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: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 13 0.27 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 10 23 0.26 1 2.0E-02
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 49 15 0.23 2 2.2E-02
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 14 0.23 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 11 0.21 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		10 0 9 0.19 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 14 0.19 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 14 0.18 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 9 0.17 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 9 0.17 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 15 0.17 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 14 0.17 0 0
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		44 110 13 0.17 1 6.6E-03
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 10 0.15 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 8 0.15 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 8 0.15 0 0
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset 		7 0 7 0.15 0 0
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		9 4 7 0.14 2 4.5E-02
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 20 0.14 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 19 0.13 0 0
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		12 0 7 0.13 0 0
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		21 0 8 0.13 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 0 9 0.13 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 9 0.13 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 10 0.13 0 0