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| TissGeneSummary for ADAMTS13 |
 Gene summary |
| Basic gene information | Gene symbol | ADAMTS13 |
| Gene name | ADAM metallopeptidase with thrombospondin type 1 motif, 13 | |
| Synonyms | ADAM-TS13|ADAMTS-13|C9orf8|VWFCP|vWF-CP | |
| Cytomap | UCSC genome browser: 9q34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_139025.4, NM_139026.4,NM_139027.4,NR_024514.2,NM_139028.2, | |
| Description | A disintegrin and metalloproteinase with thrombospondin motifs 13a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13vWF-cleaving proteasevon Willebrand factor-cleaving protease | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604134 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000160323 | ||
| HPRD : 04994 | ||
| Vega : OTTHUMG00000020876 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADAMTS13 | |
| BioGPS: 11093 | ||
| Pathway | NCI Pathway Interaction Database: ADAMTS13 | |
| KEGG: ADAMTS13 | ||
| REACTOME: ADAMTS13 | ||
| Pathway Commons: ADAMTS13 | ||
| Context | iHOP: ADAMTS13 | |
| ligand binding site mutation search in PubMed: ADAMTS13 | ||
| UCL Cancer Institute: ADAMTS13 | ||
| 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) | ColonLiverTestis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | COADLIHCTGCT | |
| Reference showing the relevant tissue of ADAMTS13 | ||
| Description by TissGene annotations | Cancer gene TissgsLTS | |
| * 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 | GO:0006508 | proteolysis | 11535495 | GO:0043171 | peptide catabolic process | 11535495 | GO:0006508 | proteolysis | 11535495 | GO:0043171 | peptide catabolic process | 11535495 |
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| TissGeneExp for ADAMTS13 |
| 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) |
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| 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) |
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| 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 |
| LIHC | 0.928134545 | 4.520008545 | -3.591874 | 1.33E-26 | 5.91E-24 |
| KIRC | -1.164086178 | -0.1069084 | -1.057177778 | 5.30E-12 | 2.12E-11 |
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| TissGene-miRNA for ADAMTS13 |
| 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 ADAMTS13 |
| TissGeneSNV for ADAMTS13 |
| 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. |
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| 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.R59H | UCEC | 1 |
| p.A382V | PAAD | 1 |
| p.R1165W | COAD | 1 |
| p.V605L | KIRP | 1 |
| p.A876T | STAD | 1 |
| p.T577N | BLCA | 1 |
| p.R660W | BRCA | 1 |
| p.V175I | UCEC | 1 |
| p.L574P | LIHC | 1 |
| p.R409Q | SKCM | 1 |
| p.P1171L | LGG | 1 |
| p.V964M | BRCA | 1 |
| p.P856S | SKCM | 1 |
| p.M609I | BLCA | 1 |
| p.E851* | UCEC | 1 |
| p.L915M | COAD | 1 |
| p.A685S | THYM | 1 |
| p.G200S | BRCA | 1 |
| p.R1123H | READ | 1 |
| p.R125W | ESCA | 1 |
| p.N434S | SKCM | 1 |
| p.Q1004* | SKCM | 1 |
| p.T874A | LUAD | 1 |
| p.E930D | SKCM | 1 |
| p.R768L | LIHC | 1 |
| p.R1000C | SKCM | 1 |
| p.Y1405H | UCEC | 1 |
| p.A481G | LUAD | 1 |
| p.D117N | LUAD | 1 |
| p.V1412I | COAD | 1 |
| p.G1403S | STAD | 1 |
| p.P694L | SKCM | 1 |
| p.P1119R | COAD | 1 |
| p.R636Q | BLCA | 1 |
| p.R312I | UCEC | 1 |
| p.M913L | PRAD | 1 |
| p.A900V | COAD | 1 |
| p.S1233C | BLCA | 1 |
| p.H485R | LIHC | 1 |
| p.R1094C | STAD | 1 |
| p.A596V | STAD | 1 |
| p.P1333S | BLCA | 1 |
| p.C1192R | UCEC | 1 |
| p.R488Q | STAD | 1 |
| p.R498H | OV | 1 |
| p.L1100I | COAD | 1 |
| p.R629T | BLCA | 1 |
