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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Damaged optic nerve
Klinikinis pavadinimas: Optic neuropathy
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/optic-neuropathy.json"
page <- fromJSON(url)
page$trait$nameDamaged optic nerveHP:0001138
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Damaged optic nerve, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test28 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Leigh SyndromeReads 24 of these genesFOXRED1MT-ND1MT-ND3NDUFA1NDUFA9NDUFAF2About this report →
- Primary Mitochondrial DiseaseReads 28 of these genesFOXRED1NDUFA1NDUFA11NDUFA6NDUFA9NDUFAF1About this report →
- Familial HypercholesterolemiaReads 4 of these genesAPOBLDLRLDLRAP1PCSK9About this report →
- HyperlipidemiaReads 6 of these genesABCG5ABCG8APOBLDLRLDLRAP1PCSK9About this report →
Show 24 more reports
- Hereditary Optic NeuropathyReads 4 of these genesMT-ND1MT-ND4MT-ND5MT-ND6About this report →
- GlaucomaReads 3 of these genesCYP1B1EFEMP1MYOCAbout this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- CherubismReads 1 of these genesSH3BP2About this report →
- Biotinidase & Holocarboxylase DeficiencyReads 1 of these genesBTDAbout this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Wolfram Syndrome & WFS1 SpectrumReads 1 of these genesCISD2About this report →
- Primary HyperoxaluriaReads 1 of these genesAGXTAbout this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesAPOBAbout this report →
- Hereditary Macular DystrophiesReads 1 of these genesEFEMP1About this report →
- Hereditary AmyloidosisReads 1 of these genesGSNAbout this report →
- Cutis LaxaReads 1 of these genesEFEMP1About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesGSNAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesCLCN2CYP27A1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesNDUFB11About this report →
- Spinal Muscular AtrophyReads 1 of these genesSPTAN1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesATN1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesWDR11About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesCYP27A1About this report →
- Lysosomal Storage DiseaseReads 1 of these genesCYP27A1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSPTAN1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesSPTAN1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesSPTAN1About this report →
- Intellectual DisabilityReads 1 of these genesWDR11About this report →
Vienu tyrimu sužinokite genus, susijusius su Damaged optic nerve, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test64 genų susiję su Damaged optic nerve
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Damaged optic nerve. 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 |
|---|---|---|
| FDXRferredoxin reductase | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Visada | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Labai dažnai (80–99%) | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM126Btransmembrane protein 126B | Labai dažnai (80–99%) | 1 ligoje |
| TXN2thioredoxin 2 | Labai dažnai (80–99%) | 2 ligose |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| CLCN2chloride voltage-gated channel 2 | Dažnai (30–79%) | 1 ligoje |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Dažnai (30–79%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 24 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Dažnai (30–79%) | 1 ligoje |
| MYOCmyocilin | Dažnai (30–79%) | 1 ligoje |
| WDR11WD repeat domain 11 | Dažnai (30–79%) | 1 ligoje |
| BTDbiotinidase | Kartais (5–29%) | 1 ligoje |
| GSNgelsolin | Kartais (5–29%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 1 ligoje |
| TMEM53transmembrane protein 53 | Kartais (5–29%) | 1 ligoje |
| ABCG5ATP binding cassette subfamily G member 5 | Retai (1–4 %) | 1 ligoje |
| ABCG8ATP binding cassette subfamily G member 8 | Retai (1–4 %) | 1 ligoje |
| APOBapolipoprotein B | Retai (1–4 %) | 1 ligoje |
| LDLRlow density lipoprotein receptor | Retai (1–4 %) | 1 ligoje |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Retai (1–4 %) | 1 ligoje |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Retai (1–4 %) | 1 ligoje |
| AGXTalanine--glyoxylate aminotransferase | Neužfiksuota | 1 ligoje |
| CISD2CDGSH iron sulfur domain 2 | Neužfiksuota | 1 ligoje |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Neužfiksuota | 1 ligoje |
| SH3BP2SH3 domain binding protein 2 | Neužfiksuota | 1 ligoje |
| TSFMTs translation elongation factor, mitochondrial | 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 2026.10.17-8666dff2.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 470+ physician-ready reports.
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