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: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 76 0.19 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 81 0.16 4 6.7E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 49 0.14 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 81 0.14 7 8.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 90 0.14 3 3.0E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 35 0.13 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 62 0.13 3 4.2E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 59 0.13 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 47 0.12 3 6.7E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 64 0.12 4 8.0E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 39 0.12 3 6.4E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 36 0.12 1 2.4E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 59 0.11 3 5.8E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 39 0.11 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 34 0.11 1 2.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 64 0.11 2 2.2E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 33 0.11 2 5.7E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 58 0.11 2 3.1E-03
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 32 0.11 2 2.6E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 72 0.11 2 2.6E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 37 0.11 2 5.3E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 37 0.11 2 5.7E-02
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 14 28 0.11 1 2.6E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 33 0.10 1 2.8E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 28 0.10 0 0