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 0.67 0 0
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		20 0 16 0.57 0 0
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		23 0 16 0.52 0 0
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		24 0 16 0.50 0 0
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 16 0.43 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 16 0.33 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 0.18 0 0
CUI: C1857101
Disease: Anisospondyly
Anisospondyly 		4 0 4 0.17 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 6 0.16 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 5 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: C0010673
Disease: Endometrial cystic hyperplasia
Endometrial cystic hyperplasia 		5 0 3 0.12 0 0
CUI: C0034215
Disease: Pyometra
Pyometra 		6 0 3 0.11 0 0
CUI: C1336257
Disease: Stage 3 Neuroblastoma
Stage 3 Neuroblastoma 		6 0 3 0.11 0 0
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		7 0 3 0.11 0 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		7 0 3 0.11 0 0
CUI: C0015814
Disease: Femur Head Necrosis
Femur Head Necrosis 		8 0 3 0.10 0 0
CUI: C0239783
Disease: Inguinal pain
Inguinal pain 		8 0 3 0.10 0 0
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		20 0 4 1.0E-01 0 0
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae 		11 0 3 9.4E-02 0 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		23 0 4 9.3E-02 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 4 9.1E-02 0 0
CUI: C1865847
Disease: Ulnar bowing
Ulnar bowing 		12 0 3 9.1E-02 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 4 8.5E-02 0 0