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:0007166	HP:0007166	Paroxysmal dyskinesia	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040282 - Frequent	114
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	.	114
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	PDE2A CL E G H	5138	8777	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040282 - Frequent
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040281 - Very frequent	66
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	PRRT2 CL E G H	112476	30500	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040282 - Frequent	94
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040281 - Very frequent	94
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040281 - Very frequent	94
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	SCN8A CL E G H	6334	10596	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040282 - Frequent	357
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040281 - Very frequent	255
HP:0007166	HP:0007166	Paroxysmal dyskinesia	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040281 - Very frequent	255