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:0011193	HP:0011193	EEG with focal spikes	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0011193	HP:0011193	EEG with focal spikes	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0011193	HP:0011193	EEG with focal spikes	0	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome		45
HP:0011193	HP:0011193	EEG with focal spikes	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	94
HP:0011193	HP:0011193	EEG with focal spikes	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	188
HP:0011193	HP:0011193	EEG with focal spikes	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	225
HP:0011193	HP:0011193	EEG with focal spikes	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	88
HP:0011193	HP:0011193	EEG with focal spikes	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0011193	HP:0011193	EEG with focal spikes	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0011193	HP:0011193	EEG with focal spikes	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0011193	HP:0011193	EEG with focal spikes	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0011193	HP:0011193	EEG with focal spikes	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	1
HP:0011193	HP:0011193	EEG with focal spikes	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	172
HP:0011193	HP:0011193	EEG with focal spikes	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0011193	HP:0011193	EEG with focal spikes	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome		434
HP:0011193	HP:0011193	EEG with focal spikes	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	321
HP:0011193	HP:0011193	EEG with focal spikes	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	8
HP:0011193	HP:0011193	EEG with focal spikes	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0011193	HP:0011193	EEG with focal spikes	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
HP:0011193	HP:0011193	EEG with focal spikes	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0011193	HP:0011193	EEG with focal spikes	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0011193	HP:0011193	EEG with focal spikes	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0011193	HP:0011193	EEG with focal spikes	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0011193	HP:0011193	EEG with focal spikes	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0011193	HP:0011193	EEG with focal spikes	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0011193	HP:0011193	EEG with focal spikes	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0011193	HP:0011193	EEG with focal spikes	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011193	HP:0012017	EEG with parietal focal spikes	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0011193	HP:0012014	EEG with central focal spikes	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0011193	HP:0012015	EEG with frontal focal spikes	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0011193	HP:0012018	EEG with temporal focal spikes	1	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome	HP:0040282 - Frequent	45
HP:0011193	HP:0012018	EEG with temporal focal spikes	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0011193	HP:0012018	EEG with temporal focal spikes	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent	434
HP:0011193	HP:0012015	EEG with frontal focal spikes	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent	434
HP:0011193	HP:0012014	EEG with central focal spikes	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0011193	HP:0012015	EEG with frontal focal spikes	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0011193	HP:0012017	EEG with parietal focal spikes	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0011193	HP:0012015	EEG with frontal focal spikes	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0011193	HP:0012017	EEG with parietal focal spikes	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50
HP:0011193	HP:0012014	EEG with central focal spikes	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50
HP:0011193	HP:0011194	EEG with series of focal spikes	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0011193	HP:0012014	EEG with central focal spikes	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011193	HP:0012016	EEG with occipital focal spikes	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011193	HP:0012017	EEG with parietal focal spikes	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF