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: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 22 0.30 0 0
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		47 42 23 0.26 1 2.0E-02
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 15 0.23 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 16 0.21 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 19 0.19 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 22 0.19 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 18 0.19 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 17 0.18 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 18 0.18 0 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		40 0 15 0.17 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 25 0.16 0 0
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		44 110 15 0.16 1 8.4E-03
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 11 0.16 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		10 0 10 0.16 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 12 0.16 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 23 0.15 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 14 0.15 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 23 0.15 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 0 13 0.15 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 19 0.15 0 0
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 0 30 0.15 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 0 12 0.15 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 10 0.14 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 14 0.14 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 17 0.14 0 0