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: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 24 0.33 0 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 13 0.28 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 19 0.27 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 19 0.26 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 17 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: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		12 0 10 0.23 0 0
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 0 10 0.23 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 13 0.23 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 28 0.22 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 15 0.22 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 28 0.22 0 0
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		14 0 10 0.22 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 10 0.22 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 0.22 0 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea 		14 0 10 0.22 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 28 0.22 1 5.6E-02
CUI: C3809827
Disease: Staring gaze
Staring gaze 		16 0 10 0.21 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 5 15 0.21 1 0.14
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		18 0 10 0.20 0 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		18 0 10 0.20 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 14 0.20 0 0