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 A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young. 9736233

1998
dbSNP: rs1064794268
rs1064794268
GCK
G 0.700 GeneticVariation CLINVAR "MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of ""neonatal diabetes""?" 11079754

2000
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. 10753050

2000
dbSNP: rs1064794268
rs1064794268
GCK
G 0.700 GeneticVariation CLINVAR High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. 11508276

2001
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. 11508276

2001
dbSNP: rs193922331
rs193922331
GCK ; LOC105375258
G 0.700 GeneticVariation CLINVAR GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). 12442280

2002
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123. 11942313

2002
dbSNP: rs1057524900
rs1057524900
GCK
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
dbSNP: rs1057524901
rs1057524901
GCK
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
dbSNP: rs1057524902
rs1057524902
GCK
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
dbSNP: rs1057524905
rs1057524905
GCK ; LOC105375258
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
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: rs193929375
rs193929375
GCK
0.010 GeneticVariation BEFREE Both parents were heterozygous for R397L and had mild hyperglycemia. 15644838

2005
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: rs1057524900
rs1057524900
GCK
T 0.700 GeneticVariation CLINVAR Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. 16602010

2006
dbSNP: rs1057524903
rs1057524903
GCK ; LOC105375258
C 0.700 CausalMutation CLINVAR From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 16731834

2006
dbSNP: rs1057524905
rs1057524905
GCK ; LOC105375258
T 0.700 CausalMutation CLINVAR Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 16965331

2006
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 16965331

2006
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients. 16632067

2006
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR Glucokinase mutations in young children with hyperglycemia. 16444761

2006
dbSNP: rs193922331
rs193922331
GCK ; LOC105375258
G 0.700 GeneticVariation CLINVAR From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 16731834

2006
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: rs1057524900
rs1057524900
GCK
T 0.700 GeneticVariation CLINVAR Six novel mutations in the GCK gene in MODY patients. 17204055

2007
dbSNP: rs1057524904
rs1057524904
GCK ; LOC105375258
A 0.700 GeneticVariation CLINVAR Six novel mutations in the GCK gene in MODY patients. 17204055

2007