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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Optic disc drusen
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
Santrauka
- Taip pat vadinama
- Optic nerve head drusen
- Kūno sistema
- Abnormality of the eye
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/optic-disc-drusen.json"
page <- fromJSON(url)
page$trait$nameOptic disc drusenHP:0012426
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Optic disc drusen, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test119 genų susiję su Optic disc drusen
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Optic disc drusen. 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 |
|---|---|---|
| IFT172intraflagellar transport 172 | Visada | 2 ligose |
| MFRPmembrane frizzled-related protein | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| ABCA4ATP binding cassette subfamily A member 4 | Dažnai (30–79%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Dažnai (30–79%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Dažnai (30–79%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Dažnai (30–79%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 2 ligose |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Dažnai (30–79%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Dažnai (30–79%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Dažnai (30–79%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 1 ligoje |
| BEST1bestrophin 1 | Dažnai (30–79%) | 1 ligoje |
| CA4carbonic anhydrase 4 | Dažnai (30–79%) | 1 ligoje |
| CABP4calcium binding protein 4 | Dažnai (30–79%) | 2 ligose |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Dažnai (30–79%) | 1 ligoje |
| CERKLCERK like autophagy regulator | Dažnai (30–79%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 1 ligoje |
| CLRN1clarin 1 | Dažnai (30–79%) | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Dažnai (30–79%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Dažnai (30–79%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Dažnai (30–79%) | 2 ligose |
| CRXcone-rod homeobox | Dažnai (30–79%) | 2 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Dažnai (30–79%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Dažnai (30–79%) | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Dažnai (30–79%) | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 1 ligoje |
| GUCA1Bguanylate cyclase activator 1B | Dažnai (30–79%) | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| HKDC1hexokinase domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Dažnai (30–79%) | 2 ligose |
Rodyti dar 79 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT88intraflagellar transport 88 | Dažnai (30–79%) | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Dažnai (30–79%) | 2 ligose |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Dažnai (30–79%) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Dažnai (30–79%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Dažnai (30–79%) | 2 ligose |
| KIAA1549KIAA1549 | Dažnai (30–79%) | 1 ligoje |
| KIZkizuna centrosomal protein | Dažnai (30–79%) | 1 ligoje |
| KLHL7kelch like family member 7 | Dažnai (30–79%) | 1 ligoje |
| LCA5lebercilin LCA5 | Dažnai (30–79%) | 2 ligose |
| LRATlecithin retinol acyltransferase | Dažnai (30–79%) | 3 ligose |
| MAKmale germ cell associated kinase | Dažnai (30–79%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Dažnai (30–79%) | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Dažnai (30–79%) | 1 ligoje |
| NRLneural retina leucine zipper | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Dažnai (30–79%) | 2 ligose |
| PCAREphotoreceptor cilium actin regulator | Dažnai (30–79%) | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Dažnai (30–79%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Dažnai (30–79%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| PRCDphotoreceptor disc component | Dažnai (30–79%) | 1 ligoje |
| PROM1prominin 1 | Dažnai (30–79%) | 1 ligoje |
| PRPF3pre-mRNA processing factor 3 | Dažnai (30–79%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Dažnai (30–79%) | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Dažnai (30–79%) | 1 ligoje |
| PRPF6pre-mRNA processing factor 6 | Dažnai (30–79%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Dažnai (30–79%) | 2 ligose |
| PRPH2peripherin 2 | Dažnai (30–79%) | 3 ligose |
| RBP3retinol binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Dažnai (30–79%) | 2 ligose |
| REEP6receptor accessory protein 6 | Dažnai (30–79%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Dažnai (30–79%) | 1 ligoje |
| RHOrhodopsin | Dažnai (30–79%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Dažnai (30–79%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Dažnai (30–79%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Dažnai (30–79%) | 1 ligoje |
| RP1L1RP1 like 1 | Dažnai (30–79%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Dažnai (30–79%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Dažnai (30–79%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Dažnai (30–79%) | 3 ligose |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 1 ligoje |
| SAGS-antigen visual arrestin | Dažnai (30–79%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Dažnai (30–79%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 1 ligoje |
| SLC7A14solute carrier family 7 member 14 | Dažnai (30–79%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Dažnai (30–79%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Dažnai (30–79%) | 3 ligose |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Dažnai (30–79%) | 1 ligoje |
| TULP1TUB like protein 1 | Dažnai (30–79%) | 2 ligose |
| USH2Ausherin | Dažnai (30–79%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Dažnai (30–79%) | 1 ligoje |
| ZNF513zinc finger protein 513 | Dažnai (30–79%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Kartais (5–29%) | 1 ligoje |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Kartais (5–29%) | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | Kartais (5–29%) | 2 ligose |
| IQCB1IQ motif containing B1 | Kartais (5–29%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Kartais (5–29%) | 1 ligoje |
| RD3RD3 regulator of GUCY2D | Kartais (5–29%) | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| TMEM98transmembrane protein 98 | Kartais (5–29%) | 1 ligoje |
| TUBB4Btubulin beta 4B class IVb | Kartais (5–29%) | 1 ligoje |
| USP45ubiquitin specific peptidase 45 | Kartais (5–29%) | 1 ligoje |
| ABCC6ATP binding cassette subfamily C member 6 | Neužfiksuota | 1 ligoje |
| XYLT1xylosyltransferase 1 | Neužfiksuota | 1 ligoje |
| XYLT2xylosyltransferase 2 | 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.
Platesni požymiai
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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 2026.10.17-8666dff2.
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PrisijungtiKlaustiSekvenuokite savo genomą↗
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Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites