Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE This study was aimed to assess the association of the two single nucleotide polymorphisms (SNPs) near P2 promoter (rs1884614 and rs2144908) of hepatocyte nuclear factor-4alpha (HNF4A) with insulin secretion index and type 2 diabetes in Thais. 17805472 2007
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE HNF1A is a gene coding for the transcription factor HNF1-α, mutated in some forms of MODY and type 2 diabetes mellitus characterized by a strong genetic component. 30963309 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 Biomarker disease BEFREE Subjects with MODY as well as those with type 2 diabetes are characterized by obesity and hyperinsulinemia. 20621032 2010
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Considering a strong association between human HNF4A polymorphisms and increased risk of type 2 diabetes our current findings suggest that downregulation of AGXT2 and subsequent impairment in metabolism of dimethylarginines and BAIB caused by HNF4α deficiency might contribute to development of cardiovascular complications in diabetic patients. 27752141 2016
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood. 27552834 2016
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE We review recent studies that suggest that common MODY gene variation contributes modestly to the heritability of type 2 diabetes. 17425917 2007
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE In conclusion, a rare, novel mutation that disrupts a protein binding site in the pancreatic HNF4A promoter associates with late-onset diabetes. 16731855 2006
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE In conclusion, subjects with HNF4 alpha P2 variants and haplotypes have been shown to have a higher insulin resistance and are therefore at a higher risk for developing type 2 diabetes mellitus. 21633728 2011
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 Biomarker disease BEFREE In conclusion, mutations in HNF-1beta and DCoH are not a major cause of MODY or late onset type 2 diabetes in Danish Caucasian subjects. 11668623 2001
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE This mutation was also identified in another proband from the autosomal dominant T2D family without mutation in known MODY genes and was segregated with diabetes. 29767246 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Several studies have identified evidence for linkage between type 2 diabetes and the regions on chromosomes 12 and 20 containing the maturity-onset diabetes of the young (MODY) genes, hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-4alpha. 10690901 2000
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 Biomarker disease BEFREE Here, we profiled metabolites in serum from patients with MODY1 (HNF4A), MODY2 (GCK), MODY3 (HNF1A), and type 2 diabetes and from healthy individuals to characterize metabolic perturbations caused by specific mutations. 23139355 2013
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Our aim was to determine the prevalence of the most common MODY genes in Italian families with early-onset Type II (non-insulin-dependent) diabetes mellitus. 11692182 2001
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE The maturity-onset diabetes of the young (MODY), an autosomal dominant form of non-insulin dependent diabetes mellitus (NIDDM), is caused by mutations in the glucokinase (GK, MODY 2) and in the hepatocyte nuclear factor 1a (MODY 3) and 4a (MODY 1) genes. 10694920 1998
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Our data suggest that common variants in several MODY genes play a modest role in type 2 diabetes susceptibility. 16936201 2006
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Effect of common polymorphisms in the HNF4alpha promoter on susceptibility to type 2 diabetes in the French Caucasian population. 15735892 2005
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE The results of this study provide evidence that variants in both the P1 and P2 promoters of HNF4A increase risk for typical type 2 diabetes. 15561969 2004
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Finally, the example of single gene diabetes, particularly HNF1A MODY and permanent neonatal diabetes associated with the KCNJ11 and ABCC8 genes, all efficiently controlled on sulfonylurea, inspires us to continue the efforts to tailor individual treatment for T2DM patients. 22996131 2012
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE Our results and the independent observation of association of SNPs near the P2 promoter with diabetes in a separate study population of Ashkenazi Jewish origin suggests that variant(s) located near or within HNF4A increases susceptibility to type 2 diabetes. 15047633 2004
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 Biomarker disease BEFREE Genetic abnormalities in HNF4A and HNF1A lead to a dual phenotype of HH in the newborn period and maturity onset-diabetes later in life. 25733449 2015
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 CausalMutation disease CLINVAR
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease BEFREE The study included 220 affected subjects from 29 families in which early-onset type 2 diabetes occurred in multiple generations and was not linked to known MODY genes (MODY gene-negative families). 10333942 1999
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 Biomarker disease BEFREE We screened all 10 exons specific for the pancreatic isoform of glucokinase (1a and 2-10) including the intron flanking regions in 722 subjects (in 12 patients with an unrecognised type of MODY and their 10 family members, 313 patients with diabetes mellitus type 2 (DM2), 141 gestational diabetics (GDM), 130 healthy offspring of diabetic parents, and 116 healthy controls without family history of DM2). 18271687 2008