GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
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: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2
disease Disease or Syndrome 1 7 0.710 strong 1.000 9 7 2010 2018
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV
disease Disease or Syndrome 1 3 0.710 None 1.000 7 3 2010 2020
CUI: C4022492
Disease: Increased mitochondrial number
Increased mitochondrial number
phenotype Finding 2 0.100 None 0
CUI: C4022979
Disease: Decreased muscle glycogen content
Decreased muscle glycogen content
phenotype Finding 2 0.100 None 0
CUI: C1404521
Disease: Limb-girdle myopathy
Limb-girdle myopathy
disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C4227331
Disease: Cardiomyocyte hypertrophy
Cardiomyocyte hypertrophy
phenotype Finding 3 0.100 None 0
CUI: C0520888
Disease: Inverted T wave
Inverted T wave
phenotype Cardiovascular Diseases Finding 4 0.100 None 0
CUI: C0344955
Disease: Ventricular septal hypertrophy
Ventricular septal hypertrophy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 8 3 0.100 None 0
CUI: C0741933
Disease: cardiac symptom
cardiac symptom
phenotype Sign or Symptom 9 2 0.010 None 1.000 1 2018 2018
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 9 0.100 None 0
Ventricular Arrhythmia by ECG Finding
phenotype Laboratory or Test Result 17 0.100 None 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0
phenotype Finding 17 0.100 None 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0
phenotype Finding 17 0.100 None 0
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding)
phenotype Cardiovascular Diseases Finding 23 0.100 None 0
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 29 10 0.010 None 1.000 1 2019 2019
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness
phenotype Finding 30 0.100 None 0
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 39 0.100 None 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness
phenotype Finding 39 4 0.100 None 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 41 3 0.100 None 0
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses
disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.010 None 1.000 1 2017 2017
Generalized glycogen storage disease of infants
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2014 2014
Gerstmann-Straussler-Scheinker Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.010 None 1.000 1 2017 2017
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 60 9 0.100 None 0
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 0.550 limited 1.000 6 2010 2017