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
Maturity onset diabetes mellitus in young
0.700 Biomarker disease BEFREE At follow-up, the very good metabolic control on a low insulin dose and negative IA2 antibodies led to a suspicion of glucokinase (GCK)-related maturity-onset diabetes of the young (MODY 2). 28387648 2017
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease CLINVAR Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase. 28842611 2017
Maturity onset diabetes mellitus in young
0.700 Biomarker disease BEFREE The aim of the study was to analyse the sequence of the BCL2-associated agonist of cell death (BAD) gene in patients with clinical suspicion of GCK-MODY, but who were negative for glucokinase (GCK) gene mutations. 27935851 2017
Maturity onset diabetes mellitus in young
0.700 Biomarker disease BEFREE Post-hoc analysis revealed significant differences in mean glucose to creatinine ratio change between type 2 diabetes and each monogenic diabetes in response to dapagliflozin (p = 0.02, p = 0.003 for HNF1-A and GCK MODY, respectively), but not between the two MODY forms (p = 0.7231). 28593615 2017
Maturity onset diabetes mellitus in young
0.700 Biomarker disease BEFREE A genetic diagnosis guided the therapeutic decisions, allowed the formulation of a prognosis regarding chronic diabetic complications for a relevant number of patients (i.e.,GCK/MODY), and helped to provide genetic counseling. 28323911 2017
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE Twelve of 148 young participants with European ethnic backgrounds (8%) were identified by the risk prediction model as likely to have MODY; four had a glucokinase gene mutation. 29020906 2017
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE The p.Leu77Arg but not p.Val101Met GCK mutation is therefore considered a pathogenic mutation associated with MODY. 27185633 2016
Maturity onset diabetes mellitus in young
0.700 CausalMutation disease CLINVAR Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes. 27080136 2016
Maturity onset diabetes mellitus in young
0.700 Biomarker disease BEFREE Glucokinase monogenic diabetes (GCK-maturity-onset diabetes of the young [MODY]) should be differentiated from gestational diabetes mellitus (GDM) because management differs. 26109503 2016
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. 27256595 2016
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE The most common forms of MODY are caused by mutations in glucokinase and hepatic nuclear factor 1 alpha or 4 alpha genes and account for almost 80% of cases of MODY. 27130141 2016
Maturity onset diabetes mellitus in young
0.700 Biomarker disease BEFREE However, except in patients with GCK-MODY whose phenotype is very homogeneous, in most cases the penetrance and expressivity of a given molecular abnormality vary greatly among patients and, conversely, alterations in various genes may lead to similar phenotypes. 27103109 2016
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE Maturity-onset diabetes of the young 2 (MODY2) is a form of diabetes that is clinically characterized by early age at onset and mild hyperglycemia, and has a low risk of late complications. 27289208 2016
Maturity onset diabetes mellitus in young
0.700 Biomarker disease BEFREE After adjustment for possible clinical and biochemical cofounders, IMT remained higher in HNF1A-MODY patients as compared with GCK-MODY patients (P=0.02) and controls (P=0.0003). 25501962 2015
Maturity onset diabetes mellitus in young
0.700 Biomarker disease BEFREE Mutations in the glucokinase (GCK) (MODY 2) and hepatocyte nuclear factor (HNF)1A/4A (MODY 3 and MODY 1) genes are the most common causes of MODY. 25581748 2015
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE Heterozygous inactivating glucokinase mutations cause the autosomal dominantly inherited MODY2 subtype of maturity-onset diabetes of the young. 26208450 2015
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease CLINVAR Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. 25555642 2015
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE The results of this study showed that mutations in the GCK gene are the leading cause of MODY in our population. 26226118 2015
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause maturity-onset diabetes of the young (MODY) subtype GCK (GCK-MODY/MODY2). 24735133 2015
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE Glucokinase (GK) plays a critical role in glucose homeostasis and the mutations in GK gene result in pathogenic complications known as Maturity Onset Diabetes of the Young 2, an autosomal dominant form of diabetic condition. 24447076 2015
Maturity onset diabetes mellitus in young
0.700 Biomarker disease BEFREE The ghrelin levels were higher in HNF1A-MODY and GCK-MODY than in T1DM and T2DM (p < 0.001 for all comparisons) but lower than in non-diabetic controls (1.02 ± 0.29 ng/ml, p < 0.001 for both comparisons). 25987348 2015
Maturity onset diabetes mellitus in young
0.700 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
Maturity onset diabetes mellitus in young
0.700 GeneticVariation disease BEFREE To prospectively determine the prevalence of maturity onset diabetes of the young (MODY) due to glucokinase (GCK) mutations in an American population of women with recent onset diabetes mellitus and gestational diabetes. 25012807 2015
Maturity onset diabetes mellitus in young
0.700 CausalMutation disease CLINVAR Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. 25555642 2015