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: 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: 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: 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