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: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 64 0.18 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 88 0.17 4 7.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 67 0.17 4 7.3E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 64 0.16 5 0.11
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 83 0.16 2 4.3E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 60 0.15 1 2.4E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 67 0.15 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 102 0.15 5 5.4E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 50 0.14 3 7.1E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 63 0.14 2 3.3E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 57 0.14 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 73 0.14 2 4.2E-02
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 14 37 0.14 1 3.0E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 44 0.14 2 4.7E-02
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 38 0.13 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 80 0.13 3 3.7E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 43 0.13 1 3.2E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 52 0.13 2 3.7E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 19 41 0.13 1 2.6E-02
CUI: C0576226
Disease: Short foot
Short foot 		116 0 33 0.12 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 74 0.12 4 4.7E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 36 0.12 2 6.9E-02
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 12 28 0.12 1 3.2E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 83 0.12 3 4.3E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 62 0.12 2 3.0E-02