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: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 7 0.35 0 0
CUI: C1864449
Disease: Limited neck flexion
Limited neck flexion 		3 0 3 0.27 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 3 0.21 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 4 0.19 0 0
CUI: C1450052
Disease: Tibial Muscular Dystrophy
Tibial Muscular Dystrophy 		2 0 2 0.18 0 0
CUI: C4025568
Disease: Type 1 and type 2 muscle fiber minicore regions
Type 1 and type 2 muscle fiber minicore regions 		2 0 2 0.18 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 4 0.17 0 0
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		3 0 2 0.17 0 0
CUI: C3267178
Disease: Axial myopathy
Axial myopathy 		3 0 2 0.17 0 0
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		10 0 3 0.17 0 0
CUI: C4531255
Disease: Internally nucleated skeletal muscle fibers
Internally nucleated skeletal muscle fibers 		3 0 2 0.17 0 0
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		3 0 2 0.17 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 5 0.16 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 5 0.15 0 0
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		13 0 3 0.14 0 0
CUI: C4024612
Disease: Tibialis muscle weakness
Tibialis muscle weakness 		5 0 2 0.14 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		13 0 3 0.14 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 3 0.14 0 0
CUI: C3807025
Disease: Intermittent episodes of respiratory insufficiency due to muscle weakness
Intermittent episodes of respiratory insufficiency due to muscle weakness 		14 0 3 0.14 0 0
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		6 0 2 0.13 0 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 0 4 0.12 0 0
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 0 3 0.12 0 0
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		16 0 3 0.12 0 0
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		7 0 2 0.12 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 8 0.12 0 0