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 16 0.80 0 0
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		23 0 16 0.70 0 0
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		24 0 16 0.67 0 0
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		24 0 16 0.67 0 0
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 16 0.55 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 16 0.40 0 0
CUI: C1857101
Disease: Anisospondyly
Anisospondyly 		4 0 4 0.25 0 0
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		15 0 6 0.24 0 0
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		77 12 16 0.21 1 6.7E-02
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 6 0.21 0 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		11 0 4 0.17 0 0
CUI: C0010673
Disease: Endometrial cystic hyperplasia
Endometrial cystic hyperplasia 		5 0 3 0.17 0 0
CUI: C0034215
Disease: Pyometra
Pyometra 		6 0 3 0.16 0 0
CUI: C1336257
Disease: Stage 3 Neuroblastoma
Stage 3 Neuroblastoma 		6 0 3 0.16 0 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		7 0 3 0.15 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 4 0.13 0 0
CUI: C0265235
Disease: Marshall syndrome
Marshall syndrome 		2 0 2 0.12 0 0
CUI: C0877550
Disease: Carcinomatous ascites
Carcinomatous ascites 		2 0 2 0.12 0 0
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae 		11 0 3 0.12 0 0
CUI: C4025050
Disease: Irregular distal femoral epiphysis
Irregular distal femoral epiphysis 		2 0 2 0.12 0 0
CUI: C4025356
Disease: Abnormal vitreous humor morphology
Abnormal vitreous humor morphology 		2 0 2 0.12 0 0
CUI: C4479260
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 		2 0 2 0.12 0 0
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		2 0 2 0.12 0 0
CUI: C4688354
Disease: Recurrent Craniopharyngioma
Recurrent Craniopharyngioma 		2 0 2 0.12 0 0
CUI: C1865847
Disease: Ulnar bowing
Ulnar bowing 		12 0 3 0.12 0 0