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 0 26 0.33 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 24 0.33 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 26 0.33 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 39 0.30 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 21 0.25 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 32 0.24 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 13 0.23 0 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 0 15 0.23 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 26 0.23 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 31 0.23 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 17 0.21 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 18 0.21 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 12 0.21 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 17 0.21 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 29 0.20 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 19 0.19 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 29 0.19 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 13 0.19 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 20 0.19 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 13 0.18 0 0
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness 		10 0 10 0.18 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 17 0.18 0 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw 		11 0 10 0.18 0 0
CUI: C4022168
Disease: EMG: impaired neuromuscular transmission
EMG: impaired neuromuscular transmission 		11 0 10 0.18 0 0
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		12 0 10 0.18 0 0