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: C0560346
Disease: Difficulty running
Difficulty running 		38 3 24 0.37 2 0.25
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 27 0.35 3 0.25
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 4 30 0.26 1 1.0E-01
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 20 0.26 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 3 24 0.24 1 0.11
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 17 0.22 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 4 18 0.22 1 1.0E-01
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 11 28 0.21 1 5.9E-02
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 16 0.20 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 15 0.20 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 8 27 0.20 1 7.1E-02
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 15 0.19 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 11 0.19 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 18 13 0.19 1 4.2E-02
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		15 1 10 0.18 1 0.14
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 25 0.18 1 4.5E-02
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 15 0.17 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		118 37 24 0.17 1 2.3E-02
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		20 0 10 0.16 0 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		92 0 20 0.16 0 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		42 0 13 0.16 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 12 0.16 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 11 0.16 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 15 13 0.16 3 0.16
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 34 0.16 1 4.5E-02