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: C4310645
Disease: MYOPATHY, MYOFIBRILLAR, 8
MYOPATHY, MYOFIBRILLAR, 8 		disease Disease or Syndrome 1 5 0.700 definitive 1.000 4 5 2016 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.410 strong 1.000 2 1 2016 2019
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.320 None 1.000 2 1 2018 2019
CUI: C4551520
Disease: Intention tremor
Intention tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 20 6 0.100 None 0 1
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype Finding 93 3 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 1
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0 1
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0 1
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 1 0.100 None 0 1
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		disease Disease or Syndrome 56 6 0.100 None 0 1
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype Finding 74 5 0.100 None 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 1
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 32 6 0.100 None 0 1
CUI: C1860121
Disease: Decreased testosterone in males
Decreased testosterone in males 		phenotype Finding 2 3 0.100 None 0 1
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		phenotype Finding 15 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		phenotype Finding 73 3 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: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 49 1 0.100 None 0
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 187 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 1
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 1