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: C1850196
Disease: Posterior scalloping of vertebral bodies
Posterior scalloping of vertebral bodies 		3 0 2 0.12 0 0
CUI: C1866675
Disease: Biconvex vertebral bodies
Biconvex vertebral bodies 		3 0 2 0.12 0 0
CUI: C3697376
Disease: Oculoskeletal dysplasia
Oculoskeletal dysplasia 		3 0 2 0.12 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 5 0.12 0 0
CUI: C0001079
Disease: Achondrogenesis
Achondrogenesis 		4 0 2 0.12 0 0
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses 		4 0 2 0.12 0 0
CUI: C3553368
Disease: Limited hip extension
Limited hip extension 		4 0 2 0.12 0 0
CUI: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis 		4 0 2 0.12 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		4 0 2 0.12 0 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 5 0.11 0 0
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		16 0 3 0.11 0 0
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		17 0 3 0.10 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 4 0.10 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 11 0.10 0 0
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck 		7 0 2 1.0E-01 0 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		7 0 2 1.0E-01 0 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening 		7 0 2 1.0E-01 0 0
CUI: C2931073
Disease: Collagenopathy, type 2 alpha 1
Collagenopathy, type 2 alpha 1 		7 0 2 1.0E-01 0 0
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		29 0 4 1.0E-01 0 0
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		8 0 2 9.5E-02 0 0
CUI: C1836688
Disease: Narrow iliac wings
Narrow iliac wings 		8 0 2 9.5E-02 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 7 9.5E-02 0 0
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		20 0 3 9.4E-02 0 0
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		20 0 3 9.4E-02 0 0
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		56 0 6 9.2E-02 0 0