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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 210 0.27 20 0.19
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 133 0.25 1 1.6E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 118 0.24 8 0.14
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 169 0.24 11 0.11
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 185 0.23 6 6.2E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 113 0.22 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 143 0.22 3 3.9E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 120 0.21 2 2.6E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 246 0.21 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 106 0.21 8 0.13
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 138 0.20 7 8.6E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 254 0.20 11 3.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 157 0.20 8 3.4E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 134 0.20 2 2.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 145 0.20 8 7.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 160 0.19 9 9.3E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 176 0.19 5 3.8E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 262 0.19 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 158 0.19 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 104 0.18 5 6.0E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 116 0.18 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 108 0.18 5 7.6E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 99 0.18 6 9.1E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 167 0.18 1 7.8E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 88 0.17 3 4.2E-02