Monogenic diabetes
|
|
0.700 |
GeneticVariation
|
CLINVAR |
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 |
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
|
25015100 |
2014 |
Hyperglycemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
|
25015100 |
2014 |
Hyperglycemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
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 |
Hyperglycemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
|
22493702 |
2012 |
Monogenic diabetes
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Both our functional and genetic studies support R43H as the cause of GCK-MODY and G68D as a neutral rare variant.
|
22611063 |
2012 |
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 |
Monogenic diabetes
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
|
22493702 |
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 |
Hyperglycemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients.
|
19358091 |
2009 |
Monogenic diabetes
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients.
|
19358091 |
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 |
Monogenic diabetes
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
|
17573900 |
2007 |
Hyperglycemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
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 |
Hyperglycemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123.
|
11942313 |
2002 |
Monogenic diabetes
|
|
0.700 |
GeneticVariation
|
CLINVAR |
To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123.
|
11942313 |
2002 |
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 |