Egenskap
Bifid uvula
Uvula separated into two parts most easily seen at the tip.
Sammendrag
- Også kalt
- Bifid palatine uvula, Cleft of uvula, Cleft uvula, Forked uvula, Split uvula, Uvula bifida
- Kroppssystem
- Abnormality of head or neck
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test174 gener knyttet til Bifid uvula
Endringer i disse genene forårsaker sjeldne tilstander der Bifid uvula forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Alltid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| B9D2B9 domain containing 2 | Alltid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 5 tilstander |
| GRHL3grainyhead like transcription factor 3 | Alltid | I 3 tilstander |
| HYAL1hyaluronidase 1 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Alltid | I 3 tilstander |
| TGFB2transforming growth factor beta 2 | Alltid | I 2 tilstander |
| UBBubiquitin B | Alltid | I 2 tilstander |
| CDH11cadherin 11 | Svært ofte (80–99 %) | I 2 tilstander |
| DHCR2424-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Svært ofte (80–99 %) | I 2 tilstander |
| TGFBR1transforming growth factor beta receptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TGFBR2transforming growth factor beta receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| AMER1APC membrane recruitment protein 1 | Ofte (30–79 %) | I 2 tilstander |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 4 tilstander |
| COL11A1collagen type XI alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| COL11A2collagen type XI alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 4 tilstander |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CUL3cullin 3 | Ofte (30–79 %) | I 1 tilstand |
| DDX59DEAD-box helicase 59 | Ofte (30–79 %) | I 2 tilstander |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 4 tilstander |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 4 tilstander |
| EDN1endothelin 1 | Ofte (30–79 %) | I 2 tilstander |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| FILIP1filamin A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 4 tilstander |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 4 tilstander |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 4 tilstander |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Ofte (30–79 %) | I 1 tilstand |
Vis 134 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 3 tilstander |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ofte (30–79 %) | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 2 tilstander |
| IRF6interferon regulatory factor 6 | Ofte (30–79 %) | I 3 tilstander |
| ITGAVintegrin subunit alpha V | Ofte (30–79 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ofte (30–79 %) | I 2 tilstander |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 2 tilstander |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstander |
| METTL23methyltransferase 23, arginine | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 4 tilstander |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Ofte (30–79 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Ofte (30–79 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 4 tilstander |
| RNU4ATACRNA, U4atac small nuclear | Ofte (30–79 %) | I 1 tilstand |
| RPS23ribosomal protein S23 | Ofte (30–79 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Ofte (30–79 %) | I 1 tilstand |
| SELENOIselenoprotein I | Ofte (30–79 %) | I 2 tilstander |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 5 tilstander |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 5 tilstander |
| SLC39A13solute carrier family 39 member 13 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 2 tilstander |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 3 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstander |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 2 tilstander |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 4 tilstander |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 4 tilstander |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BGNbiglycan | Noen ganger (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC6cell division cycle 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL4A1collagen type IV alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Noen ganger (5–29 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| DLG3discs large MAGUK scaffold protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Noen ganger (5–29 %) | I 2 tilstander |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| FKRPfukutin related protein | Noen ganger (5–29 %) | I 1 tilstand |
| FKTNfukutin | Noen ganger (5–29 %) | I 1 tilstand |
| FLNAfilamin A | Noen ganger (5–29 %) | I 1 tilstand |
| FOXI3forkhead box I3 | Noen ganger (5–29 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Noen ganger (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Noen ganger (5–29 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Noen ganger (5–29 %) | I 2 tilstander |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MYL11myosin light chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Noen ganger (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SEPHS1selenophosphate synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEPTIN9septin 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SIAH1siah E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| STAC3SH3 and cysteine rich domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Noen ganger (5–29 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| TP63tumor protein p63 | Noen ganger (5–29 %) | I 3 tilstander |
| TTNtitin | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Sjelden (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjelden (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjelden (1–4%) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Sjelden (1–4%) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjelden (1–4%) | I 2 tilstander |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Ikke registrert | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registrert | I 1 tilstand |
| RPL5ribosomal protein L5 | Ikke registrert | I 1 tilstand |
| SIX1SIX homeobox 1 | Ikke registrert | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registrert | I 1 tilstand |
| SMSspermine synthase | Ikke registrert | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registrert | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ikke registrert | I 1 tilstand |
| TBX22T-box transcription factor 22 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker