GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Glucokinase is thought to play a glucose-sensor role in the pancreas, and abnormalities in its structure, function, and regulation can induce diabetes. 1464666 1992
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 AlteredExpression group BEFREE Glucokinase (GK) is an important enzyme for regulating blood glucose levels and a potentially attractive target for diabetes of the young type 2 and persistent hyperinsulinemic hypoglycemia of infancy. 16938872 2006
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Glucokinase (GCK) acts as a glucose sensor and stimulates the release of insulin from pancreatic β-cells and any GCK gene mutations can lead to different forms of diabetes, such as GCK-monogenic diabetes of the young type 2 (MODY2), permanent neonatal diabetes and congenital hyperinsulinism. 23890519 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Glucokinase MODY and implications for treatment goals of common forms of diabetes. 25344793 2014
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE GCK-MODY carriers were found in a frequency of 3% among 1043 diabetes mellitus (DM) patients and constituted the second most numerous group of DM patients, following type 1 DM, in our centre. 28663157 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 AlteredExpression group BEFREE Glucokinase (GK) plays a vital role in the control of blood glucose levels and its altered activity can lead to the development of forms of diabetes. 30087826 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Glucokinase is not the cause of diabetes in all of these families but was excluded in only one MODY family. 7705022 1994
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE A genetic variant near the glucokinase gene (rs4607517) was significantly associated with progression to prediabetes or diabetes (hazard ratio 1·27, 1·16-1·38; p=1·70 × 10(-7)). 26577716 2016
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE A high proportion of the female patients who are members of maturity onset diabetes of the young (MODY) pedigrees, and whose diabetes mellitus is due to a glucokinase mutation, originally presented with gestational diabetes. 8932999 1996
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE All of the five known MODY genes, HNF-4alpha, glucokinase, HNF-1alpha, HNF-1beta, and IPF1, were previously excluded as being the cause of diabetes in these families. 10868949 2000
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE All patients with MODY-2 or MODY-3 had a family history of diabetes. 20172480 2010
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Among 115 Scandinavian families, mutations in the HNF-1alpha gene represented the most common cause of familial early-onset ( </= 40 years) diabetes: MODY3 (5.2 %) more than MODY2 (3.5 %) more than MIDD (2.6 %) more than MODY1 (1.7 %). 10447526 1999
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Among patients with neonatal diabetes (i.e. with onset within first 6 months of life) and patients with Maturity Onset Diabetes of the Young (MODY; an autosomal dominant form of diabetes), those carrying mutations in KCNJ11, ABCC8, HNF1A and HNF4A genes usually respond to oral therapy with sulphonylurea, while those bearing GCK mutations do not necessitate any treatment. 30086875 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Analysis of four GCK-MODY patients revealed a metabolite pattern similar to that of healthy individuals, while other forms of diabetes differed markedly in their metabolite profiles. 23139355 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Because gestational diabetes mellitus was a clinical feature associated with glucokinase mutations, we have screened a group of women with gestational diabetes who also had a first-degree relative with diabetes mellitus for the presence of mutations in this gene. 8495817 1993
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Because pharmacological glucokinase activators are evaluated for the treatment of diabetes, the aim of the study was to assess if these polymorphisms could provide evidence for an increased cardiovascular risk of long-term glucokinase activation. 20352598 2010
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Biochemical genetic studies have characterized many activating and inactivating GK mutants that have been discovered in patients with hyperinsulinemic hypoglycemia or diabetes, all inherited as autosomal dominant traits. 12475782 2002
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Cases of diabetes that are caused by GCK mutations may not be as rare in Japanese subjects as previously described and could be found in patients tentatively diagnosed as type 2 diabetes. 21720051 2011
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Clinical characteristics for 30 patients with diabetes due to homozygous GCK mutations (19 unique mutations, including 16 missense) were compiled and assigned a clinical severity grade (CSG) based on birth weight and age at diagnosis. 25015100 2014
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Clinical characteristics in the subjects with glucokinase gene mutations are similar to those in Caucasian subjects; diabetes mellitus is generally mild and some patients actually remain as having impaired glucose tolerance. 7859592 1994
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). 16026363 2005
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Clinical information and blood for GCK gene analysis were obtained from grandparents with diabetes. 29510678 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Conversely, exogenous insulin or gene transfer for insulin or glucokinase alone failed to achieve complete correction of diabetes, indicating that the synergistic action of insulin and glucokinase is needed for full therapeutic effect. 23378612 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Conversely, homozygous subjects for the variant allele (A) in the GCK gene had significantly lower TAG (GG+GA: 1.48 (SD 0.03) mmol/l v. AA: 1.17 (SD 0.18) mmol/l; P= 0.033) and a higher risk of diabetes (OR 3.3, 95 % CI 1.2, 9.2). 22716779 2013