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: rs1565886545
rs1565886545
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		C 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 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: rs1172328722
rs1172328722
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		A 0.700 CausalMutation CLINVAR Three novel mutations in MODY and its phenotype in three different Czech families. 20132997 2010
dbSNP: rs1565886545
rs1565886545
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		C 0.700 CausalMutation CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519 2009
dbSNP: rs1565886545
rs1565886545
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		C 0.700 CausalMutation CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152 2009
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: rs1172328722
rs1172328722
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		A 0.700 CausalMutation CLINVAR High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. 12488961 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 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: rs1172328722
rs1172328722
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		A 0.700 CausalMutation CLINVAR Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. 10754480 2000
dbSNP: rs1172328722
rs1172328722
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		A 0.700 CausalMutation CLINVAR Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. 10078571 1999
dbSNP: rs1172328722
rs1172328722
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		A 0.700 CausalMutation CLINVAR Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). 9097962 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 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
dbSNP: rs1131692182
rs1131692182
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs137853236
rs137853236
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853237
rs137853237
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137853241
rs137853241
Entrez Id: 6927;64897
Gene Symbol: HNF1A;C12orf43
HNF1A;C12orf43
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853243
rs137853243
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853244
rs137853244
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853245
rs137853245
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137853245
rs137853245
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs137853246
rs137853246
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs137853247
rs137853247
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C1838100
Disease:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		A 0.700 CausalMutation CLINVAR