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: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 62 0.18 2 5.3E-02
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 24 0.17 0 0
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 0 24 0.16 0 0
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		143 0 32 0.15 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 37 0.15 1 7.5E-03
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 46 0.14 1 2.4E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 52 0.13 4 4.8E-02
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		31 0 16 0.13 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 39 0.13 1 2.9E-02
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 3 15 0.12 1 1.0E-01
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 28 0.12 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 16 0.12 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 14 0.12 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 20 0.12 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 16 0.12 0 0
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		63 0 18 0.12 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 33 0.12 0 0
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		51 0 16 0.11 0 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		12 0 12 0.11 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 17 0.11 0 0
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		23 1 13 0.11 1 0.12
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		27 0 13 0.11 0 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		17 0 12 0.11 0 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		38 0 14 0.11 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 25 0.11 0 0