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: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE We studied 86 adult offspring (mean age 40 years), 49 born to glucokinase mothers (exposed to hyperglycaemia in utero) and 37 born to glucokinase fathers (controls). 17216282 2007
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE To assess the association between chronic, mild hyperglycemia and complication prevalence and severity in patients with GCK mutations. 24430320 2014
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Moreover, an additive effect of GCKR rs1260326(T) and GCK (-30G) alleles conferred lower fasting glycemia (P = 1 x 10(-13)), insulinemia (P = 5 x 10(-6)), and hyperglycemia risk (P = 1 x 10(-6)). 18556336 2008
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE This nonradioactive SSCP technique may be useful to routinely diagnose glucokinase deficiency, which is an important cause of hyperglycemia among young type II diabetic patients. 8168652 1994
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE In pregnancies where the mother has hyperglycemia due to a GCK mutation, knowing the fetal GCK genotype guides the management of maternal hyperglycemia. 22773699 2012
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Functional studies of naturally occurring GCK mutations associated with hyperglycaemia provide further insight into the biochemical basis of glucose sensor regulation. 17186219 2007
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis. 10525657 1999
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE The findings leading to the diagnosis were impaired fasting glucose (IFG) (15/37), symptoms of hyperglycemia (4/37), and a GCK-MODY family history (18/37). 28663157 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE Heterozygous inactivating mutations in the GCK gene cause the familial, mild fasting hyperglycaemia named MODY2. 29704611 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE MODY due to mutations in the glucokinase gene is a relatively mild form of diabetes with mild fasting hyperglycemia and IGT in the majority. 8035658 1994
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE GCK-MODY leads to mildly elevated blood glucose typically not requiring therapy. 27106716 2016
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 AlteredExpression disease BEFREE We developed a gene therapy approach to control diabetic hyperglycemia based on co-expression of the insulin and glucokinase genes in skeletal muscle. 28626777 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE The principal objective of the current study is to determine the outcomes and clinical management of hyperglycemia in pregnancies complicated by glucokinase gene (GCK) and hepatocyte nuclear factor (HNF)-1α MODY mutations. 25935773 2015
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans. 19187021 2009
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Mutations in glucokinase/MODY2 result in mild chronic hyperglycaemia due to reduced pancreatic beta-cell responsiveness to glucose as well as decreased net accumulation of hepatic glycogen and increased hepatic gluconeogenesis following meals. 9162575 1997
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE MODY 2 is characterized by mild asymptomatic fasting hyperglycemia, and rarely requires pharmacological treatment. 23295292 2012
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia. 30592380 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE Our findings link defects in hormone-regulated GCK S-nitrosylation to hyperglycemia and support a role for posttranslational regulation of GCK S-nitrosylation as a vital regulatory mechanism for glucose-stimulated insulin secretion. 19934346 2010
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE This novel mutation in the glucokinase gene led to atypical symptomatic exercise-induced hyperglycaemia that was responsive to low dose sulfonylurea with self-reported additional benefit after reduction of carbohydrate intake. 24503189 2014
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Heterozygous mutations in glucokinase (GCK) are associated with mild fasting hyperglycemia and gestational diabetes mellitus while homozygous or compound heterozygous GCK mutations result in permanent neonatal diabetes mellitus. 21978167 2012
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE The GCK-MODY was identified by incidental hyperglycemia without glycosuria. 31216263 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families. 23433541 2013
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Rare mutations of GCK cause fasting hyperglycemia and alter birth weight. 17186458 2006
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE The most frequently observed combinations of symptoms typical for GCK-MD were mild diabetes and/or fasting hyperglycaemia (98.3%), positive C-peptide at diagnosis (76%) and dominant mode of inheritance (59%). 21348868 2012
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 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