Požymis
Duplication of bones of the toes
Klinikinis pavadinimas: Foot polydactyly
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Santrauka
- Taip pat vadinama
- Polydactyly of feet, Polydactyly of the foot
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/foot-polydactyly.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Duplication of bones of the toes, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test78 genų susiję su Duplication of bones of the toes
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Duplication of bones of the 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 |
|---|---|---|
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Labai dažnai (80–99%) | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| GLI1GLI family zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Labai dažnai (80–99%) | 2 ligose |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| LMBR1limb development membrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 3 ligose |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Dažnai (30–79%) | 1 ligoje |
| ABCA12ATP binding cassette subfamily A member 12 | Kartais (5–29%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Kartais (5–29%) | 2 ligose |
| ARL13BARF like GTPase 13B | Kartais (5–29%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Kartais (5–29%) | 1 ligoje |
| B9D1B9 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| B9D2B9 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CBY1chibby 1, beta catenin antagonist | Kartais (5–29%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Kartais (5–29%) | 1 ligoje |
| CEP104centrosomal protein 104 | Kartais (5–29%) | 1 ligoje |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 2 ligose |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 1 ligoje |
| CEP41centrosomal protein 41 | Kartais (5–29%) | 2 ligose |
| COMTcatechol-O-methyltransferase | Kartais (5–29%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Kartais (5–29%) | 2 ligose |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| FAM149B1family with sequence similarity 149 member B1 | Kartais (5–29%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Kartais (5–29%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 2 ligose |
| JMJD1Cjumonji domain containing 1C | Kartais (5–29%) | 1 ligoje |
| KATNIPkatanin interacting protein | Kartais (5–29%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 38 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 2 ligose |
| KIF7kinesin family member 7 | Kartais (5–29%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 3 ligose |
| MMP23Bmatrix metallopeptidase 23B | Kartais (5–29%) | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Kartais (5–29%) | 2 ligose |
| PDPNpodoplanin | Kartais (5–29%) | 1 ligoje |
| PIBF1progesterone immunomodulatory binding factor 1 | Kartais (5–29%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Kartais (5–29%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TCTN1tectonic family member 1 | Kartais (5–29%) | 1 ligoje |
| TCTN2tectonic family member 2 | Kartais (5–29%) | 1 ligoje |
| TCTN3tectonic family member 3 | Kartais (5–29%) | 3 ligose |
| TMEM138transmembrane protein 138 | Kartais (5–29%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Kartais (5–29%) | 2 ligose |
| TMEM218transmembrane protein 218 | Kartais (5–29%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Kartais (5–29%) | 2 ligose |
| TMEM237transmembrane protein 237 | Kartais (5–29%) | 2 ligose |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Kartais (5–29%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Kartais (5–29%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Kartais (5–29%) | 1 ligoje |
| ZNF423zinc finger protein 423 | Kartais (5–29%) | 1 ligoje |
| HEPACAMhepatic and glial cell adhesion molecule | Retai (1–4 %) | 1 ligoje |
| PTENphosphatase and tensin homolog | Retai (1–4 %) | 1 ligoje |
| ARL6ARF like GTPase 6 | Neužfiksuota | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Neužfiksuota | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Neužfiksuota | 1 ligoje |
| PORCNporcupine O-acyltransferase | 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.
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