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: C0426817
Disease: Short ribs
Short ribs 		60 27 38 0.28 3 7.1E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 42 0.24 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 40 0.24 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 30 0.23 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 19 25 0.19 1 2.8E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 31 0.19 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 24 0.17 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 25 0.16 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 0 23 0.16 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 19 0.16 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 17 0.15 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 26 39 0.14 1 2.3E-02
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 0 16 0.14 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 35 0.13 1 1.2E-02
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 3 24 0.13 1 5.0E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 51 0.13 2 3.4E-02
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 17 0.13 2 9.5E-02
CUI: C0576226
Disease: Short foot
Short foot 		116 0 26 0.13 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 26 0.13 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 116 16 0.13 1 7.5E-03
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 27 0.13 2 5.4E-02
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 22 0.13 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 44 0.12 2 4.4E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 35 0.12 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 108 14 0.12 1 8.0E-03