 Mesothelioma 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 8915 BCL10 B-cell CLL/lymphoma 10 umls:C0699790 Colon Carcinoma 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 4683 NBN nibrin umls:C0002874 Anemia, Aplastic 0.200567009140187 2 GeneticVariation BeFree, CLINVAR 3299 HSF4 heat shock transcription factor 4 umls:C0266537 Congenital lamellar cataract 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 1785 DNM2 dynamin 2 umls:C0410203 Myotubular myopathy, X-linked 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 6794 STK11 serine/threonine kinase 11 umls:C0153594 Testicular Cancer 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 4175 MCM6 minichromosome maintenance complex component 6 umls:C1857231 LACTASE PERSISTENCE 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 2643 GCH1 GTP cyclohydrolase 1 umls:C2673535 Segawa syndrome, autosomal recessive 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 1029 CDKN2A cyclin-dependent kinase inhibitor 2A umls:C0027672 Neoplastic Syndromes, Hereditary 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 5782 PTPN12 protein tyrosine phosphatase, non-receptor type 12 umls:C0699790 Colon Carcinoma 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 4566 TRNK tRNA umls:C0023264 Leigh Disease 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 1641 DCX doublecortin umls:C1848070 Lissencephaly and agenesis of corpus callosum 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog umls:C0153594 Testicular Cancer 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 9782 MATR3 matrin 3 umls:C1853723 Myopathy, Distal 2 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 3198 HOXA1 homeobox A1 umls:C1832216 Bosley-Salih-Alorainy Syndrome 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 3043 HBB hemoglobin, beta umls:C1527405 Erythrocytosis 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 3040 HBA2 hemoglobin, alpha 2 umls:C1527405 Erythrocytosis 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 2243 FGA fibrinogen alpha chain umls:C1260903 Dysfibrinogenemia 0.200567009140187 2 GeneticVariation BeFree, CLINVAR 2073 ERCC5 excision repair cross-complementation group 5 umls:C1968561 Xeroderma Pigmentosum, Type G/Cockayne Syndrome 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 4221 MEN1 multiple endocrine neoplasia I umls:C0280089 Carcinoid tumor of lung 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 718 C3 complement component 3 umls:C1332655 C3 Deficiency 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 847 CAT catalase umls:C2936847 Acatalasemia Japanese type 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 270 AMPD1 adenosine monophosphate deaminase 1 umls:C0268123 Muscle AMP deaminase deficiency 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 2627 GATA6 GATA binding protein 6 umls:C0041207 Truncus Arteriosus, Persistent 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 28234 SLCO1B3 solute carrier organic anion transporter family, member 1B3 umls:C0220991 Rotor syndrome 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 23522 KAT6B K(lysine) acetyltransferase 6B umls:C1863557 Young Simpson syndrome 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 55750 AGK acylglycerol kinase umls:C1859317 Cataract and cardiomyopathy 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 154288 KHDC3L KH domain containing 3-like, subcortical maternal complex member umls:C0678213 Complete hydatidiform mole 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 79641 ROGDI rogdi homolog (Drosophila) umls:C0406740 Kohlschutter Tonz syndrome 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C1854630 Growth Deficiency and Mental Retardation with Facial Dysmorphism 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 54507 ADAMTSL4 ADAMTS-like 4 umls:C1644196 Ectopia Lentis with Ectopia of Pupil 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 11152 WDR45 WD repeat domain 45 umls:C3550973 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 0.200567009140187 2 GeneticVariation BeFree, CLINVAR 84168 ANTXR1 anthrax toxin receptor 1 umls:C0406723 Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C2732979 Acquired long QT syndrome 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 2760 GM2A GM2 ganglioside activator umls:C0039373 Tay-Sachs Disease 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 54585 LZTFL1 leucine zipper transcription factor-like 1 umls:C0752166 Bardet-Biedl Syndrome 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 145258 GSC goosecoid homeobox umls:C1865361 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 4053 LTBP2 latent transforming growth factor beta binding protein 2 umls:C0339573 Glaucoma, Primary Open Angle 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 4292 MLH1 mutL homolog 1 umls:C0027672 Neoplastic Syndromes, Hereditary 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 4436 MSH2 mutS homolog 2 umls:C0027672 Neoplastic Syndromes, Hereditary 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 7439 BEST1 bestrophin 1 umls:C0035334 Retinitis Pigmentosa 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C0023264 Leigh Disease 0.200567009140187 2 GeneticVariation BeFree, CLINVAR 4514 COX3 cytochrome c oxidase III umls:C0023264 Leigh Disease 0.200567009140187 2 Biomarker, GeneticVariation BeFree, CLINVAR 6948 TCN2 transcobalamin II umls:C0342701 Transcobalamin II deficiency 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 137814 NKX2-6 NK2 homeobox 6 umls:C0041207 Truncus Arteriosus, Persistent 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 92579 G6PC3 glucose 6 phosphatase, catalytic, 3 umls:C2751630 Dursun Syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 149775 GNAS-AS1 GNAS antisense RNA 1 umls:C1864100 PSEUDOHYPOPARATHYROIDISM, TYPE IB 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 1373 CPS1 carbamoyl-phosphate synthase 1, mitochondrial umls:C0032768 Neuralgia, Postherpetic 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4758 NEU1 sialidase 1 (lysosomal sialidase) umls:C1850510 Sialidosis, Type I 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C1842462 Campomelic Dysplasia with Autosomal Sex Reversal 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 201163 FLCN folliculin umls:C1266042 Chromophobe Renal Cell Carcinoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 201163 FLCN folliculin umls:C0699790 Colon Carcinoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 60681 FKBP10 FK506 binding protein 10, 65 kDa umls:C3151218 OSTEOGENESIS IMPERFECTA, TYPE XI 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 3073 HEXA hexosaminidase A (alpha polypeptide) umls:C1848913 Tay-Sachs Disease, Juvenile 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 79365 BHLHE41 basic helix-loop-helix family, member e41 umls:C0751509 Short-sleeper 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 9562 MINPP1 multiple inositol-polyphosphate phosphatase 1 umls:C0206682 Adenocarcinoma, Follicular 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 8547 FCN3 ficolin (collagen/fibrinogen domain containing) 3 umls:C3151226 IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 27030 MLH3 mutL homolog 3 umls:C0699790 Colon Carcinoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 27030 MLH3 mutL homolog 3 umls:C0476089 Endometrial Carcinoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 25788 RAD54B RAD54 homolog B (S. cerevisiae) umls:C0699790 Colon Carcinoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C1868433 Normokalemic Periodic Paralysis, Potassium-Sensitive 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 701 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B umls:C0699790 Colon Carcinoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 51422 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4053 LTBP2 latent transforming growth factor beta binding protein 2 umls:C1562061 Microspherophakia 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 1545 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 umls:C0009363 Coloboma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 5728 PTEN phosphatase and tensin homolog umls:C2749240 Vater Association With Macrocephaly And Ventriculomegaly 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 5376 PMP22 peripheral myelin protein 22 umls:C1861669 Charcot-Marie-Tooth disease and deafness 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 2296 FOXC1 forkhead box C1 umls:C1839928 Iris hypoplasia and glaucoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 2690 GHR growth hormone receptor umls:C0020445 Hyperlipoproteinemia Type II 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 3909 LAMA3 laminin, alpha 3 umls:C0079683 Epidermolysis bullosa letalis 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 1181 CLCN2 chloride channel, voltage-sensitive 2 umls:C0393697 Epilepsy with grand mal seizures on awakening 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 5830 PEX5 peroxisomal biogenesis factor 5 umls:C0282525 Neonatal adrenoleukodystrophy 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 585 BBS4 Bardet-Biedl syndrome 4 umls:C2936864 Bardet-Biedl syndrome 4 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 360 AQP3 aquaporin 3 (Gill blood group) umls:C1843889 GIL BLOOD GROUP 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 581 BAX BCL2-associated X protein umls:C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4601 MXI1 MAX interactor 1, dimerization protein umls:C0206729 Neurofibrosarcoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4578 TRNW tRNA umls:C0023264 Leigh Disease 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4558 TRNF tRNA umls:C0162672 MERRF Syndrome 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 4569 TRNM tRNA umls:C0162670 Mitochondrial Myopathies 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4572 TRNQ tRNA umls:C0162671 MELAS Syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4556 TRNE tRNA umls:C0342289 Noninsulin-dependent diabetes mellitus with deafness 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4549 RNR1 s-rRNA umls:C1838854 Deafness, Aminoglycoside-Induced 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4512 COX1 cytochrome c oxidase subunit I umls:C1838877 Myoglobinuria, Recurrent 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C0038644 Sudden Infant Death 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 57502 NLGN4X neuroligin 4, X-linked umls:C1136249 Mental Retardation, X-Linked 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 2316 FLNA filamin A, alpha umls:C2748918 Otopalatodigital Spectrum Disorder 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 7372 UMPS uridine monophosphate synthetase umls:C0268128 Orotic aciduria 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 3426 CFI complement factor I umls:C0001733 Afibrinogenemia 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 6928 HNF1B HNF1 homeobox B umls:C1266042 Chromophobe Renal Cell Carcinoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 477 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide umls:C1865323 Migraine, Familial Basilar 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 5428 POLG polymerase (DNA directed), gamma umls:C0007959 Charcot-Marie-Tooth Disease 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 249 ALPL alkaline phosphatase, liver/bone/kidney umls:C1840322 Odontohypophosphatasia 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4163 MCC mutated in colorectal cancers umls:C0699790 Colon Carcinoma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 3856 KRT8 keratin 8, type II umls:C0267809 Cirrhosis, Cryptogenic 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 3239 HOXD13 homeobox D13 umls:C1735591 VACTERL association 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0175699 Saethre-Chotzen Syndrome 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 1278 COL1A2 collagen, type I, alpha 2 umls:C0029458 Osteoporosis, Postmenopausal 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 1280 COL2A1 collagen, type II, alpha 1 umls:C1836081 Rhegmatogenous Retinal Detachment, Autosomal Dominant 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C1852297 Darier Disease, Segmental 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 644 BLVRA biliverdin reductase A umls:C3279964 HYPERBILIVERDINEMIA 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 8314 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) umls:C3280492 TUMOR PREDISPOSITION SYNDROME 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 10599 SLCO1B1 solute carrier organic anion transporter family, member 1B1 umls:C0220991 Rotor syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 10019 SH2B3 SH2B adaptor protein 3 umls:C0040028 Thrombocythemia, Essential 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 132158 GLYCTK glycerate kinase umls:C1291386 D-glycericacidemia 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 55532 SLC30A10 solute carrier family 30, member 10 umls:C2750442 Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 79644 SRD5A3 steroid 5 alpha-reductase 3 umls:C2675185 Kahrizi Syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 54499 TMCO1 transmembrane and coiled-coil domains 1 umls:C1859252 Cerebrofaciothoracic Dysplasia 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 10528 NOP56 NOP56 ribonucleoprotein umls:C3472711 SPINOCEREBELLAR ATAXIA 36 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 26873 OPLAH 5-oxoprolinase (ATP-hydrolysing) umls:C0268525 5-oxoprolinase deficiency 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 65062 TMEM237 transmembrane protein 237 umls:C0431399 Agenesis of Cerebellar Vermis 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 55033 FKBP14 FK506 binding protein 14, 22 kDa umls:C3281160 EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 2984 GUCY2C guanylate cyclase 2C umls:C0270246 Meconium plug syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 88 ACTN2 actinin, alpha 2 umls:C0878544 Cardiomyopathies 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 7840 ALMS1 Alstrom syndrome 1 umls:C0878544 Cardiomyopathies 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 79188 TMEM43 transmembrane protein 43 umls:C0878544 Cardiomyopathies 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 26123 TCTN3 tectonic family member 3 umls:C0406727 Orofaciodigital syndrome 4 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 1392 CRH corticotropin releasing hormone umls:C0342388 Adrenocorticotropic hormone deficiency 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 26277 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 umls:C0002874 Anemia, Aplastic 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 55065 SLC52A1 solute carrier family 52 (riboflavin transporter), member 1 umls:C0035528 Riboflavin Deficiency 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 776 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit umls:C3554018 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 860 RUNX2 runt-related transcription factor 2 umls:C1834969 Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 5426 POLE polymerase (DNA directed), epsilon, catalytic subunit umls:C3554576 FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0546264 Congenital Fiber-Type Disproportion 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 2956 MSH6 mutS homolog 6 umls:C0027672 Neoplastic Syndromes, Hereditary 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 867 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase umls:C0028326 Noonan Syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 50945 TBX22 T-box 22 umls:C1844862 Abruzzo Erickson syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C1840365 King Denborough syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4854 NOTCH3 notch 3 umls:C0432284 Fibromatosis, Congenital Generalized 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 23317 DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 umls:C0030567 Parkinson Disease 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 112609 MRAP2 melanocortin 2 receptor accessory protein 2 umls:C0028754 Obesity 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 1828 DSG1 desmoglein 1 umls:C3809719 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE 0.200283504570094 1 AlteredExpression, GeneticVariation BeFree, CLINVAR 51256 TBC1D7 TBC1 domain family, member 7 umls:C0221355 Megalencephaly 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 9897 KIAA0196 KIAA0196 umls:C0796137 3C syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 1292 COL6A2 collagen, type VI, alpha 2 umls:C0699743 Congenital muscular dystrophy 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 92935 MARS2 methionyl-tRNA synthetase 2, mitochondrial umls:C1969645 Ataxia, Spastic, 3, Autosomal Recessive 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 8260 NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit umls:C0796016 Microphthalmia, syndromic 1 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 10413 YAP1 Yes-associated protein 1 umls:C0009363 Coloboma 0.200283504570094 1 GeneticVariation BeFree, CLINVAR 26610 ELP4 elongator acetyltransferase complex subunit 4 umls:C0003076 Aniridia 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 100131801 PET100 PET100 homolog (S. cerevisiae) umls:C0268237 Cytochrome-c Oxidase Deficiency 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 57545 CC2D2A coiled-coil and C2 domain containing 2A umls:C0265215 Meckel-Gruber syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 92482 BBIP1 BBSome interacting protein 1 umls:C0752166 Bardet-Biedl Syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4053 LTBP2 latent transforming growth factor beta binding protein 2 umls:C0024796 Marfan Syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4053 LTBP2 latent transforming growth factor beta binding protein 2 umls:C0020302 Hydrophthalmos 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 10312 TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 umls:C0340970 Congenital neutropenia 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 675 BRCA2 breast cancer 2, early onset umls:C0342573 Pituitary dwarfism 1 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 7518 XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 umls:C0342573 Pituitary dwarfism 1 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 9419 CRIPT cysteine-rich PDZ-binding protein umls:C0342573 Pituitary dwarfism 1 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 1282 COL4A1 collagen, type IV, alpha 1 umls:C0266484 Schizencephaly 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 2271 FH fumarate hydratase umls:C0027672 Neoplastic Syndromes, Hereditary 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 201163 FLCN folliculin umls:C0027672 Neoplastic Syndromes, Hereditary 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 24148 PRPF6 pre-mRNA processing factor 6 umls:C0035334 Retinitis Pigmentosa 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 50939 IMPG2 interphotoreceptor matrix proteoglycan 2 umls:C0035334 Retinitis Pigmentosa 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 94137 RP1L1 retinitis pigmentosa 1-like 1 umls:C0035334 Retinitis Pigmentosa 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 6297 SALL2 spalt-like transcription factor 2 umls:C0009363 Coloboma 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 84334 APOPT1 apoptogenic 1, mitochondrial umls:C0268237 Cytochrome-c Oxidase Deficiency 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 1892 ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial umls:C0023264 Leigh Disease 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 2956 MSH6 mutS homolog 6 umls:C2936783 Colorectal cancer, hereditary nonpolyposis, type 1 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 4851 NOTCH1 notch 1 umls:C0265268 Adams Oliver syndrome 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 3679 ITGA7 integrin, alpha 7 umls:C0699743 Congenital muscular dystrophy 0.200283504570094 1 Biomarker, GeneticVariation BeFree, CLINVAR 55572 FOXRED1 FAD-dependent oxidoreductase domain containing 1 umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 51057 WDPCP WD repeat containing planar cell polarity effector umls:C3150127 BARDET-BIEDL SYNDROME 15 0.2 0 GeneticVariation CLINVAR 10806 SDCCAG8 serologically defined colon cancer antigen 8 umls:C3150877 SENIOR-LOKEN SYNDROME 7 0.2 0 GeneticVariation CLINVAR 63894 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog umls:C3150672 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 0.2 0 GeneticVariation CLINVAR 51204 TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I umls:C1850599 Leigh Syndrome due to Mitochondrial Complex IV Deficiency 0.2 0 GeneticVariation CLINVAR 347733 TUBB2B tubulin, beta 2B class IIb umls:C2750247 Polymicrogyria, Asymmetric 0.2 0 GeneticVariation CLINVAR 1371 CPOX coproporphyrinogen oxidase umls:C0342856 Coproporphyria 0.2 0 GeneticVariation CLINVAR 137682 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 3827 KNG1 kininogen 1 umls:C1856719 Kininogen Deficiency, Total 0.2 0 GeneticVariation CLINVAR 5053 PAH phenylalanine hydroxylase umls:C2678416 Hyperphenylalaninemia, Non-Pku Mild 0.2 0 GeneticVariation CLINVAR 2153 F5 coagulation factor V (proaccelerin, labile factor) umls:C1414509 COAGULATION FACTOR V 0.2 0 GeneticVariation CLINVAR 219931 TPCN2 two pore segment channel 2 umls:C2677088 Skin/Hair/Eye Pigmentation, Variation In, 10 0.2 0 GeneticVariation CLINVAR 27249 MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria umls:C1848553 Homocystinuria, CblD Type, Variant 1 0.2 0 GeneticVariation CLINVAR 27249 MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria umls:C1848554 Methylmalonic Aciduria, CblD Type, Variant 2 0.2 0 GeneticVariation CLINVAR 324 APC adenomatous polyposis coli umls:C2673218 BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder) 0.2 0 GeneticVariation CLINVAR 324 APC adenomatous polyposis coli umls:C2675440 Desmoid Tumor Caused By Somatic Mutation 0.2 0 GeneticVariation CLINVAR 259197 NCR3 natural cytotoxicity triggering receptor 3 umls:C1836721 MALARIA, MILD, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 4948 OCA2 oculocutaneous albinism II umls:C1856895 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 0.2 0 GeneticVariation CLINVAR 387715 ARMS2 age-related maculopathy susceptibility 2 umls:C3151070 MACULAR DEGENERATION, AGE-RELATED, 8 0.2 0 GeneticVariation CLINVAR 57623 ZFAT zinc finger and AT hook domain containing umls:C1842444 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 0.2 0 GeneticVariation CLINVAR 178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase umls:C1968741 Glycogen Storage Disease IIIC 0.2 0 GeneticVariation CLINVAR 166379 BBS12 Bardet-Biedl syndrome 12 umls:C1859570 Bardet-Biedl Syndrome 12 0.2 0 GeneticVariation CLINVAR 79738 BBS10 Bardet-Biedl syndrome 10 umls:C1859568 Bardet-Biedl Syndrome 10 0.2 0 GeneticVariation CLINVAR 80184 CEP290 centrosomal protein 290kDa umls:C2673874 Bardet-Biedl Syndrome 14 0.2 0 GeneticVariation CLINVAR 81839 VANGL1 VANGL planar cell polarity protein 1 umls:C0300948 Caudal Regression Syndrome 0.2 0 GeneticVariation CLINVAR 54507 ADAMTSL4 ADAMTS-like 4 umls:C2673634 Ectopia Lentis, Isolated, Autosomal Recessive 0.2 0 GeneticVariation CLINVAR 54903 MKS1 Meckel syndrome, type 1 umls:C2673873 Bardet-Biedl Syndrome 13 0.2 0 GeneticVariation CLINVAR 123041 SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 umls:C2673866 Skin/Hair/Eye Pigmentation, Variation In, 6 0.2 0 GeneticVariation CLINVAR 3145 HMBS hydroxymethylbilane synthase umls:C1867969 Porphyria, Acute Intermittent, Nonerythroid Variant 0.2 0 GeneticVariation CLINVAR 283652 SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 umls:C2676042 Skin/Hair/Eye Pigmentation, Variation In, 4 0.2 0 GeneticVariation CLINVAR 199713 NLRP7 NLR family, pyrin domain containing 7 umls:C2931618 Gestational Trophoblastic Disease 0.2 0 GeneticVariation CLINVAR 91942 NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 57697 FANCM Fanconi anemia, complementation group M umls:C1708000 FANCM GENE 0.2 0 GeneticVariation CLINVAR 284654 RSPO1 R-spondin 1 umls:C2674504 Palmoplantar Hyperkeratosis And True Hermaphroditism 0.2 0 GeneticVariation CLINVAR 1586 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 umls:C0025202 Melanoma 0.2 0 GeneticVariation CLINVAR 10161 LPAR6 lysophosphatidic acid receptor 6 umls:C1848435 WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS 0.2 0 GeneticVariation CLINVAR 4594 MUT methylmalonyl CoA mutase umls:C1855115 Methylmalonic Aciduria, mut(0) Type 0.2 0 GeneticVariation CLINVAR 4594 MUT methylmalonyl CoA mutase umls:C1855116 Methylmalonic Aciduria, mut(-) Type 0.2 0 GeneticVariation CLINVAR 114625 ERMAP erythroblast membrane-associated protein (Scianna blood group) umls:C1862204 RADIN BLOOD GROUP ANTIGEN 0.2 0 GeneticVariation CLINVAR 114625 ERMAP erythroblast membrane-associated protein (Scianna blood group) umls:C0443842 Antigen in Scianna blood group system 0.2 0 GeneticVariation CLINVAR 100 ADA adenosine deaminase umls:C1863237 SCID Due to ADA Deficiency, Delayed Onset 0.2 0 GeneticVariation CLINVAR 91647 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 umls:C2700431 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE 0.2 0 GeneticVariation CLINVAR 55636 CHD7 chromodomain helicase DNA binding protein 7 umls:C2675302 Kallmann Syndrome 5 0.2 0 GeneticVariation CLINVAR 84100 ARL6 ADP-ribosylation factor-like 6 umls:C1859564 Bardet-Biedl syndrome 3 0.2 0 GeneticVariation CLINVAR 255239 ANKK1 ankyrin repeat and kinase domain containing 1 umls:C1837439 DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF 0.2 0 GeneticVariation CLINVAR 285195 SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 umls:C3150677 AUTISM, SUSCEPTIBILITY TO, 16 0.2 0 GeneticVariation CLINVAR 56262 LRRC8A leucine rich repeat containing 8 family, member A umls:C3150753 AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT 0.2 0 GeneticVariation CLINVAR 593 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide umls:C1855369 Maple Syrup Urine Disease, Type IA 0.2 0 GeneticVariation CLINVAR 81622 UNC93B1 unc-93 homolog B1 (C. elegans) umls:C2750180 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 0.2 0 GeneticVariation CLINVAR 23314 SATB2 SATB homeobox 2 umls:C2676739 Chromosome 2q32-Q33 Deletion Syndrome 0.2 0 GeneticVariation CLINVAR 123016 TTC8 tetratricopeptide repeat domain 8 umls:C1859566 Bardet-Biedl Syndrome 8 0.2 0 GeneticVariation CLINVAR 55120 FANCL Fanconi anemia, complementation group L umls:C1427106 FANCL GENE 0.2 0 GeneticVariation CLINVAR 23022 PALLD palladin, cytoskeletal associated protein umls:C1847351 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 0.2 0 GeneticVariation CLINVAR 378884 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 umls:C1850764 Epilepsy, Progressive Myoclonic 2B 0.2 0 GeneticVariation CLINVAR 27241 BBS9 Bardet-Biedl syndrome 9 umls:C1859567 Bardet-Biedl Syndrome 9 0.2 0 GeneticVariation CLINVAR 53947 A4GALT alpha 1,4-galactosyltransferase umls:C0599990 Blood group antigen p 0.2 0 GeneticVariation CLINVAR 8912 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit umls:C2677793 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 0.2 0 GeneticVariation CLINVAR 147409 DSG4 desmoglein 4 umls:C1842839 Hypotrichosis, Localized, Autosomal Recessive 1 0.2 0 GeneticVariation CLINVAR 7439 BEST1 bestrophin 1 umls:C2674009 Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 0.2 0 GeneticVariation CLINVAR 2632 GBE1 glucan (1,4-alpha-), branching enzyme 1 umls:C1856304 GSD IV, Neuromuscular Form, Congenital 0.2 0 GeneticVariation CLINVAR 81846 SBF2 SET binding factor 2 umls:C1858280 Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma 0.2 0 GeneticVariation CLINVAR 25794 FSCN2 fascin actin-bundling protein 2, retinal umls:C0339527 Leber Congenital Amaurosis 0.2 0 GeneticVariation CLINVAR 6609 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal umls:C2675646 Niemann-Pick Disease, Intermediate, Protracted Neurovisceral 0.2 0 GeneticVariation CLINVAR 3857 KRT9 keratin 9, type I umls:C1840427 Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads 0.2 0 GeneticVariation CLINVAR 55212 BBS7 Bardet-Biedl syndrome 7 umls:C1859565 Bardet-Biedl Syndrome 7 0.2 0 GeneticVariation CLINVAR 472 ATM ATM serine/threonine kinase umls:C1859616 AT, COMPLEMENTATION GROUP E 0.2 0 GeneticVariation CLINVAR 472 ATM ATM serine/threonine kinase umls:C1876175 Ataxia-Telangiectasia Variant 0.2 0 GeneticVariation CLINVAR 472 ATM ATM serine/threonine kinase umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 200879 LIPH lipase, member H umls:C3148823 WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS 0.2 0 GeneticVariation CLINVAR 326 AIRE autoimmune regulator umls:C1855869 Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant 0.2 0 GeneticVariation CLINVAR 326 AIRE autoimmune regulator umls:C2749602 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA 0.2 0 GeneticVariation CLINVAR 3663 IRF5 interferon regulatory factor 5 umls:C2677097 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 0.2 0 GeneticVariation CLINVAR 59344 ALOXE3 arachidonate lipoxygenase 3 umls:C1847849 Ichthyosis, Lamellar, 5 0.2 0 GeneticVariation CLINVAR 78987 CRELD1 cysteine-rich with EGF-like domains 1 umls:C1853508 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 0.2 0 GeneticVariation CLINVAR 128674 PROKR2 prokineticin receptor 2 umls:C2930927 Kallmann syndrome, type 3, recessive 0.2 0 GeneticVariation CLINVAR 5080 PAX6 paired box 6 umls:C1833798 Optic Nerve Aplasia, Bilateral 0.2 0 GeneticVariation CLINVAR 4524 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) umls:C0238198 Gastrointestinal Stromal Tumors 0.2 0 GeneticVariation CLINVAR 85320 ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 umls:C1861696 APOCRINE GLAND SECRETION, VARIATION IN 0.2 0 GeneticVariation CLINVAR 60675 PROK2 prokineticin 2 umls:C1857720 Kallmann Syndrome 4 0.2 0 GeneticVariation CLINVAR 7299 TYR tyrosinase umls:C1847132 Albinism, Oculocutaneous, Type I, Temperature-Sensitive 0.2 0 GeneticVariation CLINVAR 3074 HEXB hexosaminidase B (beta polypeptide) umls:C1849321 Sandhoff Disease, Juvenile Type 0.2 0 GeneticVariation CLINVAR 3074 HEXB hexosaminidase B (beta polypeptide) umls:C1849320 Sandhoff Disease, Adult Type 0.2 0 GeneticVariation CLINVAR 3074 HEXB hexosaminidase B (beta polypeptide) umls:C1849322 Sandhoff Disease, Infantile Type 0.2 0 GeneticVariation CLINVAR 3073 HEXA hexosaminidase A (alpha polypeptide) umls:C1848916 Tay-Sachs Disease, Variant B1 0.2 0 GeneticVariation CLINVAR 710 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 umls:C1862892 Hereditary Angioedema Type II 0.2 0 GeneticVariation CLINVAR 9821 RB1CC1 RB1-inducible coiled-coil 1 umls:C0858252 Breast Adenocarcinoma 0.2 0 GeneticVariation CLINVAR 2548 GAA glucosidase, alpha; acid umls:C0751173 Glycogen Storage Disease Type II, Infantile 0.2 0 GeneticVariation CLINVAR 5077 PAX3 paired box 3 umls:C0342680 Klein-Waardenberg's syndrome 0.2 0 GeneticVariation CLINVAR 117156 SCGB3A2 