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:0011197	HP:0011197	EEG with focal spike waves	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent
HP:0011197	HP:0011197	EEG with focal spike waves	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	227
HP:0011197	HP:0011197	EEG with focal spike waves	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	1
HP:0011197	HP:0011197	EEG with focal spike waves	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0011197	HP:0011197	EEG with focal spike waves	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep		4
HP:0011197	HP:0011197	EEG with focal spike waves	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0011197	HP:0011197	EEG with focal spike waves	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep		434
HP:0011197	HP:0011197	EEG with focal spike waves	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0011197	HP:0011197	EEG with focal spike waves	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0011197	HP:0011197	EEG with focal spike waves	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome		119
HP:0011197	HP:0011197	EEG with focal spike waves	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	52
HP:0011197	HP:0011197	EEG with focal spike waves	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011197	HP:0011197	EEG with focal spike waves	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	1053
HP:0011197	HP:0011197	EEG with focal spike waves	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	255
HP:0011197	HP:0011197	EEG with focal spike waves	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	29
HP:0011197	HP:0011197	EEG with focal spike waves	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0011197	HP:0011197	EEG with focal spike waves	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	108
HP:0011197	HP:0011197	EEG with focal spike waves	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	271
HP:0011197	HP:0011197	EEG with focal spike waves	0	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		271
HP:0011197	HP:0012013	EEG with temporal focal spike waves	1	CL E G H
HP:0011197	HP:0012011	EEG with occipital focal spike waves	1	CL E G H
HP:0011197	HP:0012009	EEG with central focal spike waves	1	CL E G H
HP:0011197	HP:0012557	EEG with centrotemporal focal spike waves	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	4
HP:0011197	HP:0012010	EEG with frontal focal spike waves	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	4
HP:0011197	HP:0012557	EEG with centrotemporal focal spike waves	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040281 - Very frequent	139
HP:0011197	HP:0012557	EEG with centrotemporal focal spike waves	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	434
HP:0011197	HP:0012010	EEG with frontal focal spike waves	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	434
HP:0011197	HP:0012557	EEG with centrotemporal focal spike waves	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0011197	HP:0012557	EEG with centrotemporal focal spike waves	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040281 - Very frequent	434
HP:0011197	HP:0012557	EEG with centrotemporal focal spike waves	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040282 - Frequent	119
HP:0011197	HP:0012557	EEG with centrotemporal focal spike waves	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040281 - Very frequent	50
HP:0011197	HP:0012012	EEG with parietal focal spike 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