Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006934	HP:0006934	Congenital nystagmus	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0006934	HP:0006934	Congenital nystagmus	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0006934	HP:0006934	Congenital nystagmus	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0006934	HP:0006934	Congenital nystagmus	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0006934	HP:0006934	Congenital nystagmus	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3		194
HP:0006934	HP:0006934	Congenital nystagmus	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0006934	HP:0006934	Congenital nystagmus	0	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.	38
HP:0006934	HP:0006934	Congenital 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:0006934	HP:0006934	Congenital nystagmus	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0006934	HP:0006934	Congenital nystagmus	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3		67
HP:0006934	HP:0006934	Congenital nystagmus	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	110
HP:0006934	HP:0006934	Congenital nystagmus	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	173
HP:0006934	HP:0006934	Congenital nystagmus	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4		125
HP:0006934	HP:0006934	Congenital nystagmus	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional	125
HP:0006934	HP:0006934	Congenital nystagmus	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0006934	HP:0006934	Congenital nystagmus	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040283 - Occasional	194
HP:0006934	HP:0006934	Congenital nystagmus	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.	194
HP:0006934	HP:0006934	Congenital nystagmus	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0006934	HP:0006934	Congenital nystagmus	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0006934	HP:0006934	Congenital nystagmus	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0006934	HP:0006934	Congenital nystagmus	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.	66
HP:0006934	HP:0007811	Horizontal pendular nystagmus	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0006934	HP:0007811	Horizontal pendular nystagmus	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0006934	HP:0007811	Horizontal pendular nystagmus	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0006934	HP:0007811	Horizontal pendular nystagmus	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0006934	HP:0007859	Congenital 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:0006934	HP:0007811	Horizontal pendular nystagmus	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0006934	HP:0007811	Horizontal pendular nystagmus	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0006934	HP:0007811	Horizontal pendular nystagmus	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16