GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Monogenic diabetes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 Biomarker disease BEFREE The prevalence of GCK variants indicates that diagnostics of monogenic diabetes in Russian children may begin with testing for MODY2. 31638168 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE This included simulating GK gene (GCK) mutations that cause monogenic diabetes. 31753287 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 Biomarker disease BEFREE GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants. 31063852 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 Biomarker disease BEFREE This case highlights the value of sequencing the GCK gene in individuals with GCK-MODY phenotype and no family history of monogenic diabetes. 30086370 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 Biomarker disease BEFREE The true frequency of MD in the overall population may be higher given later onset of reportedly more frequent types of MD than GCK -MODY. 28436179 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE Most (6/7) patients with HNF4A variants rapidly failed TODAY treatment across study arms (hazard ratio = 5.03, P = 0.0002), while none with GCK variants failed treatment.ConclusionThe finding of 4.5% of patients with monogenic diabetes in an overweight/obese cohort of children and adolescents with T2D suggests that monogenic diabetes diagnosis should be considered in children and adolescents without diabetes-associated autoantibodies and maintained C-peptide, regardless of BMI, as it may direct appropriate clinical management. 29758564 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 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
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE Here, we validated and improved their specificity by performing a comprehensive bioinformatics analysis combined with experimental and clinical data on a model of glucokinase (GCK): 8835 putative variations, including 515 disease-associated variations from 1596 families with diagnoses of monogenic diabetes (GCK-MODY) or persistent hyperinsulinemic hypoglycemia of infancy (PHHI), and 126 variations with available or newly reported (19 variations) data on enzyme kinetics. 28842611 2017
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE Mutations in the GCK gene lead to different forms of glucokinase (GCK)-disease, activating mutations cause hyperinsulinaemic hypoglycaemia while inactivating mutations cause monogenic diabetes. 28247534 2017
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 Biomarker disease BEFREE Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. 26109503 2016
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE Even though common recommendations regarding the diagnosis of monogenic diabetes include the existence of a strong family history of diabetes, here we describe the study of mutations in two families with a symptomatic individual with clear clinical features of MODY2 but without any family history of diabetes. 27289208 2016
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 Biomarker disease BEFREE We sought to determine clinical criteria that could optimally identify candidates for genetic testing of two common forms of MD that alter therapy: glucokinase (GCK) and hepatocyte nuclear factor 1 alpha (HNF1α). 25082184 2015
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE Glucokinase related maturity-onset diabetes of the young (GCK-MODY) is a form of monogenic diabetes characterized by mildly elevated fasting blood sugars and HbA(1c) typically ranging from 38 to 60 mmol/mol (5.6-7.6%). 25494859 2015
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 Biomarker disease BEFREE GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. 26043405 2015
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease CLINVAR Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. 25015100 2014
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 Biomarker disease BEFREE Identifying glucokinase monogenic diabetes (GCK-MODY) in pregnancy is important, as management is different from management for other forms of gestational diabetes mellitus (GDM) and there is no increased maternal risk of type 2 diabetes. 24550216 2014
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE The study group included 129 children with GCK-MODY from the Polish Registry of Monogenic Diabetes and 395 with type 1 diabetes (T1DM), in whom we genotyped 2 SNPs in G6PC2 (rs560887) and GCKR (rs1260326). 24918535 2014
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE We determined the rs560887 genotype of patients with monogenic diabetes and glucokinase gene mutations (GCK-MODY) and correlated the genotypes with HbA(1c) levels. 22486180 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE The prevalence of MD was stable at between 4.2 and 4.6/100,000 children, accounting for 3.1-4.2% of children with diabetes, with glucokinase (GCK)-MODY being the most frequent type, amounting to 83% of patients with MD. 22782286 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease CLINVAR Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. 22493702 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population. 21348868 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE Mutations in the glucokinase gene (GCK) account for many cases of monogenic diabetes featuring maturity-onset diabetes of the young type 2 (MODY2). 23295287 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease CLINVAR Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. 22611063 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE Although the literature indicates that ancestral mutations in the glucokinase (GCK) gene are rare, we have detected a high frequency of four prevalent mutations that together are responsible for over one third of the GCK mutations in our Czech National Register of monogenic diabetes. 22332836 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.500 GeneticVariation disease BEFREE Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. 22035297 2012