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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Open skin sore
Klinikinis pavadinimas: Skin ulcer
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Santrauka
- Kūno sistema
- Abnormality of the integument
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/skin-ulcer.json"
page <- fromJSON(url)
page$trait$nameOpen skin soreHP:0200042
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Open skin sore, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test115 genų susiję su Open skin sore
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Open skin sore. 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 |
|---|---|---|
| PEPDpeptidase D | Visada | 2 ligose |
| STAT4signal transducer and activator of transcription 4 | Visada | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Visada | 1 ligoje |
| ANTXR2ANTXR cell adhesion molecule 2 | Labai dažnai (80–99%) | 2 ligose |
| BTKBruton tyrosine kinase | Labai dažnai (80–99%) | 1 ligoje |
| CCT5chaperonin containing TCP1 subunit 5 | Labai dažnai (80–99%) | 1 ligoje |
| CLEC7AC-type lectin domain containing 7A | Labai dažnai (80–99%) | 1 ligoje |
| DOCK8dedicator of cytokinesis 8 | Labai dažnai (80–99%) | 1 ligoje |
| IL17Finterleukin 17F | Labai dažnai (80–99%) | 1 ligoje |
| IL17RAinterleukin 17 receptor A | Labai dažnai (80–99%) | 1 ligoje |
| IL17RCinterleukin 17 receptor C | Labai dažnai (80–99%) | 1 ligoje |
| LAMA3laminin subunit alpha 3 | Labai dažnai (80–99%) | 2 ligose |
| LMNAlamin A/C | Labai dažnai (80–99%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Labai dažnai (80–99%) | 1 ligoje |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Labai dažnai (80–99%) | 1 ligoje |
| TP63tumor protein p63 | Labai dažnai (80–99%) | 1 ligoje |
| TRAF3IP2TRAF3 interacting protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Dažnai (30–79%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| AQP5aquaporin 5 | Dažnai (30–79%) | 1 ligoje |
| ATL1atlastin GTPase 1 | Dažnai (30–79%) | 1 ligoje |
| ATL3atlastin GTPase 3 | Dažnai (30–79%) | 1 ligoje |
| BMS1BMS1 ribosome biogenesis factor | Dažnai (30–79%) | 1 ligoje |
| CAV1caveolin 1 | Dažnai (30–79%) | 2 ligose |
| CCN2cellular communication network factor 2 | Dažnai (30–79%) | 2 ligose |
| CCR6C-C motif chemokine receptor 6 | Dažnai (30–79%) | 2 ligose |
| COL1A1collagen type I alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Dažnai (30–79%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| DLL4delta like canonical Notch ligand 4 | Dažnai (30–79%) | 1 ligoje |
| GBE11,4-alpha-glucan branching enzyme 1 | Dažnai (30–79%) | 1 ligoje |
| HAVCR2hepatitis A virus cellular receptor 2 | Dažnai (30–79%) | 1 ligoje |
| HBBhemoglobin subunit beta | Dažnai (30–79%) | 4 ligose |
| HLA-Bmajor histocompatibility complex, class I, B | Dažnai (30–79%) | 2 ligose |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 3 ligose |
| IL12Binterleukin 12B | Dažnai (30–79%) | 1 ligoje |
| IRF5interferon regulatory factor 5 | Dažnai (30–79%) | 2 ligose |
| ITGB4integrin subunit beta 4 | Dažnai (30–79%) | 1 ligoje |
| KIAA0319LKIAA0319 like | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 75 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LBRlamin B receptor | Dažnai (30–79%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Dažnai (30–79%) | 1 ligoje |
| MLXMAX dimerization protein MLX | Dažnai (30–79%) | 1 ligoje |
| NHP2NHP2 ribonucleoprotein | Dažnai (30–79%) | 1 ligoje |
| NOP10NOP10 ribonucleoprotein | Dažnai (30–79%) | 1 ligoje |
| NPM1nucleophosmin 1 | Dažnai (30–79%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Dažnai (30–79%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Dažnai (30–79%) | 1 ligoje |
| PERPp53 apoptosis effector related to PMP22 | Dažnai (30–79%) | 1 ligoje |
