Piirre
Broad nasal tip
Increase in width of the nasal tip.
Yhteenveto
- Tunnetaan myös nimellä
- Broad tip of nose, Broad upturned nose, Broad, upturned nose, Increased breadth of nasal tip, Increased breadth of tip of nose, Increased width of nasal tip, Increased width of tip of nose, Nasal tip, broad, Nasal tip, wide, Wide tip of nose
- Elimistön järjestelmä
- Abnormality of head or neck
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test172 geeniä, jotka liittyvät piirteeseen Broad nasal tip
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Broad nasal tip 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Aina | 2 sairaudessa |
| CCNKcyclin K | Aina | 1 sairaudessa |
| CDK10cyclin dependent kinase 10 | Aina | 1 sairaudessa |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Aina | 1 sairaudessa |
| CTNNB1catenin beta 1 | Aina | 2 sairaudessa |
| CUL7cullin 7 | Aina | 1 sairaudessa |
| EXOSC2exosome component 2 | Aina | 1 sairaudessa |
| FBXO28F-box protein 28 | Aina | 1 sairaudessa |
| FOXP1forkhead box P1 | Aina | 2 sairaudessa |
| GATAD2BGATA zinc finger domain containing 2B | Aina | 2 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Aina | 1 sairaudessa |
| LTBP1latent transforming growth factor beta binding protein 1 | Aina | 1 sairaudessa |
| MYMKmyomaker, myoblast fusion factor | Aina | 1 sairaudessa |
| NACC1nucleus accumbens associated 1 | Aina | 2 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Aina | 1 sairaudessa |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Aina | 1 sairaudessa |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Aina | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Aina | 1 sairaudessa |
| POC1APOC1 centriolar protein A | Aina | 1 sairaudessa |
| PUF60poly(U) binding splicing factor 60 | Aina | 2 sairaudessa |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Aina | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Aina | 1 sairaudessa |
| SATB2SATB homeobox 2 | Aina | 1 sairaudessa |
| SH3PXD2BSH3 and PX domains 2B | Aina | 1 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Aina | 1 sairaudessa |
| TPRtranslocated promoter region, nuclear basket protein | Aina | 1 sairaudessa |
| TWIST1twist family bHLH transcription factor 1 | Aina | 1 sairaudessa |
| WASHC4WASH complex subunit 4 | Aina | 1 sairaudessa |
| ACTBactin beta | Hyvin usein (80–99%) | 1 sairaudessa |
| ALX4ALX homeobox 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CDH11cadherin 11 | Hyvin usein (80–99%) | 2 sairaudessa |
| EXT2exostosin glycosyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| HDAC4histone deacetylase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| HDAC8histone deacetylase 8 | Hyvin usein (80–99%) | 2 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Hyvin usein (80–99%) | 2 sairaudessa |
| KDM3Blysine demethylase 3B | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 132 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| LAS1LLAS1 like ribosome biogenesis factor | Hyvin usein (80–99%) | 1 sairaudessa |
| LRP2LDL receptor related protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NIPBLNIPBL cohesin loading factor | Hyvin usein (80–99%) | 1 sairaudessa |
| PHF21APHD finger protein 21A | Hyvin usein (80–99%) | 1 sairaudessa |
| PHF8PHD finger protein 8 | Hyvin usein (80–99%) | 2 sairaudessa |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Hyvin usein (80–99%) | 1 sairaudessa |
| RNF135ring finger protein 135 | Hyvin usein (80–99%) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SIX2SIX homeobox 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZSWIM6zinc finger SWIM-type containing 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| ABCC9ATP binding cassette subfamily C member 9 | Usein (30–79%) | 1 sairaudessa |
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Usein (30–79%) | 1 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Usein (30–79%) | 1 sairaudessa |
| APCAPC regulator of Wnt signaling pathway | Usein (30–79%) | 1 sairaudessa |
