|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
|
25015100 |
2014 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.
|
18322640 |
2008 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
|
17573900 |
2007 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
|
16965331 |
2006 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Neonatal diabetes mellitus due to complete glucokinase deficiency.
|
11372010 |
2001 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.
|
11106831 |
2000 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
|
9662401 |
1998 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
|
9049484 |
1997 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.
|
8878425 |
1996 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.
|
8168652 |
1994 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of glucokinase mutations in subjects with gestational diabetes mellitus.
|
8495817 |
1993 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.
|
8446612 |
1993 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
|
1303265 |
1992 |