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: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		10 0 4 0.24 0 0
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		11 0 4 0.22 0 0
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		12 0 4 0.21 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 10 0.19 1 5.1E-03
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		2 14 2 0.18 2 2.3E-02
CUI: C2751756
Disease: Febrile Convulsions, Familial, 3a
Febrile Convulsions, Familial, 3a 		2 0 2 0.18 0 0
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		2 52 2 0.18 2 1.6E-02
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 5 0.17 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 6 0.17 0 0
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		3 0 2 0.17 0 0
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		11 0 3 0.16 0 0
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		4 58 2 0.15 3 2.3E-02
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 4 0.15 0 0
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		4 392 2 0.15 18 4.0E-02
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		12 0 3 0.15 0 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		12 0 3 0.15 0 0
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		13 0 3 0.14 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 3 0.14 0 0
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 0 2 0.13 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 3 0.13 0 0
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		16 0 3 0.12 0 0
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn 		17 0 3 0.12 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 3 0.12 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 3 0.12 0 0
CUI: C0338478
Disease: Idiopathic Myoclonic Epilepsy
Idiopathic Myoclonic Epilepsy 		8 0 2 0.12 0 0