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: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction
phenotype Pathologic Function 16 1 0.100 None 0
Centrally nucleated skeletal muscle fibers
phenotype Finding 25 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
phenotype Finding 23 1 0.100 None 0
Urinary bladder sphincter dysfunction
phenotype Finding 28 1 0.100 None 0
Increased variability in muscle fiber diameter
phenotype Finding 50 4 0.100 None 0
CUI: C0027121
Disease: Myositis
Myositis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.100 None 0
CUI: C0026884
Disease: Mutism
Mutism
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 47 4 0.100 None 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
phenotype Finding 28 2 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: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C4721411
Disease: Osteolysis
Osteolysis
phenotype Musculoskeletal Diseases Pathologic Function 62 0.100 None 0
CUI: C0521670
Disease: Cranial nerve compression
Cranial nerve compression
disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 19 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy
phenotype Cell or Molecular Dysfunction 25 2 0.100 None 0
CUI: C0869474
Disease: Dyscalculia
Dyscalculia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
disease Disease or Syndrome 56 6 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0