Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the eye (HP:0000478)help
Parent Node:
expand
Abnormal eye physiology (HP:0012373)help
..Starting node
..expand
Abnormality of eye movement (HP:0000496)help
Term ID: 496
Name: Abnormality of eye movement
Synonym: Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities
Definition: An abnormality in voluntary or involuntary eye movements or their control.
Comments:
Reference: HP:0000496
Genes and Diseases:
 
       Child Nodes:
........expandImpaired ocular adduction (HP:0000542) help
........expandAbnormal conjugate eye movement (HP:0000549) help
................... HP:0000486 Strabismus
................... HP:0000605 Supranuclear gaze palsy
................... HP:0000619 Impaired convergence
........expandAbnormality of saccadic eye movements (HP:0000570) help
................... HP:0000514 Slow saccadic eye movements
................... HP:0000571 Hypometric saccades
................... HP:0000641 Dysmetric saccades
................... HP:0007338 Hypermetric saccades
................... HP:0025402 Square-wave jerks
........expandOphthalmoparesis (HP:0000597) help
................... HP:0000602 Ophthalmoplegia
................... HP:0007715 Weak extraocular muscles
................... HP:0008507 Static ophthalmoparesis
................... HP:0012246 Oculomotor nerve palsy
................... HP:0012470 Setting-sun eye phenomenon
........expandAbnormality of ocular smooth pursuit (HP:0000617) help
................... HP:0001152 Saccadic smooth pursuit
................... HP:0007668 Impaired pursuit initiation and maintenance
................... HP:0007772 Impaired smooth pursuit
................... HP:0008003 Jerky ocular pursuit movements
........expandOculomotor apraxia (HP:0000657) help
........expandLimited extraocular movements (HP:0007941) help
........expandAbnormality of ocular abduction (HP:0011347) help
................... HP:0000497 Globe retraction and deviation on abduction
................... HP:0000634 Impaired ocular abduction
........expandAbnormal involuntary eye movements (HP:0012547) help
................... HP:0000639 Nystagmus
................... HP:0007295 Chaotic rapid conjugate ocular movements
................... HP:0007704 Paroxysmal involuntary eye movements
................... HP:0007738 Uncontrolled eye movements
................... HP:0010543 Opsoclonus
........expandMarcus Gunn jaw winking synkinesis (HP:0025186) help
........expandAbnormal visual fixation (HP:0025404) help
................... HP:0025405 Visual fixation instability
................... HP:0025549 Eccentric visual fixation
........expandVisual gaze preference (HP:0025518) help
........expandCompensatory head posture (HP:0031705) help
................... HP:0001477 Compensatory chin elevation
................... HP:0031706 Compensatory chin depression
................... HP:0031707 Compensatory face turn to the right
................... HP:0031708 Compensatory face turn to the left
................... HP:0031709 Compensatory head tilt to the right shoulder
................... HP:0031710 Compensatory head tilt to the left shoulder
........expandAbnormal ocular alignment (HP:0500073) help
................... HP:0500074 Dissociated vertical deviation
................... HP:0500075 Dissociated horizontal deviation

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000496HP:0000496Abnormality of eye movement0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175465408610045
HP:0000496HP:0000496Abnormality of eye movement0ALS2 CL E G H57679293168ORPHA173515443606352
HP:0000496HP:0000496Abnormality of eye movement0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11125020730617612
HP:0000496HP:0000496Abnormality of eye movement0CACNB4 CL E G H785307ORPHA172991404601949
HP:0000496HP:0000496Abnormality of eye movement0CLCN2 CL E G H1181307ORPHA1441532020600570
HP:0000496HP:0000496Abnormality of eye movement0EFHC1 CL E G H114327307ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement0EFHC1 CL E G H1143271941ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement0GABRA1 CL E G H2554307ORPHA1484094075137160
HP:0000496HP:0000496Abnormality of eye movement0GABRD CL E G H2563307ORPHA173374084137163
HP:0000496HP:0000496Abnormality of eye movement0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522534193600225
HP:0000496HP:0000496Abnormality of eye movement0HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM181125099142955
HP:0000496HP:0000496Abnormality of eye movement0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM181434851613004
HP:0000496HP:0000496Abnormality of eye movement0ICK CL E G H22858307ORPHA1321219612325
HP:0000496HP:0000496Abnormality of eye movement0JRK CL E G H8629307ORPHA12646199603210
HP:0000496HP:0000496Abnormality of eye movement0KCNJ6 CL E G H3763435628ORPHA13966267600877
HP:0000496HP:0000496Abnormality of eye movement0KCNQ3 CL E G H3786307ORPHA1258666297602232
HP:0000496HP:0000496Abnormality of eye movement0KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM13131919960610178
HP:0000496HP:0000496Abnormality of eye movement0KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000496HP:0000496Abnormality of eye movement0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1222066901600521
HP:0000496HP:0000496Abnormality of eye movement0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM131817194609435
HP:0000496HP:0000496Abnormality of eye movement0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11935138806300502
HP:0000496HP:0000496Abnormality of eye movement0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12222821350608769
HP:0000496HP:0000496Abnormality of eye movement0PNPO CL E G H5516379096ORPHA13122430260603287
HP:0000496HP:0000496Abnormality of eye movement0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM16359305604325
HP:0000496HP:0000496Abnormality of eye movement0PSAP CL E G H5660139406ORPHA1273889498176801
HP:0000496HP:0000496Abnormality of eye movement0RS1 CL E G H6247792ORPHA127954810457300839
HP:0000496HP:0000496Abnormality of eye movement0SLC18A2 CL E G H6571352649ORPHA187810935193001
HP:0000496HP:0000496Abnormality of eye movement0SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0000496HP:0000496Abnormality of eye movement0SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0000496HP:0000496Abnormality of eye movement0SNAP29 CL E G H934266631ORPHA11356211133604202
