|
rs1064793998
|
|
Hyperglycemia
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.
|
27271189 |
2016 |
|
rs1064793998
|
|
Hyperglycemia
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
|
19790256 |
2009 |
|
rs1064793998
|
|
Hyperglycemia
|
|
0.720 |
GeneticVariation
|
BEFREE |
The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans.
|
19187021 |
2009 |
|
rs1064793998
|
|
Hyperglycemia
|
T |
0.720 |
CausalMutation
|
CLINVAR |
The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans.
|
19187021 |
2009 |
|
rs1064793998
|
|
Hyperglycemia
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
|
18399931 |
2008 |
|
rs1064793998
|
|
Hyperglycemia
|
T |
0.720 |
CausalMutation
|
CLINVAR |
These results suggest that cellular loss of GK catalytic activity rather than impaired translation or enhanced protein degradation may account for the hyperglycemia in subjects with V62M and G72R mutations.
|
17389332 |
2007 |
|
rs1064793998
|
|
Hyperglycemia
|
T |
0.720 |
CausalMutation
|
CLINVAR |
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
|
16731834 |
2006 |
|
rs1064793998
|
|
Hyperglycemia
|
|
0.720 |
GeneticVariation
|
BEFREE |
We conclude that V62M may cause hyperglycemia by a complex defect of GCK regulation involving instability in combination with loss of control by a putative endogenous activator and/or GKRP.
|
15677479 |
2005 |
|
rs1064793998
|
|
Hyperglycemia
|
T |
0.720 |
CausalMutation
|
CLINVAR |
We studied the GCK V62M mutation identified in two families and co-segregating with hyperglycemia to understand how this mutation resulted in reduced function.
|
15677479 |
2005 |
|
rs1064793998
|
|
Hyperglycemia
|
T |
0.720 |
CausalMutation
|
CLINVAR |
A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.
|
9736233 |
1998 |
|
rs1057524900
|
|
Hyperglycemia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort.
|
22035297 |
2012 |
|
rs1057524900
|
|
Hyperglycemia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
|
20337973 |
2010 |
|
rs1057524900
|
|
Hyperglycemia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Six novel mutations in the GCK gene in MODY patients.
|
17204055 |
2007 |
|
rs1057524900
|
|
Hyperglycemia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.
|
16602010 |
2006 |
|
rs1057524900
|
|
Hyperglycemia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
|
14517956 |
2003 |
|
rs1057524901
|
|
Hyperglycemia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
|
19790256 |
2009 |
|
rs1057524901
|
|
Hyperglycemia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.
|
19150152 |
2009 |
|
rs1057524901
|
|
Hyperglycemia
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
|
14517946 |
2003 |
|
rs1057524902
|
|
Hyperglycemia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
|
19339519 |
2009 |
|
rs1057524902
|
|
Hyperglycemia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
|
19790256 |
2009 |
|
rs1057524902
|
|
Hyperglycemia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
|
14517946 |
2003 |
|
rs1057524903
|
|
Hyperglycemia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Insight into the biochemical characteristics of a novel glucokinase gene mutation.
|
21104275 |
2011 |
|
rs1057524903
|
|
Hyperglycemia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
|
18399931 |
2008 |
|
rs1057524903
|
|
Hyperglycemia
|
C |
0.700 |
CausalMutation
|
CLINVAR |
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
|
16731834 |
2006 |
|
rs1057524904
|
|
Hyperglycemia
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
|
19790256 |
2009 |