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: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		20 0 18 0.58 0 0
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		16 0 16 0.55 0 0
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		23 0 16 0.44 0 0
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		24 0 16 0.43 0 0
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		24 0 16 0.43 0 0
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		15 0 13 0.42 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 18 0.35 0 0
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		77 0 16 0.18 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 7 0.17 0 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		11 0 5 0.14 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 7 0.14 0 0
CUI: C1857101
Disease: Anisospondyly
Anisospondyly 		4 0 4 0.14 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 5 0.13 0 0
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		17 0 5 0.12 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 6 0.12 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 13 0.12 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 5 0.12 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 12 0.12 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 10 0.11 0 0
CUI: C1857527
Disease: Flattened epiphysis
Flattened epiphysis 		11 0 4 0.11 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 5 0.10 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 22 0.10 0 0
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		4 0 3 1.0E-01 0 0
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses 		4 0 3 1.0E-01 0 0
CUI: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis 		4 0 3 1.0E-01 0 0