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: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 48 0.27 1 4.3E-02
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 38 0.26 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 32 0.24 1 6.7E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 43 0.24 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 31 0.23 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 28 0.22 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 28 0.21 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 28 0.21 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 26 0.20 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		160 15 45 0.20 1 4.5E-02
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 27 0.20 1 7.1E-02
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 3 31 0.19 1 1.0E-01
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 24 0.18 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 23 0.17 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 34 0.17 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 24 0.17 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 35 0.17 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 49 0.17 1 2.7E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 48 0.16 1 2.0E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 44 0.16 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 3 21 0.16 1 1.0E-01
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 26 0.16 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		118 37 32 0.16 2 4.7E-02
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 19 0.16 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 19 0.15 0 0