rs764232985, GCK

N. diseases: 4
Disease: Monogenic diabetes ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 GeneticVariation CLINVAR Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. 25015100 2014
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 GeneticVariation CLINVAR Both our functional and genetic studies support R43H as the cause of GCK-MODY and G68D as a neutral rare variant. 22611063 2012
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 GeneticVariation CLINVAR Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. 22493702 2012
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 GeneticVariation CLINVAR Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients. 19358091 2009
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 GeneticVariation CLINVAR Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. 17573900 2007
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 GeneticVariation CLINVAR To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123. 11942313 2002