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: C3501858
Disease: Muscular Dystrophy, Limb-Girdle, Type 1D
Muscular Dystrophy, Limb-Girdle, Type 1D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 2 2012 2012
CUI: C4721885
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 		disease Disease or Syndrome 1 8 0.600 None 1.000 2 8 2012 2012
CUI: C3670683
Disease: Skeletal muscle fibrosis
Skeletal muscle fibrosis 		phenotype Pathologic Function 1 0.100 None 0
CUI: C4021663
Disease: Abnormality of muscle fibers
Abnormality of muscle fibers 		phenotype Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C3148763
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.310 None 1.000 1 2014 2014
CUI: C0751359
Disease: Percussion Myotonia
Percussion Myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		phenotype Finding 13 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 0.010 None 1.000 1 2014 2014
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 0.010 None 1.000 1 2014 2014
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 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 1
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		phenotype Finding 28 2 0.100 None 0 1
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 18 0.010 None 1.000 1 2018 2018
CUI: C0270952
Disease: Muscular Dystrophy, Oculopharyngeal
Muscular Dystrophy, Oculopharyngeal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 2008 2008
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype Finding 37 11 0.100 None 0
CUI: C2718001
Disease: Protein Misfolding Disorders
Protein Misfolding Disorders 		disease Nutritional and Metabolic Diseases Disease or Syndrome 38 1 0.010 None 1.000 1 2018 2018
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		phenotype Finding 39 4 0.100 None 0
CUI: C0334287
Disease: Fibrolamellar Hepatocellular Carcinoma
Fibrolamellar Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 46 0.010 None 1.000 1 2019 2019
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 0 1
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		phenotype Pathological Conditions, Signs and Symptoms Finding 51 7 0.100 None 0 1
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype Finding 54 8 0.100 None 0
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.130 None 1.000 3 1 2016 2016
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 87 1 0.010 None 1.000 1 2008 2008
CUI: C0231712
Disease: Waddling gait
Waddling gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 113 8 0.100 None 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype Finding 117 0.100 None 0