GYS1, glycogen synthase 1, 2997

N. diseases: 26; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969054
Disease: Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease 0, Muscle 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C1969054
Disease: Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease 0, Muscle 		0.700 GeneticVariation disease CLINVAR
CUI: C1969054
Disease: Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease 0, Muscle 		0.700 Biomarker disease CTD_human
CUI: C1969054
Disease: Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease 0, Muscle 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1969054
Disease: Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease 0, Muscle 		0.700 CausalMutation disease CLINVAR
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 Biomarker group HPO
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.100 Biomarker group HPO
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.100 Biomarker disease HPO
CUI: C0232310
Disease: P mitrale (finding)
P mitrale (finding) 		0.100 Biomarker phenotype HPO
CUI: C0238705
Disease: Left atrial hypertrophy
Left atrial hypertrophy 		0.100 Biomarker disease HPO
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.100 Biomarker phenotype HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C4022979
Disease: Decreased muscle glycogen content
Decreased muscle glycogen content 		0.100 Biomarker phenotype HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 Biomarker disease BEFREE Insulin increased GYS1 messenger ribonucleic acid (mRNA) expression in control subjects (from 0.14 +/- 0.02 to 1.74 +/- 0.10 relative units; P < 0.01) and in nondiabetic (from 0.24 +/- 0.05 to 1.81 +/- 0.16 relative units; P < 0.01) and diabetic (from 0.20 +/- 0.07 to 1.08 + 0.14 relative units; P < 0.01) twins. 10770201 2000
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.030 GeneticVariation disease BEFREE Association of GYS1 and beta(3)-AR gene with postprandial hyperglycemia and serum uric acid in type 2 diabetes mellitus. 12411100 2002
CUI: C1969054
Disease: Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease 0, Muscle 		0.700 Biomarker disease GENOMICS_ENGLAND Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. 17928598 2007
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 Biomarker group BEFREE Children with abnormal cardiac responses to increased workloads as well as those with defined myocardial disease should therefore be tested for GYS1 deficiency. 19699667 2009
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 GeneticVariation group BEFREE Equine type 1 polysaccharide storage myopathy (PSSM1) is associated with a missense mutation (R309H) in the glycogen synthase (GYS1) gene, enhanced glycogen synthase (GS) activity and excessive glycogen and amylopectate inclusions in muscle. 27592162 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.030 AlteredExpression disease BEFREE Experiment 2 showed lower Glut1, Gys1 and Mct4 expression and higher Mct1 expression in the hyperglycemia group, relative to the control group (p < 0.05). 29532970 2018
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.010 Biomarker disease BEFREE In conclusion, (1) TG overexpressing GLUT4 exhibit greater muscle glycogen content at rest than WT; (2) during exercise, TG metabolize more carbohydrate, made possible by increased glycogenolysis in muscle and liver, and this predominates as a fuel source despite hypoglycemia and increased availability of FFA; (3) increased carbohydrate metabolism is linked to a decrease in lipid metabolism such that there is no change in overall energy expenditure; and (4) glycogen synthase I activity is inversely proportional to tissue glycogen content despite differences in circulating glucose, insulin, and FFA concentrations, indicating that glycogen content has an overriding regulatory influence on glycogen synthase. 9361698 1997
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.090 GeneticVariation disease BEFREE In conclusion, the M416V polymorphism of GYS1 gene is not associated with insulin resistance in type 2 diabetes. 12870167 2003
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.090 GeneticVariation disease BEFREE In males the GYS1 XbaI T-allele (hazard ratio (HR) 1.9 [1.2-2.9]), T2D (2.5 [1.7-3.8]), earlier CV events (1.7 [1.2-2.5]), physical inactivity (1.9 [1.2-2.9]) and smoking (1.5 [1.0-2.3]) predicted CV mortality. 17356695 2007
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 Biomarker disease BEFREE Inhibition of GYS1 might be a novel therapeutic strategy for chronic inflammatory arthritis, including RA. 30100905 2018
CUI: C1969054
Disease: Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease 0, Muscle 		0.700 Biomarker disease GENOMICS_ENGLAND Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia. 21958591 2012