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: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		5 1 1 0.12 1 1.00
CUI: C4020908
Disease: Hypointensity of cerebral white matter on MRI
Hypointensity of cerebral white matter on MRI 		6 1 1 0.11 1 1.00
CUI: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly 		1 1 1 0.25 1 1.00
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone 		1 1 1 0.25 1 1.00
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		14 2 1 5.9E-02 1 0.50
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		9 2 1 8.3E-02 1 0.50
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		23 3 1 3.8E-02 1 0.33
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		10 3 1 7.7E-02 1 0.33
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		20 4 1 4.3E-02 1 0.25
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 1 1.4E-02 1 0.20
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 6 1 2.1E-02 1 0.17
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 9 1 1.1E-02 1 0.11
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 1 8.9E-03 1 7.7E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 1 4.7E-03 1 5.9E-02
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 20 1 0.17 1 5.0E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 2 1.9E-02 1 5.0E-02
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 1 4.3E-02 1 4.2E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 3 1.0E-02 1 3.4E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 2 4.2E-03 1 2.7E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 1 2.5E-03 1 2.0E-02
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		15 52 1 5.6E-02 1 1.9E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 3 6.1E-03 1 1.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 2 4.0E-03 1 1.4E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 3 5.1E-03 1 1.3E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 2 1.8E-03 0 0