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: C2230441
Disease: Triceps weakness
Triceps weakness
phenotype Finding 18 0.100 None 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.100 None 0
CUI: C2830004
Disease: Somnolence
Somnolence
phenotype Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 87 8 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype Finding 54 8 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
phenotype Finding 74 5 0.100 None 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness
phenotype Finding 30 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
disease Disease or Syndrome 56 6 0.100 None 0
Decreased miniature endplate potentials
phenotype Finding 13 0.100 None 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence
phenotype Disease or Syndrome 39 0.100 None 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
phenotype Finding 44 0.100 None 0
Weakness of the intrinsic hand muscles
phenotype Finding 21 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 121 8 0.100 None 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity
phenotype Finding 29 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 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: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle
phenotype Anatomical Abnormality 17 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