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: C0265301
Disease: Sclerosteosis
Sclerosteosis 		7 0 3 0.17 0 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae 		8 0 3 0.16 0 0
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		8 0 3 0.16 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 4 0.15 0 0
CUI: C0432055
Disease: Simple syndactyly of fingers - first web
Simple syndactyly of fingers - first web 		9 0 3 0.15 0 0
CUI: C0432194
Disease: Schneckenbecken dysplasia
Schneckenbecken dysplasia 		2 0 2 0.14 0 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		10 0 3 0.14 0 0
CUI: C4024188
Disease: Curved distal phalanges of the hand
Curved distal phalanges of the hand 		2 0 2 0.14 0 0
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies 		11 0 3 0.14 0 0
CUI: C1855171
Disease: Metaphyseal cupping of metacarpals
Metaphyseal cupping of metacarpals 		3 0 2 0.13 0 0
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		12 0 3 0.13 0 0
CUI: C0020496
Disease: Hyperostosis of skull
Hyperostosis of skull 		4 0 2 0.12 0 0
CUI: C0852866
Disease: Cervical cord compression
Cervical cord compression 		4 0 2 0.12 0 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		13 0 3 0.12 0 0
CUI: C1849293
Disease: Advanced tarsal ossification
Advanced tarsal ossification 		4 0 2 0.12 0 0
CUI: C2749582
Disease: Dumbbell-shaped long bone
Dumbbell-shaped long bone 		4 0 2 0.12 0 0
CUI: C4329692
Disease: Craniotubular Hyperostosis
Craniotubular Hyperostosis 		4 0 2 0.12 0 0
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		5 0 2 0.12 0 0
CUI: C1850293
Disease: Severe platyspondyly
Severe platyspondyly 		5 0 2 0.12 0 0
CUI: C4021100
Disease: Increased fibular diameter
Increased fibular diameter 		5 0 2 0.12 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 4 0.11 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 5 0.11 0 0
CUI: C0265736
Disease: Congenital anomaly of nose
Congenital anomaly of nose 		6 0 2 0.11 0 0
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		6 0 2 0.11 0 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		16 0 3 0.11 0 0