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: C1853738
Disease: Long eyelashes
Long eyelashes 		83 17 17 8.1E-02 7 0.35
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 22 6.2E-02 6 7.9E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 49 0.16 5 0.17
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 15 21 9.1E-02 4 0.19
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 43 0.12 4 4.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 44 7.4E-02 3 3.9E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 12 4.6E-02 3 5.3E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 49 9.3E-02 3 8.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 11 3.7E-02 3 2.3E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 6 2.3E-02 2 4.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 75 7.2E-02 2 3.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 39 4.2E-02 2 1.9E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 74 3.3E-02 2 3.6E-03
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 23 17 5.4E-02 2 6.5E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 28 4.7E-02 2 2.9E-02
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		127 14 10 3.8E-02 2 9.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 93 7.9E-02 2 6.7E-03
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 42 3.1E-02 2 1.7E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 52 8.0E-02 2 1.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 90 4.8E-02 2 3.6E-03
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 9 3.8E-02 2 5.1E-02
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		16 4 6 3.9E-02 2 0.17
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 23 0.10 2 9.5E-02
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 7 15 7.0E-02 2 0.13
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 32 9.5E-02 2 7.4E-02