Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal involuntary eye movements (HP:0012547)

Parent Node:
Nystagmus (HP:0000639)

..Starting node
..Gaze-evoked nystagmus (HP:0000640)

Term ID:

640

Name:

Gaze-evoked nystagmus

Synonym:

Definition:

Nystagmus made apparent by looking to the right or to the left.

Comments:

Reference:

HP:0000640

Genes and Diseases:

Child Nodes:

........

Gaze-evoked horizontal nystagmus (HP:0007979)

Sister Nodes:

Congenital nystagmus (HP:0006934)

Divergence nystagmus (HP:0030691)

Horizontal nystagmus (HP:0000666)

Nystagmus-induced head nodding (HP:0001361)

Pendular nystagmus (HP:0012043)

Rotary nystagmus (HP:0001583)

Vertical nystagmus (HP:0010544)

Vestibular nystagmus (HP:0010542)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	2689	1388	601011
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	CACNB4 CL E G H	785	211067				ORPHA	1	312	1404	601949
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	CACNB4 CL E G H	785	613855	Episodic ataxia, type 5	613855	C1866039	OMIM	1	312	1404	601949
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	COQ2 CL E G H	27235	227510				ORPHA	1	205	25223	609825
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	FGF14 CL E G H	2259	98764				ORPHA	1	208	3671	601515
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	GRID2 CL E G H	2895	363432				ORPHA	1	158	4576	602368
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	PIK3R5 CL E G H	23533	64753				ORPHA	1	48	30035	611317
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	SETX CL E G H	23064	64753				ORPHA	1	1290	445	608465
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	1	1290	445	608465
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2165	11226	610844
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	716	11276	604985
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	116	11588	600075
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	TDP1 CL E G H	55775	94124				ORPHA	1	208	18884	607198
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	507	12698	192977
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	1	967	12799	605131
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	2689	1388	601011
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	CACNB4 CL E G H	785	211067				ORPHA	1	312	1404	601949
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	CACNB4 CL E G H	785	613855	Episodic ataxia, type 5	613855	C1866039	OMIM	1	312	1404	601949
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	COQ2 CL E G H	27235	227510				ORPHA	1	205	25223	609825
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	FGF14 CL E G H	2259	98764				ORPHA	1	208	3671	601515
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	GRID2 CL E G H	2895	363432				ORPHA	1	158	4576	602368
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	PIK3R5 CL E G H	23533	64753				ORPHA	1	48	30035	611317
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	SETX CL E G H	23064	64753				ORPHA	1	1290	445	608465
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	1	1290	445	608465
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2165	11226	610844
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	716	11276	604985
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	116	11588	600075
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	TDP1 CL E G H	55775	94124				ORPHA	1	208	18884	607198
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	507	12698	192977
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	1	967	12799	605131
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	0	46	7106	607047
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	COQ2 CL E G H	27235	98933				ORPHA	0	205	25223	609825
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	0	208	3671	601515
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	MRE11 CL E G H	4361	251347				ORPHA	0	1729	7230	600814
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	PRKCG CL E G H	5582	98763				ORPHA	0	290	9402	176980
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	SCN8A CL E G H	6334	614306	Cognitive impairment with or without cerebellar ataxia	614306	C3280415	OMIM	0	1494	10596	600702
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	SLC1A3 CL E G H	6507	209967				ORPHA	0	206	10941	600111
HP:0000640	HP:0000640	Gaze-evoked nystagmus	0	STUB1 CL E G H	10273	412057				ORPHA	0	170	11427	607207
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	0	46	7106	607047
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	COQ2 CL E G H	27235	98933				ORPHA	0	205	25223	609825
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	0	208	3671	601515
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	MRE11 CL E G H	4361	251347				ORPHA	0	1729	7230	600814
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	PRKCG CL E G H	5582	98763				ORPHA	0	290	9402	176980
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	SCN8A CL E G H	6334	614306	Cognitive impairment with or without cerebellar ataxia	614306	C3280415	OMIM	0	1494	10596	600702
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	SLC1A3 CL E G H	6507	209967				ORPHA	0	206	10941	600111
HP:0000640	HP:0007979	Gaze-evoked horizontal nystagmus	1	STUB1 CL E G H	10273	412057				ORPHA	0	170	11427	607207

Genes (32) :AFG3L2 APTX ATXN1 ATXN10 ATXN2 ATXN3 BEAN1 CACNA1A CACNA1G CACNB4 COQ2 FGF14 GRID2 GRM1 ITPR1 KCND3 MRE11 PIK3R5 PRKCG SACS SCN8A SETX SLC1A3 SPG11 SPTBN2 STUB1 SYT14 TBP TDP1 UROC1 VLDLR WWOX

Diseases (41) :610246 208920 164400 98761 183090 276244 276238 276241 109150 108500 183086 211067 613855 227510 98933 98764 609307 363432 251347 604391 64753 98763 614306 606002 209967 604360 600224 412057 607136 94124 224050 614322 117210 98758 458803 324262 606658 607346 98 284271 210128

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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