Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000639	HP:0000639	Nystagmus	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0000639	HP:0000639	Nystagmus	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.		143
HP:0000639	HP:0000639	Nystagmus	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000639	HP:0000639	Nystagmus	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040281 - Very frequent		35
HP:0000639	HP:0000639	Nystagmus	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000639	HP:0000639	Nystagmus	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0000639	HP:0000639	Nystagmus	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0000639	HP:0000639	Nystagmus	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0000639	HP:0000639	Nystagmus	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000639	HP:0000639	Nystagmus	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000639	HP:0000639	Nystagmus	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0000639	HP:0000639	Nystagmus	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0000639	HP:0000639	Nystagmus	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		84
HP:0000639	HP:0000639	Nystagmus	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0000639	HP:0000639	Nystagmus	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	HP:0040283 - Occasional		116
HP:0000639	HP:0000639	Nystagmus	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000639	HP:0000639	Nystagmus	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3	.		3
HP:0000639	HP:0000639	Nystagmus	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0000639	HP:0000639	Nystagmus	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.		88
HP:0000639	HP:0000639	Nystagmus	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		530
HP:0000639	HP:0000639	Nystagmus	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0000639	HP:0000639	Nystagmus	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0000639	HP:0000639	Nystagmus	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000639	HP:0000639	Nystagmus	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0000639	HP:0000639	Nystagmus	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040282 - Frequent		86
HP:0000639	HP:0000639	Nystagmus	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000639	HP:0000639	Nystagmus	0	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		82
HP:0000639	HP:0000639	Nystagmus	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0000639	HP:0000639	Nystagmus	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0000639	HP:0000639	Nystagmus	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0000639	HP:0000639	Nystagmus	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000639	HP:0000639	Nystagmus	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000639	HP:0000639	Nystagmus	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		175
HP:0000639	HP:0000639	Nystagmus	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0000639	HP:0000639	Nystagmus	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		175
HP:0000639	HP:0000639	Nystagmus	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000639	HP:0000639	Nystagmus	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000639	HP:0000639	Nystagmus	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0000639	HP:0000639	Nystagmus	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000639	HP:0000639	Nystagmus	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0000639	HP:0000639	Nystagmus	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		114
HP:0000639	HP:0000639	Nystagmus	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000639	HP:0000639	Nystagmus	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0000639	HP:0000639	Nystagmus	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	HP:0040283 - Occasional		89
HP:0000639	HP:0000639	Nystagmus	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional		58
HP:0000639	HP:0000639	Nystagmus	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional		96
HP:0000639	HP:0000639	Nystagmus	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000639	HP:0000639	Nystagmus	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0000639	HP:0000639	Nystagmus	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare		37
HP:0000639	HP:0000639	Nystagmus	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0000639	HP:0000639	Nystagmus	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000639	HP:0000639	Nystagmus	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000639	HP:0000639	Nystagmus	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0000639	HP:0000639	Nystagmus	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0000639	HP:0000639	Nystagmus	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000639	HP:0000639	Nystagmus	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent		132
HP:0000639	HP:0000639	Nystagmus	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		132
HP:0000639	HP:0000639	Nystagmus	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent		150
HP:0000639	HP:0000639	Nystagmus	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0000639	HP:0000639	Nystagmus	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000639	HP:0000639	Nystagmus	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.		64
HP:0000639	HP:0000639	Nystagmus	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0000639	HP:0000639	Nystagmus	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional		8
HP:0000639	HP:0000639	Nystagmus	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0000639	HP:0000639	Nystagmus	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000639	HP:0000639	Nystagmus	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0000639	HP:0000639	Nystagmus	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000639	HP:0000639	Nystagmus	0	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent		1
HP:0000639	HP:0000639	Nystagmus	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		1
HP:0000639	HP:0000639	Nystagmus	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0000639	HP:0000639	Nystagmus	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		3179
HP:0000639	HP:0000639	Nystagmus	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0000639	HP:0000639	Nystagmus	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000639	HP:0000639	Nystagmus	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000639	HP:0000639	Nystagmus	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000639	HP:0000639	Nystagmus	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000639	HP:0000639	Nystagmus	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		62
HP:0000639	HP:0000639	Nystagmus	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000639	HP:0000639	Nystagmus	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000639	HP:0000639	Nystagmus	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		29
HP:0000639	HP:0000639	Nystagmus	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0000639	HP:0000639	Nystagmus	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000639	HP:0000639	Nystagmus	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040282 - Frequent		166
HP:0000639	HP:0000639	Nystagmus	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0000639	HP:0000639	Nystagmus	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0000639	HP:0000639	Nystagmus	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000639	HP:0000639	Nystagmus	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000639	HP:0000639	Nystagmus	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0000639	HP:0000639	Nystagmus	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional		5
HP:0000639	HP:0000639	Nystagmus	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.		72
HP:0000639	HP:0000639	Nystagmus	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent		72
HP:0000639	HP:0000639	Nystagmus	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000639	HP:0000639	Nystagmus	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000639	HP:0000639	Nystagmus	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.		1
HP:0000639	HP:0000639	Nystagmus	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0000639	HP:0000639	Nystagmus	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent		3267
HP:0000639	HP:0000639	Nystagmus	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0000639	HP:0000639	Nystagmus	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000639	HP:0000639	Nystagmus	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0000639	HP:0000639	Nystagmus	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0000639	HP:0000639	Nystagmus	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000639	HP:0000639	Nystagmus	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0000639	HP:0000639	Nystagmus	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.		239
HP:0000639	HP:0000639	Nystagmus	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000639	HP:0000639	Nystagmus	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000639	HP:0000639	Nystagmus	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0000639	HP:0000639	Nystagmus	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0000639	HP:0000639	Nystagmus	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.		150
HP:0000639	HP:0000639	Nystagmus	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000639	HP:0000639	Nystagmus	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0000639	HP:0000639	Nystagmus	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.		19
HP:0000639	HP:0000639	Nystagmus	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0000639	HP:0000639	Nystagmus	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000639	HP:0000639	Nystagmus	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0000639	HP:0000639	Nystagmus	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000639	HP:0000639	Nystagmus	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0000639	HP:0000639	Nystagmus	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000639	HP:0000639	Nystagmus	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional		19
HP:0000639	HP:0000639	Nystagmus	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0000639	HP:0000639	Nystagmus	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent		9
HP:0000639	HP:0000639	Nystagmus	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0000639	HP:0000639	Nystagmus	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0000639	HP:0000639	Nystagmus	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000639	HP:0000639	Nystagmus	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000639	HP:0000639	Nystagmus	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000639	HP:0000639	Nystagmus	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000639	HP:0000639	Nystagmus	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000639	HP:0000639	Nystagmus	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000639	HP:0000639	Nystagmus	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000639	HP:0000639	Nystagmus	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000639	HP:0000639	Nystagmus	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0000639	HP:0000639	Nystagmus	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000639	HP:0000639	Nystagmus	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	HP:0040283 - Occasional		25
HP:0000639	HP:0000639	Nystagmus	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		28
HP:0000639	HP:0000639	Nystagmus	0	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.		28
HP:0000639	HP:0000639	Nystagmus	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		34
HP:0000639	HP:0000639	Nystagmus	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		114
HP:0000639	HP:0000639	Nystagmus	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0000639	HP:0000639	Nystagmus	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000639	HP:0000639	Nystagmus	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		118
HP:0000639	HP:0000639	Nystagmus	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		71
HP:0000639	HP:0000639	Nystagmus	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		97
HP:0000639	HP:0000639	Nystagmus	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000639	HP:0000639	Nystagmus	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		87
HP:0000639	HP:0000639	Nystagmus	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		25
HP:0000639	HP:0000639	Nystagmus	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		66
HP:0000639	HP:0000639	Nystagmus	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		119
HP:0000639	HP:0000639	Nystagmus	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000639	HP:0000639	Nystagmus	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0000639	HP:0000639	Nystagmus	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0000639	HP:0000639	Nystagmus	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	.		1
HP:0000639	HP:0000639	Nystagmus	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000639	HP:0000639	Nystagmus	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0000639	HP:0000639	Nystagmus	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000639	HP:0000639	Nystagmus	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000639	HP:0000639	Nystagmus	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.	HP:0003577 - Congenital onset	35
HP:0000639	HP:0000639	Nystagmus	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional		38
HP:0000639	HP:0000639	Nystagmus	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000639	HP:0000639	Nystagmus	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0000639	HP:0000639	Nystagmus	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000639	HP:0000639	Nystagmus	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0000639	HP:0000639	Nystagmus	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000639	HP:0000639	Nystagmus	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000639	HP:0000639	Nystagmus	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000639	HP:0000639	Nystagmus	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0000639	HP:0000639	Nystagmus	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000639	HP:0000639	Nystagmus	0	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000639	HP:0000639	Nystagmus	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		94
HP:0000639	HP:0000639	Nystagmus	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0000639	HP:0000639	Nystagmus	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0000639	HP:0000639	Nystagmus	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000639	HP:0000639	Nystagmus	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000639	HP:0000639	Nystagmus	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040281 - Very frequent		449
HP:0000639	HP:0000639	Nystagmus	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.		449
HP:0000639	HP:0000639	Nystagmus	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0000639	HP:0000639	Nystagmus	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0000639	HP:0000639	Nystagmus	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent		449
HP:0000639	HP:0000639	Nystagmus	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0000639	HP:0000639	Nystagmus	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0000639	HP:0000639	Nystagmus	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.		11
HP:0000639	HP:0000639	Nystagmus	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.		58
HP:0000639	HP:0000639	Nystagmus	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0000639	HP:0000639	Nystagmus	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	HP:0040283 - Occasional		58
HP:0000639	HP:0000639	Nystagmus	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		58
HP:0000639	HP:0000639	Nystagmus	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000639	HP:0000639	Nystagmus	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000639	HP:0000639	Nystagmus	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional		32
HP:0000639	HP:0000639	Nystagmus	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0000639	HP:0000639	Nystagmus	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.		48
HP:0000639	HP:0000639	Nystagmus	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		129
HP:0000639	HP:0000639	Nystagmus	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000639	HP:0000639	Nystagmus	0	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0000639	HP:0000639	Nystagmus	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0000639	HP:0000639	Nystagmus	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000639	HP:0000639	Nystagmus	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0000639	HP:0000639	Nystagmus	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000639	HP:0000639	Nystagmus	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	HP:0040283 - Occasional		118
HP:0000639	HP:0000639	Nystagmus	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000639	HP:0000639	Nystagmus	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0000639	HP:0000639	Nystagmus	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		317
HP:0000639	HP:0000639	Nystagmus	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000639	HP:0000639	Nystagmus	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		247
HP:0000639	HP:0000639	Nystagmus	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0000639	HP:0000639	Nystagmus	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0000639	HP:0000639	Nystagmus	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040283 - Occasional		87
HP:0000639	HP:0000639	Nystagmus	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000639	HP:0000639	Nystagmus	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000639	HP:0000639	Nystagmus	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.		20
HP:0000639	HP:0000639	Nystagmus	0	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0000639	HP:0000639	Nystagmus	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		5
HP:0000639	HP:0000639	Nystagmus	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		7
HP:0000639	HP:0000639	Nystagmus	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.		7
HP:0000639	HP:0000639	Nystagmus	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		7
HP:0000639	HP:0000639	Nystagmus	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional		34
HP:0000639	HP:0000639	Nystagmus	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		342
HP:0000639	HP:0000639	Nystagmus	0	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0000639	HP:0000639	Nystagmus	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0000639	HP:0000639	Nystagmus	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0000639	HP:0000639	Nystagmus	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		342
HP:0000639	HP:0000639	Nystagmus	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		90
HP:0000639	HP:0000639	Nystagmus	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		90
HP:0000639	HP:0000639	Nystagmus	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000639	HP:0000639	Nystagmus	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000639	HP:0000639	Nystagmus	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0000639	HP:0000639	Nystagmus	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0000639	HP:0000639	Nystagmus	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0000639	HP:0000639	Nystagmus	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0000639	HP:0000639	Nystagmus	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0000639	HP:0000639	Nystagmus	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000639	HP:0000639	Nystagmus	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000639	HP:0000639	Nystagmus	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		3
HP:0000639	HP:0000639	Nystagmus	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000639	HP:0000639	Nystagmus	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000639	HP:0000639	Nystagmus	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000639	HP:0000639	Nystagmus	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0000639	HP:0000639	Nystagmus	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000639	HP:0000639	Nystagmus	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0000639	HP:0000639	Nystagmus	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040281 - Very frequent		42
HP:0000639	HP:0000639	Nystagmus	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.		42
HP:0000639	HP:0000639	Nystagmus	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000639	HP:0000639	Nystagmus	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	HP:0040283 - Occasional		141
HP:0000639	HP:0000639	Nystagmus	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent		141
HP:0000639	HP:0000639	Nystagmus	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0000639	HP:0000639	Nystagmus	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional		38
HP:0000639	HP:0000639	Nystagmus	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0000639	HP:0000639	Nystagmus	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000639	HP:0000639	Nystagmus	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0000639	HP:0000639	Nystagmus	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000639	HP:0000639	Nystagmus	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000639	HP:0000639	Nystagmus	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2	.		82
HP:0000639	HP:0000639	Nystagmus	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000639	HP:0000639	Nystagmus	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000639	HP:0000639	Nystagmus	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000639	HP:0000639	Nystagmus	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0000639	HP:0000639	Nystagmus	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.		61
HP:0000639	HP:0000639	Nystagmus	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent		61
HP:0000639	HP:0000639	Nystagmus	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000639	HP:0000639	Nystagmus	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0000639	HP:0000639	Nystagmus	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0000639	HP:0000639	Nystagmus	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0000639	HP:0000639	Nystagmus	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040283 - Occasional		215
HP:0000639	HP:0000639	Nystagmus	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0000639	HP:0000639	Nystagmus	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent		177
HP:0000639	HP:0000639	Nystagmus	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.		177
HP:0000639	HP:0000639	Nystagmus	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0000639	HP:0000639	Nystagmus	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0000639	HP:0000639	Nystagmus	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0000639	HP:0000639	Nystagmus	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0000639	HP:0000639	Nystagmus	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000639	HP:0000639	Nystagmus	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000639	HP:0000639	Nystagmus	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0000639	HP:0000639	Nystagmus	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional		115
HP:0000639	HP:0000639	Nystagmus	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000639	HP:0000639	Nystagmus	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000639	HP:0000639	Nystagmus	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000639	HP:0000639	Nystagmus	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		156
HP:0000639	HP:0000639	Nystagmus	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000639	HP:0000639	Nystagmus	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000639	HP:0000639	Nystagmus	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12	.		156
HP:0000639	HP:0000639	Nystagmus	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0000639	HP:0000639	Nystagmus	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0000639	HP:0000639	Nystagmus	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		158
HP:0000639	HP:0000639	Nystagmus	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7			158
HP:0000639	HP:0000639	Nystagmus	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000639	HP:0000639	Nystagmus	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.		33
HP:0000639	HP:0000639	Nystagmus	0	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		33
HP:0000639	HP:0000639	Nystagmus	0	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		10
HP:0000639	HP:0000639	Nystagmus	0	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.		18
HP:0000639	HP:0000639	Nystagmus	0	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		18
HP:0000639	HP:0000639	Nystagmus	0	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		13
HP:0000639	HP:0000639	Nystagmus	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.		11
HP:0000639	HP:0000639	Nystagmus	0	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		11
HP:0000639	HP:0000639	Nystagmus	0	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		29
HP:0000639	HP:0000639	Nystagmus	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0000639	HP:0000639	Nystagmus	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		57
HP:0000639	HP:0000639	Nystagmus	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000639	HP:0000639	Nystagmus	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0000639	HP:0000639	Nystagmus	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0000639	HP:0000639	Nystagmus	0	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7	.		88
HP:0000639	HP:0000639	Nystagmus	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0000639	HP:0000639	Nystagmus	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	CYP1B1 CL E G H	1545	2597	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		101
HP:0000639	HP:0000639	Nystagmus	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0000639	HP:0000639	Nystagmus	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare		57
HP:0000639	HP:0000639	Nystagmus	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	HP:0040283 - Occasional		57
HP:0000639	HP:0000639	Nystagmus	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	HP:0040283 - Occasional		4
HP:0000639	HP:0000639	Nystagmus	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0000639	HP:0000639	Nystagmus	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000639	HP:0000639	Nystagmus	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0000639	HP:0000639	Nystagmus	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.		60
HP:0000639	HP:0000639	Nystagmus	0	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040282 - Frequent		36
HP:0000639	HP:0000639	Nystagmus	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0000639	HP:0000639	Nystagmus	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000639	HP:0000639	Nystagmus	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.		145
HP:0000639	HP:0000639	Nystagmus	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000639	HP:0000639	Nystagmus	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0000639	HP:0000639	Nystagmus	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0000639	HP:0000639	Nystagmus	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.		72
HP:0000639	HP:0000639	Nystagmus	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent		72
HP:0000639	HP:0000639	Nystagmus	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000639	HP:0000639	Nystagmus	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0000639	HP:0000639	Nystagmus	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0000639	HP:0000639	Nystagmus	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000639	HP:0000639	Nystagmus	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000639	HP:0000639	Nystagmus	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000639	HP:0000639	Nystagmus	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0000639	HP:0000639	Nystagmus	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0000639	HP:0000639	Nystagmus	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0000639	HP:0000639	Nystagmus	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0000639	HP:0000639	Nystagmus	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		94
HP:0000639	HP:0000639	Nystagmus	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0000639	HP:0000639	Nystagmus	0	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48
HP:0000639	HP:0000639	Nystagmus	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0000639	HP:0000639	Nystagmus	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000639	HP:0000639	Nystagmus	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0000639	HP:0000639	Nystagmus	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0000639	HP:0000639	Nystagmus	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0000639	HP:0000639	Nystagmus	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0000639	HP:0000639	Nystagmus	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000639	HP:0000639	Nystagmus	0	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000639	HP:0000639	Nystagmus	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0000639	HP:0000639	Nystagmus	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000639	HP:0000639	Nystagmus	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0000639	HP:0000639	Nystagmus	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000639	HP:0000639	Nystagmus	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0000639	HP:0000639	Nystagmus	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0000639	HP:0000639	Nystagmus	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.		33
HP:0000639	HP:0000639	Nystagmus	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0000639	HP:0000639	Nystagmus	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0000639	HP:0000639	Nystagmus	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.		4
HP:0000639	HP:0000639	Nystagmus	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0000639	HP:0000639	Nystagmus	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	HP:0040283 - Occasional		58
HP:0000639	HP:0000639	Nystagmus	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040282 - Frequent		8
HP:0000639	HP:0000639	Nystagmus	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000639	HP:0000639	Nystagmus	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000639	HP:0000639	Nystagmus	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000639	HP:0000639	Nystagmus	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.		62
HP:0000639	HP:0000639	Nystagmus	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent		62
HP:0000639	HP:0000639	Nystagmus	0	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.		4
HP:0000639	HP:0000639	Nystagmus	0	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38	HP:0040281 - Very frequent		4
HP:0000639	HP:0000639	Nystagmus	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000639	HP:0000639	Nystagmus	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0000639	HP:0000639	Nystagmus	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040282 - Frequent		40
HP:0000639	HP:0000639	Nystagmus	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0000639	HP:0000639	Nystagmus	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000639	HP:0000639	Nystagmus	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0000639	HP:0000639	Nystagmus	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0000639	HP:0000639	Nystagmus	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000639	HP:0000639	Nystagmus	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0000639	HP:0000639	Nystagmus	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		106
HP:0000639	HP:0000639	Nystagmus	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000639	HP:0000639	Nystagmus	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		54
HP:0000639	HP:0000639	Nystagmus	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0000639	HP:0000639	Nystagmus	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000639	HP:0000639	Nystagmus	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0000639	HP:0000639	Nystagmus	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		158
HP:0000639	HP:0000639	Nystagmus	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		83
HP:0000639	HP:0000639	Nystagmus	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0000639	HP:0000639	Nystagmus	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0000639	HP:0000639	Nystagmus	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0000639	HP:0000639	Nystagmus	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0000639	HP:0000639	Nystagmus	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0000639	HP:0000639	Nystagmus	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0000639	HP:0000639	Nystagmus	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0000639	HP:0000639	Nystagmus	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0000639	HP:0000639	Nystagmus	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0000639	HP:0000639	Nystagmus	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0000639	HP:0000639	Nystagmus	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040282 - Frequent		36
HP:0000639	HP:0000639	Nystagmus	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0000639	HP:0000639	Nystagmus	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	HP:0040284 - Very rare
HP:0000639	HP:0000639	Nystagmus	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000639	HP:0000639	Nystagmus	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0000639	HP:0000639	Nystagmus	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000639	HP:0000639	Nystagmus	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000639	HP:0000639	Nystagmus	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000639	HP:0000639	Nystagmus	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0000639	HP:0000639	Nystagmus	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		102
HP:0000639	HP:0000639	Nystagmus	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000639	HP:0000639	Nystagmus	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000639	HP:0000639	Nystagmus	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0000639	HP:0000639	Nystagmus	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000639	HP:0000639	Nystagmus	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000639	HP:0000639	Nystagmus	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000639	HP:0000639	Nystagmus	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000639	HP:0000639	Nystagmus	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000639	HP:0000639	Nystagmus	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000639	HP:0000639	Nystagmus	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000639	HP:0000639	Nystagmus	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000639	HP:0000639	Nystagmus	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000639	HP:0000639	Nystagmus	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000639	HP:0000639	Nystagmus	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000639	HP:0000639	Nystagmus	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0000639	HP:0000639	Nystagmus	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0000639	HP:0000639	Nystagmus	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	HP:0040284 - Very rare		2
HP:0000639	HP:0000639	Nystagmus	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		1361
HP:0000639	HP:0000639	Nystagmus	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional		384
HP:0000639	HP:0000639	Nystagmus	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0000639	HP:0000639	Nystagmus	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0000639	HP:0000639	Nystagmus	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy	.
