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: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 24 0.37 2 0.25
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 21 0.23 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 17 0.23 1 1.0E-01
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 13 0.19 0 0
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness 		16 2 8 0.17 1 0.25
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 13 0.17 0 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 10 0.17 0 0
CUI: C4021728
Disease: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 		24 0 9 0.17 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 9 0.17 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 12 0.17 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 8 21 0.16 1 1.0E-01
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 18 0.16 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 9 0.16 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 7 0.16 0 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		29 0 9 0.16 0 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 8 0.15 0 0
CUI: C4021024
Disease: Muscle fiber tubular inclusions
Muscle fiber tubular inclusions 		8 0 6 0.15 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 7 0.15 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 13 0.15 0 0
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		19 0 7 0.14 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 11 18 0.14 1 7.7E-02
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		13 0 6 0.13 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 4 9 0.13 1 0.17
CUI: C4021045
Disease: Increased jitter at single fibre EMG
Increased jitter at single fibre EMG 		5 0 5 0.13 0 0
CUI: C4022581
Disease: Favorable response of weakness to acetylcholine esterase inhibitors
Favorable response of weakness to acetylcholine esterase inhibitors 		5 0 5 0.13 0 0