HP:0000496HP:0000496Abnormality of eye movement0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA11214224519613847
HP:0000496HP:0000496Abnormality of eye movement0TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM11214224519613847
HP:0000496HP:0000496Abnormality of eye movement0WDR45 CL E G H11152329284ORPHA17842228912300526
HP:0000496HP:0000496Abnormality of eye movement0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17842228912300526
HP:0000496HP:0000496Abnormality of eye movement0ZNHIT3 CL E G H93262836ORPHA1110812309604500
HP:0000496HP:0000496Abnormality of eye movement1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175465408610045
HP:0000496HP:0000496Abnormality of eye movement1ALS2 CL E G H57679293168ORPHA173515443606352
HP:0000496HP:0000496Abnormality of eye movement1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11125020730617612
HP:0000496HP:0000496Abnormality of eye movement1CACNB4 CL E G H785307ORPHA172991404601949
HP:0000496HP:0000496Abnormality of eye movement1CLCN2 CL E G H1181307ORPHA1441532020600570
HP:0000496HP:0000496Abnormality of eye movement1EFHC1 CL E G H114327307ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement1EFHC1 CL E G H1143271941ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement1GABRA1 CL E G H2554307ORPHA1484094075137160
HP:0000496HP:0000496Abnormality of eye movement1GABRD CL E G H2563307ORPHA173374084137163
HP:0000496HP:0000496Abnormality of eye movement1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522534193600225
HP:0000496HP:0000496Abnormality of eye movement1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM181125099142955
HP:0000496HP:0000496Abnormality of eye movement1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM181434851613004
HP:0000496HP:0000496Abnormality of eye movement1ICK CL E G H22858307ORPHA1321219612325
HP:0000496HP:0000496Abnormality of eye movement1JRK CL E G H8629307ORPHA12646199603210
HP:0000496HP:0000496Abnormality of eye movement1KCNJ6 CL E G H3763435628ORPHA13966267600877
HP:0000496HP:0000496Abnormality of eye movement1KCNQ3 CL E G H3786307ORPHA1258666297602232
HP:0000496HP:0000496Abnormality of eye movement1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM13131919960610178
HP:0000496HP:0000496Abnormality of eye movement1KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000496HP:0000496Abnormality of eye movement1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1222066901600521
HP:0000496HP:0000496Abnormality of eye movement1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM131817194609435
HP:0000496HP:0000496Abnormality of eye movement1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11935138806300502
HP:0000496HP:0000496Abnormality of eye movement1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12222821350608769
HP:0000496HP:0000496Abnormality of eye movement1PNPO CL E G H5516379096ORPHA13122430260603287
HP:0000496HP:0000496Abnormality of eye movement1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM16359305604325
HP:0000496HP:0000496Abnormality of eye movement1PSAP CL E G H5660139406ORPHA1273889498176801
HP:0000496HP:0000496Abnormality of eye movement1RS1 CL E G H6247792ORPHA127954810457300839
HP:0000496HP:0000496Abnormality of eye movement1SLC18A2 CL E G H6571352649ORPHA187810935193001
HP:0000496HP:0000496Abnormality of eye movement1SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0000496HP:0000496Abnormality of eye movement1SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0000496HP:0000496Abnormality of eye movement1SNAP29 CL E G H934266631ORPHA11356211133604202
HP:0000496HP:0000496Abnormality of eye movement1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA11214224519613847
HP:0000496HP:0000496Abnormality of eye movement1TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM11214224519613847
HP:0000496HP:0000496Abnormality of eye movement1WDR45 CL E G H11152329284ORPHA17842228912300526
HP:0000496HP:0000496Abnormality of eye movement1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17842228912300526
HP:0000496HP:0000496Abnormality of eye movement1ZNHIT3 CL E G H93262836ORPHA1110812309604500
HP:0000496HP:0000496Abnormality of eye movement2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175465408610045
HP:0000496HP:0000496Abnormality of eye movement2ALS2 CL E G H57679293168ORPHA173515443606352
HP:0000496HP:0000496Abnormality of eye movement2ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11125020730617612
HP:0000496HP:0000496Abnormality of eye movement2CACNB4 CL E G H785307ORPHA172991404601949
HP:0000496HP:0000496Abnormality of eye movement2CLCN2 CL E G H1181307ORPHA1441532020600570
HP:0000496HP:0000496Abnormality of eye movement2EFHC1 CL E G H114327307ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement2EFHC1 CL E G H1143271941ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement2GABRA1 CL E G H2554307ORPHA1484094075137160
HP:0000496HP:0000496Abnormality of eye movement2GABRD CL E G H2563307ORPHA173374084137163
HP:0000496HP:0000496Abnormality of eye movement2GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522534193600225
HP:0000496HP:0000496Abnormality of eye movement2HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM181125099142955
HP:0000496HP:0000496Abnormality of eye movement2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM181434851613004
HP:0000496HP:0000496Abnormality of eye movement2ICK CL E G H22858307ORPHA1321219612325
HP:0000496HP:0000496Abnormality of eye movement2JRK CL E G H8629307ORPHA12646199603210
HP:0000496HP:0000496Abnormality of eye movement2KCNJ6 CL E G H3763435628ORPHA13966267600877
HP:0000496HP:0000496Abnormality of eye movement2KCNQ3 CL E G H3786307ORPHA1258666297602232
HP:0000496HP:0000496Abnormality of eye movement2KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM13131919960610178
HP:0000496HP:0000496Abnormality of eye movement2KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000496HP:0000496Abnormality of eye movement2MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1222066901600521
HP:0000496HP:0000496Abnormality of eye movement2NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM131817194609435
HP:0000496HP:0000496Abnormality of eye movement2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11935138806300502
