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 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 GeneticVariation BEFREE Mutations in the HNF4A gene cause MODY1 and are associated with an increased risk of Type 2 diabetes mellitus. 30862908

2019

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE A genome-wide association study reported FITM2-R3H domain containing like-HNF4A locus to be associated with type 2 diabetes (T2DM) in East Asian populations. 30020828

2019

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker BEFREE However, positivity for ZnTA can be used as a negative MODY pre-diagnostic criterion even in the region of Central and East Europe, where other islet cell autoantibodies are common in MODY patients. 30377089

2019

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker BEFREE Considering a strong association between HNF4A deregulation and increased risk of T2DM, our findings suggest that HNF4α may act as a critical converging point linking hyperprocoagulant condition to VEGF resistance in diabetic ECs, and repression of FLK1 expression by thrombin-induced HNF4α mediates, at least partially, the vascular dysfunction caused by T2DM. 30873661

2019

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker 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

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE PAX4 R192H is associated with younger onset of Type 2 diabetes in East Asians in Singapore. 30528630

2019

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE Meta-analysis showed only rs266729 and rs17300539 of ADIPOQ, and rs1884613, rs2144908, and rs4810424 of HNF4A were significantly associated with T2D risk. 30860284

2019

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 Most (6/7) patients with HNF4A variants rapidly failed TODAY treatment across study arms (hazard ratio = 5.03, P = 0.0002), while none with GCK variants failed treatment.ConclusionThe finding of 4.5% of patients with monogenic diabetes in an overweight/obese cohort of children and adolescents with T2D suggests that monogenic diabetes diagnosis should be considered in children and adolescents without diabetes-associated autoantibodies and maintained C-peptide, regardless of BMI, as it may direct appropriate clinical management. 29758564

2018

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE Objective The rs10229583 polymorphism near paired box gene 4 ( PAX4) is associated with insulin resistance and type 2 diabetes. 28730907

2018

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker BEFREE The clinical course of KPD is like that of patients with type 2 diabetes rather than that of type 1 diabetes. 30280274

2018

Entrez Id: 5506
Gene Symbol: PPP1R3A
PPP1R3A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE For the first time, rs1799999 in PPP1R3A was associated with risk of T2D in Mayan Mexican individuals (OR = 1.625, P = 0.014). 29948331

2018

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE We report that the HMG20A (rs7178572) and HNF4A (rs4812829) variants that have previously shown a strong association with T2DM in Asian Indians also contributes significant risk to GDM in this population. 28190082

2017

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE In the discovery stage, an Asian-specific coding variant rs2233580 (p.Arg192His) in PAX4, and two variants at the known loci, CDKN2B-AS1 and KCNQ1, were significantly associated with type 2 diabetes with exome-wide significance (p <sub>discovery</sub> < 6.45 × 10<sup>-7</sup>). 27744525

2017

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE The T2DM association in FITM2-R3HDML-HNF4A (rs3212183; P = .0002; OR = 1.19 [1.09-1.30]) was independent from the East Asian lead SNP (rs6017317), which did not associate with T2DM in American Indians. 27862917

2017

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker BEFREE The results confirm that MODY is under-diagnosed, particularly in individuals presenting with early onset diabetes and clinically labeled as type 2 diabetes; thus, sequencing of all monogenic diabetes genes should be routinely considered in such individuals. 29207974

2017

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE Thus, the aim of the present study was to evaluate the frequency and relationship of the T130I variant in the HNF4A gene with risk factors for developing T2D in eleven indigenous groups from Mexico. 28688048

2017

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 The four polymorphisms, rs4810424, rs1884613, rs1884614 and rs2144908, in the HNF‑4α gene were not the susceptible loci for type 2 diabetes in the Bai population of Dali city, however, the haplotype, CCTA, built from the four SNPs may increase the risk of type 2 diabetes in this population. 26781905

2016

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE Our results show that mutations in HNF4A and HNF1A genes might account for this early-onset inherited type 2 diabetes. 26981542

2016

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE However, since HNF4A and KLF14 are established loci for type 2 diabetes, it is unlikely that HDL-C solely mediates these associations. 26670163

2016

Entrez Id: 5506
Gene Symbol: PPP1R3A
PPP1R3A
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE Polymorphisms were selected on the basis of information available in the literature for INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) in context to T2D. 26251103

2016

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation BEFREE PAX4 rs712701 was not associated with T2D but it was in linkage disequilibrium with rs2233580. 27334367

2016