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: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 116 0.65 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 9 42 0.29 2 5.9E-02
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 39 0.28 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 9 46 0.28 4 0.12
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 7 60 0.26 1 3.0E-02
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 40 0.23 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 41 0.23 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 46 0.22 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 20 53 0.21 2 4.4E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 46 0.20 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 77 0.17 8 0.12
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 48 0.17 1 1.8E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 64 0.16 3 4.5E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 56 0.16 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 46 0.16 1 1.9E-02
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 15 47 0.16 3 7.7E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 45 0.15 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 13 45 0.15 1 2.6E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 49 0.14 1 8.3E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 74 0.14 6 5.1E-02
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 46 0.14 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 74 0.14 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 70 0.13 3 4.4E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 0 48 0.13 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 51 0.13 5 5.2E-02