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: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 1 22 0.29 1 0.20
CUI: C3807025
Disease: Intermittent episodes of respiratory insufficiency due to muscle weakness
Intermittent episodes of respiratory insufficiency due to muscle weakness 		14 0 13 0.27 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 18 0.25 0 0
CUI: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		12 0 11 0.22 0 0
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 0 11 0.22 0 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 0 13 0.22 0 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea 		14 0 11 0.22 0 0
CUI: C0038450
Disease: Stridor
Stridor 		31 0 14 0.22 0 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		60 0 19 0.21 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 29 0.21 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 18 0.21 0 0
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness 		10 0 10 0.21 0 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		16 0 11 0.21 0 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw 		11 0 10 0.20 0 0
CUI: C4022168
Disease: EMG: impaired neuromuscular transmission
EMG: impaired neuromuscular transmission 		11 0 10 0.20 0 0
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		12 0 10 0.20 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 29 0.20 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 26 0.19 0 0
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		14 0 10 0.19 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 14 0.19 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 14 0.19 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 12 0.18 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 16 0.18 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 0 16 0.18 0 0
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		13 0 9 0.17 0 0