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
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: 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: C1854114
Disease: Short nose
Short nose
265 23 128 0.23 5 8.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 185 0.22 2 2.2E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
321 22 135 0.22 5 8.9E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
367 0 143 0.22 0 0
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
716 89 188 0.20 6 4.9E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
325 43 118 0.19 2 2.5E-02
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
497 70 143 0.18 4 3.8E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 80 176 0.18 1 8.5E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 219 0.18 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 211 0.18 7 1.1E-02
CUI: C0349588
Disease: Short stature
Short stature
1127 292 232 0.18 10 3.1E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
611 0 150 0.17 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1261 0 243 0.17 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
186 20 88 0.17 4 7.3E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
211 25 91 0.17 2 3.2E-02