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.
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy
phenotype Finding 27 4 0.100 None 0
Increased variability in muscle fiber diameter
phenotype Finding 50 4 0.100 None 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.100 None 0
CUI: C4022159
Disease: Muscle fiber inclusion bodies
Muscle fiber inclusion bodies
phenotype Finding 5 1 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
phenotype Finding 23 1 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis
phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C0085631
Disease: Agitation
Agitation
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.100 None 0
CUI: C0085633
Disease: Mood swings
Mood swings
disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.100 None 0
Fatigable weakness of respiratory muscles
phenotype Finding 60 0.100 None 0
Fatigable weakness of swallowing muscles
phenotype Finding 39 0.100 None 0
CUI: C0023066
Disease: Laryngospasm
Laryngospasm
disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 0.100 None 0
CUI: C0023015
Disease: Language Disorders
Language Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 94 25 0.100 None 0
Ubiquitin-positive cerebral inclusion bodies
phenotype Laboratory or Test Result 3 0.100 None 0
CUI: C0019559
Disease: Hip joint pain
Hip joint pain
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 24 0.100 None 0
Fatty replacement of skeletal muscle
phenotype Finding 17 4 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
phenotype Finding 87 0.100 None 0
CUI: C4021165
Disease: Abnormality of long bone morphology
Abnormality of long bone morphology
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 10 0.100 None 0
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
phenotype Finding 28 2 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
disease Disease or Syndrome 56 6 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0