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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 179 0.27 10 0.16
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 23 4.1E-02 9 0.11
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 184 0.25 10 0.11
CUI: C2673410
Disease: Small midface
Small midface 		23 24 16 3.7E-02 6 0.11
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 40 8.1E-02 7 9.7E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 183 0.28 6 9.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 219 0.27 10 9.4E-02
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 8 22 4.7E-02 4 9.3E-02
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 9 33 6.9E-02 4 9.1E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 135 0.22 5 8.9E-02
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 10 3 6.8E-03 4 8.9E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 128 0.23 5 8.8E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 138 0.20 7 8.6E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 55 9.8E-02 7 8.5E-02
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		12 13 5 1.2E-02 4 8.3E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 112 0.19 5 7.9E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 17 36 6.4E-02 4 7.7E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 22 4.3E-02 5 7.7E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 28 5.7E-02 4 7.4E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 101 0.18 4 7.4E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		64 34 15 3.2E-02 5 7.4E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 31 5.5E-02 11 7.3E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 88 0.17 4 7.3E-02
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 6 31 6.9E-02 3 7.1E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 12 2.7E-02 5 7.0E-02