HP:0000639	HP:0000639	Nystagmus	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000639	HP:0000639	Nystagmus	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0000639	HP:0000639	Nystagmus	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0000639	HP:0000639	Nystagmus	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0000639	HP:0000639	Nystagmus	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		172
HP:0000639	HP:0000639	Nystagmus	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000639	HP:0000639	Nystagmus	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000639	HP:0000639	Nystagmus	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome	.		30
HP:0000639	HP:0000639	Nystagmus	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000639	HP:0000639	Nystagmus	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		63
HP:0000639	HP:0000639	Nystagmus	0	FOXC1 CL E G H	2296	3800	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		63
HP:0000639	HP:0000639	Nystagmus	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2	.		23
HP:0000639	HP:0000639	Nystagmus	0	FOXE3 CL E G H	2301	3808	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		23
HP:0000639	HP:0000639	Nystagmus	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.		92
HP:0000639	HP:0000639	Nystagmus	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040284 - Very rare		92
HP:0000639	HP:0000639	Nystagmus	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0000639	HP:0000639	Nystagmus	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0000639	HP:0000639	Nystagmus	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0000639	HP:0000639	Nystagmus	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0000639	HP:0000639	Nystagmus	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000639	HP:0000639	Nystagmus	0	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked			38
HP:0000639	HP:0000639	Nystagmus	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000639	HP:0000639	Nystagmus	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	HP:0040283 - Occasional		4
HP:0000639	HP:0000639	Nystagmus	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000639	HP:0000639	Nystagmus	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0000639	HP:0000639	Nystagmus	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent		18
HP:0000639	HP:0000639	Nystagmus	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0000639	HP:0000639	Nystagmus	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0000639	HP:0000639	Nystagmus	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0000639	HP:0000639	Nystagmus	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0000639	HP:0000639	Nystagmus	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000639	HP:0000639	Nystagmus	0	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.		139
HP:0000639	HP:0000639	Nystagmus	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0000639	HP:0000639	Nystagmus	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0000639	HP:0000639	Nystagmus	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000639	HP:0000639	Nystagmus	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0000639	HP:0000639	Nystagmus	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000639	HP:0000639	Nystagmus	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000639	HP:0000639	Nystagmus	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000639	HP:0000639	Nystagmus	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent		30
HP:0000639	HP:0000639	Nystagmus	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0000639	HP:0000639	Nystagmus	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0000639	HP:0000639	Nystagmus	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0000639	HP:0000639	Nystagmus	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000639	HP:0000639	Nystagmus	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0000639	HP:0000639	Nystagmus	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			7
HP:0000639	HP:0000639	Nystagmus	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		64
HP:0000639	HP:0000639	Nystagmus	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			64
HP:0000639	HP:0000639	Nystagmus	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000639	HP:0000639	Nystagmus	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0000639	HP:0000639	Nystagmus	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000639	HP:0000639	Nystagmus	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.		85
HP:0000639	HP:0000639	Nystagmus	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0000639	HP:0000639	Nystagmus	0	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		34
HP:0000639	HP:0000639	Nystagmus	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	HP:0040283 - Occasional		107
HP:0000639	HP:0000639	Nystagmus	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent		107
HP:0000639	HP:0000639	Nystagmus	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0000639	HP:0000639	Nystagmus	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent		17
HP:0000639	HP:0000639	Nystagmus	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0000639	HP:0000639	Nystagmus	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional		24
HP:0000639	HP:0000639	Nystagmus	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0000639	HP:0000639	Nystagmus	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	HP:0040283 - Occasional		34
HP:0000639	HP:0000639	Nystagmus	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional		34
HP:0000639	HP:0000639	Nystagmus	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0000639	HP:0000639	Nystagmus	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent		101
HP:0000639	HP:0000639	Nystagmus	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0000639	HP:0000639	Nystagmus	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0000639	HP:0000639	Nystagmus	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0000639	HP:0000639	Nystagmus	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.		101
HP:0000639	HP:0000639	Nystagmus	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		39
HP:0000639	HP:0000639	Nystagmus	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000639	HP:0000639	Nystagmus	0	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000639	HP:0000639	Nystagmus	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000639	HP:0000639	Nystagmus	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.		12
HP:0000639	HP:0000639	Nystagmus	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		5
HP:0000639	HP:0000639	Nystagmus	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0000639	HP:0000639	Nystagmus	0	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.		7
HP:0000639	HP:0000639	Nystagmus	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0000639	HP:0000639	Nystagmus	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000639	HP:0000639	Nystagmus	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.		64
HP:0000639	HP:0000639	Nystagmus	0	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000639	HP:0000639	Nystagmus	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		64
HP:0000639	HP:0000639	Nystagmus	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		124
HP:0000639	HP:0000639	Nystagmus	0	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.		124
HP:0000639	HP:0000639	Nystagmus	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0000639	HP:0000639	Nystagmus	0	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency			18
HP:0000639	HP:0000639	Nystagmus	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000639	HP:0000639	Nystagmus	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000639	HP:0000639	Nystagmus	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		4
HP:0000639	HP:0000639	Nystagmus	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000639	HP:0000639	Nystagmus	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000639	HP:0000639	Nystagmus	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		63
HP:0000639	HP:0000639	Nystagmus	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000639	HP:0000639	Nystagmus	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000639	HP:0000639	Nystagmus	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000639	HP:0000639	Nystagmus	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000639	HP:0000639	Nystagmus	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000639	HP:0000639	Nystagmus	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		124
HP:0000639	HP:0000639	Nystagmus	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000639	HP:0000639	Nystagmus	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000639	HP:0000639	Nystagmus	0	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0000639	HP:0000639	Nystagmus	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0000639	HP:0000639	Nystagmus	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0000639	HP:0000639	Nystagmus	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.		11
HP:0000639	HP:0000639	Nystagmus	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0000639	HP:0000639	Nystagmus	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		21
HP:0000639	HP:0000639	Nystagmus	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000639	HP:0000639	Nystagmus	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0000639	HP:0000639	Nystagmus	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent		32
HP:0000639	HP:0000639	Nystagmus	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000639	HP:0000639	Nystagmus	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0000639	HP:0000639	Nystagmus	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000639	HP:0000639	Nystagmus	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000639	HP:0000639	Nystagmus	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000639	HP:0000639	Nystagmus	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	.		2
HP:0000639	HP:0000639	Nystagmus	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000639	HP:0000639	Nystagmus	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000639	HP:0000639	Nystagmus	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000639	HP:0000639	Nystagmus	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0000639	HP:0000639	Nystagmus	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000639	HP:0000639	Nystagmus	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000639	HP:0000639	Nystagmus	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000639	HP:0000639	Nystagmus	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.		45
HP:0000639	HP:0000639	Nystagmus	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0000639	HP:0000639	Nystagmus	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0000639	HP:0000639	Nystagmus	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000639	HP:0000639	Nystagmus	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000639	HP:0000639	Nystagmus	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.		98
HP:0000639	HP:0000639	Nystagmus	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0000639	HP:0000639	Nystagmus	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000639	HP:0000639	Nystagmus	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	HP:0040283 - Occasional		34
HP:0000639	HP:0000639	Nystagmus	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000639	HP:0000639	Nystagmus	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		31
HP:0000639	HP:0000639	Nystagmus	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000639	HP:0000639	Nystagmus	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0000639	HP:0000639	Nystagmus	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000639	HP:0000639	Nystagmus	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000639	HP:0000639	Nystagmus	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0000639	HP:0000639	Nystagmus	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0000639	HP:0000639	Nystagmus	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0000639	HP:0000639	Nystagmus	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		93
HP:0000639	HP:0000639	Nystagmus	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		148
HP:0000639	HP:0000639	Nystagmus	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000639	HP:0000639	Nystagmus	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0000639	HP:0000639	Nystagmus	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		48
HP:0000639	HP:0000639	Nystagmus	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000639	HP:0000639	Nystagmus	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		11
HP:0000639	HP:0000639	Nystagmus	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		4
HP:0000639	HP:0000639	Nystagmus	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000639	HP:0000639	Nystagmus	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		3
HP:0000639	HP:0000639	Nystagmus	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000639	HP:0000639	Nystagmus	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000639	HP:0000639	Nystagmus	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000639	HP:0000639	Nystagmus	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000639	HP:0000639	Nystagmus	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		52
HP:0000639	HP:0000639	Nystagmus	0	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11			52
HP:0000639	HP:0000639	Nystagmus	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000639	HP:0000639	Nystagmus	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0000639	HP:0000639	Nystagmus	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000639	HP:0000639	Nystagmus	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000639	HP:0000639	Nystagmus	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		111
HP:0000639	HP:0000639	Nystagmus	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		111
HP:0000639	HP:0000639	Nystagmus	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		111
HP:0000639	HP:0000639	Nystagmus	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		7
HP:0000639	HP:0000639	Nystagmus	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000639	HP:0000639	Nystagmus	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		61
HP:0000639	HP:0000639	Nystagmus	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000639	HP:0000639	Nystagmus	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0000639	HP:0000639	Nystagmus	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0000639	HP:0000639	Nystagmus	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.		177
HP:0000639	HP:0000639	Nystagmus	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000639	HP:0000639	Nystagmus	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.		177
HP:0000639	HP:0000639	Nystagmus	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent		177
HP:0000639	HP:0000639	Nystagmus	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000639	HP:0000639	Nystagmus	0	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2			26
HP:0000639	HP:0000639	Nystagmus	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000639	HP:0000639	Nystagmus	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000639	HP:0000639	Nystagmus	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0000639	HP:0000639	Nystagmus	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0000639	HP:0000639	Nystagmus	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent		17
HP:0000639	HP:0000639	Nystagmus	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000639	HP:0000639	Nystagmus	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional		35
HP:0000639	HP:0000639	Nystagmus	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000639	HP:0000639	Nystagmus	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		42
HP:0000639	HP:0000639	Nystagmus	0	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0000639	HP:0000639	Nystagmus	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000639	HP:0000639	Nystagmus	0	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040283 - Occasional		114
HP:0000639	HP:0000639	Nystagmus	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0000639	HP:0000639	Nystagmus	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000639	HP:0000639	Nystagmus	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000639	HP:0000639	Nystagmus	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0000639	HP:0000639	Nystagmus	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000639	HP:0000639	Nystagmus	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		24
HP:0000639	HP:0000639	Nystagmus	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000639	HP:0000639	Nystagmus	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000639	HP:0000639	Nystagmus	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	HP:0040283 - Occasional		276
HP:0000639	HP:0000639	Nystagmus	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0000639	HP:0000639	Nystagmus	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive			38
HP:0000639	HP:0000639	Nystagmus	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	HP:0040283 - Occasional		15
HP:0000639	HP:0000639	Nystagmus	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0000639	HP:0000639	Nystagmus	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000639	HP:0000639	Nystagmus	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0000639	HP:0000639	Nystagmus	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000639	HP:0000639	Nystagmus	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.		1
HP:0000639	HP:0000639	Nystagmus	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000639	HP:0000639	Nystagmus	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000639	HP:0000639	Nystagmus	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0000639	HP:0000639	Nystagmus	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0000639	HP:0000639	Nystagmus	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0000639	HP:0000639	Nystagmus	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		196
HP:0000639	HP:0000639	Nystagmus	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000639	HP:0000639	Nystagmus	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0000639	HP:0000639	Nystagmus	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0000639	HP:0000639	Nystagmus	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0000639	HP:0000639	Nystagmus	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0000639	HP:0000639	Nystagmus	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040283 - Occasional		134
