rs764232985, GCK

N. diseases: 4
Disease: Hyperglycemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
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
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 GeneticVariation CLINVAR Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. 22611063 2012
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 GeneticVariation CLINVAR Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. 22493702 2012
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 GeneticVariation CLINVAR Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients. 19358091 2009
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 GeneticVariation CLINVAR Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. 17573900 2007
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 GeneticVariation CLINVAR To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123. 11942313 2002