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: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		32 0 17 0.27 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 7 32 0.26 1 5.9E-02
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness 		10 0 10 0.20 0 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		29 8 13 0.20 3 0.19
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: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		12 0 10 0.20 0 0
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 0 10 0.20 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: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 11 0.19 0 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		16 0 10 0.18 0 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 0 11 0.17 0 0
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		13 3 9 0.17 3 0.27
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 4 17 0.17 2 0.15
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 14 0.16 0 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		86 5 19 0.16 1 6.7E-02
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 16 23 0.16 2 8.0E-02
CUI: C0038450
Disease: Stridor
Stridor 		31 0 11 0.16 0 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		46 11 13 0.16 1 4.8E-02
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 14 0.16 0 0
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		48 0 13 0.15 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 13 0.15 0 0