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: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 0 10 3.5E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 10 4.6E-03 1 1.7E-03
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 10 1.9E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 10 4.6E-03 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 9 7.4E-03 1 2.6E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 9 8.4E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 9 2.5E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 9 8.9E-04 0 0
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 9 3.8E-02 5 1.2E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 9 2.0E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 8 7.2E-03 1 2.3E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 8 1.4E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 8 3.5E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 8 4.4E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 8 1.9E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 8 2.4E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 8 8.4E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 8 1.9E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 8 1.7E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 7 1.5E-02 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 7 1.6E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 7 7.2E-03 2 3.2E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 7 9.7E-03 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 0 7 4.3E-03 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 7 1.2E-02 0 0