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 35 134 0.25 8 0.16
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 103 0.23 1 2.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 128 0.23 5 8.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 140 0.20 1 1.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 138 0.19 8 8.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 120 0.19 6 7.4E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 108 0.19 6 0.13
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 77 0.19 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 99 0.18 6 9.1E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 80 0.17 1 2.0E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 79 0.17 2 3.3E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 63 0.16 1 2.9E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 96 0.16 2 4.0E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 81 0.16 2 4.7E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 65 0.15 1 2.4E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 60 0.15 1 2.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 128 0.15 2 1.8E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 166 0.15 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 58 0.15 1 2.1E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 69 0.15 1 1.7E-02
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 44 0.15 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 112 0.15 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 97 0.15 3 3.3E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 52 0.15 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 173 0.14 3 9.6E-03