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: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 10 0.31 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 16 0.29 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 14 0.25 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 13 0.23 0 0
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		47 0 14 0.23 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 8 0.23 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 8 0.22 0 0
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 0 8 0.22 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 8 0.22 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 16 0.21 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 9 0.20 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 13 0.20 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 19 0.20 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 7 0.20 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 7 0.20 0 0
CUI: C4022585
Disease: Fatigable weakness of distal limb muscles
Fatigable weakness of distal limb muscles 		8 0 6 0.20 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 7 0.20 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 10 0.20 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 12 0.19 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 16 0.19 0 0
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		10 0 6 0.19 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 13 0.19 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 12 0.18 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 0 7 0.18 0 0
CUI: C4073139
Disease: Abnormality of the tongue muscle
Abnormality of the tongue muscle 		5 0 5 0.18 0 0