Požymis
Permanent enlargement of the airways of the lungs
Klinikinis pavadinimas: Bronchiectasis
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Santrauka
- Kūno sistema
- Abnormality of the respiratory system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Permanent enlargement of the airways of the lungs, and the rest of your genome, with one test.
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Įsigyti savo Genome Test188 genų susiję su Permanent enlargement of the airways of the lungs
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Permanent enlargement of the airways of the lungs. 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 |
|---|---|---|
| ARHGEF1Rho guanine nucleotide exchange factor 1 | Visada | 1 ligoje |
| B2Mbeta-2-microglobulin | Visada | 1 ligoje |
| BRWD1bromodomain and WD repeat domain containing 1 | Visada | 2 ligose |
| CCNOcyclin O | Visada | 2 ligose |
| CFAP54cilia and flagella associated protein 54 | Visada | 1 ligoje |
| CFAP74cilia and flagella associated protein 74 | Visada | 2 ligose |
| CFTRCF transmembrane conductance regulator | Visada | 4 ligose |
| DNAAF1dynein axonemal assembly factor 1 | Visada | 2 ligose |
| DNAAF6dynein axonemal assembly factor 6 | Visada | 2 ligose |
| DNAH1dynein axonemal heavy chain 1 | Visada | 2 ligose |
| DNAH11dynein axonemal heavy chain 11 | Visada | 2 ligose |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Visada | 2 ligose |
| DRC2dynein regulatory complex subunit 2 | Visada | 2 ligose |
| FOXJ1forkhead box J1 | Visada | 2 ligose |
| HYDINHYDIN axonemal central pair apparatus protein | Visada | 2 ligose |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Visada | 1 ligoje |
| IKZF2IKAROS family zinc finger 2 | Visada | 2 ligose |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 2 ligose |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| MALT1MALT1 paracaspase | Visada | 1 ligoje |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Visada | 2 ligose |
| MPEG1macrophage expressed 1 | Visada | 1 ligoje |
| NEK10NIMA related kinase 10 | Visada | 2 ligose |
| NME5NME/NM23 family member 5 | Visada | 2 ligose |
| ODAD1outer dynein arm docking complex subunit 1 | Visada | 2 ligose |
| ODAD4outer dynein arm docking complex subunit 4 | Visada | 2 ligose |
| PLD4phospholipase D family member 4 | Visada | 1 ligoje |
| POLD1DNA polymerase delta 1, catalytic subunit | Visada | 1 ligoje |
| PTCRApre T cell antigen receptor alpha | Visada | 1 ligoje |
| RASGRP1RAS guanyl releasing protein 1 | Visada | 1 ligoje |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| RSPH3radial spoke head 3 | Visada | 2 ligose |
| SCNN1Asodium channel epithelial 1 subunit alpha | Visada | 2 ligose |
| SCNN1Bsodium channel epithelial 1 subunit beta | Visada | 2 ligose |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Visada | 2 ligose |
| SERPINA1serpin family A member 1 | Visada | 3 ligose |
| STK36serine/threonine kinase 36 | Visada | 2 ligose |
| STX3syntaxin 3 | Visada | 2 ligose |
| TAP2transporter 2, ATP binding cassette subfamily B member | Visada | 1 ligoje |
| TET2tet methylcytosine dioxygenase 2 | Visada | 1 ligoje |
Rodyti dar 148 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Labai dažnai (80–99%) | 2 ligose |
| CEACAM3CEA cell adhesion molecule 3 | Labai dažnai (80–99%) | 1 ligoje |
| CEACAM6CEA cell adhesion molecule 6 | Labai dažnai (80–99%) | 1 ligoje |
| CLCA4chloride channel accessory 4 | Labai dažnai (80–99%) | 1 ligoje |
| DCTN4dynactin subunit 4 | Labai dažnai (80–99%) | 1 ligoje |
