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 Biomarker disease GENOMICS_ENGLAND Prevalence of exertional rhabdomyolysis in endurance horses in the Pacific Northwestern United States. 24579562 2015
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
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: 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 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: 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 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: 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 The Met416Val polymorphism of GYS1 gene was not significantly associated with the risk of type 2 DM (adjusted OR = 1.67; 95% CI: 0.73 - 3.81, P = 0.223). 12411100 2002
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: 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: 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