Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 22 0.16 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 28 0.14 3 4.2E-02
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 4 18 0.13 2 3.3E-02
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 		24 0 15 0.12 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 31 0.12 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 14 0.11 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 15 0.11 0 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		61 8 18 0.11 3 4.7E-02
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 13 0.11 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 13 0.11 0 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		18 0 13 0.11 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 14 0.10 0 0
CUI: C1834536
Disease: Weakness of the intrinsic hand muscles
Weakness of the intrinsic hand muscles 		21 0 13 0.10 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 8 22 0.10 1 1.5E-02
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 12 0.10 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 12 0.10 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 45 26 1.0E-01 5 5.1E-02
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 12 9.9E-02 0 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		16 0 12 9.8E-02 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		17 0 12 9.8E-02 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 5 17 9.7E-02 1 1.6E-02
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		19 0 12 9.6E-02 0 0
CUI: C0013144
Disease: Drowsiness
Drowsiness 		31 0 13 9.6E-02 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 15 9.6E-02 3 4.7E-02
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 17 9.1E-02 0 0