Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation 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
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker 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

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE We combined these results with our previous studies on HNF4alpha and TCF1 and explicitly tested for gene-gene interactions among these variants and with several known type 2 diabetes susceptibility loci, and we found no genetic interactions between these six genes. 17327436

2007

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE During the course of our search for susceptibility genes contributing to the more common late-onset NIDDM forms, we observed nominal evidence for linkage between NIDDM and markers in the region of the HNF-4alpha/MODY1 locus in a subset of French families with NIDDM diagnosed before 45 yr of age. 9449683

1998

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE We recommend inclusion of exon 1E and nearby DNA sequences in screening for HNF4alpha mutations and polymorphisms in genetic analyses of MODY1 and T2DM. 19353766

2009