Piirre
Bifid uvula
Uvula separated into two parts most easily seen at the tip.
Yhteenveto
- Tunnetaan myös nimellä
- Bifid palatine uvula, Cleft of uvula, Cleft uvula, Forked uvula, Split uvula, Uvula bifida
- Elimistön järjestelmä
- Abnormality of head or neck
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Bifid uvula, and the rest of your genome, with one test.
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Tilaa Genome Test174 geeniä, jotka liittyvät piirteeseen Bifid uvula
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Bifid uvula esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Aina | 1 sairaudessa |
| AMOTL1angiomotin like 1 | Aina | 1 sairaudessa |
| B9D2B9 domain containing 2 | Aina | 1 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Aina | 5 sairaudessa |
| GRHL3grainyhead like transcription factor 3 | Aina | 3 sairaudessa |
| HYAL1hyaluronidase 1 | Aina | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Aina | 1 sairaudessa |
| INTS11integrator complex subunit 11 | Aina | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| STAG2STAG2 cohesin complex component | Aina | 3 sairaudessa |
| TGFB2transforming growth factor beta 2 | Aina | 2 sairaudessa |
| UBBubiquitin B | Aina | 2 sairaudessa |
| CDH11cadherin 11 | Hyvin usein (80–99%) | 2 sairaudessa |
| DHCR2424-dehydrocholesterol reductase | Hyvin usein (80–99%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| TGFBR1transforming growth factor beta receptor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| AMER1APC membrane recruitment protein 1 | Usein (30–79%) | 2 sairaudessa |
| BCORBCL6 corepressor | Usein (30–79%) | 1 sairaudessa |
| CDONcell adhesion associated, oncogene regulated | Usein (30–79%) | 4 sairaudessa |
| COL11A1collagen type XI alpha 1 chain | Usein (30–79%) | 2 sairaudessa |
| COL11A2collagen type XI alpha 2 chain | Usein (30–79%) | 1 sairaudessa |
| CRIPTOcripto, EGF-CFC family member | Usein (30–79%) | 4 sairaudessa |
| CTNNB1catenin beta 1 | Usein (30–79%) | 1 sairaudessa |
| CUL3cullin 3 | Usein (30–79%) | 1 sairaudessa |
| DDX59DEAD-box helicase 59 | Usein (30–79%) | 2 sairaudessa |
| DHCR77-dehydrocholesterol reductase | Usein (30–79%) | 1 sairaudessa |
| DISP1dispatched RND transporter family member 1 | Usein (30–79%) | 4 sairaudessa |
| DLL1delta like canonical Notch ligand 1 | Usein (30–79%) | 4 sairaudessa |
| EDN1endothelin 1 | Usein (30–79%) | 2 sairaudessa |
| FGF8fibroblast growth factor 8 | Usein (30–79%) | 4 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Usein (30–79%) | 2 sairaudessa |
| FILIP1filamin A interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| FOXH1forkhead box H1 | Usein (30–79%) | 4 sairaudessa |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Usein (30–79%) | 1 sairaudessa |
| GAS1growth arrest specific 1 | Usein (30–79%) | 4 sairaudessa |
| GLI2GLI family zinc finger 2 | Usein (30–79%) | 4 sairaudessa |
| GLI3GLI family zinc finger 3 | Usein (30–79%) | 1 sairaudessa |
| GNAI3G protein subunit alpha i3 | Usein (30–79%) | 1 sairaudessa |
Näytä 134 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Usein (30–79%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Usein (30–79%) | 3 sairaudessa |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Usein (30–79%) | 1 sairaudessa |
| IGBP1immunoglobulin binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| IPO8importin 8 | Usein (30–79%) | 2 sairaudessa |
| IRF6interferon regulatory factor 6 | Usein (30–79%) | 3 sairaudessa |
| ITGAVintegrin subunit alpha V | Usein (30–79%) | 1 sairaudessa |
| KAT6Blysine acetyltransferase 6B | Usein (30–79%) | 1 sairaudessa |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Usein (30–79%) | 2 sairaudessa |
| KDM6Alysine demethylase 6A | Usein (30–79%) | 1 sairaudessa |
| KIF14kinesin family member 14 | Usein (30–79%) | 1 sairaudessa |
| KIF7kinesin family member 7 | Usein (30–79%) | 2 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Usein (30–79%) | 2 sairaudessa |
| METTL23methyltransferase 23, arginine | Usein (30–79%) | 1 sairaudessa |
| NODALnodal growth differentiation factor | Usein (30–79%) | 4 sairaudessa |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Usein (30–79%) | 1 sairaudessa |
| PGM1phosphoglucomutase 1 | Usein (30–79%) | 1 sairaudessa |
| PLCB4phospholipase C beta 4 | Usein (30–79%) | 1 sairaudessa |
| PLCH1phospholipase C eta 1 | Usein (30–79%) | 1 sairaudessa |
| PTCH1patched 1 | Usein (30–79%) | 4 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Usein (30–79%) | 1 sairaudessa |
| RPS23ribosomal protein S23 | Usein (30–79%) | 1 sairaudessa |
| RPS28ribosomal protein S28 | Usein (30–79%) | 1 sairaudessa |
| SELENOIselenoprotein I | Usein (30–79%) | 2 sairaudessa |
| SHHsonic hedgehog signaling molecule | Usein (30–79%) | 5 sairaudessa |
| SIX3SIX homeobox 3 | Usein (30–79%) | 5 sairaudessa |
| SLC39A13solute carrier family 39 member 13 | Usein (30–79%) | 1 sairaudessa |
| SMAD2SMAD family member 2 | Usein (30–79%) | 2 sairaudessa |
| SMAD3SMAD family member 3 | Usein (30–79%) | 3 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Usein (30–79%) | 1 sairaudessa |
| SPEGstriated muscle enriched protein kinase | Usein (30–79%) | 2 sairaudessa |
| STILSTIL centriolar assembly protein | Usein (30–79%) | 4 sairaudessa |
| TCTN3tectonic family member 3 | Usein (30–79%) | 1 sairaudessa |
| TGFB3transforming growth factor beta 3 | Usein (30–79%) | 2 sairaudessa |
| TGIF1TGFB induced factor homeobox 1 | Usein (30–79%) | 4 sairaudessa |
| ZIC2Zic family zinc finger 2 | Usein (30–79%) | 4 sairaudessa |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| ARMC9armadillo repeat containing 9 | Joskus (5–29%) | 1 sairaudessa |
| ASPHaspartate beta-hydroxylase | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Joskus (5–29%) | 1 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| B4GALT7beta-1,4-galactosyltransferase 7 | Joskus (5–29%) | 1 sairaudessa |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| BGNbiglycan | Joskus (5–29%) | 1 sairaudessa |
| BIN1bridging integrator 1 | Joskus (5–29%) | 1 sairaudessa |
| CDC45cell division cycle 45 | Joskus (5–29%) | 1 sairaudessa |
| CDC6cell division cycle 6 | Joskus (5–29%) | 1 sairaudessa |
| CDT1chromatin licensing and DNA replication factor 1 | Joskus (5–29%) | 1 sairaudessa |
| CHD4chromodomain helicase DNA binding protein 4 | Joskus (5–29%) | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Joskus (5–29%) | 2 sairaudessa |
| COL4A1collagen type IV alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Joskus (5–29%) | 1 sairaudessa |
| DAG1dystroglycan 1 | Joskus (5–29%) | 1 sairaudessa |
| DDX3XDEAD-box helicase 3 X-linked | Joskus (5–29%) | 1 sairaudessa |
| DLG3discs large MAGUK scaffold protein 3 | Joskus (5–29%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Joskus (5–29%) | 1 sairaudessa |
| EIF4A3eukaryotic translation initiation factor 4A3 | Joskus (5–29%) | 2 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Joskus (5–29%) | 2 sairaudessa |
| FKRPfukutin related protein | Joskus (5–29%) | 1 sairaudessa |
| FKTNfukutin | Joskus (5–29%) | 1 sairaudessa |
| FLNAfilamin A | Joskus (5–29%) | 1 sairaudessa |
| FOXI3forkhead box I3 | Joskus (5–29%) | 1 sairaudessa |
| GMNNgeminin DNA replication inhibitor | Joskus (5–29%) | 1 sairaudessa |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Joskus (5–29%) | 1 sairaudessa |
| KCNK9potassium two pore domain channel subfamily K member 9 | Joskus (5–29%) | 1 sairaudessa |
| KCTD1potassium channel tetramerization domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| KMT2Clysine methyltransferase 2C | Joskus (5–29%) | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Joskus (5–29%) | 2 sairaudessa |
| MEG3maternally expressed 3 | Joskus (5–29%) | 1 sairaudessa |
| MYL11myosin light chain 11 | Joskus (5–29%) | 1 sairaudessa |