secretoglobin, family 3A, member 2 umls:C1869116 ASTHMA, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 55651 NHP2 NHP2 ribonucleoprotein umls:C1857144 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 0.2 0 GeneticVariation CLINVAR 7809 BSND barttin CLCNK-type chloride channel accessory beta subunit umls:C2748440 Sensorineural Deafness With Mild Renal Dysfunction 0.2 0 GeneticVariation CLINVAR 83715 ESPN espin umls:C3502293 Deafness, Autosomal Recessive 36, Without Vestibular Involvement 0.2 0 GeneticVariation CLINVAR 1497 CTNS cystinosin, lysosomal cystine transporter umls:C2749685 CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) 0.2 0 GeneticVariation CLINVAR 115650 TNFRSF13C tumor necrosis factor receptor superfamily, member 13C umls:C3150739 IMMUNODEFICIENCY, COMMON VARIABLE, 4 0.2 0 GeneticVariation CLINVAR 64581 CLEC7A C-type lectin domain family 7, member A umls:C0341024 Familial chronic mucocutaneous candidiasis 0.2 0 GeneticVariation CLINVAR 114609 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein umls:C1969665 MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST 0.2 0 GeneticVariation CLINVAR 51151 SLC45A2 solute carrier family 45, member 2 umls:C2673584 Skin/Hair/Eye Pigmentation, Variation In, 5 0.2 0 GeneticVariation CLINVAR 583 BBS2 Bardet-Biedl syndrome 2 umls:C2936863 Bardet-Biedl syndrome 2 0.2 0 GeneticVariation CLINVAR 9126 SMC3 structural maintenance of chromosomes 3 umls:C1853099 CORNELIA DE LANGE SYNDROME 3 0.2 0 GeneticVariation CLINVAR 56244 BTNL2 butyrophilin-like 2 (MHC class II associated) umls:C2676468 SARCOIDOSIS, SUSCEPTIBILITY TO, 2 0.2 0 GeneticVariation CLINVAR 23095 KIF1B kinesin family member 1B umls:C2749485 NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (disorder) 0.2 0 GeneticVariation CLINVAR 64421 DCLRE1C DNA cross-link repair 1C umls:C1865373 SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL 0.2 0 GeneticVariation CLINVAR 11155 LDB3 LIM domain binding 3 umls:C1853863 Cardiomyopathy, Dilated, with Left Ventricular Noncompaction 0.2 0 GeneticVariation CLINVAR 83990 BRIP1 BRCA1 interacting protein C-terminal helicase 1 umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 8924 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 umls:C1856895 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 0.2 0 GeneticVariation CLINVAR 5172 SLC26A4 solute carrier family 26 (anion exchanger), member 4 umls:C0236038 Congenital hearing disorder 0.2 0 GeneticVariation CLINVAR 64327 LMBR1 limb development membrane protein 1 umls:C1861099 Absence of tibia with polydactyly 0.2 0 GeneticVariation CLINVAR 50615 IL21R interleukin 21 receptor umls:C0236175 elevated ige 0.2 0 GeneticVariation CLINVAR 4166 CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 umls:C1691013 Macular Corneal Dystrophy, Type II 0.2 0 GeneticVariation CLINVAR 50617 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 umls:C1864499 Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss 0.2 0 GeneticVariation CLINVAR 3176 HNMT histamine N-methyltransferase umls:C1869116 ASTHMA, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 55997 CFC1 cripto, FRL-1, cryptic family 1 umls:C3151220 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2 0.2 0 GeneticVariation CLINVAR 10653 SPINT2 serine peptidase inhibitor, Kunitz type, 2 umls:C2678346 Diarrhea 3, Secretory Sodium, Congenital, Syndromic 0.2 0 GeneticVariation CLINVAR 1540 CYLD cylindromatosis (turban tumor syndrome) umls:C1851526 Eccrine dermal cylindroma 0.2 0 GeneticVariation CLINVAR 11005 SPINK5 serine peptidase inhibitor, Kazal type 5 umls:C1840254 ATOPY, SUSCEPTIBILITY TO (finding) 0.2 0 GeneticVariation CLINVAR 8195 MKKS McKusick-Kaufman syndrome umls:C1858054 Bardet-Biedl Syndrome 6 0.2 0 GeneticVariation CLINVAR 30009 TBX21 T-box 21 umls:C1858067 Asthma and Nasal Polyps 0.2 0 GeneticVariation CLINVAR 9227 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) umls:C2750064 Retinal Dystrophy, Early-Onset Severe, Lrat-Related 0.2 0 GeneticVariation CLINVAR 9365 KL klotho umls:C1840169 CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 50484 RRM2B ribonucleotide reductase M2 B (TP53 inducible) umls:C3150172 MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) 0.2 0 GeneticVariation CLINVAR 8997 KALRN kalirin, RhoGEF kinase umls:C1837173 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 0.2 0 GeneticVariation CLINVAR 2213 FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) umls:C2720293 MALARIA, RESISTANCE TO 0.2 0 GeneticVariation CLINVAR 5157 PDGFRL platelet-derived growth factor receptor-like umls:C0699790 Colon Carcinoma 0.2 0 GeneticVariation CLINVAR 10516 FBLN5 fibulin 5 umls:C3280794 CUTIS LAXA, AUTOSOMAL DOMINANT 2 0.2 0 GeneticVariation CLINVAR 26047 CNTNAP2 contactin associated protein-like 2 umls:C2677504 AUTISM, SUSCEPTIBILITY TO, 15 0.2 0 GeneticVariation CLINVAR 26047 CNTNAP2 contactin associated protein-like 2 umls:C2750246 Pitt-Hopkins-Like Syndrome 1 0.2 0 GeneticVariation CLINVAR 10804 GJB6 gap junction protein, beta 6, 30kDa umls:C2673760 DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) 0.2 0 GeneticVariation CLINVAR 23746 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 umls:C2751763 Retinitis Pigmentosa, Juvenile, Aipl1-Related 0.2 0 GeneticVariation CLINVAR 11200 CHEK2 checkpoint kinase 2 umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 25788 RAD54B RAD54 homolog B (S. cerevisiae) umls:C0024305 Lymphoma, Non-Hodgkin 0.2 0 GeneticVariation CLINVAR 889 KRIT1 KRIT1, ankyrin repeat containing umls:C1861786 Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations 0.2 0 GeneticVariation CLINVAR 889 KRIT1 KRIT1, ankyrin repeat containing umls:C1861785 Cavernous Malformations of CNS and Retina 0.2 0 GeneticVariation CLINVAR 11093 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 umls:C0025202 Melanoma 0.2 0 GeneticVariation CLINVAR 5932 RBBP8 retinoblastoma binding protein 8 umls:C0235974 Pancreatic Carcinoma 0.2 0 GeneticVariation CLINVAR 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C0752355 Myotonia Fluctuans (disorder) 0.2 0 GeneticVariation CLINVAR 6329 SCN4A sodium channel, voltage gated, type IV alpha subunit umls:C1850599 Leigh Syndrome due to Mitochondrial Complex IV Deficiency 0.2 0 GeneticVariation CLINVAR 3026 HABP2 hyaluronan binding protein 2 umls:C1858964 CAROTID STENOSIS, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 8929 PHOX2B paired-like homeobox 2b umls:C2751682 NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 0.2 0 GeneticVariation CLINVAR 8929 PHOX2B paired-like homeobox 2b umls:C2751683 Hirschsprung disease ganglioneuroblastoma 0.2 0 GeneticVariation CLINVAR 4722 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 617 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like umls:C1850598 Leigh Syndrome due to Mitochondrial Complex III Deficiency 0.2 0 GeneticVariation CLINVAR 1355 COX15 cytochrome c oxidase assembly homolog 15 (yeast) umls:C1850599 Leigh Syndrome due to Mitochondrial Complex IV Deficiency 0.2 0 GeneticVariation CLINVAR 6125 RPL5 ribosomal protein L5 umls:C0265265 Aase syndrome 0.2 0 GeneticVariation CLINVAR 8438 RAD54L RAD54-like (S. cerevisiae) umls:C0338106 Adenocarcinoma of colon 0.2 0 GeneticVariation CLINVAR 8915 BCL10 B-cell CLL/lymphoma 10 umls:C0036920 Sezary Syndrome 0.2 0 GeneticVariation CLINVAR 4041 LRP5 low density lipoprotein receptor-related protein 5 umls:C1866080 HIGH BONE MASS 0.2 0 GeneticVariation CLINVAR 6335 SCN9A sodium channel, voltage gated, type IX alpha subunit umls:C3151229 FEBRILE SEIZURES, FAMILIAL, 3B 0.2 0 GeneticVariation CLINVAR 7253 TSHR thyroid stimulating hormone receptor umls:C1863960 Thyroid Adenoma, Hyperfunctioning 0.2 0 GeneticVariation CLINVAR 7253 TSHR thyroid stimulating hormone receptor umls:C1863961 Thyroid Carcinoma With Thyrotoxicosis 0.2 0 GeneticVariation CLINVAR 9409 PEX16 peroxisomal biogenesis factor 16 umls:C3553959 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) 0.2 0 GeneticVariation CLINVAR 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C1846647 Deafness, Autosomal Recessive 0.2 0 GeneticVariation CLINVAR 2707 GJB3 gap junction protein, beta 3, 31kDa umls:C2673761 DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 0.2 0 GeneticVariation CLINVAR 84920 ALG10 ALG10, alpha-1,2-glucosyltransferase umls:C3150943 Long Qt Syndrome 2 0.2 0 GeneticVariation CLINVAR 8626 TP63 tumor protein p63 umls:C1851878 Orofacial Cleft 8 0.2 0 GeneticVariation CLINVAR 8625 RFXANK regulatory factor X-associated ankyrin-containing protein umls:C1859535 Bare Lymphocyte Syndrome, Type II, Complementation Group B 0.2 0 GeneticVariation CLINVAR 5519 PPP2R1B protein phosphatase 2, regulatory subunit A, beta umls:C0684249 Carcinoma of lung 0.2 0 GeneticVariation CLINVAR 8706 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) umls:C0599990 Blood group antigen p 0.2 0 GeneticVariation CLINVAR 7100 TLR5 toll-like receptor 5 umls:C1837872 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 7097 TLR2 toll-like receptor 2 umls:C1968668 LEPROSY, SUSCEPTIBILITY TO, 3 0.2 0 GeneticVariation CLINVAR 10370 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 umls:C3280783 VENTRICULAR SEPTAL DEFECT 2 0.2 0 GeneticVariation CLINVAR 10370 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 umls:C3280790 ATRIAL SEPTAL DEFECT 8 0.2 0 GeneticVariation CLINVAR 4092 SMAD7 SMAD family member 7 umls:C2677123 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 0.2 0 GeneticVariation CLINVAR 5192 PEX10 peroxisomal biogenesis factor 10 umls:C3553947 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 0.2 0 GeneticVariation CLINVAR 5889 RAD51C RAD51 paralog C umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 2033 EP300 E1A binding protein p300 umls:C3150941 RUBINSTEIN-TAYBI SYNDROME 2 0.2 0 GeneticVariation CLINVAR 4724 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C1868633 Paragangliomas with Sensorineural Hearing Loss 0.2 0 GeneticVariation CLINVAR 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndrome 0.2 0 GeneticVariation CLINVAR 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C3554516 COWDEN SYNDROME 3 0.2 0 GeneticVariation CLINVAR 5002 SLC22A18 solute carrier family 22, member 18 umls:C0858252 Breast Adenocarcinoma 0.2 0 GeneticVariation CLINVAR 2304 FOXE1 forkhead box E1 umls:C1968699 Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate 0.2 0 GeneticVariation CLINVAR 7804 LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor umls:C1838021 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 (finding) 0.2 0 GeneticVariation CLINVAR 4552 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase umls:C0238198 Gastrointestinal Stromal Tumors 0.2 0 GeneticVariation CLINVAR 10133 OPTN optineurin umls:C1842026 Glaucoma 1, Open Angle, E 0.2 0 GeneticVariation CLINVAR 2303 FOXC2 forkhead box C2 umls:C2675066 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 0.2 0 GeneticVariation CLINVAR 3455 IFNAR2 interferon (alpha, beta and omega) receptor 2 umls:C1864880 HEPATITIS B VIRUS, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 7012 TERC telomerase RNA component umls:C3553622 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 0.2 0 GeneticVariation CLINVAR 3785 KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 umls:C1852587 Epilepsy, Benign Neonatal, 1 0.2 0 GeneticVariation CLINVAR 6299 SALL1 spalt-like transcription factor 1 umls:C1862683 Townes-Brocks-Branchiootorenal-Like Syndrome 0.2 0 GeneticVariation CLINVAR 6794 STK11 serine/threonine kinase 11 umls:C1835047 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 0.2 0 GeneticVariation CLINVAR 4728 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 4695 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 5189 PEX1 peroxisomal biogenesis factor 1 umls:C0339527 Leber Congenital Amaurosis 0.2 0 GeneticVariation CLINVAR 4650 MYO9B myosin IXB umls:C1857847 CELIAC DISEASE, SUSCEPTIBILITY TO, 4 0.2 0 GeneticVariation CLINVAR 1352 COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor umls:C1850599 Leigh Syndrome due to Mitochondrial Complex IV Deficiency 0.2 0 GeneticVariation CLINVAR 5264 PHYH phytanoyl-CoA 2-hydroxylase umls:C2749345 Refsum Disease, Adult, 1 0.2 0 GeneticVariation CLINVAR 1188 CLCNKB chloride channel, voltage-sensitive Kb umls:C2751312 Bartter Syndrome, Type 4b 0.2 0 GeneticVariation CLINVAR 1188 CLCNKB chloride channel, voltage-sensitive Kb umls:C1846344 Bartter Syndrome, Type 3, with Hypocalciuria 0.2 0 GeneticVariation CLINVAR 182 JAG1 jagged 1 umls:C1866053 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 0.2 0 GeneticVariation CLINVAR 7044 LEFTY2 left-right determination factor 2 umls:C1866091 Left-Right Axis Malformations 0.2 0 GeneticVariation CLINVAR 5993 RFX5 regulatory factor X, 5 (influences HLA class II expression) umls:C1859536 Bare Lymphocyte Syndrome, Type II, Complementation Group C 0.2 0 GeneticVariation CLINVAR 5993 RFX5 regulatory factor X, 5 (influences HLA class II expression) umls:C1859538 Bare Lymphocyte Syndrome, Type II, Complementation Group E 0.2 0 GeneticVariation CLINVAR 5994 RFXAP regulatory factor X-associated protein umls:C1859537 Bare Lymphocyte Syndrome, Type II, Complementation Group D 0.2 0 GeneticVariation CLINVAR 374291 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 8820 HESX1 HESX homeobox 1 umls:C2750027 Growth Hormone Deficiency With Pituitary Anomalies 0.2 0 GeneticVariation CLINVAR 5195 PEX14 peroxisomal biogenesis factor 14 umls:C3554004 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 0.2 0 GeneticVariation CLINVAR 5194 PEX13 peroxisomal biogenesis factor 13 umls:C3554000 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 0.2 0 GeneticVariation CLINVAR 5728 PTEN phosphatase and tensin homolog umls:C1866376 Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 0.2 0 GeneticVariation CLINVAR 24 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 umls:C1858080 Retinal Dystrophy, Early Onset Severe 0.2 0 GeneticVariation CLINVAR 7291 TWIST1 twist family bHLH transcription factor 1 umls:C1867146 Robinow Sorauf syndrome 0.2 0 GeneticVariation CLINVAR 6598 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 umls:C2750405 Malignant Rhabdoid Tumor, Somatic 0.2 0 GeneticVariation CLINVAR 5913 RAPSN receptor-associated protein of the synapse umls:C1837092 Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 0.2 0 GeneticVariation CLINVAR 5190 PEX6 peroxisomal biogenesis factor 6 umls:C3553937 PEROXISOME BIOGENESIS DISORDER 4B 0.2 0 GeneticVariation CLINVAR 11330 CTRC chymotrypsin C (caldecrin) umls:C1969419 PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 1234 CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) umls:C1836230 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 94 ACVRL1 activin A receptor type II-like 1 umls:C1832529 Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 0.2 0 GeneticVariation CLINVAR 729230 CCR2 chemokine (C-C motif) receptor 2 umls:C1836230 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 4838 NODAL nodal growth differentiation factor umls:C0037221 Situs Inversus 0.2 0 GeneticVariation CLINVAR 859 CAV3 caveolin 3 umls:C1832560 RIPPLING MUSCLE DISEASE 2 (disorder) 0.2 0 GeneticVariation CLINVAR 846 CASR calcium-sensing receptor umls:C1832611 Hypercalciuric Hypercalcemia 0.2 0 GeneticVariation CLINVAR 7096 TLR1 toll-like receptor 1 umls:C2750733 LEPROSY, SUSCEPTIBILITY TO, 5 0.2 0 GeneticVariation CLINVAR 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C1836230 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 6356 CCL11 chemokine (C-C motif) ligand 11 umls:C1869116 ASTHMA, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 