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 99 0.31 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 57 0.19 1 5.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 111 0.17 3 4.8E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 82 0.16 6 0.11
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 110 0.16 2 2.3E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 67 0.16 1 2.5E-02
CUI: C1853241
Disease: Flat face
Flat face 		83 0 38 0.16 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 63 0.16 1 2.9E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 70 0.16 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 84 0.16 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 91 0.15 3 4.1E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 39 0.15 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 49 0.15 2 5.7E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 36 0.15 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 48 0.15 1 4.3E-02
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 38 0.14 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 51 0.14 1 3.1E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 58 0.14 2 7.7E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 57 0.14 2 4.1E-02
CUI: C1843108
Disease: Short palm
Short palm 		110 0 36 0.14 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 35 0.14 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 73 0.13 3 7.9E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 71 0.13 2 5.0E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 48 0.13 1 4.3E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 37 0.13 1 4.2E-02