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: C0269133
Disease: Urethrovaginal fistula
Urethrovaginal fistula 		6 0 5 0.50 0 0
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		6 0 5 0.50 0 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		7 0 5 0.45 0 0
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis 		8 0 5 0.42 0 0
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		9 0 5 0.38 0 0
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		5 0 3 0.27 0 0
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		5 0 3 0.27 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 5 0.25 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 6 0.25 0 0
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		6 0 3 0.25 0 0
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		17 0 5 0.24 0 0
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle 		14 0 4 0.21 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 0 5 0.21 0 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		20 0 5 0.21 0 0
CUI: C0685787
Disease: Cleft face
Cleft face 		23 0 5 0.19 0 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue 		24 0 5 0.18 0 0
CUI: C3808270
Disease: Acetabular spurs
Acetabular spurs 		5 0 2 0.17 0 0
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 3 0.16 0 0
CUI: C0266411
Disease: Septate vagina
Septate vagina 		6 0 2 0.15 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 5 0.15 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 5 0.13 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 4 0.12 0 0
CUI: C0014854
Disease: Esophageal diverticulum
Esophageal diverticulum 		1 0 1 0.11 0 0
CUI: C0035281
Disease: Retention cyst
Retention cyst 		1 0 1 0.11 0 0
CUI: C0340031
Disease: Mucociliary clearance defect
Mucociliary clearance defect 		1 0 1 0.11 0 0