HP:0000639	HP:0000639	Nystagmus	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0000639	HP:0000639	Nystagmus	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0000639	HP:0000639	Nystagmus	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040283 - Occasional		35
HP:0000639	HP:0000639	Nystagmus	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0000639	HP:0000639	Nystagmus	0	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0000639	HP:0000639	Nystagmus	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0000639	HP:0000639	Nystagmus	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		70
HP:0000639	HP:0000639	Nystagmus	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000639	HP:0000639	Nystagmus	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000639	HP:0000639	Nystagmus	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000639	HP:0000639	Nystagmus	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000639	HP:0000639	Nystagmus	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0000639	HP:0000639	Nystagmus	0	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types	.		16
HP:0000639	HP:0000639	Nystagmus	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0000639	HP:0000639	Nystagmus	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000639	HP:0000639	Nystagmus	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0000639	HP:0000639	Nystagmus	0	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000639	HP:0000639	Nystagmus	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0000639	HP:0000639	Nystagmus	0	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0000639	HP:0000639	Nystagmus	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040283 - Occasional		8
HP:0000639	HP:0000639	Nystagmus	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		62
HP:0000639	HP:0000639	Nystagmus	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000639	HP:0000639	Nystagmus	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000639	HP:0000639	Nystagmus	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000639	HP:0000639	Nystagmus	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		54
HP:0000639	HP:0000639	Nystagmus	0	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V	.		13
HP:0000639	HP:0000639	Nystagmus	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		124
HP:0000639	HP:0000639	Nystagmus	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040283 - Occasional		125
HP:0000639	HP:0000639	Nystagmus	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000639	HP:0000639	Nystagmus	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000639	HP:0000639	Nystagmus	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0000639	HP:0000639	Nystagmus	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0000639	HP:0000639	Nystagmus	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000639	HP:0000639	Nystagmus	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000639	HP:0000639	Nystagmus	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		43
HP:0000639	HP:0000639	Nystagmus	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000639	HP:0000639	Nystagmus	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.		5
HP:0000639	HP:0000639	Nystagmus	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		21
HP:0000639	HP:0000639	Nystagmus	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000639	HP:0000639	Nystagmus	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0000639	HP:0000639	Nystagmus	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000639	HP:0000639	Nystagmus	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0000639	HP:0000639	Nystagmus	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0000639	HP:0000639	Nystagmus	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3	.		134
HP:0000639	HP:0000639	Nystagmus	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0000639	HP:0000639	Nystagmus	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0000639	HP:0000639	Nystagmus	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000639	HP:0000639	Nystagmus	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000639	HP:0000639	Nystagmus	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000639	HP:0000639	Nystagmus	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0000639	HP:0000639	Nystagmus	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0000639	HP:0000639	Nystagmus	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000639	HP:0000639	Nystagmus	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000639	HP:0000639	Nystagmus	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040282 - Frequent		78
HP:0000639	HP:0000639	Nystagmus	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.		6
HP:0000639	HP:0000639	Nystagmus	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000639	HP:0000639	Nystagmus	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000639	HP:0000639	Nystagmus	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000639	HP:0000639	Nystagmus	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000639	HP:0000639	Nystagmus	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000639	HP:0000639	Nystagmus	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		69
HP:0000639	HP:0000639	Nystagmus	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		127
HP:0000639	HP:0000639	Nystagmus	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		127
HP:0000639	HP:0000639	Nystagmus	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0000639	HP:0000639	Nystagmus	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		127
HP:0000639	HP:0000639	Nystagmus	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000639	HP:0000639	Nystagmus	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000639	HP:0000639	Nystagmus	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent		101
HP:0000639	HP:0000639	Nystagmus	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000639	HP:0000639	Nystagmus	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.		50
HP:0000639	HP:0000639	Nystagmus	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0000639	HP:0000639	Nystagmus	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000639	HP:0000639	Nystagmus	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0000639	HP:0000639	Nystagmus	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0000639	HP:0000639	Nystagmus	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0000639	HP:0000639	Nystagmus	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0000639	HP:0000639	Nystagmus	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000639	HP:0000639	Nystagmus	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional		9
HP:0000639	HP:0000639	Nystagmus	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0000639	HP:0000639	Nystagmus	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	HP:0040283 - Occasional		134
HP:0000639	HP:0000639	Nystagmus	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		134
HP:0000639	HP:0000639	Nystagmus	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0000639	HP:0000639	Nystagmus	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0000639	HP:0000639	Nystagmus	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000639	HP:0000639	Nystagmus	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0000639	HP:0000639	Nystagmus	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0000639	HP:0000639	Nystagmus	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0000639	HP:0000639	Nystagmus	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040284 - Very rare		183
HP:0000639	HP:0000639	Nystagmus	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent		19
HP:0000639	HP:0000639	Nystagmus	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.		19
HP:0000639	HP:0000639	Nystagmus	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	HP:0040283 - Occasional		217
HP:0000639	HP:0000639	Nystagmus	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0000639	HP:0000639	Nystagmus	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	HP:0040283 - Occasional		88
HP:0000639	HP:0000639	Nystagmus	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0000639	HP:0000639	Nystagmus	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000639	HP:0000639	Nystagmus	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	.		150
HP:0000639	HP:0000639	Nystagmus	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent		35
HP:0000639	HP:0000639	Nystagmus	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional		35
HP:0000639	HP:0000639	Nystagmus	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		516
HP:0000639	HP:0000639	Nystagmus	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000639	HP:0000639	Nystagmus	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0000639	HP:0000639	Nystagmus	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000639	HP:0000639	Nystagmus	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0000639	HP:0000639	Nystagmus	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.		14
HP:0000639	HP:0000639	Nystagmus	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0000639	HP:0000639	Nystagmus	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent		47
HP:0000639	HP:0000639	Nystagmus	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0000639	HP:0000639	Nystagmus	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0000639	HP:0000639	Nystagmus	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0000639	HP:0000639	Nystagmus	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0000639	HP:0000639	Nystagmus	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0000639	HP:0000639	Nystagmus	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0000639	HP:0000639	Nystagmus	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0000639	HP:0000639	Nystagmus	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000639	HP:0000639	Nystagmus	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	HP:0040283 - Occasional		39
HP:0000639	HP:0000639	Nystagmus	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040282 - Frequent		39
HP:0000639	HP:0000639	Nystagmus	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000639	HP:0000639	Nystagmus	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0000639	HP:0000639	Nystagmus	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.		7
HP:0000639	HP:0000639	Nystagmus	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0000639	HP:0000639	Nystagmus	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0000639	HP:0000639	Nystagmus	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	.		32
HP:0000639	HP:0000639	Nystagmus	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0000639	HP:0000639	Nystagmus	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0000639	HP:0000639	Nystagmus	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0000639	HP:0000639	Nystagmus	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000639	HP:0000639	Nystagmus	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	HP:0040284 - Very rare		26
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16	.		34
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0000639	HP:0000639	Nystagmus	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0000639	HP:0000639	Nystagmus	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.		3
HP:0000639	HP:0000639	Nystagmus	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0000639	HP:0000639	Nystagmus	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0000639	HP:0000639	Nystagmus	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0000639	HP:0000639	Nystagmus	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0000639	HP:0000639	Nystagmus	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0000639	HP:0000639	Nystagmus	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0000639	HP:0000639	Nystagmus	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0000639	HP:0000639	Nystagmus	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0000639	HP:0000639	Nystagmus	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0000639	HP:0000639	Nystagmus	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0000639	HP:0000639	Nystagmus	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0000639	HP:0000639	Nystagmus	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000639	HP:0000639	Nystagmus	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000639	HP:0000639	Nystagmus	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0000639	HP:0000639	Nystagmus	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0000639	HP:0000639	Nystagmus	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.		21
HP:0000639	HP:0000639	Nystagmus	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0000639	HP:0000639	Nystagmus	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0000639	HP:0000639	Nystagmus	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0000639	HP:0000639	Nystagmus	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0000639	HP:0000639	Nystagmus	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.		42
HP:0000639	HP:0000639	Nystagmus	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0000639	HP:0000639	Nystagmus	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0000639	HP:0000639	Nystagmus	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000639	HP:0000639	Nystagmus	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000639	HP:0000639	Nystagmus	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.		27
HP:0000639	HP:0000639	Nystagmus	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.		118
HP:0000639	HP:0000639	Nystagmus	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000639	HP:0000639	Nystagmus	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0000639	HP:0000639	Nystagmus	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0000639	HP:0000639	Nystagmus	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0000639	HP:0000639	Nystagmus	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000639	HP:0000639	Nystagmus	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000639	HP:0000639	Nystagmus	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0000639	HP:0000639	Nystagmus	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0000639	HP:0000639	Nystagmus	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.		88
HP:0000639	HP:0000639	Nystagmus	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent		88
HP:0000639	HP:0000639	Nystagmus	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0000639	HP:0000639	Nystagmus	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000639	HP:0000639	Nystagmus	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent		2
HP:0000639	HP:0000639	Nystagmus	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.		2
HP:0000639	HP:0000639	Nystagmus	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		15
HP:0000639	HP:0000639	Nystagmus	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.		15
HP:0000639	HP:0000639	Nystagmus	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000639	HP:0000639	Nystagmus	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000639	HP:0000639	Nystagmus	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		85
HP:0000639	HP:0000639	Nystagmus	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.		85
HP:0000639	HP:0000639	Nystagmus	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		85
HP:0000639	HP:0000639	Nystagmus	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0000639	HP:0000639	Nystagmus	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000639	HP:0000639	Nystagmus	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000639	HP:0000639	Nystagmus	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare		37
HP:0000639	HP:0000639	Nystagmus	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0000639	HP:0000639	Nystagmus	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		102
HP:0000639	HP:0000639	Nystagmus	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000639	HP:0000639	Nystagmus	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0000639	HP:0000639	Nystagmus	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000639	HP:0000639	Nystagmus	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0000639	HP:0000639	Nystagmus	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000639	HP:0000639	Nystagmus	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0000639	HP:0000639	Nystagmus	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000639	HP:0000639	Nystagmus	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000639	HP:0000639	Nystagmus	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0000639	HP:0000639	Nystagmus	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.		15
HP:0000639	HP:0000639	Nystagmus	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000639	HP:0000639	Nystagmus	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0000639	HP:0000639	Nystagmus	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0000639	HP:0000639	Nystagmus	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0000639	HP:0000639	Nystagmus	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0000639	HP:0000639	Nystagmus	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000639	HP:0000639	Nystagmus	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0000639	HP:0000639	Nystagmus	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		42
HP:0000639	HP:0000639	Nystagmus	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000639	HP:0000639	Nystagmus	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000639	HP:0000639	Nystagmus	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0000639	HP:0000639	Nystagmus	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0000639	HP:0000639	Nystagmus	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0000639	HP:0000639	Nystagmus	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000639	HP:0000639	Nystagmus	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000639	HP:0000639	Nystagmus	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000639	HP:0000639	Nystagmus	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0000639	HP:0000639	Nystagmus	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0000639	HP:0000639	Nystagmus	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000639	HP:0000639	Nystagmus	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000639	HP:0000639	Nystagmus	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent		163
HP:0000639	HP:0000639	Nystagmus	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent		163
