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: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 13 0.42 0 0
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		16 0 6 0.24 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 6 0.21 0 0
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		20 3 6 0.21 1 3.1E-02
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 9 0.20 0 0
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		23 0 6 0.19 0 0
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		4 6 3 0.19 3 9.1E-02
CUI: C1857101
Disease: Anisospondyly
Anisospondyly 		4 0 3 0.19 0 0
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		24 0 6 0.18 0 0
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		24 0 6 0.18 0 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		11 0 4 0.18 0 0
CUI: C1857527
Disease: Flattened epiphysis
Flattened epiphysis 		11 3 4 0.18 1 3.1E-02
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 0 5 0.18 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 6 0.16 0 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		7 0 3 0.16 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 4 0.15 0 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		23 0 5 0.15 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 6 0.15 0 0
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		10 0 3 0.14 0 0
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		19 0 4 0.13 0 0
CUI: C4479260
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 		2 0 2 0.13 0 0
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		2 6 2 0.13 3 9.1E-02
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae 		11 0 3 0.13 0 0
CUI: C0264700
Disease: Acute Inferior Myocardial Infarction
Acute Inferior Myocardial Infarction 		3 0 2 0.12 0 0
CUI: C0524595
Disease: Aseptic Necrosis of Femur Head
Aseptic Necrosis of Femur Head 		3 0 2 0.12 0 0