Human Phenotype Ontology 
Grandparent Node:
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Abnormal involuntary eye movements (HP:0012547)help
Parent Node:
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Nystagmus (HP:0000639)help
..Starting node
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Gaze-evoked nystagmus (HP:0000640)help
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:
........expandGaze-evoked horizontal nystagmus (HP:0007979) help

 Sister Nodes: 
..expandCongenital nystagmus (HP:0006934) help
..expandDivergence nystagmus (HP:0030691) help
..expandHorizontal nystagmus (HP:0000666) help
..expandNystagmus-induced head nodding (HP:0001361) help
..expandPendular nystagmus (HP:0012043) help
..expandRotary nystagmus (HP:0001583) help
..expandVertical nystagmus (HP:0010544) help
..expandVestibular nystagmus (HP:0010542) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000640HP:0000640Gaze-evoked nystagmus0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0000640HP:0000640Gaze-evoked nystagmus0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0000640HP:0000640Gaze-evoked nystagmus0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0000640HP:0000640Gaze-evoked nystagmus0BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 311
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6.449
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNB4 CL E G H7851404ORPHA:211067Episodic ataxia type 5HP:0040282 - Frequent146
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5.146
HP:0000640HP:0000640Gaze-evoked nystagmus0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000640HP:0000640Gaze-evoked nystagmus0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0000640HP:0000640Gaze-evoked nystagmus0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0000640HP:0000640Gaze-evoked nystagmus0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040283 - Occasional54
HP:0000640HP:0000640Gaze-evoked nystagmus0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0000640HP:0000640Gaze-evoked nystagmus0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant.47
HP:0000640HP:0000640Gaze-evoked nystagmus0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040281 - Very frequent47
HP:0000640HP:0000640Gaze-evoked nystagmus0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0000640HP:0000640Gaze-evoked nystagmus0GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyHP:0040282 - Frequent18
HP:0000640HP:0000640Gaze-evoked nystagmus0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency8
HP:0000640HP:0000640Gaze-evoked nystagmus0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000640HP:0000640Gaze-evoked nystagmus0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15177
HP:0000640HP:0000640Gaze-evoked nystagmus0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0000640HP:0000640Gaze-evoked nystagmus0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0000640HP:0000640Gaze-evoked nystagmus0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0000640HP:0000640Gaze-evoked nystagmus0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0000640HP:0000640Gaze-evoked nystagmus0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000640HP:0000640Gaze-evoked nystagmus0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040282 - Frequent11
HP:0000640HP:0000640Gaze-evoked nystagmus0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040281 - Very frequent7
HP:0000640HP:0000640Gaze-evoked nystagmus0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0000640HP:0000640Gaze-evoked nystagmus0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0000640HP:0000640Gaze-evoked nystagmus0PRDX3 CL E G H109359354OMIM:619862
HP:0000640HP:0000640Gaze-evoked nystagmus0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040283 - Occasional83
HP:0000640HP:0000640Gaze-evoked nystagmus0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0000640HP:0000640Gaze-evoked nystagmus0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000640HP:0000640Gaze-evoked nystagmus0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
HP:0000640HP:0000640Gaze-evoked nystagmus0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0000640HP:0000640Gaze-evoked nystagmus0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0000640HP:0000640Gaze-evoked nystagmus0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0000640HP:0000640Gaze-evoked nystagmus0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxiaHP:0040283 - Occasional357
HP:0000640HP:0000640Gaze-evoked nystagmus0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0000640HP:0000640Gaze-evoked nystagmus0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040282 - Frequent162
HP:0000640HP:0000640Gaze-evoked nystagmus0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0000640HP:0000640Gaze-evoked nystagmus0SLC1A3 CL E G H650710941ORPHA:209967Episodic ataxia type 6HP:0040283 - Occasional63
HP:0000640HP:0000640Gaze-evoked nystagmus0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiency24
HP:0000640HP:0000640Gaze-evoked nystagmus0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0000640HP:0000640Gaze-evoked nystagmus0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0000640HP:0000640Gaze-evoked nystagmus0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0000640HP:0000640Gaze-evoked nystagmus0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndrome4
HP:0000640HP:0000640Gaze-evoked nystagmus0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0000640HP:0000640Gaze-evoked nystagmus0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0000640HP:0000640Gaze-evoked nystagmus0THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000640HP:0000640Gaze-evoked nystagmus0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0000640HP:0000640Gaze-evoked nystagmus0UBAP1 CL E G H5127112461OMIM:618418Spastic paraplegia 80, autosomal dominantHP:0040284 - Very rare
HP:0000640HP:0000640Gaze-evoked nystagmus0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0000640HP:0000640Gaze-evoked nystagmus0UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduria8
HP:0000640HP:0000640Gaze-evoked nystagmus0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0000640HP:0000640Gaze-evoked nystagmus0WWOX CL E G H5174112799OMIM:614322Spinocerebellar ataxia, autosomal recessive 12.149
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 31HP:0040282 - Frequent1
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040281 - Very frequent449
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040282 - Frequent32
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040283 - Occasional8
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040283 - Occasional24
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040282 - Frequent4
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000640HP:0007979Gaze-evoked horizontal nystagmus1UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduriaHP:0040281 - Very frequent8


Genes (52) :AFG3L2 APTX ATP1A2 ATXN1 ATXN10 ATXN2 ATXN3 BEAN1 CACNA1A CACNA1G CACNB4 COL18A1 COQ2 EXOSC9 FGF14 GCH1 GRID2 GRM1 ITPR1 KCND3 MRE11 PAX7 PIK3R5 PMPCA POLR3A POLR3B PRDX3 PRKCG PRRT2 RBL2 RFC1 SACS SAMD9L SCN1A SCN8A SDHA SETX SLC1A3 SOX3 SPG11 SPTBN2 STUB1 SYT14 TBP TDP1 THG1L TMEM106B UBAP1 UCHL1 UROC1 VLDLR WWOX

Diseases (61) :OMIM:610246 OMIM:208920 ORPHA:569 OMIM:164400 ORPHA:98761 OMIM:183090 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:117210 OMIM:108500 OMIM:183086 ORPHA:98758 ORPHA:458803 ORPHA:211067 OMIM:613855 OMIM:267750 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:618065 OMIM:193003 ORPHA:98764 OMIM:128230 ORPHA:363432 ORPHA:324262 OMIM:614831 OMIM:606658 OMIM:117360 OMIM:607346 ORPHA:251347 OMIM:604391 OMIM:618578 ORPHA:64753 ORPHA:1170 OMIM:607694 OMIM:619862 ORPHA:98763 OMIM:619690 OMIM:614575 ORPHA:98 OMIM:619806 OMIM:614306 OMIM:619259 OMIM:606002 ORPHA:209967 ORPHA:67045 OMIM:604360 OMIM:600224 ORPHA:412057 ORPHA:284271 OMIM:607136 ORPHA:94124 OMIM:618800 OMIM:617964 OMIM:618418 OMIM:615491 ORPHA:210128 OMIM:224050 OMIM:614322
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.