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: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		16 0 16 0.40 0 0
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		20 0 16 0.36 0 0
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 18 0.35 0 0
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		23 0 16 0.34 0 0
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		24 0 16 0.33 0 0
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		24 0 16 0.33 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 20 0.22 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 11 0.20 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 9 0.20 0 0
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		15 0 9 0.20 0 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		15 0 8 0.17 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 2 11 0.17 1 0.12
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		77 0 16 0.16 0 0
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		19 0 8 0.16 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 17 0.16 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 17 0.15 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 8 0.14 0 0
CUI: C1857527
Disease: Flattened epiphysis
Flattened epiphysis 		11 0 6 0.13 0 0
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		56 63 11 0.13 2 2.9E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 15 0.12 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 6 0.12 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 13 0.12 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 7 0.11 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 16 0.11 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 6 0.11 0 0