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: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		17 0 10 0.24 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 9 0.22 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 19 0.22 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 8 0.20 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 8 0.19 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 10 0.18 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 9 0.17 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 11 0.16 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 8 0.16 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 14 0.15 0 0
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		13 0 6 0.15 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		13 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 5 0.14 0 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		40 0 9 0.14 0 0
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		16 0 6 0.14 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 9 0.13 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 0 6 0.13 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 9 0.13 0 0
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		10 0 5 0.13 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 7 0.13 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 5 0.12 0 0
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		5 0 4 0.11 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 9 0.11 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 15 0.11 0 0
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		15 0 5 0.11 0 0