HP:0000496HP:0000496Abnormality of eye movement2PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12222821350608769
HP:0000496HP:0000496Abnormality of eye movement2PNPO CL E G H5516379096ORPHA13122430260603287
HP:0000496HP:0000496Abnormality of eye movement2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM16359305604325
HP:0000496HP:0000496Abnormality of eye movement2PSAP CL E G H5660139406ORPHA1273889498176801
HP:0000496HP:0000496Abnormality of eye movement2RS1 CL E G H6247792ORPHA127954810457300839
HP:0000496HP:0000496Abnormality of eye movement2SLC18A2 CL E G H6571352649ORPHA187810935193001
HP:0000496HP:0000496Abnormality of eye movement2SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0000496HP:0000496Abnormality of eye movement2SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0000496HP:0000496Abnormality of eye movement2SNAP29 CL E G H934266631ORPHA11356211133604202
HP:0000496HP:0000496Abnormality of eye movement2TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA11214224519613847
HP:0000496HP:0000496Abnormality of eye movement2TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM11214224519613847
HP:0000496HP:0000496Abnormality of eye movement2WDR45 CL E G H11152329284ORPHA17842228912300526
HP:0000496HP:0000496Abnormality of eye movement2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17842228912300526
HP:0000496HP:0000496Abnormality of eye movement2ZNHIT3 CL E G H93262836ORPHA1110812309604500
HP:0000496HP:0000496Abnormality of eye movement3ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175465408610045
HP:0000496HP:0000496Abnormality of eye movement3ALS2 CL E G H57679293168ORPHA173515443606352
HP:0000496HP:0000496Abnormality of eye movement3ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11125020730617612
HP:0000496HP:0000496Abnormality of eye movement3CACNB4 CL E G H785307ORPHA172991404601949
HP:0000496HP:0000496Abnormality of eye movement3CLCN2 CL E G H1181307ORPHA1441532020600570
HP:0000496HP:0000496Abnormality of eye movement3EFHC1 CL E G H114327307ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement3EFHC1 CL E G H1143271941ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement3GABRA1 CL E G H2554307ORPHA1484094075137160
HP:0000496HP:0000496Abnormality of eye movement3GABRD CL E G H2563307ORPHA173374084137163
HP:0000496HP:0000496Abnormality of eye movement3GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522534193600225
HP:0000496HP:0000496Abnormality of eye movement3HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM181125099142955
HP:0000496HP:0000496Abnormality of eye movement3HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM181434851613004
HP:0000496HP:0000496Abnormality of eye movement3ICK CL E G H22858307ORPHA1321219612325
HP:0000496HP:0000496Abnormality of eye movement3JRK CL E G H8629307ORPHA12646199603210
HP:0000496HP:0000496Abnormality of eye movement3KCNJ6 CL E G H3763435628ORPHA13966267600877
HP:0000496HP:0000496Abnormality of eye movement3KCNQ3 CL E G H3786307ORPHA1258666297602232
HP:0000496HP:0000496Abnormality of eye movement3KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM13131919960610178
HP:0000496HP:0000496Abnormality of eye movement3KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000496HP:0000496Abnormality of eye movement3MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1222066901600521
HP:0000496HP:0000496Abnormality of eye movement3NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM131817194609435
HP:0000496HP:0000496Abnormality of eye movement3PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11935138806300502
HP:0000496HP:0000496Abnormality of eye movement3PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12222821350608769
HP:0000496HP:0000496Abnormality of eye movement3PNPO CL E G H5516379096ORPHA13122430260603287
HP:0000496HP:0000496Abnormality of eye movement3PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM16359305604325
HP:0000496HP:0000496Abnormality of eye movement3PSAP CL E G H5660139406ORPHA1273889498176801
HP:0000496HP:0000496Abnormality of eye movement3RS1 CL E G H6247792ORPHA127954810457300839
HP:0000496HP:0000496Abnormality of eye movement3SLC18A2 CL E G H6571352649ORPHA187810935193001
HP:0000496HP:0000496Abnormality of eye movement3SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0000496HP:0000496Abnormality of eye movement3SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0000496HP:0000496Abnormality of eye movement3SNAP29 CL E G H934266631ORPHA11356211133604202
HP:0000496HP:0000496Abnormality of eye movement3TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA11214224519613847
HP:0000496HP:0000496Abnormality of eye movement3TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM11214224519613847
HP:0000496HP:0000496Abnormality of eye movement3WDR45 CL E G H11152329284ORPHA17842228912300526
HP:0000496HP:0000496Abnormality of eye movement3WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17842228912300526
HP:0000496HP:0000496Abnormality of eye movement3ZNHIT3 CL E G H93262836ORPHA1110812309604500
HP:0000496HP:0000496Abnormality of eye movement4ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175465408610045
HP:0000496HP:0000496Abnormality of eye movement4ALS2 CL E G H57679293168ORPHA173515443606352
HP:0000496HP:0000496Abnormality of eye movement4ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11125020730617612
HP:0000496HP:0000496Abnormality of eye movement4CACNB4 CL E G H785307ORPHA172991404601949
HP:0000496HP:0000496Abnormality of eye movement4CLCN2 CL E G H1181307ORPHA1441532020600570
HP:0000496HP:0000496Abnormality of eye movement4EFHC1 CL E G H114327307ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement4EFHC1 CL E G H1143271941ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement4GABRA1 CL E G H2554307ORPHA1484094075137160
HP:0000496HP:0000496Abnormality of eye movement4GABRD CL E G H2563307ORPHA173374084137163
HP:0000496HP:0000496Abnormality of eye movement4GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522534193600225
HP:0000496HP:0000496Abnormality of eye movement4HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM181125099142955
HP:0000496HP:0000496Abnormality of eye movement4HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM181434851613004
