GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Congenital Hyperinsulinism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894015
rs104894015
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C3888018
Disease:
Congenital Hyperinsulinism 		0.010 GeneticVariation BEFREE Unlike the GK-MODY mutants, four of five GK-PHHI mutants had similar specific activity to wild type and Y214C had higher activity than wild type. 22028181 2011