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
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease BEFREE We assessed the contribution of hyperglycemia by comparing insulin sensitivity in control and GCK-MODY and the contribution of hyperinsulinemia by comparing GCK-MODY and type 1 diabetes. 31092478 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Four cases of HI with mutations in GCK were identified. 28247534 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 AlteredExpression disease BEFREE Fructose fed rats had: hypertriglyceridemia, hyperinsulinemia and high liver glucokinase activity (mainly located in the cytosolic fraction) together with higher glucokinase and 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase mRNA and protein concentrations compared to control rats. 26524624 2015
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation. 24890200 2014
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE We also demonstrate that small-molecule diabetes therapeutic agents and hyperinsulinemia-associated GCK mutations share a strikingly similar activation mechanism, characterized by a population shift toward a more narrow, well-ordered ensemble resembling the glucose-bound conformation. 23271955 2012
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 AlteredExpression disease BEFREE CA-hHSF1 expression increased insulin secretion 1.27-fold compared with the overexpression of wild-type hHSF1 in MIN6 cells via induction of HSP90 expression and subsequent activation of glucokinase. 20817212 2011
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease BEFREE There was no single consistent diagnostic criterion found for our patient and glucokinase hyperinsulinism individuals in general. 19053014 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE We report three children with de novo glucokinase hyperinsulinism mutations who displayed a spectrum of clinical phenotypes corresponding to marked differences in enzyme kinetics. 19336674 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE In contrast to focal islet-cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward-rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) enzyme inrecessively inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise-induced HI with still-unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism. 15868462 2005
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease LHGDN Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 15277402 2004
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease BEFREE Others cases of CHI are due to rare mutations in the beta-cell enzymes glucokinase (only one family described) and glutamate dehydrogenase in hyperammonaemia-associated hyperinsulinism. 12566718 2003
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE The four known genetic causes for inborn hyperinsulinism (mutations in the genes ABCC8, KCNJ11, GLUD1, and GCK) were excluded. 12400064 2002
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Compared to NIDDM with 1.3 kb allele/Pvu I digestion of glucokinase, 10% of NIDDM did not demonstrate 1.3 kb allele and these patients were characterized by increased insulin secretion. 7913622 1994