| ARID1AAT-rich interaction domain 1A | Usein (30–79%) | 1 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Usein (30–79%) | 2 sairaudessa |
| ARSLarylsulfatase L | Usein (30–79%) | 1 sairaudessa |
| ASXL2ASXL transcriptional regulator 2 | Usein (30–79%) | 1 sairaudessa |
| BCORBCL6 corepressor | Usein (30–79%) | 1 sairaudessa |
| BORCS8BLOC-1 related complex subunit 8 | Usein (30–79%) | 1 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Usein (30–79%) | 2 sairaudessa |
| COG6component of oligomeric golgi complex 6 | Usein (30–79%) | 1 sairaudessa |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Usein (30–79%) | 2 sairaudessa |
| DOCK7dedicator of cytokinesis 7 | Usein (30–79%) | 2 sairaudessa |
| DPF2double PHD fingers 2 | Usein (30–79%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| ELNelastin | Usein (30–79%) | 1 sairaudessa |
| EMILIN1elastin microfibril interfacer 1 | Usein (30–79%) | 1 sairaudessa |
| EXTL3exostosin like glycosyltransferase 3 | Usein (30–79%) | 1 sairaudessa |
| FAM149B1family with sequence similarity 149 member B1 | Usein (30–79%) | 1 sairaudessa |
| FREM1FRAS1 related extracellular matrix 1 | Usein (30–79%) | 1 sairaudessa |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Usein (30–79%) | 1 sairaudessa |
| H4C3H4 clustered histone 3 | Usein (30–79%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Usein (30–79%) | 2 sairaudessa |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Usein (30–79%) | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Usein (30–79%) | 1 sairaudessa |
| IGF1Rinsulin like growth factor 1 receptor | Usein (30–79%) | 1 sairaudessa |
| KCNK9potassium two pore domain channel subfamily K member 9 | Usein (30–79%) | 1 sairaudessa |
| KIAA0753KIAA0753 | Usein (30–79%) | 1 sairaudessa |
| KIF7kinesin family member 7 | Usein (30–79%) | 1 sairaudessa |
| KMT2Alysine methyltransferase 2A | Usein (30–79%) | 1 sairaudessa |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Usein (30–79%) | 1 sairaudessa |
| MCTP2multiple C2 and transmembrane domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| MLXIPLMLX interacting protein like | Usein (30–79%) | 1 sairaudessa |
| NEK1NIMA related kinase 1 | Usein (30–79%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Usein (30–79%) | 1 sairaudessa |
| PDE6Dphosphodiesterase 6D | Usein (30–79%) | 1 sairaudessa |
| PGAP2post-GPI attachment to proteins 2 | Usein (30–79%) | 1 sairaudessa |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Usein (30–79%) | 1 sairaudessa |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Usein (30–79%) | 1 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Usein (30–79%) | 2 sairaudessa |
| PORCNporcupine O-acyltransferase | Usein (30–79%) | 2 sairaudessa |
| PTPRFprotein tyrosine phosphatase receptor type F | Usein (30–79%) | 1 sairaudessa |
| QRICH1glutamine rich 1 | Usein (30–79%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Usein (30–79%) | 1 sairaudessa |
| SETD2SET domain containing 2, histone lysine methyltransferase | Usein (30–79%) | 2 sairaudessa |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Usein (30–79%) | 1 sairaudessa |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Usein (30–79%) | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Usein (30–79%) | 1 sairaudessa |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Usein (30–79%) | 1 sairaudessa |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Usein (30–79%) | 1 sairaudessa |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Usein (30–79%) | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Usein (30–79%) | 1 sairaudessa |
| SOX11SRY-box transcription factor 11 | Usein (30–79%) | 1 sairaudessa |
| SOX4SRY-box transcription factor 4 | Usein (30–79%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Usein (30–79%) | 1 sairaudessa |
| TFAP2Atranscription factor AP-2 alpha | Usein (30–79%) | 2 sairaudessa |
