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: C1843367
Disease: Poor school performance
Poor school performance 		211 411 62 0.20 63 0.11
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 43 0.12 21 7.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 45 0.12 25 7.6E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 34 0.12 31 9.2E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 60 0.11 15 4.9E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 61 0.11 12 1.4E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 20 0.11 15 5.2E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 34 0.10 5 1.9E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 64 9.8E-02 23 5.5E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 13 24 9.3E-02 4 1.6E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 55 9.3E-02 13 4.4E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 29 9.1E-02 9 3.5E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 53 9.1E-02 24 8.5E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 30 8.7E-02 4 1.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 27 97 8.6E-02 2 7.4E-03
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 27 8.6E-02 12 4.6E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 43 8.6E-02 15 5.4E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 35 8.5E-02 6 2.2E-02
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 17 8.5E-02 9 3.5E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 18 8.5E-02 8 3.1E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 32 8.4E-02 7 2.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 68 8.4E-02 20 6.3E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 23 8.3E-02 6 2.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 57 8.3E-02 17 6.0E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 22 8.2E-02 13 4.6E-02