| PLECplectin | Dažnai (30–79%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Dažnai (30–79%) | 1 ligoje |
| SLC19A1solute carrier family 19 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC39A4solute carrier family 39 member 4 | Dažnai (30–79%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Dažnai (30–79%) | 2 ligose |
| TERCtelomerase RNA component | Dažnai (30–79%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Dažnai (30–79%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Dažnai (30–79%) | 1 ligoje |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Dažnai (30–79%) | 1 ligoje |
| TYMSthymidylate synthetase | Dažnai (30–79%) | 1 ligoje |
| UBA2ubiquitin like modifier activating enzyme 2 | Dažnai (30–79%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| WRAP53WD repeat containing antisense to TP53 | Dažnai (30–79%) | 1 ligoje |
| WRNWRN RecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| AK2adenylate kinase 2 | Kartais (5–29%) | 1 ligoje |
| ATRXATRX chromatin remodeler | Kartais (5–29%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| CD28CD28 molecule | Kartais (5–29%) | 1 ligoje |
| CDH23cadherin related 23 | Kartais (5–29%) | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Kartais (5–29%) | 2 ligose |
| CYBAcytochrome b-245 alpha chain | Kartais (5–29%) | 1 ligoje |
| CYBBcytochrome b-245 beta chain | Kartais (5–29%) | 1 ligoje |
| CYBC1cytochrome b-245 chaperone 1 | Kartais (5–29%) | 1 ligoje |
| EPB41erythrocyte membrane protein band 4.1 | Kartais (5–29%) | 1 ligoje |
| EPHB4EPH receptor B4 | Kartais (5–29%) | 1 ligoje |
| GNAQG protein subunit alpha q | Kartais (5–29%) | 1 ligoje |
| GYPCglycophorin C (Gerbich blood group) | Kartais (5–29%) | 1 ligoje |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Kartais (5–29%) | 1 ligoje |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Kartais (5–29%) | 1 ligoje |
| ITGB2integrin subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| KRT1keratin 1 | Kartais (5–29%) | 1 ligoje |
| KRT10keratin 10 | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NCF2neutrophil cytosolic factor 2 | Kartais (5–29%) | 1 ligoje |
| NCF4neutrophil cytosolic factor 4 | Kartais (5–29%) | 1 ligoje |
| NOD2nucleotide binding oligomerization domain containing 2 | Kartais (5–29%) | 2 ligose |
| NOTCH2notch receptor 2 | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 1 ligoje |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PGM3phosphoglucomutase 3 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| PROS1protein S | Kartais (5–29%) | 1 ligoje |
| PRTN3proteinase 3 | Kartais (5–29%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 2 ligose |
| RASA1RAS p21 protein activator 1 | Kartais (5–29%) | 1 ligoje |
| SPTA1spectrin alpha, erythrocytic 1 | Kartais (5–29%) | 2 ligose |
| SPTBspectrin beta, erythrocytic | Kartais (5–29%) | 2 ligose |
| TNFRSF1BTNF receptor superfamily member 1B | Kartais (5–29%) | 1 ligoje |
| TP53tumor protein p53 | Kartais (5–29%) | 1 ligoje |
| USP48ubiquitin specific peptidase 48 | Kartais (5–29%) | 1 ligoje |
| USP8ubiquitin specific peptidase 8 | Kartais (5–29%) | 1 ligoje |
| WASWASP actin nucleation promoting factor | Kartais (5–29%) | 1 ligoje |
| ANK1ankyrin 1 | Retai (1–4 %) | 1 ligoje |
| EPB42erythrocyte membrane protein band 4.2 | Retai (1–4 %) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Retai (1–4 %) | 1 ligoje |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Retai (1–4 %) | 1 ligoje |
| TAP1transporter 1, ATP binding cassette subfamily B member | 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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- 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↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites