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: C1837081
Disease: Tibial bowing
Tibial bowing 		25 0 16 0.34 0 0
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		9 2 8 0.21 1 7.1E-02
CUI: C1865847
Disease: Ulnar bowing
Ulnar bowing 		12 2 7 0.16 2 0.15
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		34 0 9 0.14 0 0
CUI: C0544755
Disease: Genu varum
Genu varum 		60 6 12 0.14 1 5.6E-02
CUI: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae 		5 0 5 0.13 0 0
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses 		5 0 5 0.13 0 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		14 0 6 0.13 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 3 15 0.13 1 6.7E-02
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		32 1 8 0.13 1 7.7E-02
CUI: C1838664
Disease: Enlargement of the ankles
Enlargement of the ankles 		6 0 5 0.13 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 14 0.13 1 5.6E-02
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		16 0 6 0.12 0 0
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		8 0 5 0.12 0 0
CUI: C1859399
Disease: Radial bowing
Radial bowing 		19 2 6 0.12 2 0.15
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		13 0 5 0.11 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 8 0.11 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 7 0.11 1 5.9E-02
CUI: C1838659
Disease: Deformed rib cage
Deformed rib cage 		4 0 4 0.11 0 0
CUI: C1848538
Disease: Bulging of the costochondral junction
Bulging of the costochondral junction 		4 0 4 0.11 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 7 0.10 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 5 0.10 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 9 0.10 6 0.18
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		17 0 5 1.0E-01 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 12 9.8E-02 0 0