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| TissGeneSummary for HNF1B |
 Gene summary |
| Basic gene information | Gene symbol | HNF1B |
| Gene name | HNF1 homeobox B | |
| Synonyms | FJHN|HNF-1B|HNF1beta|HNF2|HPC11|LF-B3|LFB3|MODY5|TCF-2|TCF2|VHNF1 | |
| Cytomap | UCSC genome browser: 17q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000458.2, NM_001165923.2,NM_006481.1, | |
| Description | HNF-1-betaHNF1 beta Ahepatocyte nuclear factor 1-betahomeoprotein LFB3transcription factor 2, hepatic | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 189907 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000275410 | ||
| HPRD : 08926 | ||
| Vega : OTTHUMG00000188478 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HNF1B | |
| BioGPS: 6928 | ||
| Pathway | NCI Pathway Interaction Database: HNF1B | |
| KEGG: HNF1B | ||
| REACTOME: HNF1B | ||
| Pathway Commons: HNF1B | ||
| Context | iHOP: HNF1B | |
| ligand binding site mutation search in PubMed: HNF1B | ||
| UCL Cancer Institute: HNF1B | ||
| 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 HNF1B | ||
| Description by TissGene annotations | Protective TissGene in OS Protective TissGene in RFS 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 | GO:0001822 | kidney development | 21281489 | GO:0045893 | positive regulation of transcription, DNA-templated | 15509593 | GO:0060261 | positive regulation of transcription initiation from RNA polymerase II promoter | 15355349 | GO:0001822 | kidney development | 21281489 | GO:0045893 | positive regulation of transcription, DNA-templated | 15509593 | GO:0060261 | positive regulation of transcription initiation from RNA polymerase II promoter | 15355349 |
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| TissGeneExp for HNF1B |
| 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. |
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| 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) |
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| - 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 |
| LUSC | -1.976678418 | 3.36246668 | -5.339145098 | 2.24E-20 | 2.77E-19 |
| KICH | 3.634315543 | 6.066363543 | -2.432048 | 3.01E-10 | 2.15E-09 |
| STAD | 3.409786043 | 0.025589168 | 3.384196875 | 2.49E-05 | 0.000242425 |
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| TissGene-miRNA for HNF1B |
| 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 |
| ACC | hsa-miR-363-3p | MIMAT0000707 | 0.014 | -0.28 | 78 |
| ACC | hsa-miR-363-3p | MIMAT0000707 | 0.014 | -0.28 | 78 |
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| TissGeneMut for HNF1B |
| TissGeneSNV for HNF1B |
| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.T417M | GBM | 2 |
| p.R526C | SKCM | 2 |
| p.N302K | KIRC | 2 |
| p.M124I | SKCM | 2 |
| p.S151F | SKCM | 2 |
| p.R232H | OV | 1 |
| p.R233H | LGG | 1 |
| p.S364L | HNSC | 1 |
| p.Q338X | LIHC | 1 |
| p.A443G | HNSC | 1 |
| p.S216F | SKCM | 1 |
| p.M193I | SKCM | 1 |
| p.P50T | LGG | 1 |
| p.T194R | COAD | 1 |
| p.M469I | SKCM | 1 |
| p.R174K | HNSC | 1 |
| p.W238* | SKCM | 1 |
| p.G531E | SKCM | 1 |
| p.S404L | SKCM | 1 |
| p.F528S | GBM | 1 |
