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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Outward facing eye ball
Klinikinis pavadinimas: Exotropia
A form of strabismus with one or both eyes deviated outward.
Santrauka
- 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/exotropia.json"
page <- fromJSON(url)
page$trait$nameOutward facing eye ballHP:0000577
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Outward facing eye ball, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test126 genų susiję su Outward facing eye ball
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Outward facing eye ball. 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| CBScystathionine beta-synthase | Visada | 1 ligoje |
| CDC42cell division cycle 42 | Visada | 2 ligose |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Visada | 2 ligose |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LIM2lens intrinsic membrane protein 2 | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| PAX6paired box 6 | Visada | 1 ligoje |
| PGM2L1phosphoglucomutase 2 like 1 | Visada | 1 ligoje |
| PRR12proline rich 12 | Visada | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Visada | 2 ligose |
| RNF2ring finger protein 2 | Visada | 1 ligoje |
| RP1L1RP1 like 1 | Visada | 1 ligoje |
| TMEM67transmembrane protein 67 | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 2 ligose |
| WT1WT1 transcription factor | Visada | 1 ligoje |
| COL25A1collagen type XXV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| KIF21Akinesin family member 21A | Labai dažnai (80–99%) | 2 ligose |
| MYF5myogenic factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| PHOX2Apaired like homeobox 2A | Labai dažnai (80–99%) | 2 ligose |
| TUBA1Atubulin alpha 1a | Labai dažnai (80–99%) | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Labai dažnai (80–99%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Labai dažnai (80–99%) | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Dažnai (30–79%) | 1 ligoje |
| ANKHANKH inorganic pyrophosphate transport regulator | Dažnai (30–79%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 1 ligoje |
| DNMBPdynamin binding protein | Dažnai (30–79%) | 1 ligoje |
| EXOC8exocyst complex component 8 | Dažnai (30–79%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 2 ligose |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 86 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| KDM1Alysine demethylase 1A | Dažnai (30–79%) | 2 ligose |
| LYRM7LYR motif containing 7 | Dažnai (30–79%) | 1 ligoje |
| MRPS34mitochondrial ribosomal protein S34 | Dažnai (30–79%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Dažnai (30–79%) | 1 ligoje |
| NAV3neuron navigator 3 | Dažnai (30–79%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SALL2spalt like transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Dažnai (30–79%) | 2 ligose |
| SLC1A3solute carrier family 1 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Dažnai (30–79%) | 1 ligoje |
| SOX5SRY-box transcription factor 5 | Dažnai (30–79%) | 1 ligoje |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Kartais (5–29%) | 1 ligoje |
| ADD3adducin 3 | Kartais (5–29%) | 1 ligoje |
| ADGRG1adhesion G protein-coupled receptor G1 | Kartais (5–29%) | 2 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| ARPC4actin related protein 2/3 complex subunit 4 | Kartais (5–29%) | 1 ligoje |
| BCORL1BCL6 corepressor like 1 | Kartais (5–29%) | 1 ligoje |
| CABP4calcium binding protein 4 | Kartais (5–29%) | 1 ligoje |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Kartais (5–29%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Kartais (5–29%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 1 ligoje |
| FBN1fibrillin 1 | Kartais (5–29%) | 1 ligoje |
| FDXRferredoxin reductase | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Kartais (5–29%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Kartais (5–29%) | 1 ligoje |
| LCA5lebercilin LCA5 | Kartais (5–29%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Kartais (5–29%) | 1 ligoje |
| LRMDAleucine rich melanocyte differentiation associated | Kartais (5–29%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Kartais (5–29%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Kartais (5–29%) | 1 ligoje |
| PRPH2peripherin 2 | Kartais (5–29%) | 1 ligoje |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 1 ligoje |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Kartais (5–29%) | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| RPL10ribosomal protein L10 | Kartais (5–29%) | 1 ligoje |
| SIAH1siah E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Kartais (5–29%) | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Kartais (5–29%) | 1 ligoje |
| THOC2THO complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Retai (1–4 %) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Retai (1–4 %) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Retai (1–4 %) | 1 ligoje |
| NGLY1N-glycanase 1 | Retai (1–4 %) | 1 ligoje |
| ACADSBacyl-CoA dehydrogenase short/branched chain | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| BCORBCL6 corepressor | Neužfiksuota | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Neužfiksuota | 1 ligoje |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Neužfiksuota | 1 ligoje |
| EFNB1ephrin B1 | Neužfiksuota | 1 ligoje |
| MC1Rmelanocortin 1 receptor | Neužfiksuota | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Neužfiksuota | 1 ligoje |
| SLC17A5solute carrier family 17 member 5 | Neužfiksuota | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Neužfiksuota | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Neužfiksuota | 1 ligoje |
| SMAD3SMAD family member 3 | Neužfiksuota | 1 ligoje |
| TBX1T-box transcription factor 1 | Neužfiksuota | 1 ligoje |
| TYRtyrosinase | Neužfiksuota | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | 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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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.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites