Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent	15
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	530
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly		19
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy		146
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy		44
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5		49
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1		51
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence		153
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	EFHC1 CL E G H	114327	16406	ORPHA:1941	Juvenile absence epilepsy		153
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy		153
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19		134
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy		134
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	10
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy		10
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8		139
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	139
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	54
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32		13
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome		114
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy		114
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy		302
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly		68
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy		52
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly		162
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1		133
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1		77
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	1053
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy		1053
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	126
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	427
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	318
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy		255
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy		255
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy		29
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	9
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy		108
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia		271
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0010850	HP:0010850	EEG with spike-wave complexes	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0010850	HP:0010847	EEG with spike-wave complexes (<2.5 Hz)	1	CL E G H
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	127
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0010850	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	75
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	.	146
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	146
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	65
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	227
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	227
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	44
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	6
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent	51
HP:0010850	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	1	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence	.	153
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	EFHC1 CL E G H	114327	16406	ORPHA:1941	Juvenile absence epilepsy	HP:0040281 - Very frequent	153
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	153
HP:0010850	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	134
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	134
HP:0010850	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	57
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	10
HP:0010850	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	139
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0010850	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	1	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040284 - Very rare	139
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040284 - Very rare	434
HP:0010850	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent
HP:0010850	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32		13
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0010850	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	1	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040282 - Frequent	114
HP:0010850	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	1	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	.	114
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	302
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	52
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	52
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent	133
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1	.	2
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent	77
HP:0010850	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	1053
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	1053
HP:0010850	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	28
HP:0010850	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	255
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	255
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	255
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	9
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	29
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	29
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040284 - Very rare	50
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	108
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	108
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	4
HP:0010850	HP:0001326	EEG with irregular generalized spike and wave complexes	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent	271
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0010850	HP:0002392	EEG with polyspike wave complexes	1	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56