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: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 208 0.38 46 0.51
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 0 62 0.19 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 115 0.16 12 5.9E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 44 0.15 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 44 0.15 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 54 0.14 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		280 67 60 0.14 1 8.7E-03
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 33 0.12 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 47 0.12 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 40 0.11 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 33 0.11 0 0
CUI: C0410158
Disease: Muscle damage
Muscle damage 		163 0 37 0.11 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 32 0.11 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		118 0 32 0.11 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 39 0.10 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 49 0.10 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 24 9.9E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 10 25 9.8E-02 1 1.7E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 33 37 9.8E-02 1 1.2E-02
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 34 9.8E-02 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 25 9.6E-02 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 28 9.5E-02 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 25 9.5E-02 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 23 9.4E-02 0 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 23 46 9.4E-02 1 1.4E-02