| ORC1origin recognition complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| ORC4origin recognition complex subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| ORC6origin recognition complex subunit 6 | Joskus (5–29%) | 1 sairaudessa |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Joskus (5–29%) | 1 sairaudessa |
| PGAP2post-GPI attachment to proteins 2 | Joskus (5–29%) | 1 sairaudessa |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Joskus (5–29%) | 1 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Joskus (5–29%) | 1 sairaudessa |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Joskus (5–29%) | 1 sairaudessa |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Joskus (5–29%) | 1 sairaudessa |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Joskus (5–29%) | 1 sairaudessa |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Joskus (5–29%) | 1 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Joskus (5–29%) | 1 sairaudessa |
| POLA1DNA polymerase alpha 1, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Joskus (5–29%) | 1 sairaudessa |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Joskus (5–29%) | 1 sairaudessa |
| POMKprotein O-mannose kinase | Joskus (5–29%) | 1 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Joskus (5–29%) | 1 sairaudessa |
| PTDSS1phosphatidylserine synthase 1 | Joskus (5–29%) | 1 sairaudessa |
| RFX7regulatory factor X7 | Joskus (5–29%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Joskus (5–29%) | 1 sairaudessa |
| RXYLT1ribitol xylosyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| SEC23ASEC23 homolog A, COPII component | Joskus (5–29%) | 1 sairaudessa |
| SEPHS1selenophosphate synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| SEPTIN9septin 9 | Joskus (5–29%) | 1 sairaudessa |
| SHMT2serine hydroxymethyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| SIAH1siah E3 ubiquitin protein ligase 1 | Joskus (5–29%) | 1 sairaudessa |
| SMAD4SMAD family member 4 | Joskus (5–29%) | 1 sairaudessa |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Joskus (5–29%) | 1 sairaudessa |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Joskus (5–29%) | 1 sairaudessa |
| SONSON DNA and RNA binding protein | Joskus (5–29%) | 2 sairaudessa |
| STAC3SH3 and cysteine rich domain 3 | Joskus (5–29%) | 1 sairaudessa |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Joskus (5–29%) | 1 sairaudessa |
| TGDSTDP-glucose 4,6-dehydratase | Joskus (5–29%) | 1 sairaudessa |
| TP63tumor protein p63 | Joskus (5–29%) | 3 sairaudessa |
| TTNtitin | Joskus (5–29%) | 1 sairaudessa |
| TWIST1twist family bHLH transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| TXNL4Athioredoxin like 4A | Joskus (5–29%) | 1 sairaudessa |
| USP9Xubiquitin specific peptidase 9 X-linked | Joskus (5–29%) | 1 sairaudessa |
| FGF10fibroblast growth factor 10 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA5gap junction protein alpha 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA8gap junction protein alpha 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SMPD4sphingomyelin phosphodiesterase 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| XYLT1xylosyltransferase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Harvinainen (1–4 %) | 2 sairaudessa |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ei kirjattu | 1 sairaudessa |
| BMP4bone morphogenetic protein 4 | Ei kirjattu | 1 sairaudessa |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Ei kirjattu | 1 sairaudessa |
| RECQL4RecQ like helicase 4 | Ei kirjattu | 1 sairaudessa |
| RPL5ribosomal protein L5 | Ei kirjattu | 1 sairaudessa |
| SIX1SIX homeobox 1 | Ei kirjattu | 1 sairaudessa |
| SKIC3SKI3 subunit of superkiller complex | Ei kirjattu | 1 sairaudessa |
| SMSspermine synthase | Ei kirjattu | 1 sairaudessa |
| TBCEtubulin folding cofactor E | Ei kirjattu | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Ei kirjattu | 1 sairaudessa |
| TBX22T-box transcription factor 22 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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