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: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 70 0.26 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 87 0.24 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 28 58 0.21 4 2.7E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 88 0.20 2 9.8E-03
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 56 0.19 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 100 0.18 2 1.1E-02
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 36 0.18 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 63 0.18 2 1.0E-02
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 34 0.18 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 38 0.17 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 35 0.16 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 32 0.15 8 3.3E-02
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 37 0.15 1 6.1E-03
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 64 0.15 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 8 37 0.15 1 7.5E-03
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 39 0.14 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 33 0.14 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 33 0.14 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 33 0.14 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 47 0.14 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 76 0.13 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 14 39 0.13 1 7.2E-03
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		143 0 38 0.13 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 75 0.13 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 55 0.13 1 6.4E-03