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 0.76 0 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		18 0 16 0.76 0 0
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness 		10 0 9 0.45 0 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw 		11 0 9 0.43 0 0
CUI: C4022168
Disease: EMG: impaired neuromuscular transmission
EMG: impaired neuromuscular transmission 		11 0 9 0.43 0 0
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		12 0 9 0.41 0 0
CUI: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		12 0 9 0.41 0 0
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 0 9 0.41 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 17 0.40 0 0
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		14 0 9 0.38 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 9 0.38 0 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea 		14 0 9 0.38 0 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		16 0 9 0.35 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 0 19 0.33 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 10 0.30 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 9 0.29 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 13 0.28 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 7 0.26 0 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 0 9 0.26 0 0
CUI: C0038450
Disease: Stridor
Stridor 		31 0 10 0.25 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 6 0.23 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 6 0.23 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 6 0.23 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 9 0.23 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 17 0.22 0 0