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: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 10 0.31 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 8 0.19 0 0
CUI: C1863749
Disease: Carpal bone hypoplasia
Carpal bone hypoplasia 		10 0 5 0.18 0 0
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae 		4 0 4 0.17 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 6 0.17 0 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		25 0 7 0.17 0 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		19 0 6 0.17 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 7 0.16 0 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		13 0 5 0.16 0 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		21 0 6 0.16 0 0
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		15 0 5 0.15 0 0
CUI: C1846433
Disease: Prominent sternum
Prominent sternum 		8 0 4 0.15 0 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		10 1 4 0.14 1 1.00
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 14 0.14 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 7 0.13 0 0
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		20 0 5 0.13 0 0
CUI: C1860601
Disease: Flattened femoral head
Flattened femoral head 		3 0 3 0.13 0 0
CUI: C4025401
Disease: Irregular carpal bones
Irregular carpal bones 		3 0 3 0.13 0 0
CUI: C0149645
Disease: Cervical myelopathy
Cervical myelopathy 		12 0 4 0.13 0 0
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		4 0 3 0.12 0 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		41 0 7 0.12 0 0
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		14 0 4 0.12 0 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 0 7 0.12 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 6 0.12 0 0
CUI: C1855185
Disease: Broad phalanx
Broad phalanx 		6 0 3 0.12 0 0