Požymis
Bifid uvula
Uvula separated into two parts most easily seen at the tip.
Santrauka
- Taip pat vadinama
- Bifid palatine uvula, Cleft of uvula, Cleft uvula, Forked uvula, Split uvula, Uvula bifida
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test174 genų susiję su Bifid uvula
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Bifid uvula. 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 |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Visada | 1 ligoje |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| B9D2B9 domain containing 2 | Visada | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Visada | 5 ligose |
| GRHL3grainyhead like transcription factor 3 | Visada | 3 ligose |
| HYAL1hyaluronidase 1 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| STAG2STAG2 cohesin complex component | Visada | 3 ligose |
| TGFB2transforming growth factor beta 2 | Visada | 2 ligose |
| UBBubiquitin B | Visada | 2 ligose |
| CDH11cadherin 11 | Labai dažnai (80–99%) | 2 ligose |
| DHCR2424-dehydrocholesterol reductase | Labai dažnai (80–99%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Labai dažnai (80–99%) | 2 ligose |
| TGFBR1transforming growth factor beta receptor 1 | Labai dažnai (80–99%) | 2 ligose |
| TGFBR2transforming growth factor beta receptor 2 | Labai dažnai (80–99%) | 2 ligose |
| AMER1APC membrane recruitment protein 1 | Dažnai (30–79%) | 2 ligose |
| BCORBCL6 corepressor | Dažnai (30–79%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Dažnai (30–79%) | 4 ligose |
| COL11A1collagen type XI alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL11A2collagen type XI alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Dažnai (30–79%) | 4 ligose |
| CTNNB1catenin beta 1 | Dažnai (30–79%) | 1 ligoje |
| CUL3cullin 3 | Dažnai (30–79%) | 1 ligoje |
| DDX59DEAD-box helicase 59 | Dažnai (30–79%) | 2 ligose |
| DHCR77-dehydrocholesterol reductase | Dažnai (30–79%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Dažnai (30–79%) | 4 ligose |
| DLL1delta like canonical Notch ligand 1 | Dažnai (30–79%) | 4 ligose |
| EDN1endothelin 1 | Dažnai (30–79%) | 2 ligose |
| FGF8fibroblast growth factor 8 | Dažnai (30–79%) | 4 ligose |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| FILIP1filamin A interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| FOXH1forkhead box H1 | Dažnai (30–79%) | 4 ligose |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Dažnai (30–79%) | 1 ligoje |
| GAS1growth arrest specific 1 | Dažnai (30–79%) | 4 ligose |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 4 ligose |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 1 ligoje |
| GNAI3G protein subunit alpha i3 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 134 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 3 ligose |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Dažnai (30–79%) | 1 ligoje |
| IGBP1immunoglobulin binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 2 ligose |
| IRF6interferon regulatory factor 6 | Dažnai (30–79%) | 3 ligose |
| ITGAVintegrin subunit alpha V | Dažnai (30–79%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Dažnai (30–79%) | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Dažnai (30–79%) | 2 ligose |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 1 ligoje |
| KIF14kinesin family member 14 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 2 ligose |
| KMT2Dlysine methyltransferase 2D | Dažnai (30–79%) | 2 ligose |
| METTL23methyltransferase 23, arginine | Dažnai (30–79%) | 1 ligoje |
| NODALnodal growth differentiation factor | Dažnai (30–79%) | 4 ligose |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Dažnai (30–79%) | 1 ligoje |
| PGM1phosphoglucomutase 1 | Dažnai (30–79%) | 1 ligoje |
| PLCB4phospholipase C beta 4 | Dažnai (30–79%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 4 ligose |
| RNU4ATACRNA, U4atac small nuclear | Dažnai (30–79%) | 1 ligoje |
| RPS23ribosomal protein S23 | Dažnai (30–79%) | 1 ligoje |
| RPS28ribosomal protein S28 | Dažnai (30–79%) | 1 ligoje |
| SELENOIselenoprotein I | Dažnai (30–79%) | 2 ligose |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 5 ligose |
| SIX3SIX homeobox 3 | Dažnai (30–79%) | 5 ligose |
| SLC39A13solute carrier family 39 member 13 | Dažnai (30–79%) | 1 ligoje |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 2 ligose |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 3 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Dažnai (30–79%) | 2 ligose |
| STILSTIL centriolar assembly protein | Dažnai (30–79%) | 4 ligose |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Dažnai (30–79%) | 2 ligose |
| TGIF1TGFB induced factor homeobox 1 | Dažnai (30–79%) | 4 ligose |
| ZIC2Zic family zinc finger 2 | Dažnai (30–79%) | 4 ligose |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| ASPHaspartate beta-hydroxylase | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Kartais (5–29%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| BGNbiglycan | Kartais (5–29%) | 1 ligoje |
| BIN1bridging integrator 1 | Kartais (5–29%) | 1 ligoje |
| CDC45cell division cycle 45 | Kartais (5–29%) | 1 ligoje |
| CDC6cell division cycle 6 | Kartais (5–29%) | 1 ligoje |
| CDT1chromatin licensing and DNA replication factor 1 | Kartais (5–29%) | 1 ligoje |
| CHD4chromodomain helicase DNA binding protein 4 | Kartais (5–29%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Kartais (5–29%) | 2 ligose |
| COL4A1collagen type IV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Kartais (5–29%) | 1 ligoje |
| DAG1dystroglycan 1 | Kartais (5–29%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Kartais (5–29%) | 1 ligoje |
| DLG3discs large MAGUK scaffold protein 3 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| EIF4A3eukaryotic translation initiation factor 4A3 | Kartais (5–29%) | 2 ligose |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 2 ligose |
| FKRPfukutin related protein | Kartais (5–29%) | 1 ligoje |
| FKTNfukutin | Kartais (5–29%) | 1 ligoje |
| FLNAfilamin A | Kartais (5–29%) | 1 ligoje |
| FOXI3forkhead box I3 | Kartais (5–29%) | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Kartais (5–29%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Kartais (5–29%) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Kartais (5–29%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Kartais (5–29%) | 2 ligose |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MYL11myosin light chain 11 | Kartais (5–29%) | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Kartais (5–29%) | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Kartais (5–29%) | 1 ligoje |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kartais (5–29%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Kartais (5–29%) | 1 ligoje |
| POMKprotein O-mannose kinase | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SEC23ASEC23 homolog A, COPII component | Kartais (5–29%) | 1 ligoje |
| SEPHS1selenophosphate synthetase 1 | Kartais (5–29%) | 1 ligoje |
| SEPTIN9septin 9 | Kartais (5–29%) | 1 ligoje |
| SHMT2serine hydroxymethyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| SIAH1siah E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Kartais (5–29%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 2 ligose |
| STAC3SH3 and cysteine rich domain 3 | Kartais (5–29%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Kartais (5–29%) | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Kartais (5–29%) | 1 ligoje |
| TP63tumor protein p63 | Kartais (5–29%) | 3 ligose |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TXNL4Athioredoxin like 4A | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| MSL2MSL complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Retai (1–4 %) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Retai (1–4 %) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Retai (1–4 %) | 2 ligose |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| RPL5ribosomal protein L5 | Neužfiksuota | 1 ligoje |
| SIX1SIX homeobox 1 | Neužfiksuota | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Neužfiksuota | 1 ligoje |
| SMSspermine synthase | Neužfiksuota | 1 ligoje |
| TBCEtubulin folding cofactor E | Neužfiksuota | 1 ligoje |
| TBX1T-box transcription factor 1 | Neužfiksuota | 1 ligoje |
| TBX22T-box transcription factor 22 | 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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