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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.090 GeneticVariation disease BEFREE We conclude that mutations of the GSY gene are unlikely to play a major role in the predisposition to NIDDM in our families. 7913686 1994
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.090 GeneticVariation disease BEFREE We have found a significant association of NIDDM with GYS1 genotypes (p = 0.009), and with common GYS1 alleles (p = 0.022) in the Pima Indians. 8721777 1996
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.090 GeneticVariation disease BEFREE These findings indicate that the M416V mutation of the GYS1 gene is one of the factors contributing to the insulin resistance in the Japanese population and may play some role in the pathogenesis of NIDDM. 9267990 1997
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.090 GeneticVariation disease BEFREE The glycogen synthase gene (GYS1), which encodes the rate-limiting enzyme for glycogen synthesis, is a promising candidate gene for NIDDM. 9389424 1997
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 Biomarker disease BEFREE Muscle glycogen synthase (GYS1) is a key enzyme of non-oxidative pathway of glucose metabolism that has been reported to be related to insulin resistance in non-insulin-dependent diabetic (NIDDM) patients. 9267990 1997
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 The A2 allele of the XbaI polymorphism in the GYS1 confers an increased susceptibility to different features of the metabolic syndrome and Type II diabetes. 10447527 1999
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.030 GeneticVariation disease BEFREE The A2 allele of the XbaI polymorphism in the GYS1 confers an increased susceptibility to different features of the metabolic syndrome and Type II diabetes. 10447527 1999
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 GeneticVariation group BEFREE We have previously shown an association between a XbaI polymorphism in the muscle glycogen synthase gene (GYS1) and both Type II (non-insulin-dependent) diabetes mellitus and hypertension. 10447527 1999
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.090 AlteredExpression disease BEFREE We conclude that 1) insulin stimulates GYS1 mRNA expression; and 2) impaired stimulation of GYS1 gene expression by insulin in patients with type 2 diabetes is acquired and most likely is secondary to chronic hyperglycemia. 10770201 2000
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.030 AlteredExpression disease BEFREE We conclude that 1) insulin stimulates GYS1 mRNA expression; and 2) impaired stimulation of GYS1 gene expression by insulin in patients with type 2 diabetes is acquired and most likely is secondary to chronic hyperglycemia. 10770201 2000