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: C0036572
Disease: Seizures
Seizures 		2152 553 45 2.1E-02 4 6.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 34 1.8E-02 1 1.7E-03
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		4 392 2 3.1E-02 19 4.7E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 52 4.2E-02 4 1.1E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 30 2.7E-02 1 2.8E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 27 0.12 2 1.3E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 10 9.4E-02 5 3.4E-02
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		46 81 12 0.12 1 8.9E-03
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 76 4 5.7E-02 2 1.9E-02
CUI: C0015967
Disease: Fever
Fever 		1021 66 16 1.5E-02 1 1.0E-02
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		4 58 2 3.1E-02 9 0.11
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 49 12 3.2E-02 1 1.3E-02
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		2 44 1 1.6E-02 1 1.3E-02
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 43 54 0.82 26 0.53
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		10 37 2 2.8E-02 1 1.5E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 22 7.2E-02 1 1.5E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 33 1.0E-01 1 1.6E-02
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 23 11 8.8E-02 1 1.9E-02
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		89 17 15 0.11 1 2.1E-02
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		24 17 4 4.8E-02 1 2.1E-02
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		10 14 4 5.8E-02 1 2.2E-02
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		2 14 1 1.6E-02 3 7.0E-02
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		0 13 0 0 1 2.3E-02
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		13 13 9 0.13 3 7.1E-02
CUI: C0234366
Disease: Ataxic
Ataxic 		15 4 2 2.6E-02 1 2.9E-02