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: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		14 5 1 7.1E-02 4 0.40
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 1 2.4E-02 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 1 1.9E-02 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		58 0 1 1.7E-02 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 1 1.3E-02 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 1 1.3E-02 0 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		80 0 1 1.3E-02 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.2E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 1 1.1E-02 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 1 8.5E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 7.4E-03 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 1 7.4E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 6.6E-03 0 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 1 6.3E-03 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 20 1 6.0E-03 4 0.16
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 5.3E-03 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 0 1 5.2E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 5.0E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 4.8E-03 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 1 4.8E-03 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 1 4.8E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 1 4.2E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 4.0E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 3.8E-03 0 0