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