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: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 6 0.25 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 7 0.25 0 0
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		6 0 4 0.25 0 0
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		6 0 4 0.25 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 0 6 0.21 0 0
CUI: C0266393
Disease: Congenital duplication of uterus
Congenital duplication of uterus 		9 0 4 0.21 0 0
CUI: C0269133
Disease: Urethrovaginal fistula
Urethrovaginal fistula 		6 0 3 0.18 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 11 0.17 0 0
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 4 0.17 0 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		7 0 3 0.17 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 6 0.16 0 0
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis 		8 0 3 0.16 0 0
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		9 0 3 0.15 0 0
CUI: C0432194
Disease: Schneckenbecken dysplasia
Schneckenbecken dysplasia 		2 0 2 0.14 0 0
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1 		11 0 3 0.14 0 0
CUI: C1849293
Disease: Advanced tarsal ossification
Advanced tarsal ossification 		4 0 2 0.12 0 0
CUI: C2749582
Disease: Dumbbell-shaped long bone
Dumbbell-shaped long bone 		4 0 2 0.12 0 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue 		24 0 4 0.12 0 0
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		5 0 2 0.12 0 0
CUI: C3808270
Disease: Acetabular spurs
Acetabular spurs 		5 0 2 0.12 0 0
CUI: C4021100
Disease: Increased fibular diameter
Increased fibular diameter 		5 0 2 0.12 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 5 0.11 0 0
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome 		6 0 2 0.11 0 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		16 0 3 0.11 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 3 0.11 0 0