Tunnus
Cleft upper lip
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Kokkuvõte
- Teised nimetused
- Cleft of upper lip, Harelip, Cheiloschisis of upper lip
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Cleft upper lip, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test103 geeni on seotud tunnusega Cleft upper lip
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Cleft upper lip. 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 |
|---|---|---|
| ACTBactin beta | Alati | Esineb 2 haiguses |
| RPGRIP1LRPGRIP1 like | Alati | Esineb 1 haiguses |
| TP63tumor protein p63 | Alati | Esineb 2 haiguses |
| VAX1ventral anterior homeobox 1 | Alati | Esineb 1 haiguses |
| CDH1cadherin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IRF6interferon regulatory factor 6 | Väga sageli (80–99%) | Esineb 4 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PHF8PHD finger protein 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sageli (30–79%) | Esineb 1 haiguses |
| COLEC10collectin subfamily member 10 | Sageli (30–79%) | Esineb 1 haiguses |
| COLEC11collectin subfamily member 11 | 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 |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Sageli (30–79%) | Esineb 3 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GRHL3grainyhead like transcription factor 3 | Sageli (30–79%) | Esineb 2 haiguses |
| IFT80intraflagellar transport 80 | Sageli (30–79%) | Esineb 1 haiguses |
| JUPjunction plakoglobin | Sageli (30–79%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NELFAnegative elongation factor complex member A | Sageli (30–79%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Sageli (30–79%) | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL5ribosomal protein L5 | Sageli (30–79%) | Esineb 1 haiguses |
| SMOC1SPARC related modular calcium binding 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TRAPPC9trafficking protein particle complex subunit 9 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT3Wnt family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| YAP1Yes1 associated transcriptional regulator | Sageli (30–79%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 63 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| FGD1FYVE, RhoGEF and PH domain containing 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FOXC2forkhead box C2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GLI3GLI family zinc finger 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPC3glypican 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPC4glypican 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIP1glutamate receptor interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MID1midline 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX3paired box 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1BRNA polymerase I subunit B | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1DRNA polymerase I and III subunit D | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC29A3solute carrier family 29 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ARHGAP31Rho GTPase activating protein 31 | Pole registreeritud | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| BCORBCL6 corepressor | Pole registreeritud | Esineb 1 haiguses |
| CCN2cellular communication network factor 2 | Pole registreeritud | Esineb 1 haiguses |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| DHODHdihydroorotate dehydrogenase (quinone) | Pole registreeritud | Esineb 1 haiguses |
| EFNB1ephrin B1 | Pole registreeritud | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Pole registreeritud | Esineb 1 haiguses |
| EVCEvC ciliary complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| EVC2EvC ciliary complex subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Pole registreeritud | Esineb 1 haiguses |
| FKRPfukutin related protein | Pole registreeritud | Esineb 1 haiguses |
| FKTNfukutin | Pole registreeritud | Esineb 1 haiguses |
| FLNBfilamin B | Pole registreeritud | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| MEIS2Meis homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| MEOX1mesenchyme homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| MSX1msh homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| MSX2msh homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| NBNnibrin | Pole registreeritud | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Pole registreeritud | Esineb 1 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Pole registreeritud | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Pole registreeritud | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| PROKR2prokineticin receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| PTCH1patched 1 | Pole registreeritud | Esineb 1 haiguses |
| RPS19ribosomal protein S19 | Pole registreeritud | Esineb 1 haiguses |
| SF3B2splicing factor 3b subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| SF3B4splicing factor 3b subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Pole registreeritud | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Pole registreeritud | Esineb 1 haiguses |
| TGDSTDP-glucose 4,6-dehydratase | Pole registreeritud | Esineb 1 haiguses |
| TXNL4Athioredoxin like 4A | Pole registreeritud | Esineb 1 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | 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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast