GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GeneticVariation disease UNIPROT Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization. 28247534 2017
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GermlineCausalMutation disease ORPHANET Molecular mechanisms of congenital hyperinsulinism. 25733449 2015
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GeneticVariation disease UNIPROT Large islets, beta-cell proliferation, and a glucokinase mutation. 20375417 2010
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GeneticVariation disease UNIPROT Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 19884385 2009
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GeneticVariation disease UNIPROT Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations. 17082186 2006
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GeneticVariation disease UNIPROT Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 15277402 2004
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GeneticVariation disease UNIPROT Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. 12941786 2003
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GeneticVariation disease UNIPROT The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. 11916951 2002
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GeneticVariation disease UNIPROT Familial hyperinsulinism caused by an activating glucokinase mutation. 9435328 1998
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GermlineCausalMutation disease ORPHANET Familial hyperinsulinism caused by an activating glucokinase mutation. 9435328 1998
Hyperinsulinemic hypoglycemia, familial, 3
0.700 Biomarker disease CTD_human
Hyperinsulinemic hypoglycemia, familial, 3
0.700 Biomarker disease GENOMICS_ENGLAND
Hyperinsulinemic hypoglycemia, familial, 3
0.700 GeneticVariation disease CLINVAR
Hyperinsulinemic hypoglycemia, familial, 3
0.700 CausalMutation disease CLINVAR
Hyperinsulinemic hypoglycemia, familial, 3
0.700 Biomarker disease GENOMICS_ENGLAND