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: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 17 0.40 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 40 26 0.36 1 2.4E-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 16 0.33 0 0
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		18 0 14 0.31 0 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		18 0 14 0.31 0 0
CUI: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		12 0 11 0.26 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 23 0.25 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 11 0.25 0 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea 		14 0 11 0.25 0 0
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness 		10 0 10 0.24 0 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw 		11 0 10 0.24 0 0
CUI: C4022168
Disease: EMG: impaired neuromuscular transmission
EMG: impaired neuromuscular transmission 		11 0 10 0.24 0 0
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		12 0 10 0.23 0 0
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 0 10 0.23 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 15 0.22 0 0
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		14 0 10 0.22 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 15 0.22 0 0
CUI: C0038450
Disease: Stridor
Stridor 		31 0 13 0.22 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 10 0.22 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 16 0.22 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 15 0.21 0 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		16 0 10 0.21 0 0
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		12 0 9 0.20 0 0
CUI: C0010520
Disease: Cyanosis
Cyanosis 		54 0 16 0.20 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 9 0.20 0 0