GYS1, glycogen synthase 1, 2997

N. diseases: 26; N. variants: 9
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1969054
Disease: Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease 0, Muscle
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 4 0.700 None 1.000 3 4 2007 2015
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 63 16 0.300 limited 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.110 None 1.000 1 2009 2009
CUI: C4022979
Disease: Decreased muscle glycogen content
Decreased muscle glycogen content
phenotype Finding 2 0.100 None 0
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.100 None 0
CUI: C0232310
Disease: P mitrale (finding)
P mitrale (finding)
phenotype Finding 3 0.100 None 0
CUI: C0238705
Disease: Left atrial hypertrophy
Left atrial hypertrophy
disease Finding 3 0.100 None 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
phenotype Finding 76 7 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.100 None 0
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.090 None 0.778 9 3 1994 2007
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.030 None 1.000 3 1999 2007
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.030 None 1.000 3 2000 2018
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.020 None 1.000 2 2017 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2015 2015
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 62 15 0.010 None 1.000 1 2000 2000
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2007 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2018 2018
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2017 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2017 2017
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 1997 1997
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2012 2012
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.010 None 1.000 1 2000 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 1999 1999
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.010 None 1.000 1 1997 1997