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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.010 AlteredExpression disease BEFREE Gene expression changes that were common to all three cell types included up-regulation of GCK (glucokinase), CS (citrate synthase), HOX1 (heme oxygenase 1), CKMT2 (mitochondrial creatine kinase 2), MYC (v-myc myelocytomatosis viral oncogene homolog), and WRN (Werner syndrome helicase), and down-regulation of FBP1 (fructose-1, 6-bisphosphatase 1) and COL4A1 (collagen, type IV, alpha 1). 15561107 2005
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease. 30525989 2018
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.100 Biomarker phenotype HPO
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		0.100 Biomarker disease HPO
CUI: C3827793
Disease: Transient hypothyroxinaemia of prematurity
Transient hypothyroxinaemia of prematurity 		0.010 AlteredExpression disease BEFREE This study aims to address effects of TCH on mRNA expressions of glucose transporters (GLUTs) and glucokinase (GcK) in islets and insulin target tissues of aged offspring rats. 29073628 2017
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0038433
Disease: Streptozotocin Diabetes
Streptozotocin Diabetes 		0.300 Biomarker disease CTD_human Chronic hyperglycemia, independent of plasma lipid levels, is sufficient for the loss of beta-cell differentiation and secretory function in the db/db mouse model of diabetes. 16123366 2005
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 AlteredExpression disease BEFREE This suggests that increased GCK activity may induce fatty liver and its metabolic and hepatic consequences in humans. 21490074 2011
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 AlteredExpression disease BEFREE The up-regulation of expression of hepatic genes related to liver steatosis (CPT1A, FASN, LEPR, RXRA, IGFBP1, PPARGC1A and SLC2A4) was detected in our rhesus model, as was the down-regulation of such genes (CYP7A1, HMGCR, GCK and PNPLA3) and the up-regulation of expression of hepatic genes related to liver cancer (E2F1, OPCML, FZD7, IGFBP1 and LEF1). 26442469 2015
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 AlteredExpression disease BEFREE Genetic ablation of SIN3A abolishes nutrient regulation of glucokinase without affecting other FOXO1 target genes and lowers glycemia without concurrent steatosis. 29056338 2017
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		0.100 Biomarker phenotype HPO
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.010 Biomarker disease BEFREE Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus. 30086370 2018
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		0.100 Biomarker disease HPO
CUI: C1854114
Disease: Short nose
Short nose 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C4728082
Disease: Severe hypoglycaemia
Severe hypoglycaemia 		0.010 Biomarker disease BEFREE Patients treated with insulin experienced a 23% incidence of severe hypoglycemia and lower birth weights were observed in the insulin-treated, GCK-affected neonates. 30535721 2019
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109 2011
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 Biomarker group BEFREE Here, we report that transgenic GLK promotes tumor metastasis and cell migration through the scaffold protein IQ motif-containing GTPase-activating protein 1(IQGAP1). 31431460 2019