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: 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: 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