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: C0423113
Disease: Telecanthus
Telecanthus 		134 0 21 9.9E-02 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 17 9.8E-02 1 3.8E-02
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 19 9.8E-02 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 19 9.1E-02 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 11 9.1E-02 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 23 9.0E-02 1 6.7E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 14 9.0E-02 1 4.2E-02
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 11 8.9E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 43 8.9E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 43 8.9E-02 2 4.4E-02
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		121 0 18 8.9E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 32 8.8E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 26 8.7E-02 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 25 8.6E-02 2 9.1E-02
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 13 8.6E-02 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 0 14 8.6E-02 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 20 8.6E-02 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 16 8.6E-02 0 0
CUI: C1839798
Disease: Long nose
Long nose 		29 0 10 8.5E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 38 8.4E-02 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 10 8.4E-02 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 21 8.4E-02 1 6.2E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 22 8.4E-02 1 3.7E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 19 8.3E-02 1 5.6E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 28 8.3E-02 1 3.3E-02