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: C1854912
Disease: Short long bone
Short long bone 		42 19 25 0.32 15 0.48
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 18 38 0.28 3 7.1E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 34 0.26 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 23 0.26 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 17 0.24 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 31 15 0.23 2 3.6E-02
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 116 16 0.22 13 1.0E-01
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		32 16 16 0.21 14 0.48
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 14 0.21 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 25 0.21 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 108 13 0.21 3 2.3E-02
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 21 0.19 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 15 0.19 1 3.2E-02
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 24 0.18 0 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		32 0 14 0.18 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		26 7 13 0.18 3 9.7E-02
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 11 0.18 0 0
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle 		14 0 11 0.17 0 0
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		17 0 11 0.17 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 15 0.16 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 0 16 0.16 0 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		21 0 11 0.16 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 14 0.15 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 20 0.15 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 10 0.15 0 0