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: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 40 0.32 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 39 0.30 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 11 52 0.30 2 8.0E-02
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 3 43 0.27 1 5.6E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 8 48 0.27 1 4.3E-02
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 4 32 0.26 4 0.25
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 29 0.25 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 31 0.24 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 36 0.24 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 44 0.23 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 31 0.23 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 45 0.23 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 5 30 0.23 2 0.11
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 35 0.23 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 3 28 0.22 1 5.6E-02
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 25 0.21 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 28 0.20 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 58 0.20 3 5.4E-02
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 27 0.19 1 4.3E-02
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 25 0.19 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		118 0 37 0.19 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 27 0.19 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 45 0.18 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 25 0.18 1 4.5E-02
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 35 0.17 0 0