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:0011196	HP:0011196	EEG with focal sharp waves	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare	239
HP:0011196	HP:0011196	EEG with focal sharp waves	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare	449
HP:0011196	HP:0011196	EEG with focal sharp waves	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	434
HP:0011196	HP:0011196	EEG with focal sharp waves	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	8
HP:0011196	HP:0011196	EEG with focal sharp waves	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
HP:0011196	HP:0011196	EEG with focal sharp waves	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare	94
HP:0011196	HP:0011196	EEG with focal sharp waves	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0011196	HP:0011196	EEG with focal sharp waves	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare	1053
HP:0011196	HP:0011196	EEG with focal sharp waves	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	50
HP:0011196	HP:0011196	EEG with focal sharp waves	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0011196	HP:0011196	EEG with focal sharp waves	0	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		271
HP:0011196	HP:0011296	EEG with temporal sharp waves	1	CL E G H
HP:0011196	HP:0011294	EEG with frontal sharp waves	1	CL E G H
HP:0011196	HP:0011293	EEG with central sharp waves	1	CL E G H
HP:0011196	HP:0011292	EEG with occipital sharp waves	1	CL E G H
HP:0011196	HP:0011295	EEG with parietal sharp waves	1	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	HP:0040282 - Frequent	271