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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 69 3.8E-02 4 7.2E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 64 2.9E-02 0 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 0 57 4.4E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 55 5.1E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 55 0.14 1 1.8E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 7 54 0.31 1 6.7E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 54 5.5E-02 1 5.8E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 53 8.8E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 53 5.2E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 53 9.1E-02 1 5.0E-03
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 0 52 3.0E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 52 0.12 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 52 0.22 0 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 0 51 0.13 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 50 0.15 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 50 0.10 1 9.5E-03
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 50 0.15 1 1.2E-02
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 50 0.21 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 49 0.18 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 49 0.10 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 49 0.16 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 48 9.5E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 47 2.2E-02 5 9.0E-03
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 47 0.16 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 46 0.12 0 0