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: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness 		10 0 10 0.20 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 0.19 0 0
CUI: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		12 0 10 0.19 0 0
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 0 10 0.19 0 0
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		14 0 10 0.19 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 10 0.19 0 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea 		14 0 10 0.19 0 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		16 0 10 0.18 0 0
CUI: C0038450
Disease: Stridor
Stridor 		31 7 12 0.17 1 3.2E-02
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 10 0.16 0 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 0 10 0.15 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 13 0.15 0 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 9 0.15 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 10 0.14 0 0
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		32 0 10 0.14 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 11 0.14 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 12 0.14 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 4 11 0.14 1 3.6E-02
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		49 0 11 0.12 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 10 0.12 0 0
CUI: C0010520
Disease: Cyanosis
Cyanosis 		54 0 11 0.12 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 11 0.12 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 16 0.12 2 3.7E-02