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: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 16 0.12 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 15 0.12 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 21 0.11 0 0
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		106 0 19 0.11 0 0
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		47 0 13 0.10 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 11 0.10 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 12 9.8E-02 0 0
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy 		21 0 10 9.7E-02 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		160 0 22 9.6E-02 0 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		37 0 11 9.3E-02 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 9 9.3E-02 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 10 9.0E-02 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 11 8.8E-02 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 15 8.8E-02 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 13 8.6E-02 0 0
CUI: C0233844
Disease: Clumsiness
Clumsiness 		48 0 11 8.5E-02 0 0
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		36 0 10 8.5E-02 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 32 8.4E-02 1 3.3E-02
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 10 8.2E-02 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 8 8.2E-02 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		28 0 9 8.1E-02 0 0
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		28 0 9 8.1E-02 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 8 8.1E-02 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 12 8.0E-02 0 0
CUI: C1866241
Disease: Broad foot
Broad foot 		30 0 9 8.0E-02 0 0