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