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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 9 9.3E-03 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 9 4.2E-03 1 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 10 5.5E-03 1 1.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 4 3.5E-03 1 3.4E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 3 5.3E-03 1 5.2E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 1 5.7E-03 1 8.2E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 2 2.4E-03 1 1.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 8 1.1E-02 1 1.1E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 2 7.4E-03 1 1.3E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 2 4.0E-03 1 1.4E-02
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		6 61 1 6.2E-02 1 1.6E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 7 1.8E-02 1 2.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 4 1.0E-02 1 2.0E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 1 7.6E-03 1 2.6E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 1 8.8E-03 1 3.2E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 3 7.1E-03 1 3.3E-02
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 6 5.7E-02 1 3.8E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 1 4.5E-03 1 4.0E-02
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 23 2 1.0E-02 1 4.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 5 1.6E-02 1 4.5E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 3 1.3E-02 1 5.3E-02
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 18 2 2.6E-02 1 5.6E-02
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 17 1 1.1E-02 1 5.9E-02
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 13 1 3.4E-02 1 7.7E-02
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 10 1 6.5E-03 1 1.0E-01