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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
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
dbSNP: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique. 8168652 1994
dbSNP: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Identification of glucokinase mutations in subjects with gestational diabetes mellitus. 8495817 1993
dbSNP: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants. 8325892 1993
dbSNP: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships. 8446612 1993
dbSNP: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. 1303265 1992
dbSNP: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. 1502186 1992
dbSNP: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 GeneticVariation UNIPROT Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus. 1464666 1992
dbSNP: rs762263694
rs762263694
Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0342277
Disease:
Diabetes mellitus autosomal dominant type II (disorder) 		A 0.800 CausalMutation CLINVAR