HP:0000496HP:0000496Abnormality of eye movement4ICK CL E G H22858307ORPHA1321219612325
HP:0000496HP:0000496Abnormality of eye movement4JRK CL E G H8629307ORPHA12646199603210
HP:0000496HP:0000496Abnormality of eye movement4KCNJ6 CL E G H3763435628ORPHA13966267600877
HP:0000496HP:0000496Abnormality of eye movement4KCNQ3 CL E G H3786307ORPHA1258666297602232
HP:0000496HP:0000496Abnormality of eye movement4KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM13131919960610178
HP:0000496HP:0000496Abnormality of eye movement4KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000496HP:0000496Abnormality of eye movement4MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1222066901600521
HP:0000496HP:0000496Abnormality of eye movement4NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM131817194609435
HP:0000496HP:0000496Abnormality of eye movement4PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11935138806300502
HP:0000496HP:0000496Abnormality of eye movement4PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12222821350608769
HP:0000496HP:0000496Abnormality of eye movement4PNPO CL E G H5516379096ORPHA13122430260603287
HP:0000496HP:0000496Abnormality of eye movement4PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM16359305604325
HP:0000496HP:0000496Abnormality of eye movement4PSAP CL E G H5660139406ORPHA1273889498176801
HP:0000496HP:0000496Abnormality of eye movement4RS1 CL E G H6247792ORPHA127954810457300839
HP:0000496HP:0000496Abnormality of eye movement4SLC18A2 CL E G H6571352649ORPHA187810935193001
HP:0000496HP:0000496Abnormality of eye movement4SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0000496HP:0000496Abnormality of eye movement4SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0000496HP:0000496Abnormality of eye movement4SNAP29 CL E G H934266631ORPHA11356211133604202
HP:0000496HP:0000496Abnormality of eye movement4TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA11214224519613847
HP:0000496HP:0000496Abnormality of eye movement4TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM11214224519613847
HP:0000496HP:0000496Abnormality of eye movement4WDR45 CL E G H11152329284ORPHA17842228912300526
HP:0000496HP:0000496Abnormality of eye movement4WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17842228912300526
HP:0000496HP:0000496Abnormality of eye movement4ZNHIT3 CL E G H93262836ORPHA1110812309604500
HP:0000496HP:0000496Abnormality of eye movement5ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175465408610045
HP:0000496HP:0000496Abnormality of eye movement5ALS2 CL E G H57679293168ORPHA173515443606352
HP:0000496HP:0000496Abnormality of eye movement5ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11125020730617612
HP:0000496HP:0000496Abnormality of eye movement5CACNB4 CL E G H785307ORPHA172991404601949
HP:0000496HP:0000496Abnormality of eye movement5CLCN2 CL E G H1181307ORPHA1441532020600570
HP:0000496HP:0000496Abnormality of eye movement5EFHC1 CL E G H114327307ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement5EFHC1 CL E G H1143271941ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement5GABRA1 CL E G H2554307ORPHA1484094075137160
HP:0000496HP:0000496Abnormality of eye movement5GABRD CL E G H2563307ORPHA173374084137163
HP:0000496HP:0000496Abnormality of eye movement5GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522534193600225
HP:0000496HP:0000496Abnormality of eye movement5HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM181125099142955
HP:0000496HP:0000496Abnormality of eye movement5HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM181434851613004
HP:0000496HP:0000496Abnormality of eye movement5ICK CL E G H22858307ORPHA1321219612325
HP:0000496HP:0000496Abnormality of eye movement5JRK CL E G H8629307ORPHA12646199603210
HP:0000496HP:0000496Abnormality of eye movement5KCNJ6 CL E G H3763435628ORPHA13966267600877
HP:0000496HP:0000496Abnormality of eye movement5KCNQ3 CL E G H3786307ORPHA1258666297602232
HP:0000496HP:0000496Abnormality of eye movement5KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM13131919960610178
HP:0000496HP:0000496Abnormality of eye movement5KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000496HP:0000496Abnormality of eye movement5MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1222066901600521
HP:0000496HP:0000496Abnormality of eye movement5NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM131817194609435
HP:0000496HP:0000496Abnormality of eye movement5PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11935138806300502
HP:0000496HP:0000496Abnormality of eye movement5PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12222821350608769
HP:0000496HP:0000496Abnormality of eye movement5PNPO CL E G H5516379096ORPHA13122430260603287
HP:0000496HP:0000496Abnormality of eye movement5PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM16359305604325
HP:0000496HP:0000496Abnormality of eye movement5PSAP CL E G H5660139406ORPHA1273889498176801
HP:0000496HP:0000496Abnormality of eye movement5RS1 CL E G H6247792ORPHA127954810457300839
HP:0000496HP:0000496Abnormality of eye movement5SLC18A2 CL E G H6571352649ORPHA187810935193001
HP:0000496HP:0000496Abnormality of eye movement5SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0000496HP:0000496Abnormality of eye movement5SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0000496HP:0000496Abnormality of eye movement5SNAP29 CL E G H934266631ORPHA11356211133604202
HP:0000496HP:0000496Abnormality of eye movement5TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA11214224519613847
HP:0000496HP:0000496Abnormality of eye movement5TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM11214224519613847
HP:0000496HP:0000496Abnormality of eye movement5WDR45 CL E G H11152329284ORPHA17842228912300526
HP:0000496HP:0000496Abnormality of eye movement5WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17842228912300526
HP:0000496HP:0000496Abnormality of eye movement5ZNHIT3 CL E G H93262836ORPHA1110812309604500
HP:0000496HP:0000496Abnormality of eye movement6ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175465408610045
HP:0000496HP:0000496Abnormality of eye movement6ALS2 CL E G H57679293168ORPHA173515443606352
HP:0000496HP:0000496Abnormality of eye movement6ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11125020730617612
HP:0000496HP:0000496Abnormality of eye movement6CACNB4 CL E G H785307ORPHA172991404601949
HP:0000496HP:0000496Abnormality of eye movement6CLCN2 CL E G H1181307ORPHA1441532020600570
HP:0000496HP:0000496Abnormality of eye movement6EFHC1 CL E G H1143271941ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement6EFHC1 CL E G H114327307ORPHA13841516406608815
HP:0000496HP:0000496Abnormality of eye movement6GABRA1 CL E G H2554307ORPHA1484094075137160
HP:0000496HP:0000496Abnormality of eye movement6GABRD CL E G H2563307ORPHA173374084137163
HP:0000496HP:0000496Abnormality of eye movement6GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522534193600225
HP:0000496HP:0000496Abnormality of eye movement6HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM181125099142955
HP:0000496HP:0000496Abnormality of eye movement6HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM181434851613004
HP:0000496HP:0000496Abnormality of eye movement6ICK CL E G H22858307ORPHA1321219612325
HP:0000496HP:0000496Abnormality of eye movement6JRK CL E G H8629307ORPHA12646199603210
HP:0000496HP:0000496Abnormality of eye movement6KCNJ6 CL E G H3763435628ORPHA13966267600877
HP:0000496HP:0000496Abnormality of eye movement6KCNQ3 CL E G H3786307ORPHA1258666297602232
HP:0000496HP:0000496Abnormality of eye movement6KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM13131919960610178
HP:0000496HP:0000496Abnormality of eye movement6KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000496HP:0000496Abnormality of eye movement6MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1222066901600521
HP:0000496HP:0000496Abnormality of eye movement6NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM131817194609435
HP:0000496HP:0000496Abnormality of eye movement6PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11935138806300502
HP:0000496HP:0000496Abnormality of eye movement6PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12222821350608769
HP:0000496HP:0000496Abnormality of eye movement6PNPO CL E G H5516379096ORPHA13122430260603287
HP:0000496HP:0000496Abnormality of eye movement6PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM16359305604325
HP:0000496HP:0000496Abnormality of eye movement6PSAP CL E G H5660139406ORPHA1273889498176801
HP:0000496HP:0000496Abnormality of eye movement6RS1 CL E G H6247792ORPHA127954810457300839
HP:0000496HP:0000496Abnormality of eye movement6SLC18A2 CL E G H6571352649ORPHA187810935193001
HP:0000496HP:0000496Abnormality of eye movement6SLC52A2 CL E G H7958197229ORPHA12732330224607882
HP:0000496HP:0000496Abnormality of eye movement6SLC52A3 CL E G H11327897229ORPHA14431316187613350
HP:0000496HP:0000496Abnormality of eye movement6SNAP29 CL E G H934266631ORPHA11356211133604202
HP:0000496HP:0000496Abnormality of eye movement6TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA11214224519613847
HP:0000496HP:0000496Abnormality of eye movement6TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM11214224519613847
HP:0000496HP:0000496Abnormality of eye movement6WDR45 CL E G H11152329284ORPHA17842228912300526
HP:0000496HP:0000496Abnormality of eye movement6WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17842228912300526
HP:0000496HP:0000496Abnormality of eye movement6ZNHIT3 CL E G H93262836ORPHA1110812309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000496HP:0000496Abnormality of eye movement0ATP1A3 CL E G H4781171ORPHA0122597801182350
HP:0000496HP:0000496Abnormality of eye movement0CAPN1 CL E G H823488594ORPHA018801476114220
HP:0000496HP:0000496Abnormality of eye movement0ERLIN2 CL E G H11160209951ORPHA0151351356611605
HP:0000496HP:0000496Abnormality of eye movement0FTL CL E G H2512157846ORPHA0641033999134790
HP:0000496HP:0000496Abnormality of eye movement0GCDH CL E G H263925ORPHA02444634189608801
HP:0000496HP:0000496Abnormality of eye movement0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02846218873606951
HP:0000496HP:0000496Abnormality of eye movement0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM04534615840606834
HP:0000496HP:0000496Abnormality of eye movement0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01728211535313650
HP:0000496HP:0000496Abnormality of eye movement1ATP1A3 CL E G H4781171ORPHA0122597801182350
HP:0000496HP:0000496Abnormality of eye movement1CAPN1 CL E G H823488594ORPHA018801476114220
HP:0000496HP:0000496Abnormality of eye movement1ERLIN2 CL E G H11160209951ORPHA0151351356611605
HP:0000496HP:0000496Abnormality of eye movement1FTL CL E G H2512157846ORPHA0641033999134790
HP:0000496HP:0000496Abnormality of eye movement1GCDH CL E G H263925ORPHA02444634189608801
HP:0000496HP:0000496Abnormality of eye movement1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02846218873606951
HP:0000496HP:0000496Abnormality of eye movement1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM04534615840606834
HP:0000496HP:0000496Abnormality of eye movement1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01728211535313650
HP:0000496HP:0000496Abnormality of eye movement2ATP1A3 CL E G H4781171ORPHA0122597801182350
HP:0000496HP:0000496Abnormality of eye movement2CAPN1 CL E G H823488594ORPHA018801476114220
HP:0000496HP:0000496Abnormality of eye movement2ERLIN2 CL E G H11160209951ORPHA0151351356611605
HP:0000496HP:0000496Abnormality of eye movement2FTL CL E G H2512157846ORPHA0641033999134790
HP:0000496HP:0000496Abnormality of eye movement2GCDH CL E G H263925ORPHA02444634189608801
HP:0000496HP:0000496Abnormality of eye movement2IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02846218873606951
HP:0000496HP:0000496Abnormality of eye movement2KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM04534615840606834
HP:0000496HP:0000496Abnormality of eye movement2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01728211535313650
HP:0000496HP:0000496Abnormality of eye movement3ATP1A3 CL E G H4781171ORPHA0122597801182350
HP:0000496HP:0000496Abnormality of eye movement3CAPN1 CL E G H823488594ORPHA018801476114220
HP:0000496HP:0000496Abnormality of eye movement3ERLIN2 CL E G H11160209951ORPHA0151351356611605
HP:0000496HP:0000496Abnormality of eye movement3FTL CL E G H2512157846ORPHA0641033999134790
HP:0000496HP:0000496Abnormality of eye movement3GCDH CL E G H263925ORPHA02444634189608801
HP:0000496HP:0000496Abnormality of eye movement3IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02846218873606951
HP:0000496HP:0000496Abnormality of eye movement3KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM04534615840606834
HP:0000496HP:0000496Abnormality of eye movement3TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01728211535313650
HP:0000496HP:0000496Abnormality of eye movement4ATP1A3 CL E G H4781171ORPHA0122597801182350
HP:0000496HP:0000496Abnormality of eye movement4CAPN1 CL E G H823488594ORPHA018801476114220
HP:0000496HP:0000496Abnormality of eye movement4ERLIN2 CL E G H11160209951ORPHA0151351356611605
HP:0000496HP:0000496Abnormality of eye movement4FTL CL E G H2512157846ORPHA0641033999134790
HP:0000496HP:0000496Abnormality of eye movement4GCDH CL E G H263925ORPHA02444634189608801
HP:0000496HP:0000496Abnormality of eye movement4IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02846218873606951
HP:0000496HP:0000496Abnormality of eye movement4KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM04534615840606834
HP:0000496HP:0000496Abnormality of eye movement4TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01728211535313650
HP:0000496HP:0000496Abnormality of eye movement5ATP1A3 CL E G H4781171ORPHA0122597801182350
HP:0000496HP:0000496Abnormality of eye movement5CAPN1 CL E G H823488594ORPHA018801476114220
HP:0000496HP:0000496Abnormality of eye movement5ERLIN2 CL E G H11160209951ORPHA0151351356611605
HP:0000496HP:0000496Abnormality of eye movement5FTL CL E G H2512157846ORPHA0641033999134790
HP:0000496HP:0000496Abnormality of eye movement5GCDH CL E G H263925ORPHA02444634189608801
HP:0000496HP:0000496Abnormality of eye movement5IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02846218873606951
HP:0000496HP:0000496Abnormality of eye movement5KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM04534615840606834
HP:0000496HP:0000496Abnormality of eye movement5TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01728211535313650
HP:0000496HP:0000496Abnormality of eye movement6ATP1A3 CL E G H4781171ORPHA0122597801182350
HP:0000496HP:0000496Abnormality of eye movement6CAPN1 CL E G H823488594ORPHA018801476114220
HP:0000496HP:0000496Abnormality of eye movement6ERLIN2 CL E G H11160209951ORPHA0151351356611605
HP:0000496HP:0000496Abnormality of eye movement6FTL CL E G H2512157846ORPHA0641033999134790
HP:0000496HP:0000496Abnormality of eye movement6GCDH CL E G H263925ORPHA02444634189608801
HP:0000496HP:0000496Abnormality of eye movement6IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02846218873606951
HP:0000496HP:0000496Abnormality of eye movement6KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM04534615840606834
HP:0000496HP:0000496Abnormality of eye movement6TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01728211535313650


Genes (1294) :A2ML1 AARS AARS2 ABCA4 ABCA7 ABCB7 ABCC8 ABHD12 ABHD5 ACADS ACADSB ACO2 ACOX1 ACOX2 ACSL4 ACTA1 ADA2 ADAMTSL4 ADAR ADAT3 ADD3 ADGRG1 ADGRV1 ADNP ADPRHL2 ADSL AFG3L2 AGBL5 AGK AGRN AGTPBP1 AHCY AHDC1 AHI1 AHR AIMP1 AIP AIPL1 AK9 AKT1 ALDH18A1 ALDH5A1 ALDH7A1 ALG11 ALG13 ALG2 ALG3 ALG6 ALG9 ALMS1 ALS2 ALX3 ALX4 AMMECR1 ANGPTL6 ANK1 ANKRD11 ANO10 ANOS1 ANTXR1 AP1S2 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 APP APTX ARHGAP31 ARHGEF18 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARV1 ARVCF ARX ASAH1 ASCL1 ASPA ASXL1 ASXL3 ATAD3A ATCAY ATF6 ATM ATN1 ATOH7 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP6 ATP6V0A2 ATP6V1A ATP6V1E1 ATP8 ATP8A2 ATR ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUTS2 B3GALNT2 B3GAT3 B3GLCT B4GALNT1 B9D1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCL11A BCOR BCR BCS1L BDNF BEAN1 BEST1 BIN1 BLOC1S3 BLOC1S6 BMP4 BPTF BRAF BRAT1 BRCA1 BRCA2 BRIP1 BRPF1 BUB1B C12ORF65 C19ORF12 C1QBP C8ORF37 C9ORF72 CA4 CA8 CABP4 CACNA1A CACNA1E CACNA1F CACNA1G CACNA1S CACNA2D4 CACNB4 CAMK2A CAMK2B CAMTA1 CAPN1 CASK CAV1 CC2D2A CCDC141 CCDC174 CCDC88C CCNQ CD96 CDC42 CDC45 CDCA7 CDH11 CDH23 CDH3 CDHR1 CDK13 CDON CEP104 CEP120 CEP152 CEP164 CEP290 CEP41 CEP78 CEP83 CERKL CFAP410 CHAMP1 CHAT CHCHD10 CHD3 CHD7 CHMP1A CHN1 CHRNA1 CHRNA7 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CISD2 CLCN2 CLCN4 CLCN7 CLDN16 CLDN19 CLIP2 CLN5 CLP1 CLRN1 CLTC CNGA1 CNGA3 CNGB1 CNGB3 CNKSR2 CNNM4 COG4 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL18A1 COL25A1 COL2A1 COL3A1 COL4A1 COL6A1 COL6A2 COL6A3 COLEC11 COLQ COMT COQ2 COQ8A COX1 COX10 COX15 COX2 COX3 CPLANE1 CPLX1 CRB1 CREBBP CRKL CRX CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CTCF CTDP1 CTNNB1 CWF19L1 CYB5R3 CYFIP2 CYP1B1 CYP7B1 CYTB DAB1 DACT1 DARS DARS2 DCC DCN DCTN1 DCX DDB2 DDHD2 DDOST DEAF1 DGUOK DHCR24 DHCR7 DHDDS DHODH DHX30 DHX38 DISP1 DKC1 DKK1 DLAT DLG3 DLL1 DLL4 DMPK DNA2 DNAJC12 DNAJC6 DNM1 DNM1L DNM2 DNMT1 DOCK6 DOK7 DPAGT1 DPF2 DPM1 DPM2 DPP6 DPYD DTNBP1 DUSP6 DVL1 DVL3 DYNC2LI1 EARS2 EBF3 EBP ECHS1 EDNRB EEF1A2 EEF2 EFHC1 EFNB1 EGR2 EIF2S3 ELN ELOVL4 ELOVL5 EMC1 ENG EOGT EP300 EPG5 EPRS ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD ESCO2 EVC EVC2 EXOSC2 EXOSC3 EXOSC9 EXT2 EYS EZH2 FA2H FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXL4 FBXO11 FBXO7 FDXR FEZF1 FGD1 FGF12 FGF14 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FKRP FKTN FLI1 FLII FLNA FLRT1 FLRT3 FMR1 FOXC1 FOXE3 FOXH1 FOXL2 FOXP1 FOXRED1 FRG1 FRMD4A FRMD7 FRMPD4 FRRS1L FSCN2 FTL FUS FXN FZD2 GABRA1 GABRA3 GABRB2 GABRD GALC GAN GAS1 GATA4 GATAD2B GBA GBA2 GCDH GCH1 GDF3 GDF5 GDF6 GFER GFM1 GFPT1 GGCX GJA1 GJA8 GJB1 GJB6 GJC2 GK GLI1 GLI2 GLRB GLRX5 GM2A GMNN GMPPA GMPPB GNAQ GNAS GNAT1 GNAT2 GNB1 GNB3 GNB5 GP1BB GPAA1 GPR143 GPR179 GRIA4 GRID2 GRIN1 GRIN2D GRK1 GRM1 GRM6 GTF2E2 GTF2I GTF2IRD1 GUCA1B GUCY2D HACD1 HACE1 HADHA HARS HCN1 HDAC8 HECW2 HERC2 HESX1 HGSNAT HHAT HIBCH HIKESHI HIRA HIST1H1E HMGB3 HMX1 HNRNPU HOXA1 HOXA13 HOXB1 HPS1 HPS3 HPS4 HPS5 HPS6 HRAS HS6ST1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTRA1 HTT HYLS1 IARS2 IBA57 ICK IDH3B IFIH1 IFRD1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT88 IGBP1 IGF1R IKBKG IL17RD IMPDH1 IMPG2 INPP5E INPP5K IPW IQCB1 IQSEC2 IRF2BPL ISCA2 ITGA7 ITPR1 JAG1 JMJD1C JRK KANSL1 KAT6A KAT6B KCNA2 KCNAB2 KCNB1 KCNC3 KCND3 KCNE5 KCNJ13 KCNJ18 KCNJ6 KCNMA1 KCNQ3 KCNV2 KDM1A KDM5B KDM5C KDM6A KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIAA1549 KIDINS220 KIF11 KIF14 KIF1A KIF1C KIF21A KIF2A KIF5A KIF7 KISS1R KIZ KLC2 KLF13 KLHL40 KLHL41 KLHL7 KMT2A KMT2B KMT2D KRAS KRT14 KRT25 KRT5 KRT71 