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: C0206085
Disease: Kleine-Levin Syndrome
Kleine-Levin Syndrome 		5 0 1 0.20 0 0
CUI: C4022585
Disease: Fatigable weakness of distal limb muscles
Fatigable weakness of distal limb muscles 		8 0 1 0.12 0 0
CUI: C2732374
Disease: Edema of dorsum of hand
Edema of dorsum of hand 		9 0 1 0.11 0 0
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		12 0 1 8.3E-02 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 1 7.1E-02 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 1 7.1E-02 0 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		15 0 1 6.7E-02 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 1 6.7E-02 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 1 6.2E-02 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 1 3.6E-02 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 0 1 3.3E-02 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 1 3.3E-02 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 1 2.4E-02 0 0
CUI: C0426818
Disease: Thin rib
Thin rib 		42 0 1 2.4E-02 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 1 2.4E-02 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 1 2.3E-02 0 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		47 0 1 2.1E-02 0 0
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		47 0 1 2.1E-02 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 1 2.1E-02 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 1 2.0E-02 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 1 1.8E-02 0 0
CUI: C0544755
Disease: Genu varum
Genu varum 		60 0 1 1.7E-02 0 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		60 0 1 1.7E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 1 1.6E-02 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 1 1.4E-02 0 0