1639 DCTN1 dynactin 1 umls:C0007959 Charcot-Marie-Tooth Disease 0.2 0 GeneticVariation CLINVAR 1558 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 umls:C1832733 Rhabdomyolysis, Cerivastatin-Induced 0.2 0 GeneticVariation CLINVAR 3953 LEPR leptin receptor umls:C3554225 LEPTIN RECEPTOR DEFICIENCY 0.2 0 GeneticVariation CLINVAR 4646 MYO6 myosin VI umls:C3501265 Deafness, Sensorineural, with Hypertrophic Cardiomyopathy 0.2 0 GeneticVariation CLINVAR 4607 MYBPC3 myosin binding protein C, cardiac umls:C2751427 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 5506 PPP1R3A protein phosphatase 1, regulatory subunit 3A umls:C1852091 INSULIN RESISTANCE, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 6389 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) umls:C1850597 Leigh Syndrome Due To Mitochondrial Complex II Deficiency 0.2 0 GeneticVariation CLINVAR 5023 P2RX1 purinergic receptor P2X, ligand gated ion channel, 1 umls:C1853278 Bleeding Disorder Due To P2RY12 Defect 0.2 0 GeneticVariation CLINVAR 2668 GDNF glial cell derived neurotrophic factor umls:C1859049 CCHS WITH HIRSCHSPRUNG DISEASE 0.2 0 GeneticVariation CLINVAR 2668 GDNF glial cell derived neurotrophic factor umls:C2931739 Hirschsprung disease type 3 0.2 0 GeneticVariation CLINVAR 6387 CXCL12 chemokine (C-X-C motif) ligand 12 umls:C1836230 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 5146 PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime umls:C2751309 Achromatopsia 5 0.2 0 GeneticVariation CLINVAR 4361 MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 659 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) umls:C1969343 Pulmonary Hypertension, Primary, Fenfluramine-Associated 0.2 0 GeneticVariation CLINVAR 6334 SCN8A sodium channel, voltage gated, type VIII alpha subunit umls:C3280415 COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 0.2 0 GeneticVariation CLINVAR 5818 PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) umls:C1833538 OROFACIAL CLEFT 7 0.2 0 GeneticVariation CLINVAR 10661 KLF1 Kruppel-like factor 1 (erythroid) umls:C1292231 In(Lu) phenotype 0.2 0 GeneticVariation CLINVAR 9378 NRXN1 neurexin 1 umls:C3280479 PITT-HOPKINS-LIKE SYNDROME 2 0.2 0 GeneticVariation CLINVAR 2253 FGF8 fibroblast growth factor 8 (androgen-induced) umls:C2675188 Kallmann Syndrome 6 0.2 0 GeneticVariation CLINVAR 2651 GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) umls:C1862229 Adult i Blood Group Phenotype 0.2 0 GeneticVariation CLINVAR 5830 PEX5 peroxisomal biogenesis factor 5 umls:C1859228 Cerebrohepatorenal Syndrome, Variant Types 0.2 0 GeneticVariation CLINVAR 5824 PEX19 peroxisomal biogenesis factor 19 umls:C3554002 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) 0.2 0 GeneticVariation CLINVAR 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C2936833 Mycobacterium tuberculosis, susceptibility to infection by 0.2 0 GeneticVariation CLINVAR 6556 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 umls:C1864868 BURULI ULCER, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 5395 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) umls:C1838333 Colorectal Cancer, Hereditary Nonpolyposis, Type 4 0.2 0 GeneticVariation CLINVAR 6324 SCN1B sodium channel, voltage gated, type I beta subunit umls:C2748542 Cardiac Conduction Defect, Nonspecific 0.2 0 GeneticVariation CLINVAR 860 RUNX2 runt-related transcription factor 2 umls:C1861516 Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly 0.2 0 GeneticVariation CLINVAR 434 ASIP agouti signaling protein umls:C2673200 Skin/Hair/Eye Pigmentation, Variation In, 9 0.2 0 GeneticVariation CLINVAR 3718 JAK3 Janus kinase 3 umls:C1833275 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 0.2 0 GeneticVariation CLINVAR 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1861983 Heart Block, Nonprogressive 0.2 0 GeneticVariation CLINVAR 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1861984 Cardiac Conduction Defect, Nonprogressive 0.2 0 GeneticVariation CLINVAR 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1838527 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding) 0.2 0 GeneticVariation CLINVAR 22800 RRAS2 related RAS viral (r-ras) oncogene homolog 2 umls:C0919267 Ovarian Neoplasms 0.2 0 GeneticVariation CLINVAR 1118 CHIT1 chitinase 1 (chitotriosidase) umls:C3279902 CHITOTRIOSIDASE DEFICIENCY 0.2 0 GeneticVariation CLINVAR 4261 CIITA class II, major histocompatibility complex, transactivator umls:C1859534 Bare Lymphocyte Syndrome, Type II, Complementation Group A 0.2 0 GeneticVariation CLINVAR 4577 TRNV tRNA umls:C0023264 Leigh Disease 0.2 0 GeneticVariation CLINVAR 4579 TRNY tRNA umls:C0022541 Kearns-Sayre Syndrome 0.2 0 GeneticVariation CLINVAR 4578 TRNW tRNA umls:C1852373 Mitochondrial encephalopathy 0.2 0 GeneticVariation CLINVAR 4578 TRNW tRNA umls:C0162670 Mitochondrial Myopathies 0.2 0 GeneticVariation CLINVAR 4575 TRNS2 tRNA umls:C0271097 Usher Syndromes 0.2 0 GeneticVariation CLINVAR 4574 TRNS1 tRNA umls:C3151897 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 0.2 0 GeneticVariation CLINVAR 4571 TRNP tRNA umls:C0026848 Muscular Diseases 0.2 0 GeneticVariation CLINVAR 4558 TRNF tRNA umls:C0162671 MELAS Syndrome 0.2 0 GeneticVariation CLINVAR 4566 TRNK tRNA umls:C1838867 Parkinson Disease, Mitochondrial 0.2 0 GeneticVariation CLINVAR 4566 TRNK tRNA umls:C0872218 Mitochondrial neurogastrointestinal encephalopathy syndrome 0.2 0 GeneticVariation CLINVAR 4566 TRNK tRNA umls:C0342289 Noninsulin-dependent diabetes mellitus with deafness 0.2 0 GeneticVariation CLINVAR 4568 TRNL2 tRNA umls:C0162666 Mitochondrial Encephalomyopathies 0.2 0 GeneticVariation CLINVAR 4568 TRNL2 tRNA umls:C0162670 Mitochondrial Myopathies 0.2 0 GeneticVariation CLINVAR 4567 TRNL1 tRNA umls:C0023264 Leigh Disease 0.2 0 GeneticVariation CLINVAR 4567 TRNL1 tRNA umls:C0038644 Sudden Infant Death 0.2 0 GeneticVariation CLINVAR 4567 TRNL1 tRNA umls:C0022541 Kearns-Sayre Syndrome 0.2 0 GeneticVariation CLINVAR 4567 TRNL1 tRNA umls:C0026986 Myelodysplastic Syndromes 0.2 0 GeneticVariation CLINVAR 4565 TRNI tRNA umls:C3151897 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 0.2 0 GeneticVariation CLINVAR 4565 TRNI tRNA umls:C0559758 Multisystem disorder 0.2 0 GeneticVariation CLINVAR 4565 TRNI tRNA umls:C1839021 Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 0.2 0 GeneticVariation CLINVAR 4563 TRNG tRNA umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.2 0 GeneticVariation CLINVAR 4563 TRNG tRNA umls:C0011071 Death, Sudden 0.2 0 GeneticVariation CLINVAR 4572 TRNQ tRNA umls:C0026848 Muscular Diseases 0.2 0 GeneticVariation CLINVAR 4556 TRNE tRNA umls:C3151898 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 0.2 0 GeneticVariation CLINVAR 4570 TRNN tRNA umls:C0268237 Cytochrome-c Oxidase Deficiency 0.2 0 GeneticVariation CLINVAR 4573 TRNR tRNA umls:C0162666 Mitochondrial Encephalomyopathies 0.2 0 GeneticVariation CLINVAR 4553 TRNA tRNA umls:C0162670 Mitochondrial Myopathies 0.2 0 GeneticVariation CLINVAR 4549 RNR1 s-rRNA umls:C3151897 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 0.2 0 GeneticVariation CLINVAR 4514 COX3 cytochrome c oxidase III umls:C0268237 Cytochrome-c Oxidase Deficiency 0.2 0 GeneticVariation CLINVAR 4519 CYTB cytochrome b umls:C0162666 Mitochondrial Encephalomyopathies 0.2 0 GeneticVariation CLINVAR 4536 ND2 MTND2 umls:C1838979 Mitochondrial complex I deficiency 0.2 0 GeneticVariation CLINVAR 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C0752197 Adult-Onset Dystonias 0.2 0 GeneticVariation CLINVAR 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C1838979 Mitochondrial complex I deficiency 0.2 0 GeneticVariation CLINVAR 7552 ZNF711 zinc finger protein 711 umls:C2749020 Mental Retardation, X-Linked, Znf711-Related 0.2 0 GeneticVariation CLINVAR 7503 XIST X inactive specific transcript (non-protein coding) umls:C1848138 X Inactivation, Familial Skewed, 1 0.2 0 GeneticVariation CLINVAR 6658 SOX3 SRY (sex determining region Y)-box 3 umls:C1848068 Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 0.2 0 GeneticVariation CLINVAR 6103 RPGR retinitis pigmentosa GTPase regulator umls:C3151784 MACULAR DEGENERATION, X-LINKED ATROPHIC 0.2 0 GeneticVariation CLINVAR 4128 MAOA monoamine oxidase A umls:C1839704 ANTISOCIAL BEHAVIOR FOLLOWING CHILDHOOD MALTREATMENT, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 3897 L1CAM L1 cell adhesion molecule umls:C1844006 Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction 0.2 0 GeneticVariation CLINVAR 2623 GATA1 GATA binding protein 1 (globin transcription factor 1) umls:C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 0.2 0 GeneticVariation CLINVAR 2623 GATA1 GATA binding protein 1 (globin transcription factor 1) umls:C3151785 Anemia, X-Linked, without Thrombocytopenia 0.2 0 GeneticVariation CLINVAR 5956 OPN1LW opsin 1 (cone pigments), long-wave-sensitive umls:C0155015 Protan defect 0.2 0 GeneticVariation CLINVAR 2652 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive umls:C0155016 red-green color blindness 0.2 0 GeneticVariation CLINVAR 5256 PHKA2 phosphorylase kinase, alpha 2 (liver) umls:C0017927 Glycogen Storage Disease Type VIII 0.2 0 GeneticVariation CLINVAR 5256 PHKA2 phosphorylase kinase, alpha 2 (liver) umls:C2748941 Glycogen Storage Disease, Type IXA2 0.2 0 GeneticVariation CLINVAR 4281 MID1 midline 1 umls:C0175696 Congenital cleft larynx and Opitz-Frias syndrome 0.2 0 GeneticVariation CLINVAR 190 NR0B1 nuclear receptor subfamily 0, group B, member 1 umls:C0342482 Congenital adrenal hypoplasia, X-linked 0.2 0 GeneticVariation CLINVAR 190 NR0B1 nuclear receptor subfamily 0, group B, member 1 umls:C1846220 Adrenal Hypoplasia, Congenital, with Precocious Puberty 0.2 0 GeneticVariation CLINVAR 190 NR0B1 nuclear receptor subfamily 0, group B, member 1 umls:C2749175 Mineralocorticoid Deficiency, Isolated 0.2 0 GeneticVariation CLINVAR 5354 PLP1 proteolipid protein 1 umls:C0751915 Pelizaeus-Merzbacher Disease, Atypical 0.2 0 GeneticVariation CLINVAR 7454 WAS Wiskott-Aldrich syndrome umls:C1839164 Thrombocytopenia, X-Linked, Intermittent 0.2 0 GeneticVariation CLINVAR 5199 CFP complement factor properdin umls:C1839455 Properdin Deficiency, Type II 0.2 0 GeneticVariation CLINVAR 5199 CFP complement factor properdin umls:C1839456 Properdin Deficiency, Type III 0.2 0 GeneticVariation CLINVAR 215 ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 umls:C1868690 Hypoadrenocorticism, familial 0.2 0 GeneticVariation CLINVAR 695 BTK Bruton agammaglobulinemia tyrosine kinase umls:C0241932 Hypogammaglobulinemia, X-Linked 0.2 0 GeneticVariation CLINVAR 9210 BMP15 bone morphogenetic protein 15 umls:C1845295 Premature Ovarian Failure 4 0.2 0 GeneticVariation CLINVAR 1741 DLG3 discs, large homolog 3 (Drosophila) umls:C3275443 MENTAL RETARDATION, X-LINKED 90 0.2 0 GeneticVariation CLINVAR 2273 FHL1 four and a half LIM domains 1 umls:C2749106 Emery-Dreifuss Muscular Dystrophy 6, X-Linked 0.2 0 GeneticVariation CLINVAR 7512 XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound umls:C3806711 ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 4204 MECP2 methyl CpG binding protein 2 umls:C2677682 Rett Syndrome, Zappella Variant 0.2 0 GeneticVariation CLINVAR 1629 DBT dihydrolipoamide branched chain transacylase E2 umls:C1855371 Maple syrup urine disease, type 2 0.2 0 GeneticVariation CLINVAR 669 BPGM 2,3-bisphosphoglycerate mutase umls:C1291620 Deficiency of bisphosphoglycerate mutase 0.2 0 GeneticVariation CLINVAR 729 C6 complement component 6 umls:C2676233 C6 Deficiency, Subtotal 0.2 0 GeneticVariation CLINVAR 717 C2 complement component 2 umls:C3809653 MACULAR DEGENERATION, AGE-RELATED, 14 0.2 0 GeneticVariation CLINVAR 1589 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 umls:C1859995 Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 0.2 0 GeneticVariation CLINVAR 7422 VEGFA vascular endothelial growth factor A umls:C1851473 ATHEROSCLEROSIS, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 7124 TNF tumor necrosis factor umls:C1855457 MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding) 0.2 0 GeneticVariation CLINVAR 7124 TNF tumor necrosis factor umls:C1835223 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C0546837 Esophageal Cancer 0.2 0 GeneticVariation CLINVAR 7048 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) umls:C2674876 Loeys-Dietz Syndrome, Type 1b 0.2 0 GeneticVariation CLINVAR 7046 TGFBR1 transforming growth factor, beta receptor 1 umls:C2697933 Loeys-Dietz Syndrome Type 1 0.2 0 GeneticVariation CLINVAR 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C0206682 Adenocarcinoma, Follicular 0.2 0 GeneticVariation CLINVAR 3265 HRAS Harvey rat sarcoma viral oncogene homolog umls:C1968782 Myopathy, Congenital, With Excess Of Muscle Spindles 0.2 0 GeneticVariation CLINVAR 7201 TRHR thyrotropin-releasing hormone receptor umls:C1861106 Thyrotropin-Releasing Hormone Resistance, Generalized 0.2 0 GeneticVariation CLINVAR 7038 TG thyroglobulin umls:C1842444 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 0.2 0 GeneticVariation CLINVAR 7058 THBS2 thrombospondin 2 umls:C2676840 LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 6997 TDGF1 teratocarcinoma-derived growth factor 1 umls:C1861235 Forebrain Defects 0.2 0 GeneticVariation CLINVAR 7015 TERT telomerase reverse transcriptase umls:C1840169 CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 975 CD81 CD81 molecule umls:C3150741 IMMUNODEFICIENCY, COMMON VARIABLE, 6 0.2 0 GeneticVariation CLINVAR 916 CD3E CD3e molecule, epsilon (CD3-TCR complex) umls:C3810127 IMMUNODEFICIENCY 18 0.2 0 GeneticVariation CLINVAR 915 CD3D CD3d molecule, delta (CD3-TCR complex) umls:C3810147 IMMUNODEFICIENCY 19 0.2 0 GeneticVariation CLINVAR 917 CD3G CD3g molecule, gamma (CD3-TCR complex) umls:C3810107 IMMUNODEFICIENCY 17 0.2 0 GeneticVariation CLINVAR 6834 SURF1 surfeit 1 umls:C1850599 Leigh Syndrome due to Mitochondrial Complex IV Deficiency 0.2 0 GeneticVariation CLINVAR 6390 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 4314 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) umls:C3280913 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6 0.2 0 GeneticVariation CLINVAR 4254 KITLG KIT ligand umls:C2674081 Skin/Hair/Eye Pigmentation, Variation In, 7 0.2 0 GeneticVariation CLINVAR 6710 SPTB spectrin, beta, erythrocytic umls:C1866810 Elliptocytosis 3 0.2 0 GeneticVariation CLINVAR 6710 SPTB spectrin, beta, erythrocytic umls:C0520739 Pyropoikilocytosis, Hereditary 0.2 0 GeneticVariation CLINVAR 6755 SSTR5 somatostatin receptor 5 umls:C2676192 SOMATOSTATIN ANALOG, RESISTANCE TO 0.2 0 GeneticVariation CLINVAR 6323 SCN1A sodium channel, voltage gated, type I alpha subunit umls:C2751756 Febrile Convulsions, Familial, 3a 0.2 0 GeneticVariation CLINVAR 6569 SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 umls:C3150652 FANCONI RENOTUBULAR SYNDROME 2 0.2 0 GeneticVariation CLINVAR 2524 FUT2 fucosyltransferase 2 (secretor status included) umls:C1866980 NORWALK VIRUS INFECTION, RESISTANCE TO 0.2 0 GeneticVariation CLINVAR 6295 SAG S-antigen; retina and pineal gland (arrestin) umls:C3151061 RETINITIS PIGMENTOSA 47 0.2 0 GeneticVariation CLINVAR 6261 RYR1 ryanodine receptor 1 (skeletal) umls:C2674259 Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber 0.2 0 GeneticVariation CLINVAR 6094 ROM1 retinal outer segment membrane protein 1 umls:C2675552 Retinitis Pigmentosa 7, Digenic 0.2 0 GeneticVariation CLINVAR 590 BCHE butyrylcholinesterase umls:C1867468 Apnea, Postanesthetic 0.2 0 GeneticVariation CLINVAR 590 BCHE butyrylcholinesterase umls:C1867469 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 0.2 0 GeneticVariation