Požymis
Horizontal nystagmus
Nystagmus consisting of horizontal to-and-fro eye movements.
Santrauka
- Taip pat vadinama
- Nystagmus, horizontal
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Horizontal nystagmus, and the rest of your genome, with one test.
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Įsigyti savo Genome Test105 genų susiję su Horizontal nystagmus
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Horizontal nystagmus. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AHRaryl hydrocarbon receptor | Visada | 1 ligoje |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Visada | 1 ligoje |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Visada | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Visada | 1 ligoje |
| ATG5autophagy related 5 | Visada | 1 ligoje |
| CCT3chaperonin containing TCP1 subunit 3 | Visada | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Visada | 1 ligoje |
| COQ5coenzyme Q5, methyltransferase | Visada | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Visada | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| EXOSC5exosome component 5 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GATA3GATA binding protein 3 | Visada | 1 ligoje |
| GMPPAGDP-mannose pyrophosphorylase A | Visada | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 1 ligoje |
| MMADHCmetabolism of cobalamin associated D | Visada | 1 ligoje |
| MRPL12mitochondrial ribosomal protein L12 | Visada | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Visada | 1 ligoje |
| PSAPprosaposin | Visada | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Visada | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Visada | 1 ligoje |
| XRCC1X-ray repair cross complementing 1 | Visada | 1 ligoje |
| GPR143G protein-coupled receptor 143 | Labai dažnai (80–99%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Labai dažnai (80–99%) | 2 ligose |
| MAB21L1mab-21 like 1 | Labai dažnai (80–99%) | 2 ligose |
| TTBK2tau tubulin kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| ALX4ALX homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Dažnai (30–79%) | 1 ligoje |
| COL18A1collagen type XVIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CWF19L1CWF19 like cell cycle control factor 1 | Dažnai (30–79%) | 1 ligoje |
| DAB1DAB adaptor protein 1 | Dažnai (30–79%) | 1 ligoje |
| DAGLAdiacylglycerol lipase alpha | Dažnai (30–79%) | 1 ligoje |
| EXOSC9exosome component 9 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 65 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FA2Hfatty acid 2-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Dažnai (30–79%) | 2 ligose |
| GRM6glutamate metabotropic receptor 6 | Dažnai (30–79%) | 1 ligoje |
| HMX1H6 family homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Dažnai (30–79%) | 1 ligoje |
| KIF5Akinesin family member 5A | Dažnai (30–79%) | 1 ligoje |
| KLC4kinesin light chain 4 | Dažnai (30–79%) | 1 ligoje |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 2 ligose |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Dažnai (30–79%) | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Dažnai (30–79%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Dažnai (30–79%) | 1 ligoje |
| RBL2RB transcriptional corepressor like 2 | Dažnai (30–79%) | 1 ligoje |
| SLC18A3solute carrier family 18 member A3 | Dažnai (30–79%) | 1 ligoje |
| SLC35B2solute carrier family 35 member B2 | Dažnai (30–79%) | 1 ligoje |
| SPTBN4spectrin beta, non-erythrocytic 4 | Dažnai (30–79%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Dažnai (30–79%) | 2 ligose |
| TPP1tripeptidyl peptidase 1 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Dažnai (30–79%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Dažnai (30–79%) | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Kartais (5–29%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Kartais (5–29%) | 1 ligoje |
| ANO10anoctamin 10 | Kartais (5–29%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Kartais (5–29%) | 1 ligoje |
| DPP6dipeptidyl peptidase like 6 | Kartais (5–29%) | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Kartais (5–29%) | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| IMPDH2inosine monophosphate dehydrogenase 2 | Kartais (5–29%) | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Kartais (5–29%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Kartais (5–29%) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Kartais (5–29%) | 2 ligose |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PET100PET100 cytochrome c oxidase chaperone | Kartais (5–29%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Kartais (5–29%) | 1 ligoje |
| PLP1proteolipid protein 1 | Kartais (5–29%) | 1 ligoje |
| SPTBN2spectrin beta, non-erythrocytic 2 | Kartais (5–29%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Kartais (5–29%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Kartais (5–29%) | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Kartais (5–29%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Kartais (5–29%) | 1 ligoje |
| TMEM126Atransmembrane protein 126A | Kartais (5–29%) | 1 ligoje |
| TTRtransthyretin | Kartais (5–29%) | 1 ligoje |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Neužfiksuota | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Neužfiksuota | 1 ligoje |
| FRMD7FERM domain containing 7 | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Neužfiksuota | 1 ligoje |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Neužfiksuota | 1 ligoje |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Neužfiksuota | 1 ligoje |
| SIX6SIX homeobox 6 | Neužfiksuota | 1 ligoje |
| SNIP1Smad nuclear interacting protein 1 | Neužfiksuota | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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