GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Hyperglycemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057524905
rs1057524905
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0020456
Disease:
Hyperglycemia 		T 0.700 CausalMutation CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519 2009
dbSNP: rs1057524905
rs1057524905
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0020456
Disease:
Hyperglycemia 		T 0.700 CausalMutation CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256 2009
dbSNP: rs1057524905
rs1057524905
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0020456
Disease:
Hyperglycemia 		T 0.700 CausalMutation CLINVAR Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 16965331 2006
dbSNP: rs1057524905
rs1057524905
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0020456
Disease:
Hyperglycemia 		T 0.700 CausalMutation CLINVAR Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. 14517946 2003