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: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		18 0 16 0.80 0 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 16 0.76 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 11 0.35 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 8 0.32 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 40 18 0.32 1 2.5E-02
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 14 0.31 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 7 0.29 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 7 0.29 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 7 0.29 0 0
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness 		10 0 6 0.27 0 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw 		11 0 6 0.26 0 0
CUI: C4022168
Disease: EMG: impaired neuromuscular transmission
EMG: impaired neuromuscular transmission 		11 0 6 0.26 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 7 0.26 0 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		16 0 7 0.26 0 0
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		12 0 6 0.25 0 0
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		12 0 6 0.25 0 0
CUI: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		12 0 6 0.25 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		17 0 7 0.25 0 0
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 0 6 0.25 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 7 0.24 0 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		18 0 7 0.24 0 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		19 0 7 0.23 0 0
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		14 0 6 0.23 0 0
CUI: C3807025
Disease: Intermittent episodes of respiratory insufficiency due to muscle weakness
Intermittent episodes of respiratory insufficiency due to muscle weakness 		14 0 6 0.23 0 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea 		14 0 6 0.23 0 0