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: C0037769
Disease: West Syndrome
West Syndrome 		149 28 82 0.51 17 0.34
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 37 0.15 1 6.1E-03
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 23 0.15 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 21 0.14 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 21 0.14 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 7 26 0.12 6 0.15
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 9 17 0.11 3 6.7E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 14 0.11 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 12 0.10 0 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 23 15 9.9E-02 1 1.6E-02
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 11 9.8E-02 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 0 16 9.5E-02 0 0
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 43 13 9.5E-02 1 1.2E-02
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 0 13 9.3E-02 0 0
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		143 6 20 9.3E-02 1 2.3E-02
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		63 0 13 9.1E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 27 9.1E-02 1 9.1E-03
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 26 8.8E-02 1 1.5E-02
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		140 5 18 8.4E-02 1 2.3E-02
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		25 0 9 8.3E-02 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 23 8.2E-02 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 29 8.0E-02 3 4.4E-02
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 8 7.9E-02 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 26 7.8E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 18 7.8E-02 3 4.9E-02