| p.Q431E | HNSC | 1 |
| p.G407E | SKCM | 1 |
| p.D220N | SKCM | 1 |
| p.D195N | COAD | 1 |
| p.M495I | SKCM | 1 |
| p.G287R | SARC | 1 |
| p.Q506R | UCEC | 1 |
| p.P339T | SARC | 1 |
| p.L410F | PAAD | 1 |
| p.Q182X | PCPG | 1 |
| p.R303H | HNSC | 1 |
| p.N394S | LGG | 1 |
| p.L168V | CESC | 1 |
| p.Q338* | LIHC | 1 |
| p.P401S | SKCM | 1 |
| p.Q182* | BRCA | 1 |
| p.S308F | SKCM | 1 |
| p.D194N | SKCM | 1 |
| p.P427S | SKCM | 1 |
| p.D141N | COAD | 1 |
| p.S334F | SKCM | 1 |
| p.E178K | BLCA | 1 |
| p.V187F | LUSC | 1 |
| p.R304G | BRCA | 1 |
| p.L469M | UCEC | 1 |
| p.N426T | READ | 1 |
| p.G285S | PRAD | 1 |
| p.V413F | STAD | 1 |
| p.S242F | SKCM | 1 |
| p.L114P | LIHC | 1 |
| p.A249D | LGG | 1 |
| p.H336Q | HNSC | 1 |
| p.S378L | SKCM | 1 |
| p.S539R | CESC | 1 |
| p.G40R | COAD | 1 |
| p.S334F | THYM | 1 |
| p.A97V | SARC | 1 |
| p.Q243* | SKCM | 1 |
| p.H368Y | BLCA | 1 |
| p.R232L | SKCM | 1 |
| p.G191E | SKCM | 1 |
| p.S331F | SKCM | 1 |
| p.A167T | UCEC | 1 |
| p.E259K | SKCM | 1 |
| p.G285S | STAD | 1 |
| p.D141Y | CESC | 1 |
| p.E44Q | CESC | 1 |
| p.W212X | SKCM | 1 |
| p.E233K | SKCM | 1 |
| p.G215R | STAD | 1 |
| p.V27F | LUAD | 1 |
| p.S224C | HNSC | 1 |
| p.P519L | OV | 1 |
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| TissGeneCNV for HNF1B |
| 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 HNF1B |
| 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 |
| Chimerdb3.0 | ChiTaRs | NA | CR745050 | HNF1B-HNF1B | chr17:36102128 | chr17:36102147 | |
| Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A88T-01A | SYNRG-HNF1B | In-Frame | chr17:35921296 | chr17:36070671 |
| Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A4OQ-01A | HNF1B-ARHGAP40 | Out-of-Frame | chr17:36091585 | chr20:37252001 |
| TCGAfusionPortal | PRADA | LUAD | TCGA-97-A4M3-01A | CHKA-HNF1B | In-frame | Chr11:67842184 | Chr17:36047395 |
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| TissGeneNet for HNF1B |
| 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) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| COAD (tumor) | COAD (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| HNSC (tumor) | HNSC (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| KICH (tumor) | KICH (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| KIRC (tumor) | KIRC (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| KIRP (tumor) | KIRP (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| LIHC (tumor) | LIHC (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| LUAD (tumor) | LUAD (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| LUSC (tumor) | LUSC (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| PRAD (tumor) | PRAD (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| STAD (tumor) | STAD (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| THCA (tumor) | THCA (normal) |
| HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (tumor) | HNF1B, HNF4A, SPP1, CREB1, HIST1H3A, CREBBP, ATF1, PCBD1, HNF1A, SI, MUC4, SLC22A8, ACE2, NNMT (normal) |
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| TissGeneProg for HNF1B |
| 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 HNF1B |
| TissGeneDrug for HNF1B |
| 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 HNF1B |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 45 | BeFree,CLINVAR,CTD_human,GAD,GWASCAT,LHGDN,UNIPROT |
| umls:C0376358 | Malignant neoplasm of prostate | 32 | BeFree,GAD,GWASCAT |
| umls:C0011849 | Diabetes Mellitus | 30 | BeFree,GAD |
| umls:C0011847 | Diabetes | 27 | BeFree |
| umls:C0431693 | Renal cysts and diabetes syndrome | 26 | BeFree,CLINVAR,CTD_human,UNIPROT |
| umls:C0342276 | Maturity onset diabetes mellitus in young | 25 | BeFree |
| umls:C0022658 | Kidney Diseases | 15 | BeFree,GAD |
| umls:C0600139 | Prostate carcinoma | 14 | BeFree |
| umls:C0268800 | Simple renal cyst | 13 | BeFree |
| umls:C0000768 | Congenital Abnormality | 12 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 10 | BeFree |
| umls:C0033578 | Prostatic Neoplasms | 9 | CTD_human,GAD,LHGDN |
| umls:C1140680 | Malignant neoplasm of ovary | 9 | BeFree,GWASCAT |
| umls:C0007134 | Renal Cell Carcinoma | 6 | BeFree,CTD_human |
| umls:C0206681 | Adenocarcinoma, Clear Cell | 6 | BeFree |
| umls:C0011854 | Diabetes Mellitus, Insulin-Dependent | 5 | BeFree,GAD |
| umls:C0022661 | Kidney Failure, Chronic | 5 | BeFree,GAD |
| umls:C0677886 | Epithelial ovarian cancer | 5 | BeFree,GWASCAT |
| umls:C0010709 | Cyst | 4 | BeFree,LHGDN |
| umls:C0035078 | Kidney Failure | 4 | BeFree |
| umls:C0266292 | Congenital anomaly of the kidney | 4 | BeFree |
| umls:C0476089 | Endometrial Carcinoma | 4 | BeFree,GWASCAT |
| umls:C1968949 | Cakut | 4 | BeFree |
| umls:C0007103 | Malignant neoplasm of endometrium | 3 | BeFree |
| umls:C0022680 | Polycystic Kidney Diseases | 3 | BeFree |
| umls:C0040136 | Thyroid Neoplasm | 3 | LHGDN |
| umls:C0158687 | Congenital malformation of genital organs | 3 | BeFree |
| umls:C0268113 | Familial juvenile gout | 3 | BeFree |
| umls:C0403447 | Chronic Kidney Insufficiency | 3 | BeFree |
| umls:C0596263 | Carcinogenesis | 3 | BeFree |
| umls:C0740394 | Hyperuricemia | 3 | BeFree,LHGDN |
| umls:C0919267 | ovarian neoplasm | 3 | BeFree,LHGDN |
| umls:C1561643 | Chronic Kidney Diseases | 3 | BeFree |
| umls:C1868139 | Medullary cystic kidney disease 1 | 3 | BeFree |
| umls:C1883486 | Uterine Corpus Cancer | 3 | BeFree |
| umls:C3714581 | Multicystic Dysplastic Kidney | 3 | BeFree |
| umls:C0004352 | Autistic Disorder | 2 | BeFree |
| umls:C0005744 | Blepharophimosis | 2 | BeFree |
| umls:C0008073 | Developmental Disabilities | 2 | BeFree |
| umls:C0011881 | Diabetic Nephropathy | 2 | BeFree,LHGDN |
| umls:C0014170 | Endometrial Neoplasms | 2 | BeFree,GAD |
| umls:C0022665 | Kidney Neoplasm | 2 | BeFree |
| umls:C0028754 | Obesity | 2 | BeFree,GAD |
| umls:C0085548 | Autosomal Recessive Polycystic Kidney Disease | 2 | BeFree,LHGDN |
| umls:C0267963 | Exocrine pancreatic insufficiency | 2 | BeFree |
| umls:C1112213 | Cholestasis in newborn | 2 | BeFree |
| umls:C1567435 | Polycystic Kidney - body part | 2 | BeFree |
| umls:C1698581 | Rokitansky Kuster Hauser syndrome | 2 | BeFree |
| umls:C0001430 | Adenoma | 1 | BeFree |
| umls:C0008370 | Cholestasis | 1 | BeFree |
| umls:C0009375 | Colonic Neoplasms | 1 | BeFree |
| umls:C0011065 | Cessation of life | 1 | LHGDN |
| umls:C0011882 | Diabetic Neuropathies | 1 | GAD |
| umls:C0018099 | Gout | 1 | LHGDN |
| umls:C0018817 | Atrial Septal Defects | 1 | BeFree |
| umls:C0019562 | Von Hippel-Lindau Syndrome | 1 | BeFree |
| umls:C0019693 | HIV Infections | 1 | GAD |
| umls:C0020502 | Hyperparathyroidism | 1 | BeFree |
| umls:C0022660 | Kidney Failure, Acute | 1 | BeFree |
| umls:C0022679 | Cystic kidney | 1 | BeFree |
| umls:C0023801 | Lipomatosis | 1 | BeFree |
| umls:C0024473 | Magnesium Deficiency | 1 | GAD |
| umls:C0027707 | Nephritis, Interstitial | 1 | BeFree |
| umls:C0031511 | Pheochromocytoma | 1 | BeFree |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0042580 | Vesico-Ureteral Reflux | 1 | GAD |
| umls:C0043046 | Wasting Syndrome | 1 | GAD |
| umls:C0085215 | Ovarian Failure, Premature | 1 | BeFree |
| umls:C0085413 | Polycystic Kidney, Autosomal Dominant | 1 | BeFree,LHGDN |
| umls:C0158981 | Neonatal diabetes mellitus | 1 | BeFree |
| umls:C0221033 | Trisomy X syndrome | 1 | BeFree |
| umls:C0235419 | Hyperuricemic nephropathy | 1 | BeFree |
| umls:C0238304 | Chronic interstitial nephritis | 1 | BeFree |
| umls:C0243050 | Cardiovascular Abnormalities | 1 | BeFree |
| umls:C0265234 | Branchio-Oto-Renal Syndrome | 1 | BeFree |
| umls:C0266174 | Duodenal atresia | 1 | BeFree |
| umls:C0266295 | Congenital hypoplasia of kidney | 1 | BeFree |
| umls:C0266383 | Uterine Anomalies | 1 | BeFree |
| umls:C0271650 | Impaired glucose tolerance | 1 | BeFree |
| umls:C0279663 | Serous cystadenocarcinoma ovary | 1 | BeFree |
| umls:C0332910 | bilateral agenesis | 1 | BeFree |
| umls:C0334054 | cystic disease | 1 | BeFree |
| umls:C0338656 | Impaired cognition | 1 | BeFree |
| umls:C0346429 | Multiple malignancy | 1 | BeFree |
| umls:C0403553 | Renal dysplasia and retinal aplasia (disorder) | 1 | BeFree |
| umls:C0494165 | Secondary malignant neoplasm of liver | 1 | BeFree |
| umls:C0687120 | Nephronophthisis | 1 | BeFree |
| umls:C1266042 | Chromophobe Renal Cell Carcinoma | 1 | BeFree,CLINVAR |
| umls:C1336708 | Testicular Germ Cell Tumor | 1 | GWASCAT |
| umls:C1378703 | Renal carcinoma | 1 | BeFree |
| umls:C1567426 | Unilateral Multicystic Dysplastic Kidney | 1 | BeFree,ORPHANET |
| umls:C1800706 | Idiopathic Pulmonary Fibrosis | 1 | BeFree |
| umls:C1835171 | Hypomagnesemia 2, renal | 1 | BeFree,ORPHANET |
| umls:C1955934 | Trichothiodystrophy Syndromes | 1 | BeFree |
| umls:C2239176 | Liver carcinoma | 1 | BeFree |
| umls:C2931642 | Benign symmetrical lipomatosis | 1 | BeFree |
| umls:C2939174 | Medullary cystic disease | 1 | BeFree |
| umls:C3665382 | 2,8-Dihydroxyadenine Urolithiasis | 1 | BeFree |
| umls:C3812408 | Congenital renal cyst | 1 | BeFree |
| umls:C1567427 | Bilateral Multicystic Dysplastic Kidneys | 0 | ORPHANET |
| umls:C1840451 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0 | ORPHANET |
| umls:C2677773 | Prostate Cancer, Hereditary, 11 | 0 | CTD_human |
| umls:C2931456 | Prostate cancer, familial | 0 | ORPHANET |
| umls:C3281138 | CHROMOSOME 17q12 DELETION SYNDROME | 0 | ORPHANET |
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