KRT74 L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMB2 LARGE1 LBR LCA5 LEMD3 LETM1 LGI4 LIG4 LIM2 LIMK1 LIPH LIPT1 LMNB1 LMOD3 LONP1 LPAR6 LRAT LRIT3 LRMDA LRP4 LRP5 LRPPRC LYRM7 LYST LZTFL1 LZTR1 MAB21L2 MAD2L2 MAF MAFB MAG MAGEL2 MAK MAN2B1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPT MARS2 MASP1 MBD5 MBTPS2 MC1R MCM3AP MCOLN1 MCTP2 MDH2 MECR MED12 MED13L MED25 MEF2C MEN1 MERTK MFF MFN2 MFRP MGME1 MICOS13 MICU1 MID2 MITF MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMACHC MMADHC MME MOCS1 MOCS2 MPC1 MPDU1 MPDZ MPLKIP MPV17 MPZ MRE11 MRPS34 MTFMT MTM1 MTMR14 MTOR MTPAP MTR MTRR MUSK MVK MYF5 MYF6 MYH2 MYH3 MYH7 MYL2 MYMK MYO5A MYO7A MYO9A NAA10 NADK2 NAGA NALCN NANS NARS2 NAXE NBAS ND1 ND4 ND5 ND6 NDN NDP NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEDD4L NEFL NEK2 NELFA NEU1 NEXMIF NFIX NGLY1 NHLRC2 NHS NIPBL NKX6-2 NME1 NMNAT1 NODAL NOG NONO NOP56 NOTCH1 NPAP1 NPC1 NPC2 NPHP1 NPHP4 NR2E3 NR2F1 NRAS NRL NRXN1 NSD1 NSD2 NSDHL NSMF NSUN2 NT5C2 NTRK2 NUBPL NUP62 NUS1 NXN NYX OCA2 OCLN OCRL OFD1 OGT OPA1 OPA3 OPHN1 OPN1LW OPN1MW ORC1 OSGEP OTX2 PABPN1 PACS1 PACS2 PAH PAK1 PALB2 PAX2 PAX3 PAX6 PBX1 PCARE PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDGFRB PDHA1 PDHX PDP1 PDYN PDZD7 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHF21A PHF6 PHGDH PHIP PHOX2A PHOX2B PHYH PIBF1 PIEZO2 PIGL PIGN PIGS PIGT PIGY PIK3R5 PITX2 PITX3 PLA2G6 PLAA PLD3 PLEC PLEKHG2 PLK4 PLP1 PLPBP PLXND1 PMM2 PMP22 PMPCA PNKP PNPLA6 PNPO PNPT1 POC1B POGZ POLG POLG2 POLR1C POLR1D POLR3A POLR3B POMGNT1 POMT1 POMT2 PORCN POU3F4 PPM1D PPP2R2B PPP2R5D PPP3CA PQBP1 PRCD PRDM16 PRDX1 PRKAR1A PRKCG PRKD1 PRMT7 PRNP PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRT2 PRSS12 PRSS56 PRX PSAP PSEN1 PSEN2 PSMD12 PTCH1 PTCH2 PTEN PTPN11 PTPN22 PTRH2 PUF60 PURA PUS3 PWAR1 PWRN1 PYCR2 RAB11B RAB18 RAB39B RAD21 RAD51 RAD51C RAF1 RAI1 RANBP2 RAP1A RAP1B RAPSN RARS RASA2 RBM8A RBP3 RBPJ RD3 RDH12 RECQL4 REEP6 RERE RET REV3L RFC2 RFWD3 RGR RHO RIT1 RLBP1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF135 RNF216 RNU12 RNU4ATAC ROBO3 ROM1 ROR2 RORA RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPS19 RPS6KA3 RRAS RREB1 RRM2B RS1 RSPRY1 RTN4IP1 RUBCN RYR1 SACS SAG SALL1 SALL2 SALL4 SAMD9L SAMHD1 SATB2 SBF1 SCAPER SCN1A SCN3A SCN4A SCN8A SCO2 SCP2 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SEC23A SEC24C SELENON SEMA3A SEMA3E SEMA4A SERPINI1 SETD2 SETD5 SETX SGPL1 SH2B1 SH3TC2 SHANK3 SHH SHOC2 SHROOM4 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC24A1 SLC24A5 SLC25A1 SLC25A20 SLC25A24 SLC25A4 SLC25A46 SLC29A3 SLC2A1 SLC2A10 SLC30A9 SLC33A1 SLC35A1 SLC35A2 SLC38A8 SLC39A8 SLC45A2 SLC4A11 SLC52A2 SLC52A3 SLC5A7 SLC6A19 SLC6A3 SLC6A8 SLC7A14 SLC9A1 SLC9A6 SLX4 SMAD3 SMAD4 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SNAP25 SNAP29 SNCA SNIP1 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SNX10 SNX14 SOBP SON SORL1 SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SOX5 SPAST SPATA5 SPATA7 SPECC1L SPEG SPG11 SPG7 SPR SPRY4 SPTBN2 SQSTM1 SRCAP SRD5A3 SRY SSR4 STIM1 STRADA STT3A STUB1 STX16 STXBP1 SUCLA2 SUFU SURF1 SYNE1 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACO1 TACR3 TAF1 TAF2 TARDBP TAT TBC1D23 TBC1D24 TBK1 TBL1XR1 TBL2 TBP TBX1 TBX15 TBX4 TCF12 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TENM3 TFAP2A TFAP2B TGFB3 TGFBI TGFBR1 TGFBR2 TGFBR3 TGIF1 TGM6 TINF2 TK2 TLK2 TMCO1 TMEM106B TMEM107 TMEM126A TMEM138 TMEM216 TMEM231 TMEM237 TMEM240 TMEM67 TMEM94 TMEM98 TNFRSF11A TNFSF11 TOE1 TOMM40 TOP3A TOPORS TPM2 TPM3 TPP1 TRAF3IP1 TRAK1 TRAPPC11 TRAPPC6B TREM2 TREX1 TRIM32 TRIM37 TRIM44 TRIP12 TRIT1 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TRPM1 TRPV4 TSEN15 TSEN54 TSPYL1 TTBK2 TTC19 TTC8 TTI2 TTN TTPA TTR TUB TUBB2B TUBB3 TUBB4A TUBGCP4 TUBGCP6 TUFM TULP1 TWIST1 TWIST2 TWNK TYMP TYR TYROBP TYRP1 UBA1 UBA5 UBE2T UBE3A UBE3B UBR1 UCHL1 UFC1 UFD1 UGT1A1 UNC80 UROC1 USH2A USP8 USP9X VAMP1 VARS2 VCP VHL VLDLR VMA21 VPS13A VPS13B VPS13D VWA3B WAC WARS2 WDPCP WDR11 WDR19 WDR26 WDR35 WDR45 WDR48 WDR73 WDR81 WFS1 WHCR WHRN WNT5A WT1 WWOX XPA XPC XRCC1 XRCC2 XRCC4 XYLT2 YAP1 YARS2 YME1L1 YWHAG YY1 ZBTB16 ZC4H2 ZDHHC9 ZEB2 ZFYVE26 ZIC1 ZIC2 ZNF408 ZNF423 ZNF513 ZNHIT3 ZSWIM6

Diseases (1284) :271980 293168 617622 1171 307 488594 1941 209951 157846 25 233910 601536 143100 615846 435628 616490 2836 617284 257920 618249 312170 245349 79096 604326 139406 792 352649 97229 66631 300966 2753 614815 329284 300894 1020 101109 313772 614487 610246 98913 220493 475 608629 208920 612291 618161 101 98755 183090 617120 261330 115150 289560 618087 79102 216360 1454 616781 617761 610188 614464 254210 608930 601462 605809 608931 98915 603034 550 614615 397715 615636 453521 363710 251880 245348 614388 254300 614678 171629 95 230900 352641 610542 309246 616204 324262 233400 248111 615630 213300 208513 616728 617822 101010 79399 615960 617041 260540 617121 251347 604391 618198 220497 609583 137902 614867 64753 615217 616267 70595 447896 397 88619 618060 611560 607323 99734 682 604377 613724 606002 300523 617595 617143 612716 617145 412057 617757 284271 259700 617562 617563 614465 608091 2752 614970 610688 614969 284324 2770 610031 300570 618076 310440 617633 3454 314580 648 442835 616339 615889 791 827 2802 240800 612674 98907 275630 614559 2971 264470 86818 171433 2020 171430 255310 615688 1885 51 615010 617008 606854 231178 615873 618170 103050 1369 212350 98914 618276 260600 2965 65 744 616603 219150 601162 3006 613661 324422 79326 607906 601110 603147 64 203800 607225 606353 391474 228390 52022 231160 251066 2332 261250 284289 613728 478 2067 230740 1568 608233 284804 617050 280763 613744 612936 3258 821 974 617523 1465 135900 110 3157 567 2508 300004 333 99803 271900 97297 605039 615485 496790 617183 94122 601238 616517 100 208900 125370 513436 306674 606693 617225 569 104290 614820 601338 314978 302500 615228 644 551500 357074 219200 617402 1766 210600 164400 98761 603516 98756 109150 94147 164500 98760 608768 615834 588 709 261540 609195 904 209900 369939 300475 617101 568 256000 893 217012 193220 169186 255200 139471 607932 617755 99872 1340 618056 84 617333 257300 320375 613559 615035 275872 105550 613227 610427 215 97 617106 108500 141500 183086 618285 178333 300476 300600 458803 616795 617798 617799 314647 614756 616907 163937 300749 606721 2318 612285 616816 211750 1308 617063 616910 1299 91347 1897 1573 617360 280200 613823 614845 617236 615862 602271 616579 618205 138 614961 233 199318 612001 616313 616322 616324 2990 601776 3463 300114 667 248250 2196 248190 256731 411493 615803 216900 217080 1873 263501 613489 560 1427 1571 267750 94068 607595 265050 607426 139485 540000 255241 2754 277170 194190 600105 1377 604219 611544 604307 615502 48431 604168 617572 615075 250800 708 100986 270800 615945 857 615281 611105 610048 300067 910 320380 615033 614507 819 329314 35107 602398 818 270400 246 617804 305000 268882 300850 273 617384 615528 314404 614219 608093 618027 608799 615042 274270 614076 3107 289 614924 617330 302960 616277 277580 101112 609306 304110 145900 85282 300148 194050 1955 133190 423296 615957 1493 242840 617951 610758 220295 601675 278760 214150 133540 216400 207 611225 75857 615544 3103 617763 618065 616682 277590 612319 227650 227645 227646 600901 2833 2462 615471 618089 171695 260300 617717 915 305400 98764 609307 90024 101600 87 83 794 101200 1540 123500 101400 35098 93262 602849 617107 253800 2308 309350 320406 908 300623 250923 88632 610256 110100 613670 466688 616819 300983 616981 229300 1606 245200 256850 251071 615074 77260 77261 231005 608013 231000 320391 614409 613703 3250 609060 436274 2710 1175 302800 189 129500 320401 613206 307030 401866 616859 616835 615510 363623 615351 615352 3205 79443 94089 79444 103580 612462 612463 613856 488613 616973 617173 617810 54 614565 617864 617820 617691 614831 616943 601777 204000 616756 199 617268 615516 1422 250620 616881 617537 612109 238769 2438 203300 614072 614074 614075 3071 218040 163200 300438 261515 612233 800 600142 616007 615330 98771 1515 218330 266920 52055 270450 464 308300 613837 559 617404 309530 618088 616370 206700 606658 117360 118450 610443 457193 616268 98768 605259 98772 614186 79137 610356 618109 85279 300534 2322 147920 300867 616784 521390 617296 152950 617914 614255 135700 615411 617235 200990 609541 605130 3339 170 2182 303350 236792 301006 607855 614199 169400 604537 1306 280 235 615277 99027 169500 616165 1458 613341 615058 615179 2790 220111 615838 167 214500 615877 459056 616680 248500 615279 615280 157800 601104 2273 79432 618124 578 252650 1596 617339 617282 305450 616789 616449 228384 601152 35612 67047 401768 615673 300928 103470 277400 277410 497764 617018 252150 252160 609180 615219 234050 256810 617664 614947 616638 254343 613672 250940 2169 236270 616325 610377 605637 2053 193700 1358 254940 79476 33445 431361 616034 79279 79281 609241 615419 610442 616239 617186 614800 649 190 305390 618236 618233 618237 618238 300952 618226 618228 252010 618232 618225 618229 617201 617882 812 256550 614753 615273 618278 627 302350 122470 527497 617560 256700 608553 186500 300967 276198 614153 615722 614325 117550 300831 611091 613162 617830 618242 1507 203200 251290 534 300997 210000 125250 1215 165500 67036 137831 300486 303700 224690 617729 270 615009 618067 2209 1475 894 35737 2253 106210 120200 604229 617641 85167 608940 613093 610024 615007 608782 101108 610245 912 772 44 214100 247815 614871 614920 614877 614872 617370 95433 614863 773 266500 127 301900 601815 617991 1154 114300 248700 108145 3474 614080 618143 615398 616809 180500 199351 35069 256600 610217 612953 521426 617527 617770 257 616763 2518 99015 312080 312920 570 212065 1170 213200 2377 1173 245800 275400 614932 615973 616364 94125 607459 861 607694 264090 613151 253280 613156 2092 305600 1435 617450 616355 309500 101800 98763 605361 617364 617157 157941 282166 137440 123400 301835 249500 617516 77301 377 109400 151100 616158 617051 616420 617807 614222 2379 438114 616140 274000 610612 1225 218600 268400 616975 175 610329 612951 137634 512260 1824 2744 613794 304020 608611 105650 192 616723 616732 404499 615705 597 424107 270550 216820 959 2307 147750 2585 159550 251019 615284 99735 99736 466794 3208 252011 604218 615761 617575 261197 601596 48652 606232 607721 300434 248800 171829 94065 613406 212550 182212 1496 604369 269920 617239 249270 607483 612656 370097 113750 159 2963 2095 616505 1782 71277 606777 608885 3342 614482 603585 300896 609218 616721 79435 606574 1490 614707 2116 613135 616291 85278 300243 139210 614501 616354 500150 617140 269500 163746 609136 611584 616803 182601 616577 604232 1519 145410 615959 2822 99013 607259 352403 600224 615386 2044 136140 612379 1772 370927 300934 611087 370921 615768 612073 610743 615530 618218 614229 615599 28378 79500 602342 607136 93333 261279 615314 2896 610954 154500 616654 1297 113620 46627 169100 121900 608470 276193 268130 618050 1394 213980 617964 612989 614424 98773 607454 613550 618316 612301 609270 616629 369847 615356 617862 225750 253250 617752 613216 606071 617026 277470 168593 98767 604432 615157 615541 96 105210 614039 600638 612438 616335 251270 610678 613843 600132 180750 1807 1186 271245 616138 79431 79434 606952 203100 79433 203290 1145 617133 105830 2707 244450 243800 615491 79234 616801 276880 401795 300968 251282 108600 892 224050 2388 193 607317 616948 616708 617710 617616 401800 251300 610185 222300 284282 616541 85194 605822 1473 613561 617302 617557 612447 300799 235730 100996 270700 616602 617308 604393 447753 300884 49382 221900 276241 276244 276238 169189 614077 614171 98758 211067 613855 423275 211380 98933 227510 613835 613829 168605 615156 160150 2514 158900 310700 2072 98808 330054 608804 300814 300500 363432 614504 300915 614073 607346 397946 611302 608840 2788 314603 611390 617086 614741 596 310400 618155 257220 607625 606996 320396 271930 618158 136520 616716 280633 610090 254886 254892 298 614381 616479 607313 613826 612075 98905 255320 614198 614306 209967 211530 604360 160565 612164 616684 94124 615145 225 614322 201470 610006 225154 615286 88618 615829 608776 300990 100300 300215 314632 480 309580 245600 300166 117210 617713 300707 616737 604356 262300 154780 75840 175780 172870 180849 300536 617070 352470 616875 154700 616482 614619 464282 5 176270 614744 617468 601813 615547 156200 352447 615084 85277 300912 202370 79351 602078 157640 258450 603041 613662 610131 616263 508488 329336 613077 98 107480 521411 607812 609283 300352 613795 613671 313892 617695 188400 615582 609192 610168 254875 617069 602152 618098 369840 617873 1349 663 254857 609286 210128 615917 617865 611182
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.