HP:0000639	HP:0000639	Nystagmus	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.		55
HP:0000639	HP:0000639	Nystagmus	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	HP:0040282 - Frequent		7
HP:0000639	HP:0000639	Nystagmus	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	HP:0040282 - Frequent		5
HP:0000639	HP:0000639	Nystagmus	0	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000639	HP:0000639	Nystagmus	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0000639	HP:0000639	Nystagmus	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000639	HP:0000639	Nystagmus	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		41
HP:0000639	HP:0000639	Nystagmus	0	OXR1 CL E G H	55074	15822	OMIM:213000	Cerebellar hypoplasia	.		1
HP:0000639	HP:0000639	Nystagmus	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000639	HP:0000639	Nystagmus	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0000639	HP:0000639	Nystagmus	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000639	HP:0000639	Nystagmus	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000639	HP:0000639	Nystagmus	0	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000639	HP:0000639	Nystagmus	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0000639	HP:0000639	Nystagmus	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000639	HP:0000639	Nystagmus	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040283 - Occasional		39
HP:0000639	HP:0000639	Nystagmus	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.		194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included			194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	ORPHA:2253	Foveal hypoplasia-presenile cataract syndrome	HP:0040281 - Very frequent		194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly	HP:0040283 - Occasional		194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		194
HP:0000639	HP:0000639	Nystagmus	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0000639	HP:0000639	Nystagmus	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000639	HP:0000639	Nystagmus	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0000639	HP:0000639	Nystagmus	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		11
HP:0000639	HP:0000639	Nystagmus	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0000639	HP:0000639	Nystagmus	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional		11
HP:0000639	HP:0000639	Nystagmus	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000639	HP:0000639	Nystagmus	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000639	HP:0000639	Nystagmus	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		126
HP:0000639	HP:0000639	Nystagmus	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000639	HP:0000639	Nystagmus	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000639	HP:0000639	Nystagmus	0	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.		80
HP:0000639	HP:0000639	Nystagmus	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000639	HP:0000639	Nystagmus	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000639	HP:0000639	Nystagmus	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	HP:0040283 - Occasional		14
HP:0000639	HP:0000639	Nystagmus	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4	HP:0040283 - Occasional		28
HP:0000639	HP:0000639	Nystagmus	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0000639	HP:0000639	Nystagmus	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.		52
HP:0000639	HP:0000639	Nystagmus	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		40
HP:0000639	HP:0000639	Nystagmus	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0000639	HP:0000639	Nystagmus	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000639	HP:0000639	Nystagmus	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		169
HP:0000639	HP:0000639	Nystagmus	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0000639	HP:0000639	Nystagmus	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000639	HP:0000639	Nystagmus	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0000639	HP:0000639	Nystagmus	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		75
HP:0000639	HP:0000639	Nystagmus	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0000639	HP:0000639	Nystagmus	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0000639	HP:0000639	Nystagmus	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0000639	HP:0000639	Nystagmus	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0000639	HP:0000639	Nystagmus	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B	.		4
HP:0000639	HP:0000639	Nystagmus	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		65
HP:0000639	HP:0000639	Nystagmus	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0000639	HP:0000639	Nystagmus	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0000639	HP:0000639	Nystagmus	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		66
HP:0000639	HP:0000639	Nystagmus	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0000639	HP:0000639	Nystagmus	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0000639	HP:0000639	Nystagmus	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		46
HP:0000639	HP:0000639	Nystagmus	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0000639	HP:0000639	Nystagmus	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0000639	HP:0000639	Nystagmus	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		59
HP:0000639	HP:0000639	Nystagmus	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0000639	HP:0000639	Nystagmus	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.		59
HP:0000639	HP:0000639	Nystagmus	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0000639	HP:0000639	Nystagmus	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		62
HP:0000639	HP:0000639	Nystagmus	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0000639	HP:0000639	Nystagmus	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0000639	HP:0000639	Nystagmus	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		82
HP:0000639	HP:0000639	Nystagmus	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0000639	HP:0000639	Nystagmus	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0000639	HP:0000639	Nystagmus	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0000639	HP:0000639	Nystagmus	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		106
HP:0000639	HP:0000639	Nystagmus	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0000639	HP:0000639	Nystagmus	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0000639	HP:0000639	Nystagmus	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0000639	HP:0000639	Nystagmus	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		47
HP:0000639	HP:0000639	Nystagmus	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0000639	HP:0000639	Nystagmus	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.		47
HP:0000639	HP:0000639	Nystagmus	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0000639	HP:0000639	Nystagmus	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		99
HP:0000639	HP:0000639	Nystagmus	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0000639	HP:0000639	Nystagmus	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0000639	HP:0000639	Nystagmus	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0000639	HP:0000639	Nystagmus	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0000639	HP:0000639	Nystagmus	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		98
HP:0000639	HP:0000639	Nystagmus	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0000639	HP:0000639	Nystagmus	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0000639	HP:0000639	Nystagmus	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0000639	HP:0000639	Nystagmus	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0000639	HP:0000639	Nystagmus	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040283 - Occasional		72
HP:0000639	HP:0000639	Nystagmus	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000639	HP:0000639	Nystagmus	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		2
HP:0000639	HP:0000639	Nystagmus	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040283 - Occasional		29
HP:0000639	HP:0000639	Nystagmus	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0000639	HP:0000639	Nystagmus	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.		37
HP:0000639	HP:0000639	Nystagmus	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0000639	HP:0000639	Nystagmus	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040283 - Occasional		45
HP:0000639	HP:0000639	Nystagmus	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0000639	HP:0000639	Nystagmus	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0000639	HP:0000639	Nystagmus	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000639	HP:0000639	Nystagmus	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0000639	HP:0000639	Nystagmus	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0000639	HP:0000639	Nystagmus	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040281 - Very frequent		37
HP:0000639	HP:0000639	Nystagmus	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0000639	HP:0000639	Nystagmus	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000639	HP:0000639	Nystagmus	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000639	HP:0000639	Nystagmus	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent		12
HP:0000639	HP:0000639	Nystagmus	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000639	HP:0000639	Nystagmus	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000639	HP:0000639	Nystagmus	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0000639	HP:0000639	Nystagmus	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0000639	HP:0000639	Nystagmus	0	PITX2 CL E G H	5308	9005	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		51
HP:0000639	HP:0000639	Nystagmus	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0000639	HP:0000639	Nystagmus	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0000639	HP:0000639	Nystagmus	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0000639	HP:0000639	Nystagmus	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000639	HP:0000639	Nystagmus	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000639	HP:0000639	Nystagmus	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.		2
HP:0000639	HP:0000639	Nystagmus	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0000639	HP:0000639	Nystagmus	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0000639	HP:0000639	Nystagmus	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000639	HP:0000639	Nystagmus	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0000639	HP:0000639	Nystagmus	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent		60
HP:0000639	HP:0000639	Nystagmus	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent		60
HP:0000639	HP:0000639	Nystagmus	0	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form	HP:0040281 - Very frequent		60
HP:0000639	HP:0000639	Nystagmus	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0000639	HP:0000639	Nystagmus	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040283 - Occasional		60
HP:0000639	HP:0000639	Nystagmus	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000639	HP:0000639	Nystagmus	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0000639	HP:0000639	Nystagmus	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	HP:0040283 - Occasional		79
HP:0000639	HP:0000639	Nystagmus	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		79
HP:0000639	HP:0000639	Nystagmus	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0000639	HP:0000639	Nystagmus	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	HP:0040283 - Occasional		7
HP:0000639	HP:0000639	Nystagmus	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		103
HP:0000639	HP:0000639	Nystagmus	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.		103
HP:0000639	HP:0000639	Nystagmus	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional		103
HP:0000639	HP:0000639	Nystagmus	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0000639	HP:0000639	Nystagmus	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0000639	HP:0000639	Nystagmus	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent		60
HP:0000639	HP:0000639	Nystagmus	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13	.		60
HP:0000639	HP:0000639	Nystagmus	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0000639	HP:0000639	Nystagmus	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0000639	HP:0000639	Nystagmus	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000639	HP:0000639	Nystagmus	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0000639	HP:0000639	Nystagmus	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0000639	HP:0000639	Nystagmus	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040283 - Occasional		138
HP:0000639	HP:0000639	Nystagmus	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0000639	HP:0000639	Nystagmus	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0000639	HP:0000639	Nystagmus	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional		138
HP:0000639	HP:0000639	Nystagmus	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040283 - Occasional		67
HP:0000639	HP:0000639	Nystagmus	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0000639	HP:0000639	Nystagmus	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000639	HP:0000639	Nystagmus	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0000639	HP:0000639	Nystagmus	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000639	HP:0000639	Nystagmus	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000639	HP:0000639	Nystagmus	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0000639	HP:0000639	Nystagmus	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000639	HP:0000639	Nystagmus	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000639	HP:0000639	Nystagmus	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000639	HP:0000639	Nystagmus	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000639	HP:0000639	Nystagmus	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000639	HP:0000639	Nystagmus	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000639	HP:0000639	Nystagmus	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0000639	HP:0000639	Nystagmus	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0000639	HP:0000639	Nystagmus	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000639	HP:0000639	Nystagmus	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000639	HP:0000639	Nystagmus	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000639	HP:0000639	Nystagmus	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.		83
HP:0000639	HP:0000639	Nystagmus	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0000639	HP:0000639	Nystagmus	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0000639	HP:0000639	Nystagmus	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0000639	HP:0000639	Nystagmus	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0000639	HP:0000639	Nystagmus	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000639	HP:0000639	Nystagmus	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000639	HP:0000639	Nystagmus	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		34
HP:0000639	HP:0000639	Nystagmus	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000639	HP:0000639	Nystagmus	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000639	HP:0000639	Nystagmus	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000639	HP:0000639	Nystagmus	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000639	HP:0000639	Nystagmus	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000639	HP:0000639	Nystagmus	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000639	HP:0000639	Nystagmus	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000639	HP:0000639	Nystagmus	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000639	HP:0000639	Nystagmus	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0000639	HP:0000639	Nystagmus	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0000639	HP:0000639	Nystagmus	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000639	HP:0000639	Nystagmus	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000639	HP:0000639	Nystagmus	0	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.		73
HP:0000639	HP:0000639	Nystagmus	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	HP:0040283 - Occasional		170
HP:0000639	HP:0000639	Nystagmus	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0000639	HP:0000639	Nystagmus	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000639	HP:0000639	Nystagmus	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000639	HP:0000639	Nystagmus	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		291
HP:0000639	HP:0000639	Nystagmus	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0000639	HP:0000639	Nystagmus	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	HP:0040283 - Occasional		11
HP:0000639	HP:0000639	Nystagmus	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000639	HP:0000639	Nystagmus	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000639	HP:0000639	Nystagmus	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0000639	HP:0000639	Nystagmus	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0000639	HP:0000639	Nystagmus	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000639	HP:0000639	Nystagmus	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000639	HP:0000639	Nystagmus	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		212
HP:0000639	HP:0000639	Nystagmus	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0000639	HP:0000639	Nystagmus	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000639	HP:0000639	Nystagmus	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000639	HP:0000639	Nystagmus	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		95
HP:0000639	HP:0000639	Nystagmus	0	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12	.		95
HP:0000639	HP:0000639	Nystagmus	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		45
HP:0000639	HP:0000639	Nystagmus	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000639	HP:0000639	Nystagmus	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional		445
HP:0000639	HP:0000639	Nystagmus	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000639	HP:0000639	Nystagmus	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0000639	HP:0000639	Nystagmus	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000639	HP:0000639	Nystagmus	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000639	HP:0000639	Nystagmus	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000639	HP:0000639	Nystagmus	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		107
