GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Diabetes mellitus autosomal dominant type II (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. 25015100 2014
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects. 23295292 2012
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. 22060211 2012
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256 2009
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 19884385 2009
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus. 19309449 2009
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. 18382660 2008
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. 18399931 2008
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2). 18411240 2008
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients. 18322640 2008
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. 17573900 2007
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Glucokinase mutations in young children with hyperglycemia. 16444761 2006
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 16965331 2006
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 16965331 2006
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients. 16632067 2006
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Neonatal diabetes mellitus due to complete glucokinase deficiency. 11372010 2001
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. 11508276 2001
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. 10753050 2000
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus. 11106831 2000
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY. 10588527 1999
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the glucokinase gene of the fetus result in reduced birth weight. 9662401 1998
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online. 10694920 1998
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. 9049484 1997
dbSNP: rs1085307455
rs1085307455
Entrez Id: 2645;105375258
Gene Symbol: GCK;LOC105375258
GCK;LOC105375258
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects. 8878425 1996