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: C0005612
Disease: Birth Weight
Birth Weight
0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASDB A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. 22581228 2012
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. 22581228 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE Recent investigation of somatic variations of allosterically regulated proteins in cancer genomes suggested that variations in glucokinase (GCK) might play a role in tumorigenesis. 30590153 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE Due to the inhibitory function of HPK1/MAP4K1 in T-cell activation and the promoting effects of GLK on tumorigenesis, HPK1 and GLK dual inhibitors could be useful therapeutic drugs for cancer immunotherapy. 31640697 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 Biomarker disease BEFREE Collectively, GLK promotes lung cancer metastasis by binding to, phosphorylating, and activating IQGAP1. 31431460 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 AlteredExpression disease BEFREE In addition, GLK overexpression in cancer tissues is correlated with cancer recurrence of human lung cancer and liver cancer; the predictive power of GLK overexpression for cancer recurrence is higher than that of pathologic stage. 31640697 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 Biomarker group BEFREE Elucidating the molecular basis of ligand-mediated control over the GCK-GKRP interaction is expected to impact the development and future refinement of therapeutic agents for diabetes and cardiovascular disease, which result from improper GKRP regulation of GCK. 28516783 2017
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome
0.010 GeneticVariation disease BEFREE This case raises the question as to whether hyperglycaemia in GCK-MODY may increase the risk of fetal caudal regression syndrome as reported in women with pre-existing diabetes mellitus. 30362177 2019
CUI: C0041234
Disease: Chagas Disease
Chagas Disease
0.010 Biomarker disease BEFREE Glucokinase and hexokinase from pathogenic protozoa Trypanosoma cruzi are potential drug targets for antiparasitic chemotherapy of Chagas' disease. 26778112 2015
CUI: C1720983
Disease: Channelopathies
Channelopathies
0.030 GeneticVariation disease BEFREE In contrast to focal islet-cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward-rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) enzyme inrecessively inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise-induced HI with still-unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism. 15868462 2005
CUI: C1720983
Disease: Channelopathies
Channelopathies
0.030 GeneticVariation disease BEFREE The major causes are channelopathies, the other forms are rare and being caused by mutations in genes such as GCK. 28247534 2017
CUI: C1720983
Disease: Channelopathies
Channelopathies
0.030 GeneticVariation disease BEFREE This can manifest as 'channelopathies' of K(ATP) channels through gene defects in ABCC8 and KCNJ11 (Ch.11p15); or as a result of 'metabolopathies' through defects in the genes encoding glucokinase (GCK, Ch.7p15-p13), glutamate dehydrogenase (GLUD1, Ch.10q23.3) and short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADHSC, Ch.4q22-q26). 14981344 2004
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.020 Biomarker group BEFREE To clarify the association of glucokinase and glucokinase regulatory protein (GCKR) polymorphisms with the risk of CKD in Japan, we examined this association among Japanese individuals using cross-sectional data. 24535998 2014
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.020 Biomarker group BEFREE Effect of Hepatic Organic Anion-Transporting Polypeptide 1B Inhibition and Chronic Kidney Disease on the Pharmacokinetics of a Liver-Targeted Glucokinase Activator: A Model-Based Evaluation. 30919935 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.010 Biomarker disease BEFREE Hexokinase isoenzymes in normal and cirrhotic human liver: suppression of glucokinase in cirrhosis. 9468341 1998
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
0.100 Biomarker disease HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
0.100 Biomarker disease HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
0.100 Biomarker disease HPO
CUI: C0009421
Disease: Comatose
Comatose
0.100 Biomarker phenotype HPO
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
0.010 GeneticVariation group BEFREE To assess the prevalence of diabetes complications and the severity of diabetes in kindreds with NIDDM linked to the MODY3 locus (chromosome 12q) and to compare these parameters with data obtained in glucokinase (GCK)-deficient and other-MODY (unlinked to any of the three known loci) families, as well as with data from families with a late age of onset of NIDDM. 8875082 1996
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker group BEFREE The association between GCK-MODY and congenital abnormalities, however, remains uncertain. 30362177 2019