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 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 GeneticVariation disease 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
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 Biomarker disease 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
1.000 Biomarker disease 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: 5078
Gene Symbol: PAX4
PAX4
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 Biomarker 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
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease GWASCAT Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. 31118516 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease 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
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 GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
1.000 GeneticVariation disease GWASCAT Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. 29632382 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease GWASCAT Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. 29632382 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease 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
1.000 Biomarker disease 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
1.000 GeneticVariation disease 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
1.000 Biomarker disease GENOMICS_ENGLAND Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. 28242437 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
1.000 GeneticVariation disease 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