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: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 31 15 0.44 2 1.4E-02
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 108 13 0.41 18 8.7E-02
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 13 14 0.39 2 1.6E-02
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 11 0.23 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 16 0.22 13 1.0E-01
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 13 0.21 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 19 12 0.20 12 9.8E-02
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 13 0.20 0 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		7 0 6 0.20 0 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		32 16 10 0.20 11 9.1E-02
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		9 0 6 0.19 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 12 0.18 0 0
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1 		11 0 6 0.18 0 0
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		5 0 5 0.17 0 0
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		5 20 5 0.17 3 2.3E-02
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		5 0 5 0.17 0 0
CUI: C0269133
Disease: Urethrovaginal fistula
Urethrovaginal fistula 		6 0 5 0.17 0 0
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		6 0 5 0.17 0 0
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		6 0 5 0.17 0 0
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 6 0.17 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 10 0.16 0 0
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle 		14 0 6 0.16 0 0
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis 		8 0 5 0.16 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		46 0 10 0.15 0 0
CUI: C0266393
Disease: Congenital duplication of uterus
Congenital duplication of uterus 		9 0 5 0.15 0 0