Tunnus
Pit in front of the ear
Kliiniline nimetus: Preauricular pit
Small indentation anterior to the insertion of the ear.
Kokkuvõte
- Teised nimetused
- Ear pit, Preauricular earpits, Preauricular fistulas, Preauricular pits, Preauricular sinus
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Pit in front of the ear, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test66 geeni on seotud tunnusega Pit in front of the ear
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Pit in front of the ear. 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 |
|---|---|---|
| EYA1EYA transcriptional coactivator and phosphatase 1 | Alati | Esineb 5 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Alati | Esineb 1 haiguses |
| H4C9H4 clustered histone 9 | Alati | Esineb 1 haiguses |
| PAX1paired box 1 | Alati | Esineb 1 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Alati | Esineb 2 haiguses |
| STAG2STAG2 cohesin complex component | Alati | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Väga sageli (80–99%) | Esineb 1 haiguses |
| SIX1SIX homeobox 1 | Väga sageli (80–99%) | Esineb 5 haiguses |
| SIX5SIX homeobox 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Väga sageli (80–99%) | Esineb 2 haiguses |
| ANK1ankyrin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DICER1dicer 1, ribonuclease III | Sageli (30–79%) | Esineb 1 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FLT4fms related receptor tyrosine kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Sageli (30–79%) | Esineb 2 haiguses |
| GATA5GATA binding protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA6GATA binding protein 6 | Sageli (30–79%) | Esineb 2 haiguses |
| GDF1growth differentiation factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GSCgoosecoid homeobox | Sageli (30–79%) | Esineb 1 haiguses |
| HYAL2hyaluronidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Sageli (30–79%) | Esineb 2 haiguses |
| KDM6Alysine demethylase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KDRkinase insert domain receptor | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Sageli (30–79%) | Esineb 2 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MITFmelanocyte inducing transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Sageli (30–79%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Sageli (30–79%) | Esineb 2 haiguses |
| NKX2-6NK2 homeobox 6 | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 26 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| BRPF1bromodomain and PHD finger containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDNRAendothelin receptor type A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNAfilamin A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRYLFRY like transcription coactivator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HK1hexokinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Mõnikord (5–29%) | Esineb 2 haiguses |
| KAT6Alysine acetyltransferase 6A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MID1midline 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1DRNA polymerase I and III subunit D | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEPHS1selenophosphate synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD5SET domain containing 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| WBP11WW domain binding protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XYLT2xylosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF462zinc finger protein 462 | Harva (1–4%) | Esineb 1 haiguses |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| GPC3glypican 3 | Pole registreeritud | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| SALL1spalt like transcription factor 1 | 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.
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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast