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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000640HP:0000640Gaze-evoked nystagmus0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140315604581
HP:0000640HP:0000640Gaze-evoked nystagmus0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14615984606350
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM1710548601556
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN10 CL E G H2581498761ORPHA1410549611150
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM14410555601517
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN3 CL E G H4287276241ORPHA137106607047
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN3 CL E G H4287276238ORPHA137106607047
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN3 CL E G H4287276244ORPHA137106607047
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM12511388601011
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM12511388601011
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNB4 CL E G H785211067ORPHA171404601949
HP:0000640HP:0000640Gaze-evoked nystagmus0CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM171404601949
HP:0000640HP:0000640Gaze-evoked nystagmus0COQ2 CL E G H27235227510ORPHA13325223609825
HP:0000640HP:0000640Gaze-evoked nystagmus0FGF14 CL E G H225998764ORPHA1103671601515
HP:0000640HP:0000640Gaze-evoked nystagmus0GRID2 CL E G H2895363432ORPHA1214576602368
HP:0000640HP:0000640Gaze-evoked nystagmus0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM1577230600814
HP:0000640HP:0000640Gaze-evoked nystagmus0PIK3R5 CL E G H2353364753ORPHA1230035611317
HP:0000640HP:0000640Gaze-evoked nystagmus0SETX CL E G H2306464753ORPHA1216445608465
HP:0000640HP:0000640Gaze-evoked nystagmus0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM1216445608465
HP:0000640HP:0000640Gaze-evoked nystagmus0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM129311226610844
HP:0000640HP:0000640Gaze-evoked nystagmus0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM12911276604985
HP:0000640HP:0000640Gaze-evoked nystagmus0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM11811588600075
HP:0000640HP:0000640Gaze-evoked nystagmus0TDP1 CL E G H5577594124ORPHA1318884607198
HP:0000640HP:0000640Gaze-evoked nystagmus0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM12812698192977
HP:0000640HP:0000640Gaze-evoked nystagmus0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM15012799605131
HP:0000640HP:0000640Gaze-evoked nystagmus1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140315604581
HP:0000640HP:0000640Gaze-evoked nystagmus1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14615984606350
HP:0000640HP:0000640Gaze-evoked nystagmus1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM1710548601556
HP:0000640HP:0000640Gaze-evoked nystagmus1ATXN10 CL E G H2581498761ORPHA1410549611150
HP:0000640HP:0000640Gaze-evoked nystagmus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM14410555601517
HP:0000640HP:0000640Gaze-evoked nystagmus1ATXN3 CL E G H4287276238ORPHA137106607047
HP:0000640HP:0000640Gaze-evoked nystagmus1ATXN3 CL E G H4287276244ORPHA137106607047
HP:0000640HP:0000640Gaze-evoked nystagmus1ATXN3 CL E G H4287276241ORPHA137106607047
HP:0000640HP:0000640Gaze-evoked nystagmus1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM12511388601011
HP:0000640HP:0000640Gaze-evoked nystagmus1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM12511388601011
HP:0000640HP:0000640Gaze-evoked nystagmus1CACNB4 CL E G H785211067ORPHA171404601949
HP:0000640HP:0000640Gaze-evoked nystagmus1CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM171404601949
HP:0000640HP:0000640Gaze-evoked nystagmus1COQ2 CL E G H27235227510ORPHA13325223609825
HP:0000640HP:0000640Gaze-evoked nystagmus1FGF14 CL E G H225998764ORPHA1103671601515
HP:0000640HP:0000640Gaze-evoked nystagmus1GRID2 CL E G H2895363432ORPHA1214576602368
HP:0000640HP:0000640Gaze-evoked nystagmus1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM1577230600814
HP:0000640HP:0000640Gaze-evoked nystagmus1PIK3R5 CL E G H2353364753ORPHA1230035611317
HP:0000640HP:0000640Gaze-evoked nystagmus1SETX CL E G H2306464753ORPHA1216445608465
HP:0000640HP:0000640Gaze-evoked nystagmus1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM1216445608465
HP:0000640HP:0000640Gaze-evoked nystagmus1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM129311226610844
HP:0000640HP:0000640Gaze-evoked nystagmus1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM12911276604985
HP:0000640HP:0000640Gaze-evoked nystagmus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM11811588600075
HP:0000640HP:0000640Gaze-evoked nystagmus1TDP1 CL E G H5577594124ORPHA1318884607198
HP:0000640HP:0000640Gaze-evoked nystagmus1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM12812698192977
HP:0000640HP:0000640Gaze-evoked nystagmus1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM15012799605131
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000640HP:0000640Gaze-evoked nystagmus0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM037106607047
HP:0000640HP:0000640Gaze-evoked nystagmus0COQ2 CL E G H2723598933ORPHA03325223609825
HP:0000640HP:0000640Gaze-evoked nystagmus0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM0103671601515
HP:0000640HP:0000640Gaze-evoked nystagmus0MRE11 CL E G H4361251347ORPHA0577230600814
HP:0000640HP:0000640Gaze-evoked nystagmus0PRKCG CL E G H558298763ORPHA0529402176980
HP:0000640HP:0000640Gaze-evoked nystagmus0SCN8A CL E G H6334614306Cognitive impairment with or without cerebellar ataxia614306C3280415OMIM010310596600702
HP:0000640HP:0000640Gaze-evoked nystagmus0SLC1A3 CL E G H6507209967ORPHA01810941600111
HP:0000640HP:0000640Gaze-evoked nystagmus0STUB1 CL E G H10273412057ORPHA03111427607207
HP:0000640HP:0000640Gaze-evoked nystagmus1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM037106607047
HP:0000640HP:0000640Gaze-evoked nystagmus1COQ2 CL E G H2723598933ORPHA03325223609825
HP:0000640HP:0000640Gaze-evoked nystagmus1FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM0103671601515
HP:0000640HP:0000640Gaze-evoked nystagmus1MRE11 CL E G H4361251347ORPHA0577230600814
HP:0000640HP:0000640Gaze-evoked nystagmus1PRKCG CL E G H558298763ORPHA0529402176980
HP:0000640HP:0000640Gaze-evoked nystagmus1SCN8A CL E G H6334614306Cognitive impairment with or without cerebellar ataxia614306C3280415OMIM010310596600702
HP:0000640HP:0000640Gaze-evoked nystagmus1SLC1A3 CL E G H6507209967ORPHA01810941600111
HP:0000640HP:0000640Gaze-evoked nystagmus1STUB1 CL E G H10273412057ORPHA03111427607207


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 276238 276244 276241 109150 108500 183086 211067 613855 98933 227510 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 June 2019 release.