Požymis
Wide nose
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Santrauka
- Taip pat vadinama
- Broad nose, Increased breadth of nose, Increased nasal breadth, Increased nasal width, Increased width of nose
- Kūno sistema
- Abnormality of head or neck
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/wide-nose.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Wide nose, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test137 genų susiję su Wide nose
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Wide nose. 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 |
| CCNQcyclin Q | Visada | 1 ligoje |
| CDH11cadherin 11 | Visada | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Visada | 1 ligoje |
| GPC4glypican 4 | Visada | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Visada | 2 ligose |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Visada | 2 ligose |
| PPFIA3PPFI scaffold protein A3 | Visada | 1 ligoje |
| PRRX1paired related homeobox 1 | Visada | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Visada | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Visada | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Visada | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Visada | 1 ligoje |
| VPS53VPS53 subunit of GARP complex | Visada | 1 ligoje |
| WLSWnt ligand secretion mediator | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 1 ligoje |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Labai dažnai (80–99%) | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Labai dažnai (80–99%) | 1 ligoje |
| CLCF1cardiotrophin like cytokine factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Labai dažnai (80–99%) | 2 ligose |
| DVL1dishevelled segment polarity protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| GPR101G protein-coupled receptor 101 | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Labai dažnai (80–99%) | 2 ligose |
| MGPmatrix Gla protein | Labai dažnai (80–99%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| SEC23ASEC23 homolog A, COPII component | Labai dažnai (80–99%) | 1 ligoje |
| TCTN3tectonic family member 3 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 97 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TMCO1transmembrane and coiled-coil domains 1 | Labai dažnai (80–99%) | 2 ligose |
| TRIM37tripartite motif containing 37 | Labai dažnai (80–99%) | 1 ligoje |
| WNT5AWnt family member 5A | Labai dažnai (80–99%) | 1 ligoje |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Labai dažnai (80–99%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Dažnai (30–79%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Dažnai (30–79%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Dažnai (30–79%) | 1 ligoje |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Dažnai (30–79%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Dažnai (30–79%) | 1 ligoje |
| GON4Lgon-4 like | Dažnai (30–79%) | 1 ligoje |
| HCCSholocytochrome c synthase | Dažnai (30–79%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Dažnai (30–79%) | 1 ligoje |
| IL11RAinterleukin 11 receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Dažnai (30–79%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Dažnai (30–79%) | 3 ligose |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Dažnai (30–79%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Dažnai (30–79%) | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Dažnai (30–79%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Dažnai (30–79%) | 1 ligoje |
| NOTCH2notch receptor 2 | Dažnai (30–79%) | 2 ligose |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Dažnai (30–79%) | 1 ligoje |
| POU4F1POU class 4 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| QRICH1glutamine rich 1 | Dažnai (30–79%) | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RELNreelin | Dažnai (30–79%) | 1 ligoje |
| RNF2ring finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Dažnai (30–79%) | 3 ligose |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Dažnai (30–79%) | 2 ligose |
| TWIST2twist family bHLH transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| WDR35WD repeat domain 35 | Dažnai (30–79%) | 1 ligoje |
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 2 ligose |
| ASPHaspartate beta-hydroxylase | Kartais (5–29%) | 1 ligoje |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kartais (5–29%) | 2 ligose |
| BUB3BUB3 mitotic checkpoint protein | Kartais (5–29%) | 1 ligoje |
| CEP57centrosomal protein 57 | Kartais (5–29%) | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 3 ligose |
| FREM2FRAS1 related extracellular matrix 2 | Kartais (5–29%) | 1 ligoje |
| HMGA2high mobility group AT-hook 2 | Kartais (5–29%) | 1 ligoje |
| INSRinsulin receptor | Kartais (5–29%) | 2 ligose |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| LEMD3LEM domain containing 3 | Kartais (5–29%) | 1 ligoje |
| LMBRD2LMBR1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 2 ligose |
| MEG3maternally expressed 3 | Kartais (5–29%) | 3 ligose |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Kartais (5–29%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Kartais (5–29%) | 1 ligoje |
| RNF125ring finger protein 125 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 3 ligose |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Kartais (5–29%) | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| WBP11WW domain binding protein 11 | Kartais (5–29%) | 1 ligoje |
| ACY1aminoacylase 1 | Retai (1–4 %) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Retai (1–4 %) | 1 ligoje |
| AVParginine vasopressin | Neužfiksuota | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Neužfiksuota | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Neužfiksuota | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Neužfiksuota | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Neužfiksuota | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Neužfiksuota | 1 ligoje |
| GDF5growth differentiation factor 5 | Neužfiksuota | 1 ligoje |
| HDAC4histone deacetylase 4 | Neužfiksuota | 1 ligoje |
| IDUAalpha-L-iduronidase | Neužfiksuota | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Neužfiksuota | 1 ligoje |
| NANSN-acetylneuraminate synthase | Neužfiksuota | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Neužfiksuota | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Neužfiksuota | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Neužfiksuota | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Neužfiksuota | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Neužfiksuota | 1 ligoje |
| STAMBPSTAM binding protein | Neužfiksuota | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Neužfiksuota | 1 ligoje |
| ZNF341zinc finger protein 341 | 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
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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