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: C0231712
Disease: Waddling gait
Waddling gait 		113 0 38 0.26 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 24 0.25 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 24 0.24 1 0.11
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 0 21 0.23 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 35 0.23 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 22 0.22 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 22 0.21 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 15 0.20 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 26 0.20 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		160 0 38 0.19 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 19 0.19 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 16 0.19 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 16 0.19 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 29 0.19 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 20 0.19 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 13 0.18 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 17 0.18 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 43 0.17 1 2.2E-02
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 17 0.16 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 16 0.16 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 23 0.16 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 20 0.16 0 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 13 0.16 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		118 37 26 0.16 1 2.6E-02
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 14 0.16 0 0