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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 33 6.1E-02 1 1.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 88 4.7E-02 2 3.6E-03
CUI: C0013595
Disease: Eczema
Eczema 		863 368 17 1.7E-02 1 2.7E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 26 7.1E-02 1 2.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 50 6.0E-02 1 2.9E-03
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 297 32 1.8E-02 1 3.3E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 85 7.2E-02 4 1.4E-02
CUI: C0003467
Disease: Anxiety
Anxiety 		1048 287 28 2.4E-02 1 3.4E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 22 3.0E-02 1 3.5E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 17 6.0E-02 3 1.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 57 8.9E-02 2 1.0E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 6 2.8E-02 1 5.3E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 8 2.7E-02 2 1.6E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 5 2.7E-02 1 8.0E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 11 1.9E-02 2 2.0E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 38 4.1E-02 1 1.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 59 7.4E-02 1 1.1E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 1 6.2E-03 1 1.2E-02
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		1143 75 18 1.4E-02 1 1.3E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 18 4.2E-02 1 1.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 14 3.9E-02 2 2.7E-02
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		179 70 7 2.3E-02 1 1.4E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 14 2.4E-02 1 1.5E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 10 5.6E-02 2 3.3E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 13 4.4E-02 1 1.8E-02