GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Maturity onset diabetes mellitus in young ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144723656
rs144723656
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 GeneticVariation CLINVAR Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase. 28842611 2017
dbSNP: rs144723656
rs144723656
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 GeneticVariation CLINVAR Virtual Screening and Prediction of Binding of Caprine CSN1S2 Protein Tryptic Peptides to Glucokinase. 29284910 2017
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes. 27080136 2016
dbSNP: rs144723656
rs144723656
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. 25555642 2015
dbSNP: rs193922331
rs193922331
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		G 0.700 GeneticVariation CLINVAR Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. 25555642 2015
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. 25306193 2014
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital. 25414397 2014
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. 25015100 2014
dbSNP: rs193922331
rs193922331
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		G 0.700 GeneticVariation CLINVAR Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2). 24578721 2014
dbSNP: rs193922331
rs193922331
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		G 0.700 GeneticVariation CLINVAR GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. 22820548 2012
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation. 22389783 2011
dbSNP: rs193922331
rs193922331
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		G 0.700 GeneticVariation CLINVAR Generation of N-ethyl-N-nitrosourea (ENU) diabetes models in mice demonstrates genotype-specific action of glucokinase activators. 21921030 2011
dbSNP: rs193922331
rs193922331
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		G 0.700 GeneticVariation CLINVAR Mutational analysis of allosteric activation and inhibition of glucokinase. 21831042 2011
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Prevalence and clinical phenotype of the p.Val226Met glucokinase gene mutation in French Canadians in Quebec, Canada. 17079173 2007
dbSNP: rs193922331
rs193922331
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		G 0.700 GeneticVariation CLINVAR From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 16731834 2006
dbSNP: rs144723656
rs144723656
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 GeneticVariation CLINVAR Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 15277402 2004
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. 12627330 2003
dbSNP: rs193922331
rs193922331
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		G 0.700 GeneticVariation CLINVAR GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). 12442280 2002
dbSNP: rs144723656
rs144723656
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 GeneticVariation CLINVAR A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. 10753050 2000
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype. 10426385 1999
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis. 10525657 1999
dbSNP: rs148311934
rs148311934
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. 9049484 1997
dbSNP: rs104894008
rs104894008
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1562719705
rs1562719705
Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		A 0.700 CausalMutation CLINVAR