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: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 6 0.38 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 6 0.38 0 0
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset 		7 0 4 0.36 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 6 0.35 0 0
CUI: C2732374
Disease: Edema of dorsum of hand
Edema of dorsum of hand 		9 0 4 0.31 0 0
CUI: C0231666
Disease: Wrist-Drop
Wrist-Drop 		2 0 2 0.25 0 0
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		12 0 4 0.25 0 0
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		12 0 4 0.25 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 4 0.22 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 4 0.22 0 0
CUI: C4025565
Disease: Late-onset distal muscle weakness
Late-onset distal muscle weakness 		3 0 2 0.22 0 0
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		9 0 3 0.21 0 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		15 0 4 0.21 0 0
CUI: C0270969
Disease: Zebra body myopathy
Zebra body myopathy 		4 0 2 0.20 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 6 0.20 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 4 0.20 0 0
CUI: C1868623
Disease: Handgrip myotonia
Handgrip myotonia 		4 0 2 0.20 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 6 0.19 0 0
CUI: C0544966
Disease: Autophagic vaculoes (finding)
Autophagic vaculoes (finding) 		6 0 2 0.17 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 7 0.17 0 0
CUI: C4025571
Disease: Type 1 fibers relatively smaller than type 2 fibers
Type 1 fibers relatively smaller than type 2 fibers 		6 0 2 0.17 0 0
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		21 0 4 0.16 0 0
CUI: C0751657
Disease: Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Autosomal Recessive 		7 0 2 0.15 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 0 5 0.15 0 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		8 0 2 0.14 0 0