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: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 Biomarker disease BEFREE The study presented a simpler and more reliable way in studying the properties of glucokinase and its effectors, providing guidelines of effector developments for hyperglycemia and hypoglycemia treatment. 31011989 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 Biomarker disease BEFREE The clinical characteristics of patients with GK-activating mutations or GK regulatory protein (GKRP) loss-of-function mutations suggest that a hepatoselective GK activator (GKA) that does not activate GK in β cells or affect the GK-GKRP interaction may reduce hyperglycemia in patients with type 2 diabetes while limiting hypoglycemia and liver-associated adverse effects. 30651321 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE Consistent with this, glucagon responses to hypoglycemia were also increased in I366F mice with mutated glucokinase and in streptozotocin-treated β-cell ablated diabetic I366F mice. 30146176 2018
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE As one form of congenital hyperinsulinism (CHI), activating mutations of GCK result in a decreased threshold for glucose-stimulated insulin secretion and hypoglycemia. 29044608 2018
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 Biomarker disease BEFREE Discovery of liver-directed glucokinase activator having anti-hyperglycemic effect without hypoglycemia. 28390958 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 Biomarker disease BEFREE A one-time intramuscular administration of adeno-associated viral vectors of serotype 1 encoding for glucokinase and insulin in diabetic dogs resulted in normalization of fasting glycemia, accelerated disposal of glucose after oral challenge, and no episodes of hypoglycemia during exercise for >4 years after gene transfer. 23378612 2013
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE The unique role of glucokinase in human glucose physiology is illustrated by the fact that genetic mutations in glucokinase can either cause hyperglycaemia or hypoglycaemia. 20878480 2010
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE A growing number of heterozygous activating GCK mutations that cause hypoglycemia have also been reported. 19790256 2009
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease LHGDN Activating mutations in the human glucokinase gene revealed by genetic selection. 19146401 2009
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 Biomarker disease BEFREE These results confirm the potency of glucokinase as the pancreatic beta-cell glucose sensor, and they demonstrate that responsiveness to diazoxide varies with genotype in glucokinase hyperinsulinism resulting in hypoglycemia, which can be more difficult to control than previously believed. 19336674 2009
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE Mutational analysis of the GCK-gene should be performed in all individuals with unclear episodes of hypoglycemia even without documented hyperinsulinism during hypoglycemia. 19053014 2009
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE A novel GCK mutation (G68V) co-segregating with hypoglycaemia was identified in eight family members. 17976205 2007
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE We report two novel GCK mutations (T65I and W99R) that have arisen de novo in two families with familial hypoglycemia. 12941786 2003
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE Several heterozygous activating GCK mutations that cause hypoglycemia have also been reported. 14517946 2003
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE In order to assess functional consequences of glucokinase mutations, counterregulatory hormones secretion and glucose production (6,6(- 2) H glucose) were monitored during an hyperinsulinemic clamp at about 2.4 pmol.kg(- 1).min(- 1) insulin with progressive hypoglycemia in 7 maturity onset diabetes of the young (MODY) type 2 patients, 5 patients with type 2 diabetes, and 13 healthy subjects. 11119017 2000
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 Biomarker disease BEFREE Mutations in human glucokinase are implicated in the development of diabetes and hypoglycemia. 10480597 1999
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 GeneticVariation disease BEFREE Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis. 10525657 1999