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: rs137853336
rs137853336
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		0.800 GeneticVariation UNIPROT Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 17407387 2007
dbSNP: rs137853338
rs137853338
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		0.800 GeneticVariation UNIPROT Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 17407387 2007
dbSNP: rs137853336
rs137853336
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		0.800 GeneticVariation UNIPROT Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q). 10389854 1999
dbSNP: rs137853338
rs137853338
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		0.800 GeneticVariation UNIPROT Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q). 10389854 1999
dbSNP: rs137853336
rs137853336
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		0.800 GeneticVariation UNIPROT A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. 9243109 1997
dbSNP: rs137853336
rs137853336
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		0.800 GeneticVariation UNIPROT Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. 9313765 1997
dbSNP: rs137853338
rs137853338
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		0.800 GeneticVariation UNIPROT Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. 9313765 1997
dbSNP: rs137853338
rs137853338
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		0.800 GeneticVariation UNIPROT A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. 9243109 1997
dbSNP: rs137853336
rs137853336
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137853338
rs137853338
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		T 0.700 CausalMutation CLINVAR Fainting Fanconi syndrome clarified by proxy: a case report. 28693455 2017
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		T 0.700 CausalMutation CLINVAR Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. 28458902 2017
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: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		T 0.700 CausalMutation CLINVAR Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. 27245055 2016
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		T 0.700 CausalMutation CLINVAR Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. 25819479 2015
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: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		T 0.700 CausalMutation CLINVAR The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859 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: rs1385251852
rs1385251852
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		C 0.700 GeneticVariation 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 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: rs1568724014
rs1568724014
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		T 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: rs1568724014
rs1568724014
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		T 0.700 CausalMutation CLINVAR Multidomain integration in the structure of the HNF-4α nuclear receptor complex. 23485969 2013
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1 		T 0.700 CausalMutation CLINVAR Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. 20164212 2010
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