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: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Characteristics of maturity onset diabetes of the young in a large diabetes center. 26059258 2016
dbSNP: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation. 24947580 2014
dbSNP: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Multidomain integration in the structure of the HNF-4α nuclear receptor complex. 23485969 2013
dbSNP: rs1375557127
rs1375557127
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: rs1375557127
rs1375557127
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 (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. 16917892 2006
dbSNP: rs1375557127
rs1375557127
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		A 0.700 CausalMutation CLINVAR Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients. 10768098 2000