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: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		phenotype Finding 13 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: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype Finding 39 3 0.100 None 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype Finding 30 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 117 1 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: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.100 None 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype Finding 117 0.100 None 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype Finding 42 5 0.100 None 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		disease Nervous System Diseases Disease or Syndrome 48 5 0.100 None 0
CUI: C1834536
Disease: Weakness of the intrinsic hand muscles
Weakness of the intrinsic hand muscles 		phenotype Finding 21 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype Finding 74 5 0.100 None 0
CUI: C1837122
Disease: Myasthenic Syndrome, Congenital, Fast-Channel
Myasthenic Syndrome, Congenital, Fast-Channel 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1864238
Disease: Prolonged miniature endplate currents
Prolonged miniature endplate currents 		phenotype Finding 3 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
CUI: C3151525
Disease: Hypoplastic heart
Hypoplastic heart 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 3 0.100 None 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		phenotype Finding 19 0.100 None 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype Respiratory Tract Diseases Finding 85 3 0.100 None 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.100 None 0