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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 43 9.4E-02 3 4.3E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 0 34 9.3E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 32 9.3E-02 2 4.5E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 22 9.3E-02 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 21 9.2E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 56 9.1E-02 3 1.4E-02
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 12 9.1E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 43 9.1E-02 4 7.4E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 58 9.0E-02 3 3.1E-02
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 14 8.9E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 49 8.9E-02 2 2.4E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 23 8.9E-02 3 4.1E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 32 8.8E-02 1 1.6E-02
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 18 8.7E-02 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		77 0 15 8.7E-02 0 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		41 0 12 8.6E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 24 8.5E-02 4 7.7E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 0 16 8.4E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 42 8.3E-02 1 1.6E-03
CUI: C0426870
Disease: Large hand
Large hand 		35 7 11 8.1E-02 1 3.4E-02
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 3 11 8.1E-02 1 4.0E-02
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 18 8.1E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 12 8.1E-02 3 3.8E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 40 8.0E-02 3 5.1E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 15 8.0E-02 1 2.4E-02