HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Diabetes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs952497863
rs952497863
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011847
Disease:
Diabetes 		0.020 GeneticVariation BEFREE Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. 26981542 2016
dbSNP: rs952497863
rs952497863
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011847
Disease:
Diabetes 		0.020 GeneticVariation BEFREE The heterozygous T130I mutation was the unique functional gene variation that could explain diabetes phenotype. 25361053 2014