HP:0000639	HP:0000639	Nystagmus	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000639	HP:0000639	Nystagmus	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000639	HP:0000639	Nystagmus	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000639	HP:0000639	Nystagmus	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		39
HP:0000639	HP:0000639	Nystagmus	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000639	HP:0000639	Nystagmus	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0000639	HP:0000639	Nystagmus	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0000639	HP:0000639	Nystagmus	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0000639	HP:0000639	Nystagmus	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.		60
HP:0000639	HP:0000639	Nystagmus	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional		37
HP:0000639	HP:0000639	Nystagmus	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		10
HP:0000639	HP:0000639	Nystagmus	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000639	HP:0000639	Nystagmus	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040282 - Frequent		15
HP:0000639	HP:0000639	Nystagmus	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000639	HP:0000639	Nystagmus	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000639	HP:0000639	Nystagmus	0	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040282 - Frequent		90
HP:0000639	HP:0000639	Nystagmus	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000639	HP:0000639	Nystagmus	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000639	HP:0000639	Nystagmus	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000639	HP:0000639	Nystagmus	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000639	HP:0000639	Nystagmus	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000639	HP:0000639	Nystagmus	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000639	HP:0000639	Nystagmus	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		129
HP:0000639	HP:0000639	Nystagmus	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000639	HP:0000639	Nystagmus	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000639	HP:0000639	Nystagmus	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.		129
HP:0000639	HP:0000639	Nystagmus	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000639	HP:0000639	Nystagmus	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000639	HP:0000639	Nystagmus	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1	.		200
HP:0000639	HP:0000639	Nystagmus	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000639	HP:0000639	Nystagmus	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		109
HP:0000639	HP:0000639	Nystagmus	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000639	HP:0000639	Nystagmus	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0000639	HP:0000639	Nystagmus	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		167
HP:0000639	HP:0000639	Nystagmus	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		167
HP:0000639	HP:0000639	Nystagmus	0	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency	.		18
HP:0000639	HP:0000639	Nystagmus	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000639	HP:0000639	Nystagmus	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040283 - Occasional		9
HP:0000639	HP:0000639	Nystagmus	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0000639	HP:0000639	Nystagmus	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0000639	HP:0000639	Nystagmus	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0000639	HP:0000639	Nystagmus	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		32
HP:0000639	HP:0000639	Nystagmus	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		32
HP:0000639	HP:0000639	Nystagmus	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000639	HP:0000639	Nystagmus	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000639	HP:0000639	Nystagmus	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional		86
HP:0000639	HP:0000639	Nystagmus	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000639	HP:0000639	Nystagmus	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.		4
HP:0000639	HP:0000639	Nystagmus	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000639	HP:0000639	Nystagmus	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0000639	HP:0000639	Nystagmus	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0000639	HP:0000639	Nystagmus	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000639	HP:0000639	Nystagmus	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000639	HP:0000639	Nystagmus	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0000639	HP:0000639	Nystagmus	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000639	HP:0000639	Nystagmus	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0000639	HP:0000639	Nystagmus	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0000639	HP:0000639	Nystagmus	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0000639	HP:0000639	Nystagmus	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0000639	HP:0000639	Nystagmus	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		61
HP:0000639	HP:0000639	Nystagmus	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0000639	HP:0000639	Nystagmus	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0000639	HP:0000639	Nystagmus	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0000639	HP:0000639	Nystagmus	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000639	HP:0000639	Nystagmus	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0000639	HP:0000639	Nystagmus	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0000639	HP:0000639	Nystagmus	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0000639	HP:0000639	Nystagmus	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000639	HP:0000639	Nystagmus	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0000639	HP:0000639	Nystagmus	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0000639	HP:0000639	Nystagmus	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000639	HP:0000639	Nystagmus	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.		28
HP:0000639	HP:0000639	Nystagmus	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0000639	HP:0000639	Nystagmus	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0000639	HP:0000639	Nystagmus	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0000639	HP:0000639	Nystagmus	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0000639	HP:0000639	Nystagmus	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0000639	HP:0000639	Nystagmus	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0000639	HP:0000639	Nystagmus	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		67
HP:0000639	HP:0000639	Nystagmus	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0000639	HP:0000639	Nystagmus	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0000639	HP:0000639	Nystagmus	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000639	HP:0000639	Nystagmus	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	.		20
HP:0000639	HP:0000639	Nystagmus	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000639	HP:0000639	Nystagmus	0	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome	HP:0040283 - Occasional		163
HP:0000639	HP:0000639	Nystagmus	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0000639	HP:0000639	Nystagmus	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0000639	HP:0000639	Nystagmus	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000639	HP:0000639	Nystagmus	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0000639	HP:0000639	Nystagmus	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0000639	HP:0000639	Nystagmus	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0000639	HP:0000639	Nystagmus	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000639	HP:0000639	Nystagmus	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0000639	HP:0000639	Nystagmus	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0000639	HP:0000639	Nystagmus	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	.		110
HP:0000639	HP:0000639	Nystagmus	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000639	HP:0000639	Nystagmus	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0000639	HP:0000639	Nystagmus	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000639	HP:0000639	Nystagmus	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	HP:0040283 - Occasional		63
HP:0000639	HP:0000639	Nystagmus	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		66
HP:0000639	HP:0000639	Nystagmus	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.		12
HP:0000639	HP:0000639	Nystagmus	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent		12
HP:0000639	HP:0000639	Nystagmus	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0000639	HP:0000639	Nystagmus	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional		40
HP:0000639	HP:0000639	Nystagmus	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		68
HP:0000639	HP:0000639	Nystagmus	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000639	HP:0000639	Nystagmus	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000639	HP:0000639	Nystagmus	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0000639	HP:0000639	Nystagmus	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional		255
HP:0000639	HP:0000639	Nystagmus	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0000639	HP:0000639	Nystagmus	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.		48
HP:0000639	HP:0000639	Nystagmus	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0000639	HP:0000639	Nystagmus	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm	.		27
HP:0000639	HP:0000639	Nystagmus	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.		13
HP:0000639	HP:0000639	Nystagmus	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0000639	HP:0000639	Nystagmus	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0000639	HP:0000639	Nystagmus	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000639	HP:0000639	Nystagmus	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040281 - Very frequent		42
HP:0000639	HP:0000639	Nystagmus	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040283 - Occasional		66
HP:0000639	HP:0000639	Nystagmus	0	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome	HP:0040282 - Frequent		66
HP:0000639	HP:0000639	Nystagmus	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0000639	HP:0000639	Nystagmus	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0000639	HP:0000639	Nystagmus	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0000639	HP:0000639	Nystagmus	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent		12
HP:0000639	HP:0000639	Nystagmus	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000639	HP:0000639	Nystagmus	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000639	HP:0000639	Nystagmus	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0000639	HP:0000639	Nystagmus	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000639	HP:0000639	Nystagmus	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0000639	HP:0000639	Nystagmus	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0000639	HP:0000639	Nystagmus	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0000639	HP:0000639	Nystagmus	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000639	HP:0000639	Nystagmus	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0000639	HP:0000639	Nystagmus	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000639	HP:0000639	Nystagmus	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000639	HP:0000639	Nystagmus	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0000639	HP:0000639	Nystagmus	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0000639	HP:0000639	Nystagmus	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	HP:0040283 - Occasional		14
HP:0000639	HP:0000639	Nystagmus	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000639	HP:0000639	Nystagmus	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		315
HP:0000639	HP:0000639	Nystagmus	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		30
HP:0000639	HP:0000639	Nystagmus	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0000639	HP:0000639	Nystagmus	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0000639	HP:0000639	Nystagmus	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000639	HP:0000639	Nystagmus	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent		61
HP:0000639	HP:0000639	Nystagmus	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000639	HP:0000639	Nystagmus	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		33
HP:0000639	HP:0000639	Nystagmus	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		24
HP:0000639	HP:0000639	Nystagmus	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0000639	HP:0000639	Nystagmus	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0000639	HP:0000639	Nystagmus	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional		19
HP:0000639	HP:0000639	Nystagmus	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		48
HP:0000639	HP:0000639	Nystagmus	0	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000639	HP:0000639	Nystagmus	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000639	HP:0000639	Nystagmus	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000639	HP:0000639	Nystagmus	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000639	HP:0000639	Nystagmus	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent		287
HP:0000639	HP:0000639	Nystagmus	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0000639	HP:0000639	Nystagmus	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0000639	HP:0000639	Nystagmus	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000639	HP:0000639	Nystagmus	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent		171
HP:0000639	HP:0000639	Nystagmus	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0000639	HP:0000639	Nystagmus	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		126
HP:0000639	HP:0000639	Nystagmus	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0000639	HP:0000639	Nystagmus	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	HP:0040283 - Occasional		126
HP:0000639	HP:0000639	Nystagmus	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000639	HP:0000639	Nystagmus	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0000639	HP:0000639	Nystagmus	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0000639	HP:0000639	Nystagmus	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.		80
HP:0000639	HP:0000639	Nystagmus	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040282 - Frequent		80
HP:0000639	HP:0000639	Nystagmus	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0000639	HP:0000639	Nystagmus	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0000639	HP:0000639	Nystagmus	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000639	HP:0000639	Nystagmus	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0000639	HP:0000639	Nystagmus	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0000639	HP:0000639	Nystagmus	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent		86
HP:0000639	HP:0000639	Nystagmus	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000639	HP:0000639	Nystagmus	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		124
HP:0000639	HP:0000639	Nystagmus	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	HP:0040284 - Very rare		124
HP:0000639	HP:0000639	Nystagmus	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000639	HP:0000639	Nystagmus	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0000639	HP:0000639	Nystagmus	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0000639	HP:0000639	Nystagmus	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.		1129
HP:0000639	HP:0000639	Nystagmus	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0000639	HP:0000639	Nystagmus	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0000639	HP:0000639	Nystagmus	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0000639	HP:0000639	Nystagmus	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040282 - Frequent		4
HP:0000639	HP:0000639	Nystagmus	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	HP:0040283 - Occasional		4
HP:0000639	HP:0000639	Nystagmus	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0000639	HP:0000639	Nystagmus	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0000639	HP:0000639	Nystagmus	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0000639	HP:0000639	Nystagmus	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000639	HP:0000639	Nystagmus	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000639	HP:0000639	Nystagmus	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	HP:0040283 - Occasional		7
HP:0000639	HP:0000639	Nystagmus	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0000639	HP:0000639	Nystagmus	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000639	HP:0000639	Nystagmus	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000639	HP:0000639	Nystagmus	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040282 - Frequent		43
HP:0000639	HP:0000639	Nystagmus	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000639	HP:0000639	Nystagmus	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp			271
HP:0000639	HP:0000639	Nystagmus	0	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome			271
HP:0000639	HP:0000639	Nystagmus	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000639	HP:0000639	Nystagmus	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0000639	HP:0000639	Nystagmus	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000639	HP:0000639	Nystagmus	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000639	HP:0000639	Nystagmus	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0000639	HP:0000639	Nystagmus	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0000639	HP:0000639	Nystagmus	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0000639	HP:0000639	Nystagmus	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.		82
HP:0000639	HP:0000639	Nystagmus	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		45
HP:0000639	HP:0000639	Nystagmus	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		76
HP:0000639	HP:0000639	Nystagmus	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.		76
