HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Maturity-Onset Diabetes of the Young, Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1392795567
rs1392795567
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. 23348805 2013
dbSNP: rs1392795567
rs1392795567
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 17407387 2007
dbSNP: rs1392795567
rs1392795567
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. 15830177 2005
dbSNP: rs1392795567
rs1392795567
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage. 193395 1977