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: C1833373
Disease: Inclusion Body Myopathy, Autosomal Recessive
Inclusion Body Myopathy, Autosomal Recessive 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.540 None 1.000 5 2002 2005
CUI: C4022470
Disease: Abnormality of the right hemidiaphragm
Abnormality of the right hemidiaphragm 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1096902
Disease: Infantile Sialic Acid Storage Disease
Infantile Sialic Acid Storage Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 6 0.310 None 1.000 1 2003 2003
CUI: C0429349
Disease: EMG positive sharp waves
EMG positive sharp waves 		phenotype Finding 2 0.100 None 0
CUI: C4022169
Disease: EMG: myotonic discharges
EMG: myotonic discharges 		phenotype Finding 4 3 0.100 None 0
CUI: C1851313
Disease: Limited shoulder movement
Limited shoulder movement 		phenotype Finding 5 2 0.100 None 0
CUI: C1862481
Disease: Limited wrist extension
Limited wrist extension 		phenotype Finding 5 0.100 None 0
CUI: C4022159
Disease: Muscle fiber inclusion bodies
Muscle fiber inclusion bodies 		phenotype Finding 5 1 0.100 None 0
CUI: C4024612
Disease: Tibialis muscle weakness
Tibialis muscle weakness 		phenotype Finding 5 0.100 None 0
CUI: C1864375
Disease: Long hallux
Long hallux 		phenotype Finding 7 0.100 None 0
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype Finding 8 0.100 None 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		phenotype Anatomical Abnormality 8 0.100 None 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0342853
Disease: Sialuria
Sialuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 17 0.760 strong 1.000 40 14 1989 2017
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		phenotype Finding 12 1 0.100 None 0
CUI: C1839615
Disease: X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 14 9 0.020 None 1.000 2 2002 2011
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.020 None 1.000 2 2002 2011
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		disease Finding 16 3 0.100 None 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		phenotype Finding 16 1 0.100 None 0
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		phenotype Finding 17 4 0.100 None 0
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype Finding 18 1 0.100 None 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		phenotype Finding 18 0.100 None 0
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 3 0.010 None 1.000 1 2014 2014
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		phenotype Finding 19 4 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype Finding 25 2 0.100 None 0