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: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 1 18 0.45 1 7.7E-02
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 16 0.40 0 0
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		29 140 18 0.35 2 1.3E-02
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		13 0 13 0.33 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		13 13 13 0.33 8 0.44
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		16 1 13 0.30 1 7.7E-02
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 16 0.28 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 14 0.27 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 10 0.17 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 15 0.17 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 11 0.15 0 0
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		67 0 14 0.15 0 0
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		6 0 6 0.15 0 0
CUI: C4025571
Disease: Type 1 fibers relatively smaller than type 2 fibers
Type 1 fibers relatively smaller than type 2 fibers 		6 0 6 0.15 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 7 0.15 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 11 0.15 0 0
CUI: C3203501
Disease: Hypoactive delirium
Hypoactive delirium 		7 0 6 0.15 0 0
CUI: C0019553
Disease: Hip Contracture
Hip Contracture 		34 0 9 0.14 0 0
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		10 0 6 0.14 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 11 0.13 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 10 0.13 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 14 0.13 0 0
CUI: C1708957
Disease: Mediastinal Paraganglioma
Mediastinal Paraganglioma 		5 0 5 0.12 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 6 0.12 0 0
CUI: C3203503
Disease: Mixed delirium
Mixed delirium 		5 0 5 0.12 0 0