Požymis
Full lips
Klinikinis pavadinimas: Thick vermilion border
Increased width of the skin of vermilion border region of upper lip.
Santrauka
- Taip pat vadinama
- Increased volume of lip, Plump lips, Prominent lips, Thick lips, Increased volume of lip vermillion
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Full lips, and the rest of your genome, with one test.
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Įsigyti savo Genome Test171 genas susijęs su Full lips
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Full lips. 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 |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Visada | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Visada | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Visada | 1 ligoje |
| ATRXATRX chromatin remodeler | Visada | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Visada | 1 ligoje |
| BCAS3BCAS3 microtubule associated cell migration factor | Visada | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Visada | 1 ligoje |
| CDC6cell division cycle 6 | Visada | 2 ligose |
| CITcitron rho-interacting serine/threonine kinase | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| EDAectodysplasin A | Visada | 1 ligoje |
| ERFETS2 repressor factor | Visada | 1 ligoje |
| EXOSC1exosome component 1 | Visada | 1 ligoje |
| FBXO11F-box protein 11 | Visada | 1 ligoje |
| FBXO31F-box protein 31 | Visada | 1 ligoje |
| FIBPFGF1 intracellular binding protein | Visada | 2 ligose |
| GMNNgeminin DNA replication inhibitor | Visada | 2 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| IDUAalpha-L-iduronidase | Visada | 4 ligose |
| IFT52intraflagellar transport 52 | Visada | 1 ligoje |
| INSRinsulin receptor | Visada | 2 ligose |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Visada | 3 ligose |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| MCM5minichromosome maintenance complex component 5 | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Visada | 1 ligoje |
| NAV3neuron navigator 3 | Visada | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Visada | 1 ligoje |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Visada | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Visada | 2 ligose |
| RBL2RB transcriptional corepressor like 2 | Visada | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Visada | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Visada | 2 ligose |
| SEC31ASEC31 homolog A, COPII component | Visada | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Visada | 1 ligoje |
| SNX14sorting nexin 14 | Visada | 2 ligose |
| SRD5A3steroid 5 alpha-reductase 3 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Visada | 1 ligoje |
Rodyti dar 131 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| VPS13Bvacuolar protein sorting 13 homolog B | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Labai dažnai (80–99%) | 1 ligoje |
| AGAaspartylglucosaminidase | Labai dažnai (80–99%) | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Labai dažnai (80–99%) | 1 ligoje |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Labai dažnai (80–99%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Labai dažnai (80–99%) | 2 ligose |
| RSPRY1ring finger and SPRY domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| SH3PXD2BSH3 and PX domains 2B | Labai dažnai (80–99%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| TFAP2Btranscription factor AP-2 beta | Labai dažnai (80–99%) | 1 ligoje |
| ACSL4acyl-CoA synthetase long chain family member 4 | Dažnai (30–79%) | 1 ligoje |
| AFF2ALF transcription elongation factor 2 | Dažnai (30–79%) | 2 ligose |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Dažnai (30–79%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Dažnai (30–79%) | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Dažnai (30–79%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Dažnai (30–79%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 2 ligose |
| CBLCbl proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Dažnai (30–79%) | 1 ligoje |
| COG6component of oligomeric golgi complex 6 | Dažnai (30–79%) | 1 ligoje |
| DOCK7dedicator of cytokinesis 7 | Dažnai (30–79%) | 2 ligose |
| ERMARDER membrane associated RNA degradation | Dažnai (30–79%) | 1 ligoje |
| EXOSC5exosome component 5 | Dažnai (30–79%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Dažnai (30–79%) | 1 ligoje |
| FLNAfilamin A | Dažnai (30–79%) | 2 ligose |
| FOXP1forkhead box P1 | Dažnai (30–79%) | 1 ligoje |
| FRA10AC1FRA10A associated CGG repeat 1 | Dažnai (30–79%) | 1 ligoje |
| GNSglucosamine (N-acetyl)-6-sulfatase | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 1 ligoje |
| GPR101G protein-coupled receptor 101 | Dažnai (30–79%) | 1 ligoje |
| GTPBP1GTP binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Dažnai (30–79%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Dažnai (30–79%) | 2 ligose |
| LTBP3latent transforming growth factor beta binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| NAGAalpha-N-acetylgalactosaminidase | Dažnai (30–79%) | 1 ligoje |
| NF1neurofibromin 1 | Dažnai (30–79%) | 2 ligose |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Dažnai (30–79%) | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| PRIM1DNA primase subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| PUS7pseudouridine synthase 7 | Dažnai (30–79%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| RNF2ring finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| RNU12RNA, U12 small nuclear | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| STAG2STAG2 cohesin complex component | Dažnai (30–79%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| WDR26WD repeat domain 26 | Dažnai (30–79%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Kartais (5–29%) | 1 ligoje |
| CDC45cell division cycle 45 | Kartais (5–29%) | 1 ligoje |
| CDT1chromatin licensing and DNA replication factor 1 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| EDARectodysplasin A receptor | Kartais (5–29%) | 2 ligose |
| EDARADDEDAR associated via death domain | Kartais (5–29%) | 2 ligose |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Kartais (5–29%) | 1 ligoje |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Kartais (5–29%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Kartais (5–29%) | 1 ligoje |
| KAT8lysine acetyltransferase 8 | Kartais (5–29%) | 1 ligoje |
| KDF1keratinocyte differentiation factor 1 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| KIF7kinesin family member 7 | Kartais (5–29%) | 1 ligoje |
| KREMEN1kringle containing transmembrane protein 1 | Kartais (5–29%) | 1 ligoje |
| LRP6LDL receptor related protein 6 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Kartais (5–29%) | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | Kartais (5–29%) | 1 ligoje |
| PIDD1p53-induced death domain protein 1 | Kartais (5–29%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| RPL17ribosomal protein L17 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SETSET nuclear proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SMG8SMG8 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 1 ligoje |
| TRAF6TNF receptor associated factor 6 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Kartais (5–29%) | 2 ligose |
| WBP4WW domain binding protein 4 | Kartais (5–29%) | 1 ligoje |
| ZMYM2zinc finger MYM-type containing 2 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Retai (1–4 %) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Neužfiksuota | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Neužfiksuota | 1 ligoje |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Neužfiksuota | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Neužfiksuota | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Neužfiksuota | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Neužfiksuota | 1 ligoje |
| KIFBPkinesin family binding protein | Neužfiksuota | 1 ligoje |
| MOCS1molybdenum cofactor synthesis 1 | Neužfiksuota | 1 ligoje |
| MOCS2molybdenum cofactor synthesis 2 | Neužfiksuota | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Neužfiksuota | 1 ligoje |
| NANSN-acetylneuraminate synthase | Neužfiksuota | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Neužfiksuota | 1 ligoje |
| SOX18SRY-box transcription factor 18 | 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 2026.10.16-c6eea6bf.
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