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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 64 0.15 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 96 0.14 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 45 0.14 0 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 16 54 0.14 1 1.8E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 105 0.14 4 1.7E-02
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 52 0.14 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 46 0.13 0 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 94 0.13 3 1.9E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 70 0.13 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 51 0.13 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 71 0.13 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 78 0.13 2 2.2E-02
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 39 0.12 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 125 0.12 8 1.8E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 80 0.12 1 8.7E-03
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 39 0.12 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 38 0.12 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 41 0.12 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 60 0.12 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 48 0.12 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 42 0.11 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 45 0.11 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 46 0.11 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 85 0.11 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 40 0.11 0 0