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: C3807697
Disease: Bilateral foot drop
Bilateral foot drop 		1 0 1 0.50 0 0
CUI: C4022659
Disease: Mitochondrial depletion
Mitochondrial depletion 		2 0 1 0.33 0 0
CUI: C0085684
Disease: Foot Drop
Foot Drop 		3 0 1 0.25 0 0
CUI: C4023067
Disease: Sternocleidomastoid amyotrophy
Sternocleidomastoid amyotrophy 		3 0 1 0.25 0 0
CUI: C4025565
Disease: Late-onset distal muscle weakness
Late-onset distal muscle weakness 		3 0 1 0.25 0 0
CUI: C0030196
Disease: Pain in limb
Pain in limb 		16 5 2 0.12 1 3.7E-03
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset 		7 0 1 0.12 0 0
CUI: C0751657
Disease: Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Autosomal Recessive 		7 0 1 0.12 0 0
CUI: C0024228
Disease: Lymphatic Diseases
Lymphatic Diseases 		8 0 1 0.11 0 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		8 0 1 0.11 0 0
CUI: C4022585
Disease: Fatigable weakness of distal limb muscles
Fatigable weakness of distal limb muscles 		8 0 1 0.11 0 0
CUI: C2732374
Disease: Edema of dorsum of hand
Edema of dorsum of hand 		9 0 1 1.0E-01 0 0
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		9 0 1 1.0E-01 0 0
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		12 0 1 7.7E-02 0 0
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		12 0 1 7.7E-02 0 0
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle 		13 0 1 7.1E-02 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 3 2 7.1E-02 1 3.7E-03
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness 		14 0 1 6.7E-02 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 1 6.7E-02 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 1 6.7E-02 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 1 6.7E-02 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 1 6.7E-02 0 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		15 0 1 6.2E-02 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 1 6.2E-02 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 1 5.9E-02 0 0