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: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 40 0.32 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 15 0.25 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 21 0.25 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 12 0.23 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 17 0.22 0 0
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		17 4 12 0.22 1 0.14
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 22 0.22 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 18 0.22 1 1.0E-01
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 14 0.22 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 16 0.21 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 0 14 0.21 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 11 0.21 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 28 0.21 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 23 0.21 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 27 0.20 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 2 13 0.20 1 0.20
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 17 0.20 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 13 0.19 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 17 0.19 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 18 0.19 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 19 0.19 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 10 0.19 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 15 0.19 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 12 0.18 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 10 0.18 0 0