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 0.70 0 0
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		20 0 16 0.59 0 0
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		24 0 16 0.52 0 0
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		24 0 16 0.52 0 0
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 16 0.44 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 16 0.34 0 0
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		77 0 16 0.19 0 0
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		15 0 6 0.19 0 0
CUI: C1857101
Disease: Anisospondyly
Anisospondyly 		4 0 4 0.17 0 0
CUI: C0750992
Disease: Catatonia, Malignant
Catatonia, Malignant 		5 0 4 0.17 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 6 0.17 0 0
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		9 0 4 0.14 0 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		11 0 4 0.13 0 0
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		13 0 4 0.12 0 0
CUI: C0010673
Disease: Endometrial cystic hyperplasia
Endometrial cystic hyperplasia 		5 0 3 0.12 0 0
CUI: C1263988
Disease: Hemolytic disorder
Hemolytic disorder 		15 0 4 0.12 0 0
CUI: C0034215
Disease: Pyometra
Pyometra 		6 0 3 0.12 0 0
CUI: C1336257
Disease: Stage 3 Neuroblastoma
Stage 3 Neuroblastoma 		6 0 3 0.12 0 0
CUI: C0234935
Disease: Acute urticaria
Acute urticaria 		17 0 4 0.11 0 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		7 0 3 0.11 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 4 0.11 0 0
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		10 0 3 1.0E-01 0 0
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae 		11 0 3 9.7E-02 0 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		23 0 4 9.5E-02 0 0
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		82 0 9 9.4E-02 0 0