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: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 39 7.2E-02 1 1.8E-02
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 21 7.2E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 15 7.1E-02 2 6.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 131 7.1E-02 12 2.1E-02
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 2 13 7.1E-02 1 3.8E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 61 7.0E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 61 7.0E-02 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 17 7.0E-02 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 44 6.9E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 30 6.9E-02 5 5.3E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 36 6.8E-02 1 1.7E-02
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 22 6.8E-02 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 34 6.6E-02 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 20 20 6.6E-02 1 2.3E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 17 6.5E-02 4 6.7E-02
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		59 14 13 6.4E-02 1 2.6E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 31 6.4E-02 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 17 6.3E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 66 6.3E-02 3 1.6E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 0 25 6.3E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 51 6.2E-02 7 6.5E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 43 6.2E-02 1 1.1E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 21 6.1E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 22 6.1E-02 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 21 6.1E-02 1 1.8E-02