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: 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: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype Finding 30 0.100 None 0
CUI: C1853949
Disease: MYASTHENIA, FAMILIAL INFANTILE, 1
MYASTHENIA, FAMILIAL INFANTILE, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1853950
Disease: Generalized hypotonia due to defect at the neuromuscular junction
Generalized hypotonia due to defect at the neuromuscular junction 		phenotype Finding 2 0.100 None 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		phenotype Finding 13 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		phenotype Finding 14 2 0.100 None 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		phenotype Finding 16 1 0.100 None 0
CUI: C4021728
Disease: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 		phenotype Finding 24 0.100 None 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		disease Pathologic Function 34 3 0.100 None 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		phenotype Finding 13 0.100 None 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype Finding 60 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: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 14 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
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		phenotype Finding 19 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: C3277076
Disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0
CUI: C3278148
Disease: BERNARD-SOULIER SYNDROME, TYPE A1
BERNARD-SOULIER SYNDROME, TYPE A1 		disease Disease or Syndrome 2 4 0.100 None 0 4
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		disease Disease or Syndrome 3 5 0.100 None 0 1