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: C4022159
Disease: Muscle fiber inclusion bodies
Muscle fiber inclusion bodies 		5 0 2 0.11 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 6 0.10 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 0 12 9.8E-02 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 12 9.6E-02 0 0
CUI: C0038450
Disease: Stridor
Stridor 		31 0 4 9.3E-02 0 0
CUI: C0085623
Disease: Akinesia
Akinesia 		43 0 5 9.3E-02 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		43 0 5 9.3E-02 0 0
CUI: C0410198
Disease: Proximal myopathy
Proximal myopathy 		8 0 2 9.1E-02 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 5 8.5E-02 0 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		49 0 5 8.3E-02 0 0
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness 		10 0 2 8.3E-02 0 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		10 0 2 8.3E-02 0 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw 		11 0 2 8.0E-02 0 0
CUI: C4022168
Disease: EMG: impaired neuromuscular transmission
EMG: impaired neuromuscular transmission 		11 0 2 8.0E-02 0 0
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		12 0 2 7.7E-02 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 5 7.7E-02 0 0
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 0 2 7.7E-02 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 14 7.6E-02 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 4 7.4E-02 0 0
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle 		13 0 2 7.4E-02 0 0
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		14 0 2 7.1E-02 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 3 7.1E-02 0 0
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		14 0 2 7.1E-02 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 0 3 6.8E-02 0 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		16 0 2 6.7E-02 0 0