TissGeneSummary for KL |
Gene summary |
Basic gene information | Gene symbol | KL |
Gene name | klotho | |
Synonyms | - | |
Cytomap | UCSC genome browser: 13q12 | |
Type of gene | protein-coding | |
RefGenes | NM_004795.3, NM_153683.2, | |
Description | - | |
Modification date | 20141222 | |
dbXrefs | MIM : 604824 | |
HGNC : HGNC | ||
Ensembl : ENSG00000133116 | ||
HPRD : 05316 | ||
Vega : OTTHUMG00000017408 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_KL | |
BioGPS: 9365 | ||
Pathway | NCI Pathway Interaction Database: KL | |
KEGG: KL | ||
REACTOME: KL | ||
Pathway Commons: KL | ||
Context | iHOP: KL | |
ligand binding site mutation search in PubMed: KL | ||
UCL Cancer Institute: KL | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Kidney | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICH | |
Reference showing the relevant tissue of KL | ||
Description by TissGene annotations | Cancer gene |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID |
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TissGeneExp for KL |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
STAD | -0.681115592 | 0.770240658 | -1.45135625 | 7.85E-06 | 9.44E-05 |
COAD | -1.632540351 | 0.331401956 | -1.963942308 | 1.28E-07 | 8.85E-07 |
BRCA | -0.881992511 | 1.792075033 | -2.674067544 | 6.91E-50 | 4.45E-48 |
LUSC | -1.258555359 | 2.453099543 | -3.711654902 | 9.71E-29 | 3.53E-27 |
LUAD | -0.499483588 | 2.658992275 | -3.158475862 | 1.66E-33 | 3.38E-31 |
KIRC | 4.893097255 | 6.183445866 | -1.290348611 | 6.56E-11 | 2.39E-10 |
THCA | 1.046084355 | -0.270722424 | 1.31680678 | 2.01E-11 | 1.46E-10 |
KICH | 0.278413033 | 5.400805033 | -5.122392 | 7.08E-15 | 1.41E-13 |
ESCA | -0.920965876 | 2.068761397 | -2.989727273 | 0.00064 | 0.010701955 |
BLCA | -1.541253914 | 0.338651349 | -1.879905263 | 0.000611 | 0.004734718 |
KIRP | 4.186043783 | 6.254165658 | -2.068121875 | 0.00028 | 0.000873102 |
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TissGene-miRNA for KL |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for KL |
TissGeneSNV for KL |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.P520S | SKCM | 4 |
p.S471I | UCEC | 2 |
p.S916L | SKCM | 2 |
p.P867L | SKCM | 2 |
p.G362E | SKCM | 2 |
p.Q229R | PRAD | 1 |
p.H275Y | HNSC | 1 |
p.F133L | HNSC | 1 |
p.A268V | PAAD | 1 |
p.T538S | BRCA | 1 |
p.E414K | SKCM | 1 |
p.G878E | SKCM | 1 |
p.D310N | SKCM | 1 |
p.L222F | SKCM | 1 |
p.G228S | STAD | 1 |
p.Q743* | SKCM | 1 |
p.V563I | SKCM | 1 |
p.E625K | SKCM | 1 |
p.F496L | GBM | 1 |
p.P964Q | STAD | 1 |
p.P338L | SKCM | 1 |
p.S998C | BRCA | 1 |
p.W638C | LUAD | 1 |
p.R671* | UCEC | 1 |
p.V830M | KIRC | 1 |
p.R620C | READ | 1 |
p.F367V | STAD | 1 |
p.Y470H | COAD | 1 |
p.R1009K | BLCA | 1 |
p.K424N | BLCA | 1 |
p.V331L | THYM | 1 |
p.R781I | READ | 1 |
p.G325C | STAD | 1 |
p.I257M | LUSC | 1 |
p.Q317E | BLCA | 1 |
p.G926V | HNSC | 1 |
p.E587K | SKCM | 1 |
p.Q934* | SKCM | 1 |
p.M461I | SKCM | 1 |
p.R306Q | SKCM | 1 |
p.G206D | STAD | 1 |
p.I947S | READ | 1 |
p.R395S | ESCA | 1 |
p.S609F | SKCM | 1 |
p.P604H | UCEC | 1 |
p.R671* | SKCM | 1 |
p.L813F | SKCM | 1 |
p.Q378* | SKCM | 1 |
p.G646R | SKCM | 1 |
p.R210C | STAD | 1 |
p.D427N | SARC | 1 |
p.F935I | LUSC | 1 |
p.Y433C | STAD | 1 |
p.D426N | UCEC | 1 |
p.G768R | BRCA | 1 |
p.D103N | LUSC | 1 |
p.H943Q | COAD | 1 |
p.M941I | SKCM | 1 |
p.E502K | CESC | 1 |
p.E354K | STAD | 1 |
p.P338S | SKCM | 1 |
p.A922T | UCEC | 1 |
p.G526R | SKCM | 1 |
p.R979* | SKCM | 1 |
p.R252C | STAD | 1 |
p.R961T | BRCA | 1 |
p.D135N | STAD | 1 |
p.R929H | LGG | 1 |
p.Q610K | PRAD | 1 |
p.V830E | KIRC | 1 |
p.L489F | LUAD | 1 |
p.T686M | PAAD | 1 |
p.M431V | STAD | 1 |
p.F861S | UCEC | 1 |
p.P923L | LGG | 1 |
p.G449E | MESO | 1 |
p.Q230H | COAD | 1 |
p.Q675* | SKCM | 1 |
p.G724R | STAD | 1 |
p.L109V | HNSC | 1 |
p.W711C | SKCM | 1 |
p.A729V | SKCM | 1 |
p.G463D | SKCM | 1 |
p.P507S | SKCM | 1 |
p.A721S | UCEC | 1 |
p.A636T | LUAD | 1 |
p.H193Q | HNSC | 1 |
p.K1006I | SKCM | 1 |
p.P740H | SKCM | 1 |
p.Q579K | LUAD | 1 |
p.R174W | STAD | 1 |
p.R693K | SKCM | 1 |
p.E819* | SKCM | 1 |
p.D535H | LUAD | 1 |
p.E829K | SKCM | 1 |
p.V830E | LUAD | 1 |
p.Q722H | UCEC | 1 |
p.R594C | COAD | 1 |
p.R199C | STAD | 1 |
p.S312N | UCEC | 1 |
p.R671Q | SKCM | 1 |
p.R979Q | UCEC | 1 |
p.E168D | LUAD | 1 |
p.Q388* | LIHC | 1 |
p.V450M | STAD | 1 |
p.T968P | LUAD | 1 |
p.R395S | LUAD | 1 |
p.A583T | LGG | 1 |
p.P305S | UCEC | 1 |
p.G247S | LIHC | 1 |
p.P520L | SKCM | 1 |
p.D919N | COAD | 1 |
p.R671X | SKCM | 1 |
p.A652T | BLCA | 1 |
p.R175G | BLCA | 1 |
p.S319F | UCEC | 1 |
p.Y930C | COAD | 1 |
p.R568K | SKCM | 1 |
p.L785I | UCEC | 1 |
p.F523L | SKCM | 1 |
p.D535N | SKCM | 1 |
p.R671Q | BLCA | 1 |
p.I615V | BRCA | 1 |
p.L557P | SKCM | 1 |
p.G911R | TGCT | 1 |
p.S570F | SKCM | 1 |
p.A670V | KIRC | 1 |
p.K424N | THYM | 1 |
p.D820H | LUSC | 1 |
p.V590I | KIRC | 1 |
p.M431I | ESCA | 1 |
p.I947V | LIHC | 1 |
p.Q378* | LUAD | 1 |
p.E625K | UCEC | 1 |
p.Y571C | BRCA | 1 |
p.Q743X | SKCM | 1 |
p.L616M | COAD | 1 |
p.P690S | SKCM | 1 |
p.E716K | SKCM | 1 |
p.D826Y | UCEC | 1 |
p.V164L | KIRP | 1 |
p.P771S | SKCM | 1 |
p.M687V | UCEC | 1 |
p.G247S | STAD | 1 |
p.G646E | SKCM | 1 |
p.L191V | HNSC | 1 |
p.E793K | SKCM | 1 |
p.E404K | SKCM | 1 |
p.M384I | BLCA | 1 |
p.E957K | HNSC | 1 |
p.E440D | CESC | 1 |
p.P97L | SKCM | 1 |
p.D365N | LUSC | 1 |
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TissGeneCNV for KL |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for KL |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
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TissGeneNet for KL |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for KL |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for KL |
TissGeneDrug for KL |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for KL |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C1561643 | Chronic Kidney Diseases | 19 | BeFree |
umls:C0231341 | Premature aging syndrome | 15 | BeFree,CTD_human |
umls:C0085681 | Hyperphosphatemia (disorder) | 12 | BeFree,CTD_human |
umls:C0003850 | Arteriosclerosis | 11 | BeFree,CTD_human |
umls:C0022661 | Kidney Failure, Chronic | 9 | BeFree,GAD,LHGDN,RGD |
umls:C1956346 | Coronary Artery Disease | 9 | BeFree,CTD_human |
umls:C0007222 | Cardiovascular Diseases | 7 | BeFree,GAD |
umls:C0010054 | Coronary Arteriosclerosis | 7 | BeFree,GAD |
umls:C0403447 | Chronic Kidney Insufficiency | 7 | BeFree,RGD |
umls:C0004153 | Atherosclerosis | 6 | BeFree,GAD,LHGDN |
umls:C0010068 | Coronary heart disease | 6 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 5 | BeFree,GAD |
umls:C0020538 | Hypertensive disease | 5 | BeFree,GAD,RGD |
umls:C0029456 | Osteoporosis | 5 | BeFree,CTD_human |
umls:C0678222 | Breast Carcinoma | 5 | BeFree |
umls:C0856169 | Endothelial dysfunction | 5 | BeFree |
umls:C0002895 | Anemia, Sickle Cell | 4 | BeFree |
umls:C0006663 | Calcinosis | 4 | BeFree,CTD_human,GAD |
umls:C0020437 | Hypercalcemia | 4 | BeFree,CTD_human,GAD |
umls:C0021368 | Inflammation | 4 | GAD |
umls:C0022116 | Ischemia | 4 | BeFree |
umls:C0022660 | Kidney Failure, Acute | 4 | BeFree |
umls:C0035078 | Kidney Failure | 4 | BeFree |
umls:C0151526 | Premature Birth | 4 | GAD |
umls:C0007847 | Malignant tumor of cervix | 3 | BeFree |
umls:C0022658 | Kidney Diseases | 3 | BeFree,CTD_human |
umls:C0029408 | Degenerative polyarthritis | 3 | BeFree,GAD,LHGDN |
umls:C0029925 | Ovarian Carcinoma | 3 | BeFree |
umls:C0032002 | Pituitary Diseases | 3 | BeFree |
umls:C0034067 | Pulmonary Emphysema | 3 | BeFree |
umls:C0151650 | Renal fibrosis | 3 | BeFree |
umls:C0242379 | Malignant neoplasm of lung | 3 | BeFree |
umls:C0302592 | Cervix carcinoma | 3 | BeFree |
umls:C0596263 | Carcinogenesis | 3 | BeFree |
umls:C0684249 | Carcinoma of lung | 3 | BeFree |
umls:C0948008 | Ischemic stroke | 3 | BeFree,GAD |
umls:C1140680 | Malignant neoplasm of ovary | 3 | BeFree |
umls:C2239176 | Liver carcinoma | 3 | BeFree |
umls:C3272363 | Ischemic Cerebrovascular Accident | 3 | BeFree |
umls:C3536984 | Vitamin D-Resistant Rickets, X-Linked | 3 | BeFree |
umls:C0001430 | Adenoma | 2 | BeFree |
umls:C0003873 | Rheumatoid Arthritis | 2 | BeFree |
umls:C0005940 | Bone Diseases | 2 | BeFree |
umls:C0009402 | Colorectal Carcinoma | 2 | BeFree |
umls:C0011847 | Diabetes | 2 | BeFree |
umls:C0011849 | Diabetes Mellitus | 2 | BeFree |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | BeFree,RGD |
umls:C0011881 | Diabetic Nephropathy | 2 | BeFree,RGD |
umls:C0019829 | Hodgkin Disease | 2 | BeFree |
umls:C0020179 | Huntington Disease | 2 | BeFree |
umls:C0020503 | Hyperparathyroidism, Secondary | 2 | BeFree,RGD |
umls:C0027627 | Neoplasm Metastasis | 2 | BeFree |
umls:C0028754 | Obesity | 2 | BeFree |
umls:C0033117 | Priapism | 2 | BeFree,GAD |
umls:C0037274 | Dermatologic disorders | 2 | CTD_human,GAD |
umls:C0038454 | Cerebrovascular accident | 2 | GAD |
umls:C0156259 | Hypertrophy of kidney | 2 | BeFree |
umls:C0346647 | Malignant neoplasm of pancreas | 2 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 2 | BeFree |
umls:C0524620 | Metabolic Syndrome X | 2 | BeFree,RGD |
umls:C0524851 | Neurodegenerative Disorders | 2 | BeFree |
umls:C0600139 | Prostate carcinoma | 2 | BeFree |
umls:C0677886 | Epithelial ovarian cancer | 2 | BeFree |
umls:C1458155 | Mammary Neoplasms | 2 | BeFree,LHGDN |
umls:C1527249 | Colorectal Cancer | 2 | BeFree |
umls:C1565489 | Renal Insufficiency | 2 | BeFree,RGD |
umls:C2316810 | Chronic kidney disease stage 5 | 2 | BeFree |
umls:C0001206 | Acromegaly | 1 | BeFree |
umls:C0002395 | Alzheimer's Disease | 1 | BeFree |
umls:C0002963 | Angina Pectoris, Variant | 1 | BeFree |
umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
umls:C0007134 | Renal Cell Carcinoma | 1 | BeFree |
umls:C0009241 | Cognition Disorders | 1 | BeFree |
umls:C0009319 | Colitis | 1 | BeFree |
umls:C0009782 | Connective Tissue Diseases | 1 | GAD |
umls:C0011175 | Dehydration | 1 | BeFree |
umls:C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human |
umls:C0015302 | External exotoses | 1 | BeFree |
umls:C0015929 | Fetal Diseases | 1 | GAD |
umls:C0020438 | Hypercalciuria | 1 | GAD |
umls:C0020459 | Hyperinsulinism | 1 | BeFree |
umls:C0020473 | Hyperlipidemia | 1 | RGD |
umls:C0021359 | Infertility | 1 | CTD_human |
umls:C0022650 | Kidney Calculi | 1 | BeFree |
umls:C0023223 | Leg Ulcer | 1 | BeFree |
umls:C0023467 | Leukemia, Myelocytic, Acute | 1 | BeFree |
umls:C0023890 | Liver Cirrhosis | 1 | BeFree |
umls:C0023903 | Liver neoplasms | 1 | BeFree |
umls:C0025202 | melanoma | 1 | BeFree |
umls:C0025517 | Metabolic Diseases | 1 | BeFree |
umls:C0026769 | Multiple Sclerosis | 1 | BeFree |
umls:C0026857 | Musculoskeletal Diseases | 1 | GAD |
umls:C0027721 | Lipoid nephrosis | 1 | BeFree |
umls:C0029445 | Bone necrosis | 1 | LHGDN |
umls:C0030517 | Parathyroid Diseases | 1 | BeFree |
umls:C0032964 | Pregnancy Complications, Hematologic | 1 | GAD |
umls:C0033626 | Protein Deficiency | 1 | BeFree |
umls:C0035334 | Retinitis Pigmentosa | 1 | RGD |
umls:C0038019 | Spondylosis | 1 | BeFree |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0041956 | Ureteral obstruction | 1 | BeFree |
umls:C0085413 | Polycystic Kidney, Autosomal Dominant | 1 | BeFree |
umls:C0085580 | Essential Hypertension | 1 | BeFree |
umls:C0149721 | Left Ventricular Hypertrophy | 1 | BeFree |
umls:C0149925 | Small cell carcinoma of lung | 1 | BeFree |
umls:C0149983 | Lumbar spondylosis | 1 | GAD |
umls:C0151744 | Myocardial Ischemia | 1 | BeFree |
umls:C0221002 | Hyperparathyroidism, Primary | 1 | BeFree,LHGDN |
umls:C0233794 | Memory impairment | 1 | GAD |
umls:C0235974 | Pancreatic carcinoma | 1 | BeFree |
umls:C0235989 | Renal interstitial fibrosis | 1 | BeFree |
umls:C0242231 | Coronary Stenosis | 1 | BeFree,GAD |
umls:C0260662 | Hearing problem | 1 | BeFree |
umls:C0262587 | Parathyroid Adenoma | 1 | BeFree |
umls:C0263628 | Tumoral calcinosis | 1 | BeFree |
umls:C0263746 | Osteoarthritis of the hand | 1 | BeFree |
umls:C0281361 | Adenocarcinoma of pancreas | 1 | BeFree |
umls:C0282201 | Phosphate Diabetes | 1 | BeFree |
umls:C0334359 | Papillary serous cystadenocarcinoma | 1 | BeFree |
umls:C0338656 | Impaired cognition | 1 | BeFree |
umls:C0346302 | Growth Hormone-Secreting Pituitary Adenoma | 1 | BeFree |
umls:C0409957 | Osteoarthritis of distal interphalangeal joint | 1 | BeFree |
umls:C0409959 | Osteoarthritis, Knee | 1 | BeFree,GAD,LHGDN |
umls:C0595916 | Toxic nephropathy | 1 | BeFree |
umls:C0699790 | Colon Carcinoma | 1 | BeFree |
umls:C0729233 | Dissecting aneurysm of the thoracic aorta | 1 | BeFree |
umls:C0733682 | Hypophosphatemic Rickets, X-Linked Dominant | 1 | BeFree |
umls:C0878544 | Cardiomyopathies | 1 | GAD |
umls:C0920646 | Renal ischaemia | 1 | BeFree |
umls:C0947751 | Vascular inflammations | 1 | BeFree |
umls:C0948089 | Acute Coronary Syndrome | 1 | GAD |
umls:C1260873 | Aortic valve disorder | 1 | BeFree |
umls:C1265996 | Large cell neuroendocrine carcinoma | 1 | BeFree |
umls:C1272641 | Systemic arterial pressure | 1 | GAD |
umls:C1332347 | Atypical Ductal Breast Hyperplasia | 1 | BeFree |
umls:C1334274 | Invasive Carcinoma | 1 | BeFree |
umls:C1334363 | Large Cell Lung Neuroendocrine Carcinoma | 1 | BeFree |
umls:C1335177 | Ovarian Serous Adenocarcinoma | 1 | BeFree |
umls:C1442839 | Hypervitaminosis D | 1 | BeFree |
umls:C1512409 | Hepatocarcinogenesis | 1 | BeFree |
umls:C1704320 | Glomerulonephritis, Minimal Change | 1 | BeFree |
umls:C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | 1 | BeFree |
umls:C1876187 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | 1 | CTD_human,ORPHANET,UNIPROT |
umls:C1956089 | Osteophyte | 1 | BeFree |
umls:C1963167 | Memory Impairment Adverse Event | 1 | GAD |
umls:C2242703 | Cardio-Renal Syndrome | 1 | BeFree |
umls:C3540852 | Rickets, X-Linked Hypophosphatemic | 1 | BeFree |
umls:C3714514 | Infection | 1 | GAD |
umls:C1840169 | CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO | 0 | CLINVAR |
umls:C1851718 | Emphysema, Hereditary Pulmonary | 0 | MGD |