CLINVAR 7535 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa umls:C1849236 Severe combined immunodeficiency, atypical 0.2 0 GeneticVariation CLINVAR 5770 PTPN1 protein tyrosine phosphatase, non-receptor type 1 umls:C1852091 INSULIN RESISTANCE, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 5781 PTPN11 protein tyrosine phosphatase, non-receptor type 11 umls:C0041409 male turner syndrome 0.2 0 GeneticVariation CLINVAR 5732 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa umls:C1876174 ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 3736 KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 umls:C2674766 Myokymia 1 0.2 0 GeneticVariation CLINVAR 6403 SELP selectin P (granule membrane protein 140kDa, antigen CD62) umls:C1840254 ATOPY, SUSCEPTIBILITY TO (finding) 0.2 0 GeneticVariation CLINVAR 2815 GP9 glycoprotein IX (platelet) umls:C1856448 Bernard-Soulier Syndrome, Type C 0.2 0 GeneticVariation CLINVAR 948 CD36 CD36 molecule (thrombospondin receptor) umls:C1970441 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7 0.2 0 GeneticVariation CLINVAR 3690 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) umls:C0398648 Posttransfusion Purpura 0.2 0 GeneticVariation CLINVAR 5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha umls:C0858252 Breast Adenocarcinoma 0.2 0 GeneticVariation CLINVAR 5244 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 umls:C0008325 Cholecystitis 0.2 0 GeneticVariation CLINVAR 5551 PRF1 perforin 1 (pore forming protein) umls:C2684859 APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) 0.2 0 GeneticVariation CLINVAR 5551 PRF1 perforin 1 (pore forming protein) umls:C0002874 Anemia, Aplastic 0.2 0 GeneticVariation CLINVAR 5444 PON1 paraoxonase 1 umls:C1827841 Enzyme activity finding 0.2 0 GeneticVariation CLINVAR 2737 GLI3 GLI family zinc finger 3 umls:C1868120 POSTAXIAL POLYDACTYLY, TYPE B 0.2 0 GeneticVariation CLINVAR 2064 ERBB2 erb-b2 receptor tyrosine kinase 2 umls:C2750850 GLIOMA SUSCEPTIBILITY 1 0.2 0 GeneticVariation CLINVAR 4233 MET MET proto-oncogene, receptor tyrosine kinase umls:C0279606 childhood hepatocellular carcinoma 0.2 0 GeneticVariation CLINVAR 4193 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase umls:C3280690 ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 5979 RET ret proto-oncogene umls:C1859049 CCHS WITH HIRSCHSPRUNG DISEASE 0.2 0 GeneticVariation CLINVAR 4843 NOS2 nitric oxide synthase 2, inducible umls:C2720293 MALARIA, RESISTANCE TO 0.2 0 GeneticVariation CLINVAR 4843 NOS2 nitric oxide synthase 2, inducible umls:C1970030 MALARIA, SEVERE, RESISTANCE TO 0.2 0 GeneticVariation CLINVAR 4846 NOS3 nitric oxide synthase 3 (endothelial cell) umls:C1834153 ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 4901 NRL neural retina leucine zipper umls:C1834330 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 0.2 0 GeneticVariation CLINVAR 4644 MYO5A myosin VA (heavy chain 12, myoxin) umls:C1836573 Griscelli syndrome type 3 0.2 0 GeneticVariation CLINVAR 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C3150690 LEFT VENTRICULAR NONCOMPACTION 5 0.2 0 GeneticVariation CLINVAR 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C1836230 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 6347 CCL2 chemokine (C-C motif) ligand 2 umls:C1834750 CORONARY ARTERY DISEASE, MODIFIER OF 0.2 0 GeneticVariation CLINVAR 3908 LAMA2 laminin, alpha 2 umls:C1842898 Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency 0.2 0 GeneticVariation CLINVAR 176 ACAN aggrecan umls:C0029421 Osteochondritis Dissecans 0.2 0 GeneticVariation CLINVAR 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C2751296 INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC 0.2 0 GeneticVariation CLINVAR 4157 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) umls:C2678403 UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 4049 LTA lymphotoxin alpha umls:C2750103 LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 3972 LHB luteinizing hormone beta polypeptide umls:C0151721 Male hypogonadism 0.2 0 GeneticVariation CLINVAR 2796 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) umls:C3553845 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA 0.2 0 GeneticVariation CLINVAR 240 ALOX5 arachidonate 5-lipoxygenase umls:C1833270 ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN 0.2 0 GeneticVariation CLINVAR 4018 LPA lipoprotein, Lp(a) umls:C1835362 Lp(A) Deficiency, Congenital 0.2 0 GeneticVariation CLINVAR 5788 PTPRC protein tyrosine phosphatase, receptor type, C umls:C1835407 HEPATITIS C VIRUS, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 861 RUNX1 runt-related transcription factor 1 umls:C1860788 Transient Myeloproliferative Disorder of Down Syndrome 0.2 0 GeneticVariation CLINVAR 3858 KRT10 keratin 10, type I umls:C1836681 Erythrokeratoderma, Reticular 0.2 0 GeneticVariation CLINVAR 3852 KRT5 keratin 5, type II umls:C0406811 Reticulate acropigmentation of Kitamura 0.2 0 GeneticVariation CLINVAR 3852 KRT5 keratin 5, type II umls:C1832926 Epidermolysis Bullosa Simplex, Autosomal Recessive 0.2 0 GeneticVariation CLINVAR 3816 KLK1 kallikrein 1 umls:C1835808 Kallikrein, Decreased Urinary Activity of 0.2 0 GeneticVariation CLINVAR 3383 ICAM1 intercellular adhesion molecule 1 umls:C1855457 MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding) 0.2 0 GeneticVariation CLINVAR 3566 IL4R interleukin 4 receptor umls:C1840254 ATOPY, SUSCEPTIBILITY TO (finding) 0.2 0 GeneticVariation CLINVAR 3596 IL13 interleukin 13 umls:C1869116 ASTHMA, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 3643 INSR insulin receptor umls:C0271690 Type 2 diabetes mellitus with acanthosis nigricans 0.2 0 GeneticVariation CLINVAR 3659 IRF1 interferon regulatory factor 1 umls:C0007131 Carcinoma, Non-Small-Cell Lung 0.2 0 GeneticVariation CLINVAR 3458 IFNG interferon, gamma umls:C2684859 APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) 0.2 0 GeneticVariation CLINVAR 3691 ITGB4 integrin, beta 4 umls:C0080333 Weber-Cockayne syndrome 0.2 0 GeneticVariation CLINVAR 3507 IGHM immunoglobulin heavy constant mu umls:C1832241 Agammaglobulinemia, non-Bruton type 0.2 0 GeneticVariation CLINVAR 2212 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) umls:C1970029 MALARIA, SEVERE, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 338917 VSX2 visual system homeobox 2 umls:C1864722 Microphthalmia, Cataracts, and Iris Abnormalities 0.2 0 GeneticVariation CLINVAR 3239 HOXD13 homeobox D13 umls:C1861368 Synpolydactyly With Foot Anomalies 0.2 0 GeneticVariation CLINVAR 3156 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase umls:C1840531 STATINS, ATTENUATED CHOLESTEROL LOWERING BY 0.2 0 GeneticVariation CLINVAR 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C2697310 SARCOIDOSIS, SUSCEPTIBILITY TO, 1 0.2 0 GeneticVariation CLINVAR 3106 HLA-B major histocompatibility complex, class I, B umls:C1840547 ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 3098 HK1 hexokinase 1 umls:C0472792 Hemolytic anemia due to hexokinase deficiency 0.2 0 GeneticVariation CLINVAR 6927 HNF1A HNF1 homeobox A umls:C1852091 INSULIN RESISTANCE, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 6927 HNF1A HNF1 homeobox A umls:C0279702 Hypernephroma 0.2 0 GeneticVariation CLINVAR 3048 HBG2 hemoglobin, gamma G umls:C1841621 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 0.2 0 GeneticVariation CLINVAR 3047 HBG1 hemoglobin, gamma A umls:C1841621 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 0.2 0 GeneticVariation CLINVAR 3043 HBB hemoglobin, beta umls:C2720293 MALARIA, RESISTANCE TO 0.2 0 GeneticVariation CLINVAR 3043 HBB hemoglobin, beta umls:C0019024 Hemoglobin E 0.2 0 GeneticVariation CLINVAR 3043 HBB hemoglobin, beta umls:C0599528 beta thalassemia major anemia 0.2 0 GeneticVariation CLINVAR 3162 HMOX1 heme oxygenase (decycling) 1 umls:C1841651 Heme Oxygenase 1 Deficiency 0.2 0 GeneticVariation CLINVAR 2771 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 umls:C1370419 Granulosa cell tumor of the ovary 0.2 0 GeneticVariation CLINVAR 2771 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 umls:C0221406 Pituitary ACTH Hypersecretion 0.2 0 GeneticVariation CLINVAR 3848 KRT1 keratin 1, type II umls:C1862005 Epidermolytic Hyperkeratosis, Late-Onset 0.2 0 GeneticVariation CLINVAR 2778 GNAS GNAS complex locus umls:C0221406 Pituitary ACTH Hypersecretion 0.2 0 GeneticVariation CLINVAR 5921 RASA1 RAS p21 protein activator (GTPase activating protein) 1 umls:C2675370 Capillary Malformation Without Arteriovenous Malformation 0.2 0 GeneticVariation CLINVAR 629 CFB complement factor B umls:C3809653 MACULAR DEGENERATION, AGE-RELATED, 14 0.2 0 GeneticVariation CLINVAR 2908 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) umls:C1841973 Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance 0.2 0 GeneticVariation CLINVAR 2566 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 umls:C1969810 Febrile Convulsions, Familial, 8 0.2 0 GeneticVariation CLINVAR 2563 GABRD gamma-aminobutyric acid (GABA) A receptor, delta umls:C3150401 GEFSP5, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 2554 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 umls:C1970160 Epilepsy, Childhood Absence, Susceptibility To, 4 0.2 0 GeneticVariation CLINVAR 2683 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 umls:C1846816 Congenital Disorder Of Glycosylation, Type IIID 0.2 0 GeneticVariation CLINVAR 2528 FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) umls:C3151219 FUCOSYLTRANSFERASE 6 DEFICIENCY 0.2 0 GeneticVariation CLINVAR 2261 FGFR3 fibroblast growth factor receptor 3 umls:C0699790 Colon Carcinoma 0.2 0 GeneticVariation CLINVAR 2243 FGA fibrinogen alpha chain umls:C1859970 Hypodysfibrinogenemia, Congenital 0.2 0 GeneticVariation CLINVAR 2495 FTH1 ferritin, heavy polypeptide 1 umls:C1851316 Iron Overload, Autosomal Dominant 0.2 0 GeneticVariation CLINVAR 356 FASLG Fas ligand (TNF superfamily, member 6) umls:C1866120 Autoimmune Lymphoproliferative Syndrome, Type IB 0.2 0 GeneticVariation CLINVAR 2071 ERCC3 excision repair cross-complementation group 3 umls:C1970808 Xeroderma Pigmentosum B/Cockayne Syndrome 0.2 0 GeneticVariation CLINVAR 2053 EPHX2 epoxide hydrolase 2, cytoplasmic umls:C0020445 Hyperlipoproteinemia Type II 0.2 0 GeneticVariation CLINVAR 2052 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) umls:C1843139 Hypercholanemia, Familial 0.2 0 GeneticVariation CLINVAR 1908 EDN3 endothelin 3 umls:C1859049 CCHS WITH HIRSCHSPRUNG DISEASE 0.2 0 GeneticVariation CLINVAR 1816 DRD5 dopamine receptor D5 umls:C1865819 Cervical Dystonia, Primary 0.2 0 GeneticVariation CLINVAR 1804 DPP6 dipeptidyl-peptidase 6 umls:C2751829 Ventricular Fibrillation, Paroxysmal Familial, 2 0.2 0 GeneticVariation CLINVAR 1728 NQO1 NAD(P)H dehydrogenase, quinone 1 umls:C2675719 LEUKEMIA, POST-CHEMOTHERAPY, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 1834 DSPP dentin sialophosphoprotein umls:C0205730 Hereditary Opalescent Dentin (disorder) 0.2 0 GeneticVariation CLINVAR 1834 DSPP dentin sialophosphoprotein umls:C1527284 Denticles 0.2 0 GeneticVariation CLINVAR 1604 CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) umls:C1292305 Cromer blood group system 0.2 0 GeneticVariation CLINVAR 3586 IL10 interleukin 10 umls:C1836230 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 1585 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 umls:C1852324 ALDOSTERONE TO RENIN RATIO, INCREASED 0.2 0 GeneticVariation CLINVAR 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C1837156 DEBRISOQUINE, POOR METABOLISM OF 0.2 0 GeneticVariation CLINVAR 1565 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 umls:C1837157 DEBRISOQUINE, ULTRARAPID METABOLISM OF 0.2 0 GeneticVariation CLINVAR 1557 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 umls:C1836024 MEPHENYTOIN, POOR METABOLISM OF 0.2 0 GeneticVariation CLINVAR 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 umls:C1857845 CELIAC DISEASE, SUSCEPTIBILITY TO, 3 0.2 0 GeneticVariation CLINVAR 3588 IL10RB interleukin 10 receptor, beta umls:C1864880 HEPATITIS B VIRUS, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 1427 CRYGS crystallin, gamma S umls:C0524524 Pseudoaphakia 0.2 0 GeneticVariation CLINVAR 1413 CRYBA4 crystallin, beta A4 umls:C1864879 Cataract, Lamellar 2 0.2 0 GeneticVariation CLINVAR 1410 CRYAB crystallin, alpha B umls:C3151065 Cataract, Posterior Polar, 2 0.2 0 GeneticVariation CLINVAR 4488 MSX2 msh homeobox 2 umls:C1868599 Parietal Foramina 1 0.2 0 GeneticVariation CLINVAR 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C1968897 LUNG CANCER, PROTECTION AGAINST 0.2 0 GeneticVariation CLINVAR 1548 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 umls:C1852514 TEGAFUR, POOR METABOLISM OF 0.2 0 GeneticVariation CLINVAR 1380 CR2 complement component (3d/Epstein Barr virus) receptor 2 umls:C1970455 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 0.2 0 GeneticVariation CLINVAR 1378 CR1 complement component (3b/4b) receptor 1 (Knops blood group) umls:C1970030 MALARIA, SEVERE, RESISTANCE TO 0.2 0 GeneticVariation CLINVAR 716 C1S complement component 1, s subcomponent umls:C0398755 Complement 1s deficiency 0.2 0 GeneticVariation CLINVAR 712 C1QA complement component 1, q subcomponent, A chain umls:C3150902 C1q DEFICIENCY 0.2 0 GeneticVariation CLINVAR 4317 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) umls:C0729264 Preterm Premature Rupture of the Membranes 0.2 0 GeneticVariation CLINVAR 4312 MMP1 matrix metallopeptidase 1 (interstitial collagenase) umls:C0729264 Preterm Premature Rupture of the Membranes 0.2 0 GeneticVariation CLINVAR 1301 COL11A1 collagen, type XI, alpha 1 umls:C2676840 LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 1291 COL6A1 collagen, type VI, alpha 1 umls:C0699743 Congenital muscular dystrophy 0.2 0 GeneticVariation CLINVAR 1297 COL9A1 collagen, type IX, alpha 1 umls:C2675767 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 0.2 0 GeneticVariation CLINVAR 1278 COL1A2 collagen, type I, alpha 2 umls:C0268360 Osteogenesis imperfecta, recessive perinatal lethal 0.2 0 GeneticVariation CLINVAR 1277 COL1A1 collagen, type I, alpha 1 umls:C0268360 Osteogenesis imperfecta, recessive perinatal lethal 0.2 0 GeneticVariation CLINVAR 1277 COL1A1 collagen, type I, alpha 1 umls:C2674706 Osteopenic Nonfracture Syndrome 0.2 0 GeneticVariation CLINVAR 1277 COL1A1 collagen, type I, alpha 1 umls:C1852924 OI/EDS Combined Syndrome 0.2 0 GeneticVariation CLINVAR 1280 COL2A1 collagen, type II, alpha 1 umls:C1852989 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 0.2 0 GeneticVariation CLINVAR 1294 COL7A1 collagen, type VII, alpha 1 umls:C2673611 Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 0.2 0 GeneticVariation CLINVAR 1294 COL7A1 collagen, type VII, alpha 1 umls:C2673612 Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 0.2 0 GeneticVariation CLINVAR 1138 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) umls:C2677571 LUNG CANCER SUSCEPTIBILITY 2 (disorder) 0.2 0 GeneticVariation CLINVAR 1136 CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) umls:C2677571 LUNG CANCER SUSCEPTIBILITY 2 (disorder) 0.2 0 GeneticVariation CLINVAR 1308 COL17A1 collagen, type XVII, alpha 1 umls:C2608084 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 0.2 0 GeneticVariation CLINVAR 931 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 umls:C3150740 IMMUNODEFICIENCY, COMMON VARIABLE, 5 0.2 0 GeneticVariation CLINVAR 973 CD79A CD79a molecule, immunoglobulin-associated alpha umls:C3150751 AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 6006 RHCE Rh blood group, CcEe antigens umls:C1862196 Rh-Null Disease, Amorph Type 0.2 0 GeneticVariation CLINVAR 2995 GYPC glycophorin C (Gerbich blood group) umls:C2720293 MALARIA, RESISTANCE TO 0.2 0 GeneticVariation CLINVAR 682 BSG basigin (Ok blood group) umls:C1862209 BLOOD GROUP--OK 0.2 0 GeneticVariation CLINVAR 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C1862326 HE, STOMATOCYTIC 0.2 0 GeneticVariation CLINVAR 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C1862191 BLOOD GROUP--WALDNER TYPE 0.2 0 GeneticVariation CLINVAR 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C1862190 BLOOD GROUP--WRIGHT ANTIGEN 0.2 0 GeneticVariation CLINVAR 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C1969039 Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology 0.2 0 GeneticVariation CLINVAR 6521 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) umls:C1832168 BLOOD GROUP--FROESE 0.2 0 GeneticVariation CLINVAR 488 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 umls:C1852296 Darier Disease, Acral Hemorrhagic Type 0.2 0 GeneticVariation CLINVAR 335 APOA1 apolipoprotein A-I umls:C0342898 Apolipoprotein A-I deficiency 0.2 0 GeneticVariation CLINVAR 3459 IFNGR1 interferon gamma receptor 1 umls:C0694566 Disseminated atypical mycobacterial infection 0.2 0 GeneticVariation CLINVAR 3459 IFNGR1 interferon gamma receptor 1 umls:C1838332 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 930 CD19 CD19 molecule umls:C3150738 Antibody Deficiency due to Defect in CD19 0.2 0 GeneticVariation CLINVAR 287 ANK2 ankyrin 2, neuronal umls:C1141890 Congenital long QT syndrome 0.2 0 GeneticVariation CLINVAR 287 ANK2 ankyrin 2, neuronal umls:C0237314 Irregular heart beat 0.2 0 GeneticVariation CLINVAR 1636 ACE angiotensin I converting enzyme umls:C1862874 ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE 0.2 0 GeneticVariation CLINVAR 183 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) umls:C1862886 IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 351 APP amyloid beta (A4) precursor protein umls:C1863052 Alzheimer Disease, Familial, 1 0.2 0 GeneticVariation CLINVAR 351 APP amyloid beta (A4) precursor protein umls:C1863053 Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy 0.2 0 GeneticVariation CLINVAR 5663 PSEN1 presenilin 1 umls:C1843014 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques 0.2 0 GeneticVariation CLINVAR 174 AFP alpha-fetoprotein umls:C1863080 ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF 0.2 0 GeneticVariation CLINVAR 174 AFP alpha-fetoprotein umls:C1863081 alpha-Fetoprotein Deficiency 0.2 0 GeneticVariation CLINVAR 213 ALB albumin umls:C0268345 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant 0.2 0 GeneticVariation CLINVAR 213 ALB albumin umls:C0025202 Melanoma 0.2 0 GeneticVariation CLINVAR 283120 H19 H19, imprinted maternally expressed transcript (non-protein coding) umls:C0694899 WILMS TUMOR 2 0.2 0 GeneticVariation CLINVAR 291 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 umls:C3809443 MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) 0.2 0 GeneticVariation CLINVAR 58 ACTA1 actin, alpha 1, skeletal muscle umls:C1834339 Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 0.2 0 GeneticVariation CLINVAR 58 ACTA1 actin, alpha 1, skeletal muscle umls:C2750537 Myopathy, Actin, Congenital, With Cores 0.2 0 GeneticVariation CLINVAR 429 ASCL1 achaete-scute family bHLH transcription factor 1 umls:C1859049 CCHS WITH HIRSCHSPRUNG DISEASE 0.2 0 GeneticVariation CLINVAR 217 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) umls:C2608086 HANGOVER, SUSCEPTIBILITY TO (finding) 0.2 0 GeneticVariation CLINVAR 338567 KCNK18 potassium channel, two pore domain subfamily K, member 18 umls:C3150908 MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 0.2 0 GeneticVariation CLINVAR 3651 PDX1 pancreatic and duodenal homeobox 1 umls:C1833104 Diabetes Mellitus, Permanent Neonatal 0.2 0 GeneticVariation CLINVAR 54463 FAM134B family with sequence similarity 134, member B umls:C2752089 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA 0.2 0 GeneticVariation CLINVAR 570 BAAT bile acid CoA:amino acid N-acyltransferase umls:C2749604 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 0.2 0 GeneticVariation CLINVAR 10516 FBLN5 fibulin 5 umls:C0268350 Cutis Laxa, Autosomal Dominant 0.2 0 GeneticVariation CLINVAR 5663 PSEN1 presenilin 1 umls:C3151038 ACNE INVERSA, FAMILIAL, 3 0.2 0 GeneticVariation CLINVAR 1284 COL4A2 collagen, type IV, alpha 2 umls:C0019191 Hepatitis, Infectious Canine 0.2 0 GeneticVariation CLINVAR 1298 COL9A2 collagen, type IX, alpha 2 umls:C3280342 STICKLER SYNDROME, TYPE V 0.2 0 GeneticVariation CLINVAR 1302 COL11A2 collagen, type XI, alpha 2 umls:C3281128 FIBROCHONDROGENESIS 2 0.2 0 GeneticVariation CLINVAR 1555 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 umls:C3281153 EFAVIRENZ, POOR METABOLISM OF 0.2 0 GeneticVariation CLINVAR 308 ANXA5 annexin A5 umls:C3280674 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3 0.2 0 GeneticVariation CLINVAR 2805 GOT1 glutamic-oxaloacetic transaminase 1, soluble umls:C3280741 ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 0.2 0 GeneticVariation CLINVAR 2903 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A umls:C1832814 Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant 0.2 0 GeneticVariation CLINVAR 2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1 umls:C1864649 Myasthenia, Limb-Girdle, with Tubular Aggregates 0.2 0 GeneticVariation CLINVAR 1439 CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) umls:C3280574 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 0.2 0 GeneticVariation CLINVAR 3043 HBB hemoglobin, beta umls:C1841621 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 0.2 0 GeneticVariation CLINVAR 3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 umls:C1868685 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 3667 IRS1 insulin receptor substrate 1 umls:C1840169 CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 4149 MAX MYC associated factor X umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 4507 MTAP methylthioadenosine phosphorylase umls:C1862177 Diaphyseal medullary stenosis with malignant fibrous histiocytoma 0.2 0 GeneticVariation CLINVAR 4286 MITF microphthalmia-associated transcription factor umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 5346 PLIN1 perilipin 1 umls:C3151268 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 0.2 0 GeneticVariation CLINVAR 5350 PLN phospholamban umls:C3151265 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 0.2 0 GeneticVariation CLINVAR 5176 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 umls:C3151433 OSTEOGENESIS IMPERFECTA, TYPE XII 0.2 0 GeneticVariation CLINVAR 8858 PROZ protein Z, vitamin K-dependent plasma glycoprotein umls:C3151465 PROTEIN Z DEFICIENCY 0.2 0 GeneticVariation CLINVAR 5888 RAD51 RAD51 recombinase umls:C3281089 MIRROR MOVEMENTS 2 0.2 0 GeneticVariation CLINVAR 1475 CSTA cystatin A (stefin A) umls:C1842797 Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like 0.2 0 GeneticVariation CLINVAR 920 CD4 CD4 molecule umls:C3151379 OKT4 EPITOPE DEFICIENCY 0.2 0 GeneticVariation CLINVAR 7015 TERT telomerase reverse transcriptase umls:C1857144 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 0.2 0 GeneticVariation CLINVAR 7067 THRA thyroid hormone receptor, alpha umls:C3280817 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 0.2 0 GeneticVariation CLINVAR 7403 KDM6A lysine (K)-specific demethylase 6A umls:C3275495 KABUKI SYNDROME 2 0.2 0 GeneticVariation CLINVAR 23676 SMPX small muscle protein, X-linked umls:C1848204 Deafness, X-Linked 4 0.2 0 GeneticVariation CLINVAR 84061 MAGT1 magnesium transporter 1 umls:C3275445 IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA 0.2 0 GeneticVariation CLINVAR 4535 ND1 NADH dehydrogenase, subunit 1 (complex I) umls:C3151897 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 0.2 0 GeneticVariation CLINVAR 4511 TRNC tRNA umls:C0162671 MELAS Syndrome 0.2 0 GeneticVariation CLINVAR 4564 TRNH tRNA umls:C3151897 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 0.2 0 GeneticVariation CLINVAR 4558 TRNF tRNA umls:C1852373 Mitochondrial encephalopathy 0.2 0 GeneticVariation CLINVAR 4578 TRNW tRNA umls:C0162666 Mitochondrial Encephalomyopathies 0.2 0 GeneticVariation CLINVAR 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C1963067 Atrial Fibrillation Adverse Event 0.2 0 GeneticVariation CLINVAR 5336 PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) umls:C3280914 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 0.2 0 GeneticVariation CLINVAR 1109 AKR1C4 aldo-keto reductase family 1, member C4 umls:C1839840 Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase 0.2 0 GeneticVariation CLINVAR 9378 NRXN1 neurexin 1 umls:C3280524 SCHIZOPHRENIA 17 0.2 0 GeneticVariation CLINVAR 5800 PTPRO protein tyrosine phosphatase, receptor type, O umls:C3280100 NEPHROTIC SYNDROME, TYPE 6 0.2 0 GeneticVariation CLINVAR 1376 CPT2 carnitine palmitoyltransferase 2 umls:C3280160 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 0.2 0 GeneticVariation CLINVAR 1859 DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A umls:C3279839 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 0.2 0 GeneticVariation CLINVAR 3767 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 umls:C1833102 Diabetes Mellitus, Permanent Neonatal, With Neurologic Features 0.2 0 GeneticVariation CLINVAR 547 KIF1A kinesin family member 1A umls:C3280168 NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 0.2 0 GeneticVariation CLINVAR 1776 DNASE1L3 deoxyribonuclease I-like 3 umls:C3280742 SYSTEMIC LUPUS ERYTHEMATOSUS 16 0.2 0 GeneticVariation CLINVAR 7456 WIPF1 WAS/WASL interacting protein family, member 1 umls:C3281001 WISKOTT-ALDRICH SYNDROME 2 0.2 0 GeneticVariation CLINVAR 84059 GPR98 G protein-coupled receptor 98 umls:C3148929 USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC 0.2 0 GeneticVariation CLINVAR 5892 RAD51D RAD51 paralog D umls:C3280345 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 0.2 0 GeneticVariation CLINVAR 8289 ARID1A AT rich interactive domain 1A (SWI-like) umls:C3553247 MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 0.2 0 GeneticVariation CLINVAR 8323 FZD6 frizzled class receptor 6 umls:C0027339 Nail Diseases 0.2 0 GeneticVariation CLINVAR 9255 AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 umls:C1850053 Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 0.2 0 GeneticVariation CLINVAR 9187 SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 umls:C3151193 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 0.2 0 GeneticVariation CLINVAR 6868 ADAM17 ADAM metallopeptidase domain 17 umls:C3280501 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL 0.2 0 GeneticVariation CLINVAR 9429 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) umls:C3280986 BLOOD GROUP, JUNIOR SYSTEM 0.2 0 GeneticVariation CLINVAR 4704 NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 4705 NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 4709 NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa umls:C1838979 Mitochondrial complex I deficiency 0.2 0 GeneticVariation CLINVAR 5932 RBBP8 retinoblastoma binding protein 8 umls:C1847572 Seckel syndrome 2 0.2 0 GeneticVariation CLINVAR 26258 BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin umls:C3280026 HERMANSKY-PUDLAK SYNDROME 9 0.2 0 GeneticVariation CLINVAR 10019 SH2B3 SH2B adaptor protein 3 umls:C0001815 Primary Myelofibrosis 0.2 0 GeneticVariation CLINVAR 10058 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) umls:C3276339 BLOOD GROUP, LANGEREIS SYSTEM 0.2 0 GeneticVariation CLINVAR 23765 IL17RA interleukin 17 receptor A umls:C3151402 CANDIDIASIS, FAMILIAL, 5 0.2 0 GeneticVariation CLINVAR 6785 ELOVL4 ELOVL fatty acid elongase 4 umls:C3280856 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 0.2 0 GeneticVariation CLINVAR 23405 DICER1 dicer 1, ribonuclease type III umls:C0018022 Goiter, Endemic 0.2 0 GeneticVariation CLINVAR 9573 GDF3 growth differentiation factor 3 umls:C0009363 Coloboma 0.2 0 GeneticVariation CLINVAR 121340 SP7 Sp7 transcription factor umls:C3151218 OSTEOGENESIS IMPERFECTA, TYPE XI 0.2 0 GeneticVariation CLINVAR 51103 NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 umls:C1838979 Mitochondrial complex I deficiency 0.2 0 GeneticVariation CLINVAR 11154 AP4S1 adaptor-related protein complex 4, sigma 1 subunit umls:C3279743 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 23431 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit umls:C3151056 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 10717 AP4B1 adaptor-related protein complex 4, beta 1 subunit umls:C3279738 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 55851 PSENEN presenilin enhancer gamma secretase subunit umls:C3151037 ACNE INVERSA, FAMILIAL, 2 0.2 0 GeneticVariation CLINVAR 9702 CEP57 centrosomal protein 57kDa umls:C3279843 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 0.2 0 GeneticVariation CLINVAR 84667 HES7 hes family bHLH transcription factor 7 umls:C1852521 Spondylocostal Dysostosis 4, Autosomal Dominant 0.2 0 GeneticVariation CLINVAR 6662 SOX9 SRY (sex determining region Y)-box 9 umls:C2749215 46,XX SEX REVERSAL 2 0.2 0 GeneticVariation CLINVAR 345611 IRGM immunity-related GTPase family, M umls:C2677079 Inflammatory Bowel Disease 19 0.2 0 GeneticVariation CLINVAR 29893 PSMC3IP PSMC3 interacting protein umls:C3280471 OVARIAN DYSGENESIS 3 0.2 0 GeneticVariation CLINVAR 338557 FFAR4 free fatty acid receptor 4 umls:C2675659 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 0.2 0 GeneticVariation CLINVAR 25782 RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) umls:C3280214 WARBURG MICRO SYNDROME 2 0.2 0 GeneticVariation CLINVAR 54820 NDE1 nudE neurodevelopment protein 1 umls:C3151461 LISSENCEPHALY 4 0.2 0 GeneticVariation CLINVAR 79600 TCTN1 tectonic family member 1 umls:C3280031 JOUBERT SYNDROME 13 0.2 0 GeneticVariation CLINVAR 95681 CEP41 centrosomal protein 41kDa umls:C3280897 JOUBERT SYNDROME 15 0.2 0 GeneticVariation CLINVAR 339983 NAT8L N-acetyltransferase 8-like (GCN5-related, putative) umls:C3279716 N-ACETYLASPARTATE DEFICIENCY 0.2 0 GeneticVariation CLINVAR 374654 KIF7 kinesin family member 7 umls:C3277723 JOUBERT SYNDROME 12 0.2 0 GeneticVariation CLINVAR 23424 TDRD7 tudor domain containing 7 umls:C3151304 CATARACT 36 0.2 0 GeneticVariation CLINVAR 11160 ERLIN2 ER lipid raft associated 2 umls:C2749936 Spastic Paraplegia 18, Autosomal Recessive 0.2 0 GeneticVariation CLINVAR 79955 PDZD7 PDZ domain containing 7 umls:C1848634 Usher syndrome, type 2A 0.2 0 GeneticVariation CLINVAR 79955 PDZD7 PDZ domain containing 7 umls:C3148929 USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC 0.2 0 GeneticVariation CLINVAR 91624 NEXN nexilin (F actin binding protein) umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.2 0 GeneticVariation CLINVAR 388962 BOLA3 bolA family member 3 umls:C3280378 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 0.2 0 GeneticVariation CLINVAR 84464 SLX4 SLX4 structure-specific endonuclease subunit umls:C1428293 FANCONI ANEMIA, COMPLEMENTATION GROUP P 0.2 0 GeneticVariation CLINVAR 113278 SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 umls:C0393540 Progressive bulbar palsy of childhood 0.2 0 GeneticVariation CLINVAR 55036 CCDC40 coiled-coil domain containing 40 umls:C3151137 CILIARY DYSKINESIA, PRIMARY, 15 0.2 0 GeneticVariation CLINVAR 54902 TTC19 tetratricopeptide repeat domain 19 umls:C3554605 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 0.2 0 GeneticVariation CLINVAR 79867 TCTN2 tectonic family member 2 umls:C1824359 TECTONIC FAMILY, MEMBER 2 0.2 