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: C1836472
Disease: Nemaline myopathy 6
Nemaline myopathy 6
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 5 0.700 None 1.000 2 5 2003 2010
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2010 2010
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy
disease Disease or Syndrome 21 2 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype Finding 87 6 0.100 None 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content
phenotype Finding 14 0.100 None 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia
phenotype Infections; Nervous System Diseases; Stomatognathic Diseases Finding 42 4 0.100 None 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 42 3 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0560346
Disease: Difficulty running
Difficulty running
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 3 0.100 None 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness
phenotype Finding 30 0.100 None 0
Increased variability in muscle fiber diameter
phenotype Finding 50 4 0.100 None 0
CUI: C1850573
Disease: Slender build
Slender build
phenotype Pathological Conditions, Signs and Symptoms Finding 31 2 0.100 None 0
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia
disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 2 0.100 None 0
Fatigable weakness of bulbar muscles
phenotype Finding 14 0.100 None 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function 115 16 0.100 None 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies
phenotype Finding 15 0.100 None 0
Respiratory insufficiency due to muscle weakness
phenotype Respiratory Tract Diseases Finding 85 3 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity
phenotype Finding 55 3 0.100 None 0
CUI: C1856507
Disease: Bulbar signs
Bulbar signs
phenotype Finding 33 1 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype Finding 165 0.100 None 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
phenotype Finding 44 0.100 None 0