HP:0000639	HP:0000639	Nystagmus	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0000639	HP:0000639	Nystagmus	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0000639	HP:0000639	Nystagmus	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000639	HP:0000639	Nystagmus	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000639	HP:0000639	Nystagmus	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000639	HP:0000639	Nystagmus	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000639	HP:0000639	Nystagmus	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000639	HP:0000639	Nystagmus	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000639	HP:0000639	Nystagmus	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional		5
HP:0000639	HP:0000639	Nystagmus	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000639	HP:0000639	Nystagmus	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000639	HP:0000639	Nystagmus	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0000639	HP:0000639	Nystagmus	0	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent
HP:0000639	HP:0000639	Nystagmus	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0000639	HP:0000639	Nystagmus	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000639	HP:0000639	Nystagmus	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0000639	HP:0000639	Nystagmus	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0000639	HP:0000639	Nystagmus	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000639	HP:0000639	Nystagmus	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0000639	HP:0000639	Nystagmus	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0000639	HP:0000639	Nystagmus	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0000639	HP:0000639	Nystagmus	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000639	HP:0000639	Nystagmus	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		82
HP:0000639	HP:0000639	Nystagmus	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0000639	HP:0000639	Nystagmus	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0000639	HP:0000639	Nystagmus	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		82
HP:0000639	HP:0000639	Nystagmus	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000639	HP:0000639	Nystagmus	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent		9
HP:0000639	HP:0000639	Nystagmus	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000639	HP:0000639	Nystagmus	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0000639	HP:0000639	Nystagmus	0	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0000639	HP:0000639	Nystagmus	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0000639	HP:0000639	Nystagmus	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		166
HP:0000639	HP:0000639	Nystagmus	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		166
HP:0000639	HP:0000639	Nystagmus	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000639	HP:0000639	Nystagmus	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0000639	HP:0000639	Nystagmus	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000639	HP:0000639	Nystagmus	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0000639	HP:0000639	Nystagmus	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0000639	HP:0000639	Nystagmus	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional		6
HP:0000639	HP:0000639	Nystagmus	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0000639	HP:0000639	Nystagmus	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0000639	HP:0000639	Nystagmus	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000639	HP:0000639	Nystagmus	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000639	HP:0000639	Nystagmus	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0000639	HP:0000639	Nystagmus	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.		203
HP:0000639	HP:0000639	Nystagmus	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.		6
HP:0000639	HP:0000639	Nystagmus	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0000639	HP:0000639	Nystagmus	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0000639	HP:0000639	Nystagmus	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0000639	HP:0000639	Nystagmus	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		108
HP:0000639	HP:0000639	Nystagmus	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		1
HP:0000639	HP:0000639	Nystagmus	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000639	HP:0000639	Nystagmus	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		104
HP:0000639	HP:0000639	Nystagmus	0	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000639	HP:0000639	Nystagmus	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000639	HP:0000639	Nystagmus	0	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11	.		57
HP:0000639	HP:0000639	Nystagmus	0	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11			57
HP:0000639	HP:0000639	Nystagmus	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0000639	HP:0000639	Nystagmus	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		41
HP:0000639	HP:0000639	Nystagmus	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000639	HP:0000639	Nystagmus	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040282 - Frequent		62
HP:0000639	HP:0000639	Nystagmus	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0000639	HP:0000639	Nystagmus	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000639	HP:0000639	Nystagmus	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0000639	HP:0000639	Nystagmus	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0000639	HP:0000639	Nystagmus	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.		64
HP:0000639	HP:0000639	Nystagmus	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	HP:0040283 - Occasional		66
HP:0000639	HP:0000639	Nystagmus	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000639	HP:0000639	Nystagmus	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0000639	HP:0000639	Nystagmus	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.		14
HP:0000639	HP:0000639	Nystagmus	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0000639	HP:0000639	Nystagmus	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	HP:0040283 - Occasional		61
HP:0000639	HP:0000639	Nystagmus	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0000639	HP:0000639	Nystagmus	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		66
HP:0000639	HP:0000639	Nystagmus	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.	HP:0003577 - Congenital onset	66
HP:0000639	HP:0000639	Nystagmus	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000639	HP:0000639	Nystagmus	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000639	HP:0000639	Nystagmus	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0000639	HP:0000639	Nystagmus	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.		113
HP:0000639	HP:0000639	Nystagmus	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0000639	HP:0000639	Nystagmus	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0000639	HP:0000639	Nystagmus	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000639	HP:0000639	Nystagmus	0	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB	.		146
HP:0000639	HP:0000639	Nystagmus	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent		146
HP:0000639	HP:0000639	Nystagmus	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent		146
HP:0000639	HP:0000639	Nystagmus	0	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III	.		62
HP:0000639	HP:0000639	Nystagmus	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040282 - Frequent		62
HP:0000639	HP:0000639	Nystagmus	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0000639	HP:0000639	Nystagmus	0	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	.		13
HP:0000639	HP:0000639	Nystagmus	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0000639	HP:0000639	Nystagmus	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000639	HP:0000639	Nystagmus	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000639	HP:0000639	Nystagmus	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0000639	HP:0000639	Nystagmus	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0000639	HP:0000639	Nystagmus	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000639	HP:0000639	Nystagmus	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0000639	HP:0000639	Nystagmus	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0000639	HP:0000639	Nystagmus	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency	HP:0040283 - Occasional		8
HP:0000639	HP:0000639	Nystagmus	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0000639	HP:0000639	Nystagmus	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000639	HP:0000639	Nystagmus	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000639	HP:0000639	Nystagmus	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		777
HP:0000639	HP:0000639	Nystagmus	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0000639	HP:0000639	Nystagmus	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000639	HP:0000639	Nystagmus	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent		7
HP:0000639	HP:0000639	Nystagmus	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000639	HP:0000639	Nystagmus	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0000639	HP:0000639	Nystagmus	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0000639	HP:0000639	Nystagmus	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0000639	HP:0000639	Nystagmus	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0000639	HP:0000639	Nystagmus	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000639	HP:0000639	Nystagmus	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000639	HP:0000639	Nystagmus	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000639	HP:0000639	Nystagmus	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000639	HP:0000639	Nystagmus	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22	.		1
HP:0000639	HP:0000639	Nystagmus	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0000639	HP:0000639	Nystagmus	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		60
HP:0000639	HP:0000639	Nystagmus	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0000639	HP:0000639	Nystagmus	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		95
HP:0000639	HP:0000639	Nystagmus	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		136
HP:0000639	HP:0000639	Nystagmus	0	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V	.		51
HP:0000639	HP:0000639	Nystagmus	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent		1
HP:0000639	HP:0000639	Nystagmus	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0000639	HP:0000639	Nystagmus	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		389
HP:0000639	HP:0000639	Nystagmus	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0000639	HP:0000639	Nystagmus	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		155
HP:0000639	HP:0000639	Nystagmus	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000639	HP:0000639	Nystagmus	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0000639	HP:0000639	Nystagmus	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040281 - Very frequent		149
HP:0000639	HP:0000639	Nystagmus	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0000639	HP:0000639	Nystagmus	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0000639	HP:0000639	Nystagmus	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.		4
HP:0000639	HP:0000639	Nystagmus	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000639	HP:0000639	Nystagmus	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0000639	HP:0000639	Nystagmus	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0000639	HP:0000639	Nystagmus	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0000639	HP:0000639	Nystagmus	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040283 - Occasional		2
HP:0000639	HP:0000639	Nystagmus	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000639	HP:0000639	Nystagmus	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0000639	HP:0000639	Nystagmus	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000639	HP:0000639	Nystagmus	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0000639	HP:0000639	Nystagmus	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0000639	HP:0000639	Nystagmus	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000639	HP:0000639	Nystagmus	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000639	HP:0000639	Nystagmus	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0000639	HP:0000639	Nystagmus	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000639	HP:0000639	Nystagmus	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000639	HP:0001583	Rotary nystagmus	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000639	HP:0012043	Pendular nystagmus	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000639	HP:0006934	Congenital nystagmus	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000639	HP:0000666	Horizontal nystagmus	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000639	HP:0025711	Convergence-retraction nystagmus	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.		86
HP:0000639	HP:0010544	Vertical nystagmus	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000639	HP:0000666	Horizontal nystagmus	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040283 - Occasional		60
HP:0000639	HP:0012043	Pendular nystagmus	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000639	HP:0000666	Horizontal nystagmus	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0000639	HP:0000666	Horizontal nystagmus	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0000639	HP:0000666	Horizontal nystagmus	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000639	HP:0001583	Rotary nystagmus	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000639	HP:0010544	Vertical nystagmus	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000639	HP:0010544	Vertical nystagmus	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000639	HP:0000666	Horizontal nystagmus	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		64
HP:0000639	HP:0000666	Horizontal nystagmus	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000639	HP:0006934	Congenital nystagmus	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000639	HP:0012043	Pendular nystagmus	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000639	HP:0000666	Horizontal nystagmus	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000639	HP:0000666	Horizontal nystagmus	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000639	HP:0012043	Pendular nystagmus	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		10
HP:0000639	HP:0000666	Horizontal nystagmus	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0000639	HP:0012043	Pendular nystagmus	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.		4
HP:0000639	HP:0000666	Horizontal nystagmus	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent		100
HP:0000639	HP:0012043	Pendular nystagmus	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000639	HP:0000666	Horizontal nystagmus	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000639	HP:0010544	Vertical nystagmus	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0000639	HP:0012043	Pendular nystagmus	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000639	HP:0006934	Congenital nystagmus	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000639	HP:0000666	Horizontal nystagmus	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000639	HP:0006934	Congenital nystagmus	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		5
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent		9
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000666	Horizontal nystagmus	1	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000639	HP:0000666	Horizontal nystagmus	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0000639	HP:0010544	Vertical nystagmus	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000639	HP:0010544	Vertical nystagmus	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000639	HP:0012043	Pendular nystagmus	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000639	HP:0000666	Horizontal nystagmus	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.		449
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0000639	HP:0000666	Horizontal nystagmus	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0000639	HP:0010544	Vertical nystagmus	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent		449
HP:0000639	HP:0000666	Horizontal nystagmus	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000639	HP:0000666	Horizontal nystagmus	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5	HP:0040282 - Frequent		146
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.		146
HP:0000639	HP:0012043	Pendular nystagmus	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0001583	Rotary nystagmus	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000639	HP:0012043	Pendular nystagmus	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0000639	HP:0012043	Pendular nystagmus	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		82
HP:0000639	HP:0012043	Pendular nystagmus	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000639	HP:0012043	Pendular nystagmus	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		194
HP:0000639	HP:0006934	Congenital nystagmus	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000639	HP:0012043	Pendular nystagmus	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000639	HP:0000666	Horizontal nystagmus	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000639	HP:0012043	Pendular nystagmus	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000639	HP:0000666	Horizontal nystagmus	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.		54
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0000639	HP:0010544	Vertical nystagmus	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040283 - Occasional		54
HP:0000639	HP:0000666	Horizontal nystagmus	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000639	HP:0012043	Pendular nystagmus	1	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.		158
HP:0000639	HP:0000666	Horizontal nystagmus	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0000639	HP:0000666	Horizontal nystagmus	1	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent		4
HP:0000639	HP:0012043	Pendular nystagmus	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000666	Horizontal nystagmus	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0000639	HP:0012043	Pendular nystagmus	1	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48	.
