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: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 13 0.18 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 5 10 0.15 1 0.20
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		16 0 7 0.14 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 8 0.13 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 9 0.12 0 0
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		13 0 6 0.12 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		13 0 6 0.12 0 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		15 0 6 0.12 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 6 0.12 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 6 0.12 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 6 0.12 0 0
CUI: C0231531
Disease: Muscle fibrillation
Muscle fibrillation 		8 0 5 0.11 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 0 6 0.11 0 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		8 0 5 0.11 0 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		8 0 5 0.11 0 0
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		29 0 7 0.11 0 0
CUI: C2732374
Disease: Edema of dorsum of hand
Edema of dorsum of hand 		9 0 5 0.11 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 7 0.11 0 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 6 0.10 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 7 0.10 0 0
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		12 0 5 0.10 0 0
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		12 0 5 0.10 0 0
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		23 0 6 0.10 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 6 9.8E-02 0 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		14 0 5 9.8E-02 0 0