AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Redness of skin or mucous membrane
Kliiniline nimetus: Erythema
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Kokkuvõte
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/erythema.json"
page <- fromJSON(url)
page$trait$nameRedness of skin or mucous membraneHP:0010783
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Redness of skin or mucous membrane-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test127 geeni on seotud tunnusega Redness of skin or mucous membrane
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Redness of skin or mucous membrane. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CD40LGCD40 ligand | Alati | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Alati | Esineb 1 haiguses |
| DCLRE1CDNA cross-link repair 1C | Alati | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Alati | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alati | Esineb 2 haiguses |
| GJA1gap junction protein alpha 1 | Alati | Esineb 2 haiguses |
| GJB4gap junction protein beta 4 | Alati | Esineb 2 haiguses |
| GTF2H4general transcription factor IIH subunit 4 | Alati | Esineb 1 haiguses |
| IRF4interferon regulatory factor 4 | Alati | Esineb 1 haiguses |
| KDSR3-ketodihydrosphingosine reductase | Alati | Esineb 3 haiguses |
| KLK11kallikrein related peptidase 11 | Alati | Esineb 1 haiguses |
| KRT1keratin 1 | Alati | Esineb 2 haiguses |
| KRT10keratin 10 | Alati | Esineb 1 haiguses |
| LRP1LDL receptor related protein 1 | Alati | Esineb 2 haiguses |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Alati | Esineb 1 haiguses |
| OTULINOTU deubiquitinase with linear linkage specificity | Alati | Esineb 1 haiguses |
| PLCG2phospholipase C gamma 2 | Alati | Esineb 2 haiguses |
| PSMG2proteasome assembly chaperone 2 | Alati | Esineb 1 haiguses |
| RAG1recombination activating 1 | Alati | Esineb 1 haiguses |
| RAG2recombination activating 2 | Alati | Esineb 1 haiguses |
| SPINK5serine peptidase inhibitor Kazal type 5 | Alati | Esineb 2 haiguses |
| SULT2B1sulfotransferase family 2B member 1 | Alati | Esineb 1 haiguses |
| TGM5transglutaminase 5 | Alati | Esineb 2 haiguses |
| TREX1three prime repair exonuclease 1 | Alati | Esineb 1 haiguses |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP2C1ATPase secretory pathway Ca2+ transporting 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CD28CD28 molecule | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLEC7AC-type lectin domain containing 7A | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTSBcathepsin B | Väga sageli (80–99%) | Esineb 2 haiguses |
| FECHferrochelatase | Väga sageli (80–99%) | Esineb 2 haiguses |
| FERMT1FERM domain containing kindlin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GJB3gap junction protein beta 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Väga sageli (80–99%) | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 87 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Väga sageli (80–99%) | Esineb 2 haiguses |
| IKZF1IKAROS family zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL17Finterleukin 17F | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL17RAinterleukin 17 receptor A | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL17RCinterleukin 17 receptor C | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRT14keratin 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRT5keratin 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRT83keratin 83 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LORICRINloricrin cornified envelope precursor protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOD2nucleotide binding oligomerization domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDGFBplatelet derived growth factor subunit B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEPDpeptidase D | Väga sageli (80–99%) | Esineb 1 haiguses |
| PERPp53 apoptosis effector related to PMP22 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Väga sageli (80–99%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC39A4solute carrier family 39 member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TGM1transglutaminase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNFRSF1BTNF receptor superfamily member 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAF3IP2TRAF3 interacting protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAM17ADAM metallopeptidase domain 17 | Sageli (30–79%) | Esineb 1 haiguses |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AQP5aquaporin 5 | Sageli (30–79%) | Esineb 1 haiguses |
| COL7A1collagen type VII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CSTAcystatin A | Sageli (30–79%) | Esineb 1 haiguses |
| DDB2damage specific DNA binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DSTdystonin | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Sageli (30–79%) | Esineb 1 haiguses |
| LIG4DNA ligase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MEFVMEFV innate immunity regulator, pyrin | Sageli (30–79%) | Esineb 2 haiguses |
| PORCNporcupine O-acyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| SLURP1secreted LY6/PLAUR domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TNFRSF1ATNF receptor superfamily member 1A | Sageli (30–79%) | Esineb 1 haiguses |
| XPAXPA, DNA damage recognition and repair factor | Sageli (30–79%) | Esineb 1 haiguses |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Sageli (30–79%) | Esineb 1 haiguses |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| BMS1BMS1 ribosome biogenesis factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLL4delta like canonical Notch ligand 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DSG4desmoglein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGB4integrin subunit beta 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KITKIT proto-oncogene, receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 2 haiguses |
| KRT2keratin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MVKmevalonate kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAXDNAD(P)HX dehydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGM3phosphoglucomutase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLECplectin | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF168ring finger protein 168 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBA2ubiquitin like modifier activating enzyme 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPNPEP2X-prolyl aminopeptidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| DSPdesmoplakin | Pole registreeritud | Esineb 1 haiguses |
| HPGD15-hydroxyprostaglandin dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| IL36RNinterleukin 36 receptor antagonist | Pole registreeritud | Esineb 1 haiguses |
| ITGA3integrin subunit alpha 3 | Pole registreeritud | Esineb 1 haiguses |
| LIPNlipase family member N | Pole registreeritud | Esineb 1 haiguses |
| PSMB8proteasome 20S subunit beta 8 | Pole registreeritud | Esineb 1 haiguses |
| SERPING1serpin family G member 1 | Pole registreeritud | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Pole registreeritud | Esineb 1 haiguses |
| STING1stimulator of interferon response cGAMP interactor 1 | Pole registreeritud | Esineb 1 haiguses |
| WNT10AWnt family member 10A | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.17-8666dff2.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast