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: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		13 0 10 0.29 0 0
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		61 24 18 0.24 2 5.0E-02
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 14 0.21 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 2 10 0.20 1 5.3E-02
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 13 0.19 1 4.2E-02
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 4 16 0.19 1 4.8E-02
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		8 0 6 0.18 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 10 0.17 0 0
CUI: C1864716
Disease: Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy 		11 0 6 0.17 0 0
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		13 0 6 0.16 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 15 10 0.15 1 3.1E-02
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness 		14 4 6 0.15 1 4.8E-02
CUI: C1837323
Disease: Decreased Achilles reflex
Decreased Achilles reflex 		7 0 5 0.15 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 12 0.15 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 6 0.15 0 0
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy 		16 1 6 0.15 1 5.6E-02
CUI: C0264789
Disease: Familial cardiomyopathy
Familial cardiomyopathy 		10 0 5 0.14 0 0
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		19 0 6 0.14 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 3 7 0.13 1 5.0E-02
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 7 0.13 0 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		37 0 8 0.13 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 17 0.13 1 3.0E-02
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		12 1 5 0.13 1 5.6E-02
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 7 0.13 0 0
CUI: C1839615
Disease: X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy 		14 9 5 0.12 1 3.8E-02