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: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV
disease Disease or Syndrome 1 1 0.700 2 1 2010 2012
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2
disease Disease or Syndrome 1 5 0.600 1 5 2015 2015
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 338 30 0.400 1 2010 2010
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 30 9 0.340 1.000 5 2010 2017
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
phenotype Musculoskeletal Diseases Pathologic Function 64 7 0.300 strong 5 2010 2016
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 447 44 0.300 1 2005 2005
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 131 29 0.300 1 2010 2010
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia
phenotype Disease or Syndrome 42 0.300 limited 0
CUI: C1698196
Disease: Muscle weakness of upper limb
Muscle weakness of upper limb
phenotype Finding 9 0.100 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 479 108 0.100 0
CUI: C0748691
Disease: Shoulder weakness
Shoulder weakness
phenotype Finding 13 0.100 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 214 0.100 0
Neurogenic muscle atrophy, especially in the lower limbs
phenotype Finding 214 0.100 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass
phenotype Finding 47 0.100 0
CUI: C1845019
Disease: Left ventricular septal hypertrophy
Left ventricular septal hypertrophy
phenotype Finding 4 0.100 0
CUI: C4227331
Disease: Cardiomyocyte hypertrophy
Cardiomyocyte hypertrophy
phenotype Finding 1 0.100 0
CUI: C4022979
Disease: Decreased muscle glycogen content
Decreased muscle glycogen content
phenotype Finding 2 0.100 0
CUI: C4022492
Disease: Increased mitochondrial number
Increased mitochondrial number
phenotype Finding 1 0.100 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
phenotype Pathologic Function 41 5 0.100 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness
phenotype Finding 8 0.100 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness
phenotype Finding 9 0.100 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness
phenotype Finding 46 2 0.100 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness
phenotype Finding 15 3 0.100 0
CUI: C0520888
Disease: Inverted T wave
Inverted T wave
phenotype Finding 1 0.100 0
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding)
phenotype Finding 5 0.100 0