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: C0036572
Disease: Seizures
Seizures 		2152 553 94 4.3E-02 1 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 93 5.1E-02 1 1.8E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 17 5.6E-02 2 4.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 56 4.7E-02 2 6.7E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 17 6.8E-02 2 7.9E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 24 3.7E-02 1 5.0E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 62 6.2E-02 1 5.8E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 11 5.5E-02 1 7.2E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 10 3.8E-02 3 2.4E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 15 1.5E-02 1 7.8E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 9 1.7E-02 1 7.9E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 9 1.6E-02 2 1.9E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 27 5.8E-02 1 9.7E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 59 6.7E-02 1 9.8E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 18 5.3E-02 1 9.9E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 62 8.1E-02 1 1.0E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 26 5.1E-02 1 1.1E-02
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		46 81 1 6.5E-03 1 1.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 36 7.2E-02 2 2.5E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 14 3.5E-02 1 1.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 17 5.3E-02 1 1.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 4 2.6E-02 1 1.5E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 4 2.8E-02 1 1.6E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 13 2.2E-02 1 1.6E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 16 6.1E-02 1 1.6E-02