HP:0000639	HP:0000666	Horizontal nystagmus	1	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040283 - Occasional		18
HP:0000639	HP:0010544	Vertical nystagmus	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0000639	HP:0001583	Rotary nystagmus	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000639	HP:0001583	Rotary nystagmus	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0000639	HP:0000666	Horizontal nystagmus	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0000639	HP:0000666	Horizontal nystagmus	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000639	HP:0006934	Congenital nystagmus	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000639	HP:0000666	Horizontal nystagmus	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000639	HP:0000666	Horizontal nystagmus	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0000639	HP:0000666	Horizontal nystagmus	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0000639	HP:0010544	Vertical nystagmus	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040281 - Very frequent		47
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0006934	Congenital nystagmus	1	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000639	HP:0012043	Pendular nystagmus	1	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000639	HP:0000666	Horizontal nystagmus	1	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000639	HP:0000666	Horizontal nystagmus	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000639	HP:0000666	Horizontal nystagmus	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0000639	HP:0000666	Horizontal nystagmus	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		86
HP:0000639	HP:0000666	Horizontal nystagmus	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000639	HP:0012043	Pendular nystagmus	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000639	HP:0001583	Rotary nystagmus	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent		14
HP:0000639	HP:0001583	Rotary nystagmus	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0000639	HP:0000666	Horizontal nystagmus	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000639	HP:0012043	Pendular nystagmus	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		19
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.		64
HP:0000639	HP:0000666	Horizontal nystagmus	1	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked	.		64
HP:0000639	HP:0000666	Horizontal nystagmus	1	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	HP:0040282 - Frequent		18
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	HP:0040282 - Frequent		18
HP:0000639	HP:0000666	Horizontal nystagmus	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000639	HP:0006934	Congenital nystagmus	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000639	HP:0000666	Horizontal nystagmus	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000639	HP:0000666	Horizontal nystagmus	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000639	HP:0000666	Horizontal nystagmus	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0000666	Horizontal nystagmus	1	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0000639	HP:0012043	Pendular nystagmus	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0000639	HP:0000666	Horizontal nystagmus	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000639	HP:0006934	Congenital nystagmus	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000639	HP:0006934	Congenital nystagmus	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000639	HP:0000666	Horizontal nystagmus	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000639	HP:0000666	Horizontal nystagmus	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.		123
HP:0000639	HP:0000666	Horizontal nystagmus	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.		105
HP:0000639	HP:0000666	Horizontal nystagmus	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000639	HP:0000666	Horizontal nystagmus	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000639	HP:0000666	Horizontal nystagmus	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		1
HP:0000639	HP:0000666	Horizontal nystagmus	1	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:0000639	HP:0000640	Gaze-evoked nystagmus	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000639	HP:0000666	Horizontal nystagmus	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000639	HP:0000666	Horizontal nystagmus	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000639	HP:0000666	Horizontal nystagmus	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000639	HP:0001583	Rotary nystagmus	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000639	HP:0000666	Horizontal nystagmus	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.		73
HP:0000639	HP:0000666	Horizontal nystagmus	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent		38
HP:0000639	HP:0000666	Horizontal nystagmus	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.		38
HP:0000639	HP:0006934	Congenital nystagmus	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		110
HP:0000639	HP:0006934	Congenital nystagmus	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		173
HP:0000639	HP:0000666	Horizontal nystagmus	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000666	Horizontal nystagmus	1	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040283 - Occasional		44
HP:0000639	HP:0000666	Horizontal nystagmus	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000639	HP:0012043	Pendular nystagmus	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000639	HP:0006934	Congenital nystagmus	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000639	HP:0006934	Congenital nystagmus	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0000639	HP:0000666	Horizontal nystagmus	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0000639	HP:0001583	Rotary nystagmus	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0000639	HP:0000666	Horizontal nystagmus	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000639	HP:0000666	Horizontal nystagmus	1	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent		25
HP:0000639	HP:0000666	Horizontal nystagmus	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.		25
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0001583	Rotary nystagmus	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000639	HP:0001583	Rotary nystagmus	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional		6
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0000639	HP:0010544	Vertical nystagmus	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0000639	HP:0000666	Horizontal nystagmus	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0000639	HP:0010544	Vertical nystagmus	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0000639	HP:0000666	Horizontal nystagmus	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0000639	HP:0000666	Horizontal nystagmus	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000639	HP:0001583	Rotary nystagmus	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0000639	HP:0000666	Horizontal nystagmus	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		27
HP:0000639	HP:0000666	Horizontal nystagmus	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000639	HP:0012043	Pendular nystagmus	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040282 - Frequent		15
HP:0000639	HP:0000666	Horizontal nystagmus	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000639	HP:0006934	Congenital nystagmus	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000639	HP:0012043	Pendular nystagmus	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000639	HP:0012043	Pendular nystagmus	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.		7
HP:0000639	HP:0000666	Horizontal nystagmus	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000639	HP:0000666	Horizontal nystagmus	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000639	HP:0012043	Pendular nystagmus	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0000639	HP:0012043	Pendular nystagmus	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0000639	HP:0012043	Pendular nystagmus	1	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040283 - Occasional		3
HP:0000639	HP:0012043	Pendular nystagmus	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000639	HP:0006934	Congenital nystagmus	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040283 - Occasional		194
HP:0000639	HP:0006934	Congenital nystagmus	1	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.		194
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000639	HP:0000666	Horizontal nystagmus	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000639	HP:0012043	Pendular nystagmus	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		80
HP:0000639	HP:0012043	Pendular nystagmus	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		14
HP:0000639	HP:0000666	Horizontal nystagmus	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4			28
HP:0000639	HP:0000666	Horizontal nystagmus	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000639	HP:0010544	Vertical nystagmus	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000639	HP:0000666	Horizontal nystagmus	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0000639	HP:0000666	Horizontal nystagmus	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0000639	HP:0010544	Vertical nystagmus	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0000639	HP:0030691	Divergence nystagmus	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000639	HP:0006934	Congenital nystagmus	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000639	HP:0010544	Vertical nystagmus	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000639	HP:0010544	Vertical nystagmus	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		11
HP:0000639	HP:0012043	Pendular nystagmus	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0000639	HP:0010544	Vertical nystagmus	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000639	HP:0001583	Rotary nystagmus	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.		60
HP:0000639	HP:0000666	Horizontal nystagmus	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0000639	HP:0012043	Pendular nystagmus	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent		60
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent		7
HP:0000639	HP:0001583	Rotary nystagmus	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0000639	HP:0000666	Horizontal nystagmus	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0000639	HP:0001583	Rotary nystagmus	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000639	HP:0001583	Rotary nystagmus	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional		83
HP:0000639	HP:0010542	Vestibular nystagmus	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional		69
HP:0000639	HP:0000666	Horizontal nystagmus	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000639	HP:0012043	Pendular nystagmus	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000639	HP:0010544	Vertical nystagmus	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0000639	HP:0000666	Horizontal nystagmus	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000639	HP:0000666	Horizontal nystagmus	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000639	HP:0010544	Vertical nystagmus	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0012043	Pendular nystagmus	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		200
HP:0000639	HP:0012043	Pendular nystagmus	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0000639	HP:0000666	Horizontal nystagmus	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000639	HP:0012043	Pendular nystagmus	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000639	HP:0000666	Horizontal nystagmus	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000639	HP:0010544	Vertical nystagmus	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0000639	HP:0012043	Pendular nystagmus	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional		357
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000639	HP:0012043	Pendular nystagmus	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		162
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.		162
HP:0000639	HP:0000666	Horizontal nystagmus	1	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	.		20
HP:0000639	HP:0001583	Rotary nystagmus	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040283 - Occasional		63
HP:0000639	HP:0000666	Horizontal nystagmus	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0000639	HP:0000666	Horizontal nystagmus	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0000639	HP:0000666	Horizontal nystagmus	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		126
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.		126
HP:0000639	HP:0000666	Horizontal nystagmus	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0000639	HP:0000666	Horizontal nystagmus	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000666	Horizontal nystagmus	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000639	HP:0000666	Horizontal nystagmus	1	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0000639	HP:0000666	Horizontal nystagmus	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040283 - Occasional		7
HP:0000639	HP:0006934	Congenital nystagmus	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		271
HP:0000639	HP:0000666	Horizontal nystagmus	1	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.		271
HP:0000639	HP:0000666	Horizontal nystagmus	1	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	HP:0040282 - Frequent		271
HP:0000639	HP:0012043	Pendular nystagmus	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0000639	HP:0012043	Pendular nystagmus	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.		22
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent		52
HP:0000639	HP:0001583	Rotary nystagmus	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0000639	HP:0012043	Pendular nystagmus	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000639	HP:0000666	Horizontal nystagmus	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000639	HP:0000666	Horizontal nystagmus	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000639	HP:0001583	Rotary nystagmus	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000639	HP:0010544	Vertical nystagmus	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000639	HP:0012043	Pendular nystagmus	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000639	HP:0006934	Congenital nystagmus	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000639	HP:0000666	Horizontal nystagmus	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	HP:0040283 - Occasional		23
HP:0000639	HP:0001583	Rotary nystagmus	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000639	HP:0012043	Pendular nystagmus	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0012043	Pendular nystagmus	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000639	HP:0000666	Horizontal nystagmus	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0000639	HP:0000666	Horizontal nystagmus	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000639	HP:0000666	Horizontal nystagmus	1	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent		57
HP:0000639	HP:0010544	Vertical nystagmus	1	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent		57
HP:0000639	HP:0006934	Congenital nystagmus	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	HP:0040284 - Very rare
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000639	HP:0000666	Horizontal nystagmus	1	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0000639	HP:0001361	Nystagmus-induced head nodding	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000639	HP:0000640	Gaze-evoked nystagmus	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.		149
HP:0000639	HP:0000666	Horizontal nystagmus	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0000639	HP:0007747	Monocular horizontal nystagmus	2	CL E G H
HP:0000639	HP:0007286	Horizontal jerk nystagmus	2	CL E G H
HP:0000639	HP:0008026	Horizontal opticokinetic nystagmus	2	CL E G H
HP:0000639	HP:0007811	Horizontal pendular nystagmus	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0000639	HP:0011477	Upbeat nystagmus	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0000639	HP:0010545	Downbeat nystagmus	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0000639	HP:0007811	Horizontal pendular nystagmus	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000639	HP:0012044	Seesaw nystagmus	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0000639	HP:0007811	Horizontal pendular nystagmus	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	HP:0040282 - Frequent		1
HP:0000639	HP:0010545	Downbeat nystagmus	2	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0000639	HP:0012044	Seesaw nystagmus	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent		449
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent		32
HP:0000639	HP:0012044	Seesaw nystagmus	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0000639	HP:0007811	Horizontal pendular nystagmus	2	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0000639	HP:0010545	Downbeat nystagmus	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0000639	HP:0011477	Upbeat nystagmus	2	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000639	HP:0007859	Congenital horizontal nystagmus	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040283 - Occasional		8
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.		177
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.		35
HP:0000639	HP:0007811	Horizontal pendular nystagmus	2	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0000639	HP:0007811	Horizontal pendular nystagmus	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000639	HP:0010545	Downbeat nystagmus	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare		133
HP:0000639	HP:0012044	Seesaw nystagmus	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000639	HP:0010545	Downbeat nystagmus	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0000639	HP:0010533	Spasmus nutans	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0000639	HP:0012044	Seesaw nystagmus	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional		24
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040282 - Frequent		4
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000639	HP:0007811	Horizontal pendular nystagmus	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000639	HP:0012044	Seesaw nystagmus	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040283 - Occasional		33
HP:0000639	HP:0007979	Gaze-evoked horizontal nystagmus	2	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent		8