HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease BEFREE Here, we outline the effects of genetic and environmental factors on the known phenotypes of MODY, focusing mainly on the examples of MODY 5 and 6, which have low penetrance, as suggestive models for elucidating the multifactorial origin of type 2 diabetes mellitus. 29406598 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE The results indicate that as in white patients, MODY resulting from mutations in the HNF-1 alpha, HNF-1 beta, and HNF-4 alpha genes in Japanese patients may be a severe disease similar to classic type 2 diabetes. 9839108 1998
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease GENOMICS_ENGLAND Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. 15085338 2004
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease GENOMICS_ENGLAND Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. 15930087 2006
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease BEFREE After adjusting for multiple covariates, SNPs in or near CDKAL1, CDKN2BAS, KCNQ1, TCF7L2, CDC123/CAMK1D, HHEX, and TCF2 were associated with the risk for lean T2D, and SNPs in or near KCNQ1 and FTO were associated with the risk for obese T2D. 27281091 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an HNF1B-MODY phenotype (MODY5). 21767339 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease HPO
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease LHGDN Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. 17327436 2007
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease LHGDN To investigate whether mutations in HNF-1 are implicated in the pathogenesis of MODY or late-onset diabetes with and without nephropathy in Danish Caucasians we examined the HNF-1beta (TCF2) and the dimerization cofactor of HNF-1 (DCoH, PCBD) genes for mutations in 11 MODY probands, 28 type 2 diabetic patients with nephropathy, and 46 type 2 diabetic patients with an impaired beta-cell function by combined single-strand conformation polymorphism (SSCP) and heteroduplex analysis. 11668623 2001
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease CTD_human Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. 17603485 2007
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10(-10)) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes. 21499250 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.800 AlteredExpression disease BEFREE We have detected the interactions of hsa-miR-214-5p/hsa-miR-550a-5p and the 3'UTR SNP of the HNF1B gene by in vitro luciferase reporter assays, and propose that the binding of such miRNAs regulates the expression of the HNF1B gene and the susceptibility of T2DM. 26329304 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Biomarker disease GENOMICS_ENGLAND
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE The subject with the R276X mutation had MODY5 misdiagnosed as common type 2 diabetes. 12161522 2002
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Our findings suggested that TCF2 variants may be involved in T2D risk in a Han population of northeastern China. 23300827 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease GWASDB Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. 22885922 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease GWASCAT Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. 26818947 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Genetic variants of WFS1, CDKAL1, CDKN2BAS, TCF7L2, HHEX, KCNQ1, TSPAN8/LGR5, FTO, and TCF2 were associated with the risk for T2D with MetS, as well as the risk for development of T2D with at least one of the MetS components (P < 0.05). 26599349 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.800 Therapeutic disease CTD_human Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. 17603485 2007
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE It identified two high-ranking, biologically interesting interactions: (1) rs748120 of NR2C2 and subregions of 8q24 that contain independent susceptibility loci specific to PRCA and (2) rs4810671 of SULF2 and both JAZF1 and HNF1B that are associated with PRCA and type 2 diabetes. 22086326 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Where type 2 diabetes was the outcome, only one statistically significant interaction effect was observed, and this was for the HNF1B rs4430796 variant (P(interaction) = 0.0004). 19324937 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. 17603485 2007
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease LHGDN Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY. 11845238 2002
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation disease BEFREE Mean C-peptide at diagnosis was higher for HNF4A-MODY than for T1D (1.8 vs 0.9 ng/mL; P < 0.01); 36.4% of patients with HNF4A-MODY and 65.7% of patients with HNF1B-MODY were treated with insulin, whereas 20.5% and 8.6% received oral antidiabetics only (P < 0.05 and P < 0.01 vs T2D). 30535056 2019