0 GeneticVariation CLINVAR 283417 DPY19L2 dpy-19-like 2 (C. elegans) umls:C3151407 SPERMATOGENIC FAILURE 9 0.2 0 GeneticVariation CLINVAR 343641 TGM6 transglutaminase 6 umls:C0023467 Leukemia, Myeloid, Acute 0.2 0 GeneticVariation CLINVAR 112752 IFT43 intraflagellar transport 43 umls:C3279807 CRANIOECTODERMAL DYSPLASIA 3 0.2 0 GeneticVariation CLINVAR 3386 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) umls:C1292203 Landsteiner-Wiener phenotype 0.2 0 GeneticVariation CLINVAR 27077 B9D1 B9 protein domain 1 umls:C3280155 MECKEL SYNDROME, TYPE 9 0.2 0 GeneticVariation CLINVAR 83987 CCDC8 coiled-coil domain containing 8 umls:C3280146 THREE M SYNDROME 3 0.2 0 GeneticVariation CLINVAR 57572 DOCK6 dedicator of cytokinesis 6 umls:C3280182 ADAMS-OLIVER SYNDROME 2 0.2 0 GeneticVariation CLINVAR 80114 BICC1 BicC family RNA binding protein 1 umls:C1832471 Renal dysplasia diffuse cystic 0.2 0 GeneticVariation CLINVAR 65062 TMEM237 transmembrane protein 237 umls:C3280766 JOUBERT SYNDROME 14 0.2 0 GeneticVariation CLINVAR 84987 COX14 COX14 cytochrome c oxidase assembly factor umls:C0268237 Cytochrome-c Oxidase Deficiency 0.2 0 GeneticVariation CLINVAR 221927 BRAT1 BRCA1-associated ATM activator 1 umls:C3281029 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 0.2 0 GeneticVariation CLINVAR 55967 NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 57492 ARID1B AT rich interactive domain 1B (SWI1-like) umls:C3281201 MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 0.2 0 GeneticVariation CLINVAR 667 DST dystonin umls:C3539003 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 0.2 0 GeneticVariation CLINVAR 7306 TYRP1 tyrosinase-related protein 1 umls:C2677086 Skin/Hair/Eye Pigmentation, Variation In, 11 0.2 0 GeneticVariation CLINVAR 3350 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled umls:C3553418 PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT 0.2 0 GeneticVariation CLINVAR 9662 CEP135 centrosomal protein 135kDa umls:C3553414 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 567 B2M beta-2-microglobulin umls:C0268389 Amyloidosis, familial visceral 0.2 0 GeneticVariation CLINVAR 55750 AGK acylglycerol kinase umls:C3553494 CATARACT 38 0.2 0 GeneticVariation CLINVAR 6775 STAT4 signal transducer and activator of transcription 4 umls:C2677096 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11 0.2 0 GeneticVariation CLINVAR 80199 FUZ fuzzy planar cell polarity protein umls:C0027794 Neural Tube Defects 0.2 0 GeneticVariation CLINVAR 55217 TMLHE trimethyllysine hydroxylase, epsilon umls:C3550875 EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY 0.2 0 GeneticVariation CLINVAR 1380 CR2 complement component (3d/Epstein Barr virus) receptor 2 umls:C3542922 IMMUNODEFICIENCY, COMMON VARIABLE, 7 0.2 0 GeneticVariation CLINVAR 80254 CEP63 centrosomal protein 63kDa umls:C3553582 SECKEL SYNDROME 6 0.2 0 GeneticVariation CLINVAR 7157 TP53 tumor protein p53 umls:C3553606 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 0.2 0 GeneticVariation CLINVAR 8482 SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) umls:C3553633 BLOOD GROUP, JOHN MILTON HAGEN SYSTEM 0.2 0 GeneticVariation CLINVAR 65055 REEP1 receptor accessory protein 1 umls:C3553656 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB 0.2 0 GeneticVariation CLINVAR 10060 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 umls:C1838021 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 (finding) 0.2 0 GeneticVariation CLINVAR 10060 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 umls:C0878544 Cardiomyopathies 0.2 0 GeneticVariation CLINVAR 3459 IFNGR1 interferon gamma receptor 1 umls:C1112429 Interferon gamma receptor deficiency 0.2 0 GeneticVariation CLINVAR 3920 LAMP2 lysosomal-associated membrane protein 2 umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.2 0 GeneticVariation CLINVAR 6324 SCN1B sodium channel, voltage gated, type I beta subunit umls:C0003811 Arrhythmias, Cardiac 0.2 0 GeneticVariation CLINVAR 4784 NFIX nuclear factor I/X (CCAAT-binding transcription factor) umls:C0265211 Marshall-Smith syndrome 0.2 0 GeneticVariation CLINVAR 10786 SLC17A3 solute carrier family 17 (organic anion transporter), member 3 umls:C2675207 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4 0.2 0 GeneticVariation CLINVAR 23261 CAMTA1 calmodulin binding transcription activator 1 umls:C3553661 CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 0.2 0 GeneticVariation CLINVAR 220136 CFAP53 cilia and flagella associated protein 53 umls:C3553676 HETEROTAXY, VISCERAL, 6, AUTOSOMAL 0.2 0 GeneticVariation CLINVAR 7132 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A umls:C3553728 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5 0.2 0 GeneticVariation CLINVAR 124093 CCDC78 coiled-coil domain containing 78 umls:C3553709 MYOPATHY, CENTRONUCLEAR, 4 0.2 0 GeneticVariation CLINVAR 4053 LTBP2 latent transforming growth factor beta binding protein 2 umls:C1869114 WEILL-MARCHESANI SYNDROME 1 0.2 0 GeneticVariation CLINVAR 2911 GRM1 glutamate receptor, metabotropic 1 umls:C3553816 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 0.2 0 GeneticVariation CLINVAR 51684 SUFU suppressor of fused homolog (Drosophila) umls:C0025202 Melanoma 0.2 0 GeneticVariation CLINVAR 152816 C4orf26 chromosome 4 open reading frame 26 umls:C3553830 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 0.2 0 GeneticVariation CLINVAR 4173 MCM4 minichromosome maintenance complex component 4 umls:C1864947 Natural Killer Cell Deficiency, Familial Isolated 0.2 0 GeneticVariation CLINVAR 81494 CFHR5 complement factor H-related 5 umls:C3553720 CFHR5 DEFICIENCY 0.2 0 GeneticVariation CLINVAR 55869 HDAC8 histone deacetylase 8 umls:C1839736 Wilson-Turner X-linked mental retardation syndrome 0.2 0 GeneticVariation CLINVAR 54084 TSPEAR thrombospondin-type laminin G domain and EAR repeats umls:C3553932 DEAFNESS, AUTOSOMAL RECESSIVE 98 0.2 0 GeneticVariation CLINVAR 6789 STK4 serine/threonine kinase 4 umls:C3553943 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS 0.2 0 GeneticVariation CLINVAR 10111 RAD50 RAD50 homolog (S. cerevisiae) umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 5663 PSEN1 presenilin 1 umls:C1847200 Alzheimer disease type 4 0.2 0 GeneticVariation CLINVAR 79158 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits umls:C0086647 Mucopolysaccharidosis Type IIIA 0.2 0 GeneticVariation CLINVAR 6447 SCG5 secretogranin V (7B2 protein) umls:C1832587 Polyposis Syndrome, Hereditary Mixed, 1 0.2 0 GeneticVariation CLINVAR 7535 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa umls:C1837065 CD8 Deficiency, Familial 0.2 0 GeneticVariation CLINVAR 7157 TP53 tumor protein p53 umls:C2750850 GLIOMA SUSCEPTIBILITY 1 0.2 0 GeneticVariation CLINVAR 53947 A4GALT alpha 1,4-galactosyltransferase umls:C0020497 Hyperostosis, Cortical, Congenital 0.2 0 GeneticVariation CLINVAR 23086 EXPH5 exophilin 5 umls:C3554367 EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 55151 TMEM38B transmembrane protein 38B umls:C3554428 OSTEOGENESIS IMPERFECTA, TYPE XIV 0.2 0 GeneticVariation CLINVAR 60482 SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 umls:C1834703 Neuropathy, Distal Hereditary Motor, Type VIIA 0.2 0 GeneticVariation CLINVAR 4222 MEOX1 mesenchyme homeobox 1 umls:C1859209 Klippel Feil syndrome recessive type 0.2 0 GeneticVariation CLINVAR 55526 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 umls:C3554366 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 0.2 0 GeneticVariation CLINVAR 91574 C12orf65 chromosome 12 open reading frame 65 umls:C3539506 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 51574 LARP7 La ribonucleoprotein domain family, member 7 umls:C3554439 ALAZAMI SYNDROME 0.2 0 GeneticVariation CLINVAR 57680 CHD8 chromodomain helicase DNA binding protein 8 umls:C3554373 AUTISM, SUSCEPTIBILITY TO, 18 0.2 0 GeneticVariation CLINVAR 93233 CCDC114 coiled-coil domain containing 114 umls:C3540844 CILIARY DYSKINESIA, PRIMARY, 20 0.2 0 GeneticVariation CLINVAR 4893 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog umls:C0334082 Epidermal Nevus 0.2 0 GeneticVariation CLINVAR 57459 GATAD2B GATA zinc finger domain containing 2B umls:C3554448 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 0.2 0 GeneticVariation CLINVAR 80821 DDHD1 DDHD domain containing 1 umls:C1836295 Spastic Paraplegia 28, Autosomal Recessive 0.2 0 GeneticVariation CLINVAR 9895 TECPR2 tectonin beta-propeller repeat containing 2 umls:C3542549 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 3300 DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 umls:C3553989 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 0.2 0 GeneticVariation CLINVAR 54768 HYDIN HYDIN, axonemal central pair apparatus protein umls:C1837615 Ciliary Dyskinesia, Primary, 5 0.2 0 GeneticVariation CLINVAR 8799 PEX11B peroxisomal biogenesis factor 11 beta umls:C3554055 PEROXISOME BIOGENESIS DISORDER 14B 0.2 0 GeneticVariation CLINVAR 51475 CABP2 calcium binding protein 2 umls:C3470075 DEAFNESS, AUTOSOMAL RECESSIVE 93 0.2 0 GeneticVariation CLINVAR 79719 AAGAB alpha- and gamma-adaptin binding protein umls:C1835662 Keratosis palmoplantaris papulosa 0.2 0 GeneticVariation CLINVAR 6154 RPL26 ribosomal protein L26 umls:C3554042 DIAMOND-BLACKFAN ANEMIA 11 0.2 0 GeneticVariation CLINVAR 4604 MYBPC1 myosin binding protein C, slow type umls:C3554046 LETHAL CONGENITAL CONTRACTURE SYNDROME 4 0.2 0 GeneticVariation CLINVAR 1349 COX7B cytochrome c oxidase subunit VIIb umls:C3550921 APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL DYSMORPHISM, AND OTHER CONGENITAL ANOMALIES 0.2 0 GeneticVariation CLINVAR 283310 OTOGL otogelin-like umls:C3554159 DEAFNESS, AUTOSOMAL RECESSIVE 84B 0.2 0 GeneticVariation CLINVAR 123263 MTFMT mitochondrial methionyl-tRNA formyltransferase umls:C1838951 Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0.2 0 GeneticVariation CLINVAR 4728 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) umls:C1838979 Mitochondrial complex I deficiency 0.2 0 GeneticVariation CLINVAR 5119 CHMP1A charged multivesicular body protein 1A umls:C3554209 PONTOCEREBELLAR HYPOPLASIA, TYPE 8 0.2 0 GeneticVariation CLINVAR 340665 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 umls:C3554246 FOCAL FACIAL DERMAL DYSPLASIA 4 0.2 0 GeneticVariation CLINVAR 1174 AP1S1 adaptor-related protein complex 1, sigma 1 subunit umls:C1836330 Erythrokeratodermia Variabilis 3 0.2 0 GeneticVariation CLINVAR 440193 CCDC88C coiled-coil domain containing 88C umls:C0020255 Hydrocephalus 0.2 0 GeneticVariation CLINVAR 1282 COL4A1 collagen, type IV, alpha 1 umls:C0019191 Hepatitis, Infectious Canine 0.2 0 GeneticVariation CLINVAR 442186 OR2J3 olfactory receptor, family 2, subfamily J, member 3 umls:C3554456 C3HEX, ABILITY TO SMELL 0.2 0 GeneticVariation CLINVAR 1977 EIF4E eukaryotic translation initiation factor 4E umls:C3554495 AUTISM, SUSCEPTIBILITY TO, 19 0.2 0 GeneticVariation CLINVAR 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 umls:C3554519 COWDEN SYNDROME 6 0.2 0 GeneticVariation CLINVAR 100144748 KLLN killin, p53-regulated DNA replication inhibitor umls:C3554517 COWDEN SYNDROME 4 0.2 0 GeneticVariation CLINVAR 9860 LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 umls:C3554520 UROFACIAL SYNDROME 2 0.2 0 GeneticVariation CLINVAR 3098 HK1 hexokinase 1 umls:C1854449 Neuropathy, hereditary motor and sensory, Russe type 0.2 0 GeneticVariation CLINVAR 7097 TLR2 toll-like receptor 2 umls:C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 5376 PMP22 peripheral myelin protein 22 umls:C1843225 Charcot-Marie-Tooth disease, Type 2E 0.2 0 GeneticVariation CLINVAR 7012 TERC telomerase RNA component umls:C0024790 Paroxysmal nocturnal hemoglobinuria 0.2 0 GeneticVariation CLINVAR 7015 TERT telomerase reverse transcriptase umls:C3554574 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 0.2 0 GeneticVariation CLINVAR 55714 TENM3 teneurin transmembrane protein 3 umls:C3554592 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 0.2 0 GeneticVariation CLINVAR 152926 PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K umls:C3554575 MAPLE SYRUP URINE DISEASE, MILD VARIANT 0.2 0 GeneticVariation CLINVAR 7098 TLR3 toll-like receptor 3 umls:C1836230 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 0.2 0 GeneticVariation CLINVAR 83938 C10orf11 chromosome 10 open reading frame 11 umls:C3808786 ALBINISM, OCULOCUTANEOUS, TYPE VII 0.2 0 GeneticVariation CLINVAR 3912 LAMB1 laminin, beta 1 umls:C3554657 LISSENCEPHALY 5 0.2 0 GeneticVariation CLINVAR 4625 MYH7 myosin, heavy chain 7, cardiac muscle, beta umls:C0264789 Familial cardiomyopathy 0.2 0 GeneticVariation CLINVAR 7466 WFS1 Wolfram syndrome 1 (wolframin) umls:C0236038 Congenital hearing disorder 0.2 0 GeneticVariation CLINVAR 10804 GJB6 gap junction protein, beta 6, 30kDa umls:C0236038 Congenital hearing disorder 0.2 0 GeneticVariation CLINVAR 51168 MYO15A myosin XVA umls:C0236038 Congenital hearing disorder 0.2 0 GeneticVariation CLINVAR 64699 TMPRSS3 transmembrane protease, serine 3 umls:C0236038 Congenital hearing disorder 0.2 0 GeneticVariation CLINVAR 7273 TTN titin umls:C0410204 Myopathy, Centronuclear, Autosomal Recessive 0.2 0 GeneticVariation CLINVAR 117531 TMC1 transmembrane channel-like 1 umls:C0236038 Congenital hearing disorder 0.2 0 GeneticVariation CLINVAR 125336 LOXHD1 lipoxygenase homology domains 1 umls:C0236038 Congenital hearing disorder 0.2 0 GeneticVariation CLINVAR 10083 USH1C Usher syndrome 1C (autosomal recessive, severe) umls:C0236038 Congenital hearing disorder 0.2 0 GeneticVariation CLINVAR 4000 LMNA lamin A/C umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.2 0 GeneticVariation CLINVAR 5295 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) umls:C3554689 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 84433 CARD11 caspase recruitment domain family, member 11 umls:C3554686 IMMUNODEFICIENCY 11 0.2 0 GeneticVariation CLINVAR 8777 MPDZ multiple PDZ domain protein umls:C3554691 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 0.2 0 GeneticVariation CLINVAR 7471 WNT1 wingless-type MMTV integration site family, member 1 umls:C3714945 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16 0.2 0 GeneticVariation CLINVAR 6505 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 umls:C3808913 SCHIZOPHRENIA 18 0.2 0 GeneticVariation CLINVAR 55240 STEAP3 STEAP family member 3, metalloreductase umls:C3808920 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 0.2 0 GeneticVariation CLINVAR 63924 CIDEC cell death-inducing DFFA-like effector c umls:C3808940 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 0.2 0 GeneticVariation CLINVAR 396 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha umls:C3808953 NEPHROTIC SYNDROME, TYPE 8 0.2 0 GeneticVariation CLINVAR 388588 SMIM1 small integral membrane protein 1 (Vel blood group) umls:C2745907 BLOOD GROUP, VEL SYSTEM 0.2 0 GeneticVariation CLINVAR 136371 ASB10 ankyrin repeat and SOCS box containing 10 umls:C1863926 Glaucoma 1, Open Angle, F 0.2 0 GeneticVariation CLINVAR 55768 NGLY1 N-glycanase 1 umls:C3808991 CONGENITAL DISORDER OF DEGLYCOSYLATION 0.2 0 GeneticVariation CLINVAR 204219 CERS3 ceramide synthase 3 umls:C3554349 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 0.2 0 GeneticVariation CLINVAR 8192 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit umls:C2681413 deafness, autosomal recessive 81 0.2 0 GeneticVariation CLINVAR 2077 ERF Ets2 repressor factor umls:C1833340 Synostotic Posterior Plagiocephaly 0.2 0 GeneticVariation CLINVAR 285590 SH3PXD2B SH3 and PX domains 2B umls:C1859406 Borrone Di Rocco Crovato syndrome 0.2 0 GeneticVariation CLINVAR 23509 POFUT1 protein O-fucosyltransferase 1 umls:C3809147 DOWLING-DEGOS DISEASE 2 0.2 0 GeneticVariation CLINVAR 1674 DES desmin umls:C3809137 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R 0.2 0 GeneticVariation CLINVAR 57511 COG6 component of oligomeric golgi complex 6 umls:C3809160 SHAHEEN SYNDROME 0.2 0 GeneticVariation CLINVAR 857 CAV1 caveolin 1, caveolae protein, 22kDa umls:C3809192 PULMONARY HYPERTENSION, PRIMARY, 3 0.2 0 GeneticVariation CLINVAR 9364 RAB28 RAB28, member RAS oncogene family umls:C3809299 CONE-ROD DYSTROPHY 18 0.2 0 GeneticVariation CLINVAR 5424 POLD1 polymerase (DNA directed), delta 1, catalytic subunit umls:C3715192 MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 0.2 0 GeneticVariation CLINVAR 6712 SPTBN2 spectrin, beta, non-erythrocytic 2 umls:C3809327 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 0.2 0 GeneticVariation CLINVAR 6900 CNTN2 contactin 2 (axonal) umls:C3809374 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 0.2 0 GeneticVariation CLINVAR 51604 PIGT phosphatidylinositol glycan anchor biosynthesis, class T umls:C3809369 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 0.2 0 GeneticVariation CLINVAR 10013 HDAC6 histone deacetylase 6 umls:C3275476 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA 0.2 0 GeneticVariation CLINVAR 340719 NANOS1 nanos homolog 1 (Drosophila) umls:C3809427 SPERMATOGENIC FAILURE 12 0.2 0 GeneticVariation CLINVAR 284086 NEK8 NIMA-related kinase 8 umls:C3809434 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 0.2 0 GeneticVariation CLINVAR 2982 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 umls:C1838021 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 (finding) 0.2 0 GeneticVariation CLINVAR 10574 CCT7 chaperonin containing TCP1, subunit 7 (eta) umls:C1838021 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 (finding) 0.2 0 GeneticVariation CLINVAR 4715 NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa umls:C1838979 Mitochondrial complex I deficiency 0.2 0 GeneticVariation CLINVAR 4043 LRPAP1 low density lipoprotein receptor-related protein associated protein 1 umls:C3809482 MYOPIA 23, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 4556 TRNE tRNA umls:C0917796 Optic Atrophy, Hereditary, Leber 0.2 0 GeneticVariation CLINVAR 65217 PCDH15 protocadherin-related 15 umls:C1847089 Usher Syndrome, Type IG 0.2 0 GeneticVariation CLINVAR 547 KIF1A kinesin family member 1A umls:C2752089 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA 0.2 0 GeneticVariation CLINVAR 667 DST dystonin umls:C3809470 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 0.2 0 GeneticVariation CLINVAR 79853 TM4SF20 transmembrane 4 L six family member 20 umls:C3809483 SPECIFIC LANGUAGE IMPAIRMENT 5 0.2 0 GeneticVariation CLINVAR 23405 DICER1 dicer 1, ribonuclease type III umls:C1867234 Rhabdomyosarcoma, Embryonal, 2 0.2 0 GeneticVariation CLINVAR 1674 DES desmin umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.2 0 GeneticVariation CLINVAR 23334 SZT2 seizure threshold 2 homolog (mouse) umls:C3809624 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 0.2 0 GeneticVariation CLINVAR 3784 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 umls:C1963067 Atrial Fibrillation Adverse Event 0.2 0 GeneticVariation CLINVAR 3757 KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 umls:C0349788 Arrhythmogenic Right Ventricular Dysplasia 0.2 0 GeneticVariation CLINVAR 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C1141890 Congenital long QT syndrome 0.2 0 GeneticVariation CLINVAR 3759 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 umls:C0237314 Irregular heart beat 0.2 0 GeneticVariation CLINVAR 9992 KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 umls:C1963067 Atrial Fibrillation Adverse Event 0.2 0 GeneticVariation CLINVAR 9992 KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 umls:C2732979 Acquired long QT syndrome 0.2 0 GeneticVariation CLINVAR 6331 SCN5A sodium channel, voltage gated, type V alpha subunit umls:C2748542 Cardiac Conduction Defect, Nonspecific 0.2 0 GeneticVariation CLINVAR 4763 NF1 neurofibromin 1 umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 10134 BCAP31 B-cell receptor-associated protein 31 umls:C1845408 Contiguous Abcd1/Dxs1375e Deletion Syndrome 0.2 0 GeneticVariation CLINVAR 80816 ASXL3 additional sex combs like transcriptional regulator 3 umls:C3809650 BAINBRIDGE-ROPERS SYNDROME 0.2 0 GeneticVariation CLINVAR 11280 SCN11A sodium channel, voltage gated, type XI alpha subunit umls:C0025202 Melanoma 0.2 0 GeneticVariation CLINVAR 1641 DCX doublecortin umls:C0025202 Melanoma 0.2 0 GeneticVariation CLINVAR 288 ANK3 ankyrin 3, node of Ranvier (ankyrin G) umls:C3809672 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 0.2 0 GeneticVariation CLINVAR 6674 SPAG1 sperm associated antigen 1 umls:C3809706 CILIARY DYSKINESIA, PRIMARY, 28 0.2 0 GeneticVariation CLINVAR 6674 SPAG1 sperm associated antigen 1 umls:C3554306 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 0.2 0 GeneticVariation CLINVAR 85478 CCDC65 coiled-coil domain containing 65 umls:C3809701 CILIARY DYSKINESIA, PRIMARY, 27 0.2 0 GeneticVariation CLINVAR 56683 C21orf59 chromosome 21 open reading frame 59 umls:C3809684 CILIARY DYSKINESIA, PRIMARY, 26 0.2 0 GeneticVariation CLINVAR 340533 KIAA2022 KIAA2022 umls:C3806730 MENTAL RETARDATION, X-LINKED 98 0.2 0 GeneticVariation CLINVAR 10159 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 umls:C3806722 PARKINSONISM WITH SPASTICITY, X-LINKED 0.2 0 GeneticVariation CLINVAR 9829 DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 umls:C3809811 PARKINSON DISEASE 19, JUVENILE-ONSET 0.2 0 GeneticVariation CLINVAR 10472 ZBTB18 zinc finger and BTB domain containing 18 umls:C2676727 Chromosome 1q43-Q44 Deletion Syndrome 0.2 0 GeneticVariation CLINVAR 84189 SLITRK6 SLIT and NTRK-like family, member 6 umls:C1857342 Deafness, Cochlear, with Myopia and Intellectual Impairment 0.2 0 GeneticVariation CLINVAR 163183 SYNE4 spectrin repeat containing, nuclear envelope family member 4 umls:C3147083 DEAFNESS, AUTOSOMAL RECESSIVE 76 0.2 0 GeneticVariation CLINVAR 8328 GFI1B growth factor independent 1B transcription repressor umls:C1861194 Thrombasthenia-Thrombocytopenia, Hereditary 0.2 0 GeneticVariation CLINVAR 5079 PAX5 paired box 5 umls:C3809874 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 0.2 0 GeneticVariation CLINVAR 6138 RPL15 ribosomal protein L15 umls:C3809888 DIAMOND-BLACKFAN ANEMIA 12 0.2 0 GeneticVariation CLINVAR 54551 MAGEL2 melanoma antigen family L2 umls:C3809877 PRADER-WILLI-LIKE SYNDROME 0.2 0 GeneticVariation CLINVAR 23443 SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 umls:C3809910 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 0.2 0 GeneticVariation CLINVAR 5580 PRKCD protein kinase C, delta umls:C3809928 IMMUNODEFICIENCY, COMMON VARIABLE, 9 0.2 0 GeneticVariation CLINVAR 4751 NEK2 NIMA-related kinase 2 umls:C3809954 RETINITIS PIGMENTOSA 67 0.2 0 GeneticVariation CLINVAR 4791 NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) umls:C3809991 IMMUNODEFICIENCY, COMMON VARIABLE, 10 0.2 0 GeneticVariation CLINVAR 119559 SFXN4 sideroflexin 4 umls:C3810001 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 0.2 0 GeneticVariation CLINVAR 629 CFB complement factor B umls:C3809950 COMPLEMENT FACTOR B DEFICIENCY 0.2 0 GeneticVariation CLINVAR 7466 WFS1 Wolfram syndrome 1 (wolframin) umls:C1861826 Cataract, Nuclear Total 0.2 0 GeneticVariation CLINVAR 2512 FTL ferritin, light polypeptide umls:C3810090 L-FERRITIN DEFICIENCY 0.2 0 GeneticVariation CLINVAR 805 CALM2 calmodulin 2 (phosphorylase kinase, delta) umls:C0035828 Romano-Ward Syndrome 0.2 0 GeneticVariation CLINVAR 121391 KRT74 keratin 74, type II umls:C1865951 Ectodermal Dysplasia, Pure Hair-Nail Type 0.2 0 GeneticVariation CLINVAR 375611 SLC26A5 solute carrier family 26 (anion exchanger), member 5 umls:C3151230 DEAFNESS, AUTOSOMAL RECESSIVE 61 0.2 0 GeneticVariation CLINVAR 6911 TBX6 T-box 6 umls:C1852521 Spondylocostal Dysostosis 4, Autosomal Dominant 0.2 0 GeneticVariation CLINVAR 79848 CSPP1 centrosome and spindle pole associated protein 1 umls:C3810212 JOUBERT SYNDROME 21 0.2 0 GeneticVariation CLINVAR 11133 KPTN kaptin (actin binding protein) umls:C3810225 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 0.2 0 GeneticVariation CLINVAR 6609 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal umls:C1866282 Ceroid Lipofuscinosis, Neuronal, 6 0.2 0 GeneticVariation CLINVAR 5147 PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta umls:C3810278 JOUBERT SYNDROME 22 0.2 0 GeneticVariation CLINVAR 22978 NT5C2 5'-nucleotidase, cytosolic II umls:C2680447 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 10367 MICU1 mitochondrial calcium uptake 1 umls:C3810285 MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 0.2 0 GeneticVariation CLINVAR 271 AMPD2 adenosine monophosphate deaminase 2 umls:C3810295 SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 23204 ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 umls:C3810294 SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 57822 GRHL3 grainyhead-like 3 (Drosophila) umls:C1847604 Van der Woude syndrome 2 0.2 0 GeneticVariation CLINVAR 3551 IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta umls:C3810043 IMMUNODEFICIENCY 15 0.2 0 GeneticVariation CLINVAR 8710 SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7 umls:C3810072 PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE 0.2 0 GeneticVariation CLINVAR 201595 STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic) umls:C3810067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix 0.2 0 GeneticVariation CLINVAR 55180 LINS lines homolog (Drosophila) umls:C3280538 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 0.2 0 GeneticVariation CLINVAR 84984 CEP19 centrosomal protein 19kDa umls:C3810324 MORBID OBESITY AND SPERMATOGENIC FAILURE 0.2 0 GeneticVariation CLINVAR 9711 KIAA0226 KIAA0226 umls:C3810326 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 0.2 0 GeneticVariation CLINVAR 10413 YAP1 Yes-associated protein 1 umls:C1852750 Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation 0.2 0 GeneticVariation CLINVAR 146167 SLC38A8 solute carrier family 38, member 8 umls:C1836603 Foveal Hypoplasia and Anterior Segment Dysgenesis 0.2 0 GeneticVariation CLINVAR 375748 ERCC6L2 excision repair cross-complementation group 6-like 2 umls:C3810350 BONE MARROW FAILURE SYNDROME 2 0.2 0 GeneticVariation CLINVAR 10734 STAG3 stromal antigen 3 umls:C3810367 PREMATURE OVARIAN FAILURE 8 0.2 0 GeneticVariation CLINVAR 26281 FGF20 fibroblast growth factor 20 umls:C3810359 RENAL HYPODYSPLASIA/APLASIA 2 0.2 0 GeneticVariation CLINVAR 56983 POGLUT1 protein O-glucosyltransferase 1 umls:C3810313 DOWLING-DEGOS DISEASE 4 0.2 0 GeneticVariation CLINVAR 79728 PALB2 partner and localizer of BRCA2 umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 79728 PALB2 partner and localizer of BRCA2 umls:C3150547 PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 0.2 0 GeneticVariation CLINVAR 84627 ZNF469 zinc finger protein 469 umls:C1835677 Keratoconus 1 0.2 0 GeneticVariation CLINVAR 9289 GPR56 G protein-coupled receptor 56 umls:C3810405 POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE 0.2 0 GeneticVariation CLINVAR 2982 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 umls:C3810403 MOYAMOYA DISEASE 6 WITH ACHALASIA 0.2 0 GeneticVariation CLINVAR 55209 SETD5 SET domain containing 5 umls:C3810406 MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 0.2 0 GeneticVariation CLINVAR 1763 DNA2 DNA replication helicase/nuclease 2 umls:C0342573 Pituitary dwarfism 1 0.2 0 GeneticVariation CLINVAR 53335 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) umls:C1969758 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5 0.2 0 GeneticVariation CLINVAR 641 BLM Bloom syndrome, RecQ helicase-like umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 2176 FANCC Fanconi anemia, complementation group C umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 580 BARD1 BRCA1 associated RING domain 1 umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 5395 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 4595 MUTYH mutY homolog umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 4683 NBN nibrin umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 7516 XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2 umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 84142 FAM175A family with sequence similarity 175, member A umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 7139 TNNT2 troponin T type 2 (cardiac) umls:C2750995 Cardiomyopathy, Dilated, 1DD 0.2 0 GeneticVariation CLINVAR 3178 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 umls:C0393665 Multiple Sclerosis, Chronic Progressive 0.2 0 GeneticVariation CLINVAR 3178 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 umls:C0751967 Multiple Sclerosis, Relapsing-Remitting 0.2 0 GeneticVariation CLINVAR 1778 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 umls:C0027888 Hereditary Sensory and Motor Neuropathy 0.2 0 GeneticVariation CLINVAR 4851 NOTCH1 notch 1 umls:C0018798 Heart Defects, Congenital 0.2 0 GeneticVariation CLINVAR 4519 CYTB cytochrome b umls:C0346153 Breast Cancer, Familial 0.2 0 GeneticVariation CLINVAR 84908 FAM136A family with sequence similarity 136, member A umls:C0025281 Meniere Disease 0.2 0 GeneticVariation CLINVAR 1837 DTNA dystrobrevin, alpha umls:C0025281 Meniere Disease 0.2 0 GeneticVariation CLINVAR 6389 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 55654 TMEM127 transmembrane protein 127 umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 6794 STK11 serine/threonine kinase 11 umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 6392 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein umls:C0027672 Neoplastic Syndromes, Hereditary 0.2 0 GeneticVariation CLINVAR 7399 USH2A Usher syndrome 2A (autosomal recessive, mild) umls:C0339527 Leber Congenital Amaurosis 0.2 0 GeneticVariation CLINVAR 4519 CYTB cytochrome b umls:C0919267 Ovarian Neoplasms 0.2 0 GeneticVariation CLINVAR 4576 TRNT tRNA umls:C0919267 Ovarian Neoplasms 0.2 0 GeneticVariation CLINVAR 4576 TRNT tRNA umls:C0346153 Breast Cancer, Familial 0.2 0 GeneticVariation CLINVAR 4556 TRNE tRNA umls:C0346153 Breast Cancer, Familial 0.2 0 GeneticVariation CLINVAR 57158 JPH2 junctophilin 2 umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.2 0 GeneticVariation CLINVAR 84665 MYPN myopalladin umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.2 0 GeneticVariation CLINVAR 9639 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 umls:C0007959 Charcot-Marie-Tooth Disease 0.2 0 GeneticVariation CLINVAR 23328 SASH1 SAM and SH3 domain containing 1 umls:C0002170 Alopecia 0.2 0 GeneticVariation CLINVAR 55699 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial umls:C0023264 Leigh Disease 0.2 0 GeneticVariation CLINVAR 1302 COL11A2 collagen, type XI, alpha 2 umls:C3711374 Nonsyndromic Deafness 0.2 0 GeneticVariation CLINVAR 1293 COL6A3 collagen, type VI, alpha 3 umls:C0699743 Congenital muscular dystrophy 0.2 0 GeneticVariation CLINVAR 88 ACTN2 actinin, alpha 2 umls:C0949658 Cardiomyopathy, Hypertrophic, Familial 0.2 0 GeneticVariation CLINVAR 6878 TAF6 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa umls:C0270972 De Lange Syndrome 0.2 0 GeneticVariation CLINVAR 4297 KMT2A lysine (K)-specific methyltransferase 2A umls:C0270972 De Lange Syndrome 0.2 0 GeneticVariation CLINVAR 8243 SMC1A structural maintenance of chromosomes 1A umls:C1854630 Growth Deficiency and Mental Retardation with Facial Dysmorphism 0.2 0 GeneticVariation CLINVAR