Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Photopsia, and the rest of your genome, with one test.
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Įsigyti savo Genome Test103 genų susiję su Photopsia
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Photopsia. 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 |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Dažnai (30–79%) | 2 ligose |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Dažnai (30–79%) | 2 ligose |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 1 ligoje |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Dažnai (30–79%) | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Dažnai (30–79%) | 1 ligoje |
| PROM1prominin 1 | Dažnai (30–79%) | 2 ligose |
| PRPH2peripherin 2 | Dažnai (30–79%) | 2 ligose |
| PRRT2proline rich transmembrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Dažnai (30–79%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Kartais (5–29%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Kartais (5–29%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Kartais (5–29%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Kartais (5–29%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Kartais (5–29%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Kartais (5–29%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Kartais (5–29%) | 1 ligoje |
| BEST1bestrophin 1 | Kartais (5–29%) | 1 ligoje |
| CA4carbonic anhydrase 4 | Kartais (5–29%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Kartais (5–29%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Kartais (5–29%) | 1 ligoje |
| CERKLCERK like autophagy regulator | Kartais (5–29%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Kartais (5–29%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Kartais (5–29%) | 1 ligoje |
| CLRN1clarin 1 | Kartais (5–29%) | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Kartais (5–29%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Kartais (5–29%) | 1 ligoje |
| CRXcone-rod homeobox | Kartais (5–29%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Kartais (5–29%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Kartais (5–29%) | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Kartais (5–29%) | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Kartais (5–29%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Kartais (5–29%) | 1 ligoje |
| GUCA1Bguanylate cyclase activator 1B | Kartais (5–29%) | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Kartais (5–29%) | 2 ligose |
| HKDC1hexokinase domain containing 1 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 63 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Kartais (5–29%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Kartais (5–29%) | 1 ligoje |
| IFT88intraflagellar transport 88 | Kartais (5–29%) | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Kartais (5–29%) | 1 ligoje |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Kartais (5–29%) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| KIAA1549KIAA1549 | Kartais (5–29%) | 1 ligoje |
| KIZkizuna centrosomal protein | Kartais (5–29%) | 1 ligoje |
| KLHL7kelch like family member 7 | Kartais (5–29%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Kartais (5–29%) | 1 ligoje |
| MAKmale germ cell associated kinase | Kartais (5–29%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Kartais (5–29%) | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Kartais (5–29%) | 1 ligoje |
| NRLneural retina leucine zipper | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Kartais (5–29%) | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Kartais (5–29%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Kartais (5–29%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Kartais (5–29%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kartais (5–29%) | 1 ligoje |
| PRCDphotoreceptor disc component | Kartais (5–29%) | 1 ligoje |
| PRPF3pre-mRNA processing factor 3 | Kartais (5–29%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Kartais (5–29%) | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Kartais (5–29%) | 1 ligoje |
| PRPF6pre-mRNA processing factor 6 | Kartais (5–29%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Kartais (5–29%) | 1 ligoje |
| RBP3retinol binding protein 3 | Kartais (5–29%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Kartais (5–29%) | 1 ligoje |
| REEP6receptor accessory protein 6 | Kartais (5–29%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Kartais (5–29%) | 1 ligoje |
| RHOrhodopsin | Kartais (5–29%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Kartais (5–29%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Kartais (5–29%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Kartais (5–29%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Kartais (5–29%) | 1 ligoje |
| RP1L1RP1 like 1 | Kartais (5–29%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Kartais (5–29%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Kartais (5–29%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Kartais (5–29%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Kartais (5–29%) | 1 ligoje |
| SAGS-antigen visual arrestin | Kartais (5–29%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Kartais (5–29%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Kartais (5–29%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Kartais (5–29%) | 1 ligoje |
| SLC7A14solute carrier family 7 member 14 | Kartais (5–29%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Kartais (5–29%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Kartais (5–29%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Kartais (5–29%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Kartais (5–29%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Kartais (5–29%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Kartais (5–29%) | 1 ligoje |
| TULP1TUB like protein 1 | Kartais (5–29%) | 1 ligoje |
| USH2Ausherin | Kartais (5–29%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Kartais (5–29%) | 1 ligoje |
| ZNF513zinc finger protein 513 | Kartais (5–29%) | 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.
Platesni požymiai
Iš kur tai žinoma
- 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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