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: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 18 0.29 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 23 0.26 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 29 0.24 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 29 0.23 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 30 0.23 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 0 13 0.22 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 0 16 0.21 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 11 0.20 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 22 0.19 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 17 0.19 0 0
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 10 0.19 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 11 0.18 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 12 0.18 0 0
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		17 0 10 0.17 0 0
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 0 9 0.17 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 14 0.16 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 16 0.15 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 12 0.15 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 9 0.15 0 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 0 12 0.15 0 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		21 0 9 0.14 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 12 0.14 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		46 0 12 0.14 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 10 0.14 0 0
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		9 0 7 0.13 0 0