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Požymis
Clubbing of fingers and toes
Klinikinis pavadinimas: Clubbing
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Santrauka
- Taip pat vadinama
- Digital clubbing
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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/clubbing.json"
page <- fromJSON(url)
page$trait$nameClubbing of fingers and toesHP:0001217
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiPradėtinuo 449 $
Vienu tyrimu sužinokite genus, susijusius su Clubbing of fingers and toes, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test103 genų susiję su Clubbing of fingers and toes
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Clubbing of fingers and toes. 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 |
|---|---|---|
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| HPGD15-hydroxyprostaglandin dehydrogenase | Visada | 3 ligose |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 1 ligoje |
| MALT1MALT1 paracaspase | Visada | 1 ligoje |
| POT1protection of telomeres 1 | Visada | 1 ligoje |
| VPS51VPS51 subunit of GARP complex | Visada | 1 ligoje |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Labai dažnai (80–99%) | 2 ligose |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Dažnai (30–79%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 2 ligose |
| IRF1interferon regulatory factor 1 | Dažnai (30–79%) | 1 ligoje |
| KRT1keratin 1 | Dažnai (30–79%) | 1 ligoje |
| KRT16keratin 16 | Dažnai (30–79%) | 1 ligoje |
| KRT9keratin 9 | Dažnai (30–79%) | 1 ligoje |
| LIFRLIF receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| RNF31ring finger protein 31 | Dažnai (30–79%) | 1 ligoje |
| SFTPA1surfactant protein A1 | Dažnai (30–79%) | 1 ligoje |
| SFTPCsurfactant protein C | Dažnai (30–79%) | 1 ligoje |
| SMAD4SMAD family member 4 | Dažnai (30–79%) | 2 ligose |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ABCA12ATP binding cassette subfamily A member 12 | Kartais (5–29%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Kartais (5–29%) | 1 ligoje |
| BRWD1bromodomain and WD repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Kartais (5–29%) | 1 ligoje |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Kartais (5–29%) | 1 ligoje |
| CCNOcyclin O | Kartais (5–29%) | 1 ligoje |
| CDC45cell division cycle 45 | Kartais (5–29%) | 1 ligoje |
| CFAP221cilia and flagella associated protein 221 | Kartais (5–29%) | 1 ligoje |
| CFAP298cilia and flagella associated protein 298 | Kartais (5–29%) | 1 ligoje |
| CFAP300cilia and flagella associated protein 300 | Kartais (5–29%) | 1 ligoje |
| CFAP74cilia and flagella associated protein 74 | Kartais (5–29%) | 1 ligoje |
| CLXNcalaxin | Kartais (5–29%) | 1 ligoje |
| DAW1dynein assembly factor with WD repeats 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DNAAF1dynein axonemal assembly factor 1 | Kartais (5–29%) | 1 ligoje |
| DNAAF11dynein axonemal assembly factor 11 | Kartais (5–29%) | 1 ligoje |
| DNAAF19dynein axonemal assembly factor 19 | Kartais (5–29%) | 1 ligoje |
| DNAAF2dynein axonemal assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| DNAAF3dynein axonemal assembly factor 3 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 63 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DNAAF4dynein axonemal assembly factor 4 | Kartais (5–29%) | 1 ligoje |
| DNAAF5dynein axonemal assembly factor 5 | Kartais (5–29%) | 1 ligoje |
| DNAAF6dynein axonemal assembly factor 6 | Kartais (5–29%) | 1 ligoje |
| DNAH1dynein axonemal heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| DNAH11dynein axonemal heavy chain 11 | Kartais (5–29%) | 1 ligoje |
| DNAH5dynein axonemal heavy chain 5 | Kartais (5–29%) | 1 ligoje |
| DNAH7dynein axonemal heavy chain 7 | Kartais (5–29%) | 1 ligoje |
| DNAH9dynein axonemal heavy chain 9 | Kartais (5–29%) | 1 ligoje |
| DNAI1dynein axonemal intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| DNAI2dynein axonemal intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Kartais (5–29%) | 1 ligoje |
| DNAL1dynein axonemal light chain 1 | Kartais (5–29%) | 1 ligoje |
| DRC1dynein regulatory complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| DRC2dynein regulatory complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| DRC4dynein regulatory complex subunit 4 | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FOXJ1forkhead box J1 | Kartais (5–29%) | 1 ligoje |
| GAS2L2growth arrest specific 2 like 2 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| HYDINHYDIN axonemal central pair apparatus protein | Kartais (5–29%) | 1 ligoje |
| LRRC56leucine rich repeat containing 56 | Kartais (5–29%) | 1 ligoje |
| MARS1methionyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NEK10NIMA related kinase 10 | Kartais (5–29%) | 1 ligoje |
| NME5NME/NM23 family member 5 | Kartais (5–29%) | 1 ligoje |
| NME8NME/NM23 family member 8 | Kartais (5–29%) | 1 ligoje |
| ODAD1outer dynein arm docking complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ODAD2outer dynein arm docking complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| ODAD3outer dynein arm docking complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ODAD4outer dynein arm docking complex subunit 4 | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Kartais (5–29%) | 1 ligoje |
| RSPH1radial spoke head component 1 | Kartais (5–29%) | 1 ligoje |
| RSPH3radial spoke head 3 | Kartais (5–29%) | 1 ligoje |
| RSPH4Aradial spoke head component 4A | Kartais (5–29%) | 1 ligoje |
| RSPH9radial spoke head component 9 | Kartais (5–29%) | 1 ligoje |
| SPAG1sperm associated antigen 1 | Kartais (5–29%) | 1 ligoje |
| SPEF2sperm flagellar and cilia associated 2 | Kartais (5–29%) | 1 ligoje |
| STK36serine/threonine kinase 36 | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TCF4transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TTC12tetratricopeptide repeat domain 12 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZMYND10zinc finger MYND-type containing 10 | Kartais (5–29%) | 1 ligoje |
| CFTRCF transmembrane conductance regulator | Retai (1–4 %) | 1 ligoje |
| SCNN1Asodium channel epithelial 1 subunit alpha | Retai (1–4 %) | 1 ligoje |
| SCNN1Bsodium channel epithelial 1 subunit beta | Retai (1–4 %) | 1 ligoje |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Retai (1–4 %) | 1 ligoje |
| ABCA3ATP binding cassette subfamily A member 3 | Neužfiksuota | 1 ligoje |
| ACVRL1activin A receptor like type 1 | Neužfiksuota | 1 ligoje |
| BTNL2butyrophilin like 2 | Neužfiksuota | 1 ligoje |
| CD55CD55 molecule (Cromer blood group) | Neužfiksuota | 1 ligoje |
| ENGendoglin | Neužfiksuota | 1 ligoje |
| FLNBfilamin B | Neužfiksuota | 1 ligoje |
| SFTPBsurfactant protein B | Neužfiksuota | 1 ligoje |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Neužfiksuota | 1 ligoje |
| STK11serine/threonine kinase 11 | 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.
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