rs761415487, HNF1B

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. 15930087 2006
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. 16249435 2005
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. 15068978 2004
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. 15181075 2004
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations. 15001636 2004
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy. 14583183 2004
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. 11918730 2002
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY. 11845238 2002
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both. 10672455 2000
Renal cysts and diabetes syndrome
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
0.700 GeneticVariation UNIPROT A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. 10484768 1999