GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Hyperinsulinemic hypoglycemia, familial, 3 ×
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: C1865290
Disease:
Hyperinsulinemic hypoglycemia, familial, 3 		0.800 GeneticVariation UNIPROT Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization. 28247534 2017
dbSNP: rs104894015
rs104894015
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C1865290
Disease:
Hyperinsulinemic hypoglycemia, familial, 3 		0.800 GeneticVariation UNIPROT Large islets, beta-cell proliferation, and a glucokinase mutation. 20375417 2010
dbSNP: rs104894015
rs104894015
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C1865290
Disease:
Hyperinsulinemic hypoglycemia, familial, 3 		0.800 GeneticVariation UNIPROT Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 19884385 2009
dbSNP: rs104894015
rs104894015
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C1865290
Disease:
Hyperinsulinemic hypoglycemia, familial, 3 		0.800 GeneticVariation UNIPROT Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations. 17082186 2006
dbSNP: rs104894015
rs104894015
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C1865290
Disease:
Hyperinsulinemic hypoglycemia, familial, 3 		0.800 GeneticVariation UNIPROT Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 15277402 2004
dbSNP: rs104894015
rs104894015
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C1865290
Disease:
Hyperinsulinemic hypoglycemia, familial, 3 		0.800 GeneticVariation UNIPROT Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. 12941786 2003
dbSNP: rs104894015
rs104894015
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C1865290
Disease:
Hyperinsulinemic hypoglycemia, familial, 3 		0.800 GeneticVariation UNIPROT The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. 11916951 2002
dbSNP: rs104894015
rs104894015
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C1865290
Disease:
Hyperinsulinemic hypoglycemia, familial, 3 		0.800 GeneticVariation UNIPROT Familial hyperinsulinism caused by an activating glucokinase mutation. 9435328 1998
dbSNP: rs104894015
rs104894015
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C1865290
Disease:
Hyperinsulinemic hypoglycemia, familial, 3 		C 0.800 CausalMutation CLINVAR