HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776793516
rs776793516
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		G 0.700 CausalMutation CLINVAR Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital. 25414397 2014
dbSNP: rs776793516
rs776793516
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		G 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: rs776793516
rs776793516
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		G 0.700 CausalMutation CLINVAR The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. 18003757 2008
dbSNP: rs776793516
rs776793516
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		G 0.700 CausalMutation CLINVAR Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. 12453976 2002
dbSNP: rs776793516
rs776793516
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		G 0.700 CausalMutation CLINVAR beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. 11272211 2001
dbSNP: rs776793516
rs776793516
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		G 0.700 CausalMutation CLINVAR A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. 9439666 1997
dbSNP: rs776793516
rs776793516
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		G 0.700 CausalMutation CLINVAR Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. 9075818 1997