Gene: GCK ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793998
rs1064793998
GCK
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
dbSNP: rs1064793998
rs1064793998
GCK
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
dbSNP: rs1064793998
rs1064793998
GCK
0.720 GeneticVariation BEFREE The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans. 19187021

2009
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans. 19187021

2009
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. 18399931

2008
dbSNP: rs1064793998
rs1064793998
GCK
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
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 16731834

2006
dbSNP: rs1064793998
rs1064793998
GCK
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
dbSNP: rs1064793998
rs1064793998
GCK
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
dbSNP: rs1064793998
rs1064793998
GCK
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
dbSNP: rs1562715574
rs1562715574
GCK ; LOC105375258
C 0.700 GeneticVariation CLINVAR Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype. 24735133

2015
dbSNP: rs1064794268
rs1064794268
GCK
G 0.700 GeneticVariation CLINVAR ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. 25182307

2014
dbSNP: rs764232985
rs764232985
GCK
T 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
dbSNP: rs1057524900
rs1057524900
GCK
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
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. 22060211

2012
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects. 23295292

2012
dbSNP: rs193922331
rs193922331
GCK ; LOC105375258
G 0.700 GeneticVariation CLINVAR GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. 22820548

2012
dbSNP: rs764232985
rs764232985
GCK
T 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
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. 22493702

2012
dbSNP: rs1057524903
rs1057524903
GCK ; LOC105375258
C 0.700 CausalMutation CLINVAR Insight into the biochemical characteristics of a novel glucokinase gene mutation. 21104275

2011
dbSNP: rs1057524900
rs1057524900
GCK
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
dbSNP: rs1057524901
rs1057524901
GCK
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
dbSNP: rs1057524901
rs1057524901
GCK
C 0.700 GeneticVariation CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152

2009
dbSNP: rs1057524902
rs1057524902
GCK
T 0.700 CausalMutation CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519

2009
dbSNP: rs1057524902
rs1057524902
GCK
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