GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Maturity onset diabetes mellitus in young ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1255911887
rs1255911887
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		0.010 GeneticVariation BEFREE The mutants E70K and E300K, which are thought to be the cause of impaired insulin production by the pancreatic beta-cell and decreased glucose uptake by the liver of patients with maturity-onset diabetes of the young, were found to be functionally indistinguishable from the wild-type, i.e. their kcat.S0.5, inflection point and h were normal. 9078243 1997