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: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 1 25 0.26 1 0.25
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 15 0.25 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 16 0.24 0 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 17 0.24 0 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 		24 0 16 0.23 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 13 0.21 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 18 0.21 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 14 0.21 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 23 0.21 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 14 0.20 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		17 0 13 0.20 0 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		19 0 13 0.19 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 12 0.19 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 12 0.19 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 17 0.19 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 12 0.19 0 0
CUI: C0018979
Disease: Hemianopsia
Hemianopsia 		41 0 16 0.19 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 12 0.18 0 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		16 0 12 0.18 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 14 0.18 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 40 18 0.18 1 2.3E-02
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes 		31 0 14 0.18 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 12 0.18 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 12 0.18 0 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		18 0 12 0.18 0 0