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 52 0.30 2 8.0E-02
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 51 0.27 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 48 0.27 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 32 0.24 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 43 0.24 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 28 0.22 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 16 41 0.22 1 3.8E-02
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 28 0.21 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 28 0.21 1 5.9E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 58 0.21 3 5.9E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 53 0.20 2 8.0E-02
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 31 0.20 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 27 0.20 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 26 0.19 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 3 31 0.19 1 7.7E-02
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 29 0.19 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 26 0.18 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 4 25 0.18 1 7.1E-02
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 24 0.18 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 25 0.18 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 50 0.17 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 30 0.17 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 41 0.16 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 30 0.16 0 0
CUI: C0030552
Disease: Paresis
Paresis 		216 0 44 0.15 0 0