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:0012002	HP:0012002	Experiential epileptic aura	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci		172
HP:0012002	HP:0012002	Experiential epileptic aura	0	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0012002	HP:0012002	Experiential epileptic aura	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0012002	HP:0012002	Experiential epileptic aura	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0012002	HP:0012002	Experiential epileptic aura	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci		4
HP:0012002	HP:0012002	Experiential epileptic aura	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci		7
HP:0012002	HP:0012002	Experiential epileptic aura	0	PDE2A CL E G H	5138	8777	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040283 - Occasional
HP:0012002	HP:0012002	Experiential epileptic aura	0	PRRT2 CL E G H	112476	30500	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040283 - Occasional	94
HP:0012002	HP:0012002	Experiential epileptic aura	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0012002	HP:0012002	Experiential epileptic aura	0	SCN8A CL E G H	6334	10596	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040283 - Occasional	357
HP:0012002	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	1	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci		172
HP:0012002	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	1	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0012002	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	1	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0012002	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	1	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0012002	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	1	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci		4
HP:0012002	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	1	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci		7
HP:0012002	HP:0012004	Focal cognitive seizure with deja vu/jamais vu	1	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0012002	HP:0032882	Focal impaired awareness cognitive seizure with deja vu/jamais vu	2	CL E G H
HP:0012002	HP:0012006	Jamais vu aura	2	CL E G H
HP:0012002	HP:0032883	Focal aware cognitive seizure with deja vu/jamais vu	2	CL E G H
HP:0012002	HP:0012005	Deja vu aura	2	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	172
HP:0012002	HP:0012005	Deja vu aura	2	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0012002	HP:0012005	Deja vu aura	2	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0012002	HP:0012005	Deja vu aura	2	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0012002	HP:0012005	Deja vu aura	2	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	4
HP:0012002	HP:0012005	Deja vu aura	2	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	7
HP:0012002	HP:0012005	Deja vu aura	2	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334