rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
Diabetes mellitus autosomal dominant type II (disorder)
A
0.800
CausalMutation
CLINVAR
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
Diabetes mellitus autosomal dominant type II (disorder)
0.800
GeneticVariation
UNIPROT
Identification of glucokinase mutations in subjects with gestational diabetes mellitus.
8495817
1993
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
Diabetes mellitus autosomal dominant type II (disorder)
0.800
GeneticVariation
UNIPROT
Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.
8878425
1996
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
Diabetes mellitus autosomal dominant type II (disorder)
0.800
GeneticVariation
UNIPROT
Neonatal diabetes mellitus due to complete glucokinase deficiency.
11372010
2001
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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
rs762263694
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
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