Source: INFERRED ×
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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 181 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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 179 0.27 10 0.16
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 143 0.25 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 184 0.25 10 0.11
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 130 0.25 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		304 0 136 0.23 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 128 0.23 5 8.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 184 0.23 2 2.2E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		320 22 135 0.22 5 8.9E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 175 0.21 1 1.2E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 146 0.21 3 4.6E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 138 0.20 7 8.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 186 0.20 6 5.1E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 141 0.19 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		297 39 115 0.19 2 2.6E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 0 233 0.19 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 112 0.19 5 7.9E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 101 0.18 4 7.4E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 143 0.18 4 4.0E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 219 0.18 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 210 0.18 7 1.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 286 0.18 13 2.4E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 232 0.18 10 3.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 177 0.17 3 1.9E-02