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:0002487	HP:0002487	Hyperkinetic movements	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.	108
HP:0002487	HP:0002487	Hyperkinetic movements	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.	5
HP:0002487	HP:0002487	Hyperkinetic movements	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.	11
HP:0002487	HP:0002487	Hyperkinetic movements	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002487	HP:0002487	Hyperkinetic movements	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0002487	HP:0002487	Hyperkinetic movements	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0002487	HP:0002487	Hyperkinetic movements	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.	4
HP:0002487	HP:0002487	Hyperkinetic movements	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0002487	HP:0002487	Hyperkinetic movements	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0002487	HP:0002487	Hyperkinetic movements	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.	36
HP:0002487	HP:0002487	Hyperkinetic movements	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0002487	HP:0002487	Hyperkinetic movements	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.	108
HP:0002487	HP:0002487	Hyperkinetic movements	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0002487	HP:0002487	Hyperkinetic movements	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0002487	HP:0002487	Hyperkinetic movements	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040283 - Occasional	119
HP:0002487	HP:0002487	Hyperkinetic movements	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0002487	HP:0002487	Hyperkinetic movements	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0002487	HP:0002487	Hyperkinetic movements	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040281 - Very frequent	32
HP:0002487	HP:0002487	Hyperkinetic movements	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0002487	HP:0002487	Hyperkinetic movements	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0002487	HP:0002487	Hyperkinetic movements	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040282 - Frequent	66
HP:0002487	HP:0002487	Hyperkinetic movements	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040282 - Frequent	94
HP:0002487	HP:0002487	Hyperkinetic movements	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0002487	HP:0002487	Hyperkinetic movements	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0002487	HP:0002487	Hyperkinetic movements	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0002487	HP:0002487	Hyperkinetic movements	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0002487	HP:0002487	Hyperkinetic movements	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0002487	HP:0002487	Hyperkinetic movements	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0002487	HP:0002487	Hyperkinetic movements	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0002487	HP:0002487	Hyperkinetic movements	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0002487	HP:0002487	Hyperkinetic movements	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0002487	HP:0002487	Hyperkinetic movements	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0002487	HP:0002487	Hyperkinetic movements	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040282 - Frequent	1
HP:0002487	HP:0002487	Hyperkinetic movements	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0002487	HP:0002487	Hyperkinetic movements	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0002487	HP:0002487	Hyperkinetic movements	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent	27
HP:0002487	HP:0002487	Hyperkinetic movements	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0002487	HP:0002487	Hyperkinetic movements	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0002487	HP:0002487	Hyperkinetic movements	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0002487	HP:0002487	Hyperkinetic movements	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0002487	HP:0002487	Hyperkinetic movements	0	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	.