| TLK2tousled like kinase 2 | Usein (30–79%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Usein (30–79%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Usein (30–79%) | 1 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| WDR26WD repeat domain 26 | Usein (30–79%) | 1 sairaudessa |
| YY1YY1 transcription factor | Usein (30–79%) | 1 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Joskus (5–29%) | 1 sairaudessa |
| BPTFbromodomain PHD finger transcription factor | Joskus (5–29%) | 1 sairaudessa |
| CAPRIN1cell cycle associated protein 1 | Joskus (5–29%) | 1 sairaudessa |
| CDC42BPBCDC42 binding protein kinase beta | Joskus (5–29%) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Joskus (5–29%) | 2 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Joskus (5–29%) | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Joskus (5–29%) | 1 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| GLB1galactosidase beta 1 | Joskus (5–29%) | 1 sairaudessa |
| GLI2GLI family zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM5Alysine demethylase 5A | Joskus (5–29%) | 1 sairaudessa |
| KLHL20kelch like family member 20 | Joskus (5–29%) | 1 sairaudessa |
| MAB21L1mab-21 like 1 | Joskus (5–29%) | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Joskus (5–29%) | 1 sairaudessa |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Joskus (5–29%) | 1 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Joskus (5–29%) | 1 sairaudessa |
| PURApurine rich element binding protein A | Joskus (5–29%) | 1 sairaudessa |
| RFX7regulatory factor X7 | Joskus (5–29%) | 1 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Joskus (5–29%) | 1 sairaudessa |
| SETSET nuclear proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SMG9SMG9 nonsense mediated mRNA decay factor | Joskus (5–29%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Joskus (5–29%) | 1 sairaudessa |
| SRCAPSnf2 related CREBBP activator protein | Joskus (5–29%) | 1 sairaudessa |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Joskus (5–29%) | 1 sairaudessa |
| TAF1TATA-box binding protein associated factor 1 | Joskus (5–29%) | 2 sairaudessa |
| TBC1D24TBC1 domain family member 24 | Joskus (5–29%) | 1 sairaudessa |
| TBX2T-box transcription factor 2 | Joskus (5–29%) | 1 sairaudessa |
| TOE1target of EGR1, exonuclease | Joskus (5–29%) | 1 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | Joskus (5–29%) | 1 sairaudessa |
| ZBTB20zinc finger and BTB domain containing 20 | Joskus (5–29%) | 1 sairaudessa |
| ZFXzinc finger protein X-linked | Joskus (5–29%) | 1 sairaudessa |
| ZMYM2zinc finger MYM-type containing 2 | Joskus (5–29%) | 1 sairaudessa |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ei kirjattu | 1 sairaudessa |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ei kirjattu | 1 sairaudessa |
| ALX3ALX homeobox 3 | Ei kirjattu | 1 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Ei kirjattu | 1 sairaudessa |
| CCNQcyclin Q | Ei kirjattu | 1 sairaudessa |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ei kirjattu | 1 sairaudessa |
| FLNBfilamin B | Ei kirjattu | 1 sairaudessa |
| HRASHRas proto-oncogene, GTPase | Ei kirjattu | 1 sairaudessa |
| IDUAalpha-L-iduronidase | Ei kirjattu | 1 sairaudessa |
| KDM6Alysine demethylase 6A | Ei kirjattu | 1 sairaudessa |
| KIF11kinesin family member 11 | Ei kirjattu | 1 sairaudessa |
| KPTNkaptin, actin binding protein | Ei kirjattu | 1 sairaudessa |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ei kirjattu | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Ei kirjattu | 1 sairaudessa |
| NXNnucleoredoxin | Ei kirjattu | 1 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ei kirjattu | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ei kirjattu | 1 sairaudessa |
| RARBretinoic acid receptor beta | Ei kirjattu | 1 sairaudessa |
| TBC1D32TBC1 domain family member 32 | Ei kirjattu | 1 sairaudessa |
| TFAP2Btranscription factor AP-2 beta | Ei kirjattu | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | 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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