| p.S150F | SKCM | 1 |
| p.D551G | ESCA | 1 |
| p.A307V | UCEC | 1 |
| p.L1068F | STAD | 1 |
| p.A1348T | STAD | 1 |
| p.F592L | STAD | 1 |
| p.E1231D | BLCA | 1 |
| p.G1045C | SKCM | 1 |
| p.M1205T | STAD | 1 |
| p.Y570* | LUSC | 1 |
| p.A1152T | COAD | 1 |
| p.R102C | COAD | 1 |
| p.R1219Q | UCEC | 1 |
| p.G512C | THYM | 1 |
| p.T1319P | SKCM | 1 |
| p.R1000C | BLCA | 1 |
| p.R972Q | HNSC | 1 |
| p.S1170P | DLBC | 1 |
| p.W1379R | LIHC | 1 |
| p.R1000H | SKCM | 1 |
| p.V1065A | UCEC | 1 |
| p.R1228C | UCEC | 1 |
| p.Q1103X | SKCM | 1 |
| p.P883Q | ESCA | 1 |
| p.R1251M | ESCA | 1 |
| p.G1347S | SKCM | 1 |
| p.C1084G | STAD | 1 |
| p.E634K | UCS | 1 |
| p.S1027I | ESCA | 1 |
| p.S292F | SKCM | 1 |
| p.Q1103* | SKCM | 1 |
| p.W365_splice | LUSC | 1 |
| p.G1101E | HNSC | 1 |
| p.W1421C | UCEC | 1 |
| p.A1335G | LUAD | 1 |
| p.P671Q | PRAD | 1 |
| p.V964M | UCEC | 1 |
| p.P881L | THYM | 1 |
| p.E663K | COAD | 1 |
| p.P939S | COAD | 1 |
| p.C548Y | ACC | 1 |
| p.D217H | LUAD | 1 |
| p.H870L | LUAD | 1 |
| p.A1053V | COAD | 1 |
| p.R1402Q | PRAD | 1 |
| p.R644H | UCEC | 1 |
| p.R498C | THYM | 1 |
| p.G1349V | LUAD | 1 |
| p.G419R | ESCA | 1 |
| p.R1247Q | UCEC | 1 |
| p.R73S | THYM | 1 |
| p.T135I | KIRC | 1 |
| p.L1283R | SKCM | 1 |
| p.S1381L | HNSC | 1 |
| p.R1361W | LGG | 1 |
| p.L762M | STAD | 1 |
| p.Q1419* | BLCA | 1 |
| p.D217N | MESO | 1 |
| p.P846S | LIHC | 1 |
| p.P734R | ESCA | 1 |
| p.A422T | PRAD | 1 |
| p.R514W | SKCM | 1 |
| p.R954P | KIRC | 1 |
| p.R765Q | CESC | 1 |
| p.E740K | SKCM | 1 |
| p.S1064N | SKCM | 1 |
| p.R683P | LUSC | 1 |
| p.Q1046H | STAD | 1 |
| p.P1003L | COAD | 1 |
| p.P741L | SKCM | 1 |
| p.D500N | GBM | 1 |
| p.W1250* | SKCM | 1 |
| p.P557S | OV | 1 |
| p.M1346I | SKCM | 1 |
| p.S1085A | UCEC | 1 |
| p.C754Y | LIHC | 1 |
| p.N189Y | BRCA | 1 |
| p.I1339V | BRCA | 1 |
| p.A1070T | STAD | 1 |
| p.D182N | LUAD | 1 |
| p.D1043N | STAD | 1 |
| p.A1335V | PRAD | 1 |
| p.Q448E | COAD | 1 |
| p.R1123C | COAD | 1 |
| p.R125W | SKCM | 1 |
| p.P841S | SKCM | 1 |
| p.A321T | COAD | 1 |
| p.Q1105K | STAD | 1 |
| p.V906I | CESC | 1 |
| p.R1176Q | COAD | 1 |
| p.G861R | STAD | 1 |
| p.R125W | UCEC | 1 |
| p.W283* | BLCA | 1 |
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| TissGeneCNV for ADAMTS13 |
| 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 ADAMTS13 |
| 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 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-AC-A2BM-01A | ADAMTS13-LHX2 | Out-of-frame | Chr9:136315086 | Chr9:126794699 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-B6-A0I9-01A | FSD1L-ADAMTS13 | Out-of-frame | Chr9:108210516 | Chr9:136313720 |
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| TissGeneNet for ADAMTS13 |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| COAD (tumor) | COAD (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| KICH (tumor) | KICH (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| STAD (tumor) | STAD (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| THCA (tumor) | THCA (normal) |
| ADAMTS13, VWF, F8 (tumor) | ADAMTS13, VWF, F8 (normal) |
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| TissGeneProg for ADAMTS13 |
| 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. |
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| 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. |
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| 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. |
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| 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 ADAMTS13 |
| TissGeneDrug for ADAMTS13 |
| 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 ADAMTS13 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0034155 | Purpura, Thrombotic Thrombocytopenic | 151 | BeFree,CTD_human,GAD,LHGDN |
| umls:C1268935 | Congenital Thrombotic Thrombocytopenic Purpura | 51 | BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT |
| umls:C2717961 | Thrombotic Microangiopathies | 32 | BeFree,CTD_human |
| umls:C0019061 | Hemolytic-Uremic Syndrome | 11 | BeFree,LHGDN |
| umls:C2584778 | Thrombotic thrombocytopenic purpura, acquired | 11 | BeFree |
| umls:C0162429 | Malnutrition | 9 | BeFree |
| umls:C0302810 | Uremia syndrome | 9 | BeFree |
| umls:C2931788 | Atypical Hemolytic Uremic Syndrome | 7 | BeFree |
| umls:C0038454 | Cerebrovascular accident | 6 | BeFree,GAD |
| umls:C0042974 | von Willebrand Disease | 5 | BeFree,LHGDN |
| umls:C0151942 | Arterial thrombosis | 5 | BeFree,GAD |
| umls:C0243026 | Sepsis | 5 | BeFree,LHGDN |
| umls:C0857305 | Thrombocytopenic purpura | 5 | BeFree |
| umls:C0027051 | Myocardial Infarction | 4 | BeFree,LHGDN |
| umls:C0035078 | Kidney Failure | 4 | BeFree |
| umls:C0036690 | Septicemia | 4 | BeFree |
| umls:C0040034 | Thrombocytopenia | 4 | LHGDN |
| umls:C0006142 | Malignant neoplasm of breast | 3 | BeFree |
| umls:C0007222 | Cardiovascular Diseases | 3 | BeFree,GAD |
| umls:C0010068 | Coronary heart disease | 3 | BeFree,GAD |
| umls:C0019693 | HIV Infections | 3 | BeFree |
| umls:C0028754 | Obesity | 3 | BeFree |
| umls:C0040053 | Thrombosis | 3 | GAD,LHGDN |
| umls:C0678222 | Breast Carcinoma | 3 | BeFree |
| umls:C1264039 | von Willebrand Disease, Type 1 | 3 | BeFree |
| umls:C0001314 | Acute Disease | 2 | BeFree |
| umls:C0002871 | Anemia | 2 | BeFree |
| umls:C0002878 | Anemia, Hemolytic | 2 | BeFree,LHGDN |
| umls:C0004364 | Autoimmune Diseases | 2 | BeFree |
| umls:C0006625 | Cachexia | 2 | BeFree |
| umls:C0010054 | Coronary Arteriosclerosis | 2 | BeFree |
| umls:C0012739 | Disseminated Intravascular Coagulation | 2 | BeFree,LHGDN |
| umls:C0022660 | Kidney Failure, Acute | 2 | BeFree |
| umls:C0022661 | Kidney Failure, Chronic | 2 | BeFree |
| umls:C0023890 | Liver Cirrhosis | 2 | LHGDN |
| umls:C0024530 | Malaria | 2 | BeFree |
| umls:C0024535 | Malaria, Falciparum | 2 | BeFree |
| umls:C0034150 | Purpura | 2 | LHGDN |
| umls:C0149871 | Deep Vein Thrombosis | 2 | BeFree |
| umls:C0155765 | Disease of capillaries | 2 | BeFree |
| umls:C0221021 | Microangiopathic hemolytic anemia | 2 | BeFree |
| umls:C0584960 | Factor V Leiden mutation | 2 | BeFree |
| umls:C0853879 | Invasive breast carcinoma | 2 | BeFree |
| umls:C0948008 | Ischemic stroke | 2 | BeFree,GAD |
| umls:C1282971 | von Willebrand Disease, Type 2B | 2 | BeFree |
| umls:C1561643 | Chronic Kidney Diseases | 2 | BeFree |
| umls:C1565489 | Renal Insufficiency | 2 | BeFree |
| umls:C1956258 | Familial Thrombotic Thrombocytopenic Purpura | 2 | BeFree |
| umls:C1956346 | Coronary Artery Disease | 2 | BeFree |
| umls:C2239176 | Liver carcinoma | 2 | BeFree |
| umls:C3272363 | Ischemic Cerebrovascular Accident | 2 | BeFree |
| umls:C3273254 | Arterionephrosclerosis | 2 | BeFree |
| umls:C0000768 | Congenital Abnormality | 1 | BeFree |
| umls:C0001430 | Adenoma | 1 | BeFree |
| umls:C0001973 | Alcoholic Intoxication, Chronic | 1 | GAD |
| umls:C0003175 | Anthrax disease | 1 | LHGDN |
| umls:C0003864 | Arthritis | 1 | BeFree |
| umls:C0004114 | Astrocytoma | 1 | BeFree |
| umls:C0004623 | Bacterial Infections | 1 | BeFree |
| umls:C0006118 | Brain Neoplasms | 1 | LHGDN |
| umls:C0007134 | Renal Cell Carcinoma | 1 | BeFree |
| umls:C0007785 | Cerebral Infarction | 1 | BeFree |
| umls:C0007786 | Brain Ischemia | 1 | GAD |
| umls:C0008370 | Cholestasis | 1 | RGD |
| umls:C0009375 | Colonic Neoplasms | 1 | LHGDN |
| umls:C0011311 | Dengue Fever | 1 | BeFree |
| umls:C0011570 | Mental Depression | 1 | BeFree |
| umls:C0011581 | Depressive disorder | 1 | BeFree |
| umls:C0011881 | Diabetic Nephropathy | 1 | BeFree |
| umls:C0014121 | Bacterial Endocarditis | 1 | BeFree |
| umls:C0017662 | Glomerulonephritis, Membranoproliferative | 1 | BeFree |
| umls:C0018939 | Hematological Disease | 1 | BeFree |
| umls:C0019080 | Hemorrhage | 1 | LHGDN |
| umls:C0019196 | Hepatitis C | 1 | LHGDN |
| umls:C0020540 | Malignant Hypertension | 1 | LHGDN |
| umls:C0020541 | Hypertension, Portal | 1 | BeFree |
| umls:C0023418 | leukemia | 1 | BeFree |
| umls:C0023487 | Acute Promyelocytic Leukemia | 1 | BeFree |
| umls:C0023903 | Liver neoplasms | 1 | BeFree |
| umls:C0024141 | Lupus Erythematosus, Systemic | 1 | BeFree |
| umls:C0024299 | Lymphoma | 1 | BeFree |
| umls:C0024534 | Malaria, Cerebral | 1 | BeFree |
| umls:C0024537 | Malaria, Vivax | 1 | BeFree |
| umls:C0024790 | Paroxysmal nocturnal hemoglobinuria | 1 | BeFree |
| umls:C0025306 | Meningococcemia | 1 | BeFree |
| umls:C0026470 | Monoclonal Gammopathy of Undetermined Significance | 1 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 1 | LHGDN |
| umls:C0027819 | Neuroblastoma | 1 | BeFree |
| umls:C0029882 | Otitis Media | 1 | LHGDN |
| umls:C0030305 | Pancreatitis | 1 | LHGDN |
| umls:C0032914 | Pre-Eclampsia | 1 | LHGDN |
| umls:C0032964 | Pregnancy Complications, Hematologic | 1 | GAD |
| umls:C0036983 | Septic Shock | 1 | LHGDN |
| umls:C0037274 | Dermatologic disorders | 1 | BeFree |
| umls:C0037926 | Compression of spinal cord | 1 | RGD |
| umls:C0042487 | Venous Thrombosis | 1 | RGD |
| umls:C0085096 | Peripheral Vascular Diseases | 1 | GAD |
| umls:C0151744 | Myocardial Ischemia | 1 | BeFree |
| umls:C0151950 | Deep thrombophlebitis | 1 | BeFree |
| umls:C0152013 | Adenocarcinoma of lung (disorder) | 1 | BeFree |
| umls:C0265026 | Capillary thrombosis | 1 | BeFree |
| umls:C0278996 | Cancer of Head and Neck | 1 | BeFree |
| umls:C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | 1 | BeFree |
| umls:C0338106 | Adenocarcinoma of colon | 1 | BeFree |
| umls:C0338656 | Impaired cognition | 1 | BeFree |
| umls:C0340708 | Deep vein thrombosis of lower limb | 1 | BeFree |
| umls:C0345904 | Malignant neoplasm of liver | 1 | BeFree |
| umls:C0346957 | Disseminated Malignant Neoplasm | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
| umls:C0398623 | Thrombophilia | 1 | BeFree |
| umls:C0398650 | Immune thrombocytopenic purpura | 1 | CTD_human |
| umls:C0398777 | Complement Factor H Deficiency | 1 | BeFree |
| umls:C0400966 | Non-alcoholic Fatty Liver Disease | 1 | RGD |
| umls:C0524620 | Metabolic Syndrome X | 1 | BeFree |
| umls:C0588008 | Severe depression | 1 | BeFree |
| umls:C0598766 | Leukemogenesis | 1 | BeFree |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0677898 | invasive cancer | 1 | BeFree |
| umls:C0700095 | Central neuroblastoma | 1 | BeFree |
| umls:C1168401 | Squamous cell carcinoma of the head and neck | 1 | BeFree |
| umls:C1378703 | Renal carcinoma | 1 | BeFree |
| umls:C1541923 | Infective endocarditis | 1 | BeFree |
| umls:C1561546 | Alkaline Phosphatase Adverse Event | 1 | GAD |
| umls:C1719672 | Severe Sepsis | 1 | BeFree |
| umls:C1848533 | Ataxia with vitamin E deficiency | 1 | BeFree |
| umls:C2316810 | Chronic kidney disease stage 5 | 1 | BeFree |
| umls:C2745900 | Promyelocytic leukemia | 1 | BeFree |
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