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: 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: C0042571
Disease: Vertigo
Vertigo
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.100 None 0
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 96 19 0.100 None 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 0.100 None 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 1999 1999
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.300 None 1.000 1 2010 2010
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.010 None 1.000 1 2012 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.010 None 1.000 1 2014 2014
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
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
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses
disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.010 None 1.000 1 2017 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2017 2017
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: 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: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.410 None 1.000 2 2010 2018
CUI: C0030552
Disease: Paresis
Paresis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 2018 2018
CUI: C0741933
Disease: cardiac symptom
cardiac symptom
phenotype Sign or Symptom 9 2 0.010 None 1.000 1 2018 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2018 2018
CUI: C1404521
Disease: Limb-girdle myopathy
Limb-girdle myopathy
disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.040 None 1.000 4 2015 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
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: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019