| DNAH5dynein axonemal heavy chain 5 | Labai dažnai (80–99%) | 2 ligose |
| DNAI2dynein axonemal intermediate chain 2 | Labai dažnai (80–99%) | 2 ligose |
| EDNRAendothelin receptor type A | Labai dažnai (80–99%) | 1 ligoje |
| FCGR2AFc gamma receptor IIa | Labai dažnai (80–99%) | 1 ligoje |
| GCLCglutamate-cysteine ligase catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| GSTM3glutathione S-transferase mu 3 | Labai dažnai (80–99%) | 1 ligoje |
| HFEhomeostatic iron regulator | Labai dažnai (80–99%) | 1 ligoje |
| HMOX1heme oxygenase 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Labai dažnai (80–99%) | 1 ligoje |
| MIFmacrophage migration inhibitory factor | Labai dažnai (80–99%) | 1 ligoje |
| NCKAP1LNCK associated protein 1 like | Labai dažnai (80–99%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| RSPH9radial spoke head component 9 | Labai dažnai (80–99%) | 2 ligose |
| SLC11A1solute carrier family 11 member 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A9solute carrier family 26 member 9 | Labai dažnai (80–99%) | 1 ligoje |
| SLC6A14solute carrier family 6 member 14 | Labai dažnai (80–99%) | 1 ligoje |
| SLC9A3solute carrier family 9 member A3 | Labai dažnai (80–99%) | 1 ligoje |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Labai dažnai (80–99%) | 2 ligose |
| WFDC2WAP four-disulfide core domain 2 | Labai dažnai (80–99%) | 1 ligoje |
| ABCA3ATP binding cassette subfamily A member 3 | Dažnai (30–79%) | 1 ligoje |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Dažnai (30–79%) | 1 ligoje |
| ATP11AATPase phospholipid transporting 11A | Dažnai (30–79%) | 1 ligoje |
| BACH2BACH transcriptional regulator 2 | Dažnai (30–79%) | 1 ligoje |
| BTKBruton tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| C1QBcomplement C1q B chain | Dažnai (30–79%) | 1 ligoje |
| CARD10caspase recruitment domain family member 10 | Dažnai (30–79%) | 1 ligoje |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Dažnai (30–79%) | 1 ligoje |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Dažnai (30–79%) | 2 ligose |
| CFAP298cilia and flagella associated protein 298 | Dažnai (30–79%) | 2 ligose |
| DCLRE1CDNA cross-link repair 1C | Dažnai (30–79%) | 1 ligoje |
| DNAAF11dynein axonemal assembly factor 11 | Dažnai (30–79%) | 2 ligose |
| DNAAF4dynein axonemal assembly factor 4 | Dažnai (30–79%) | 2 ligose |
| DNAL1dynein axonemal light chain 1 | Dažnai (30–79%) | 2 ligose |
| DOCK8dedicator of cytokinesis 8 | Dažnai (30–79%) | 1 ligoje |
| DPP9dipeptidyl peptidase 9 | Dažnai (30–79%) | 1 ligoje |
| DSPdesmoplakin | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 2 ligose |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| FAM13Afamily with sequence similarity 13 member A | Dažnai (30–79%) | 1 ligoje |
| FNIP1folliculin interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| IL21Rinterleukin 21 receptor | Dažnai (30–79%) | 1 ligoje |
| LATlinker for activation of T cells | Dažnai (30–79%) | 1 ligoje |
| LRBALPS responsive beige-like anchor protein | Dažnai (30–79%) | 1 ligoje |
| LRRC56leucine rich repeat containing 56 | Dažnai (30–79%) | 2 ligose |
| MAGT1magnesium transporter 1 | Dažnai (30–79%) | 1 ligoje |
| MUC5Bmucin 5B, oligomeric mucus/gel-forming | Dažnai (30–79%) | 1 ligoje |
| NFKB2nuclear factor kappa B subunit 2 | Dažnai (30–79%) | 1 ligoje |
| ODAD2outer dynein arm docking complex subunit 2 | Dažnai (30–79%) | 2 ligose |
| ODAD3outer dynein arm docking complex subunit 3 | Dažnai (30–79%) | 2 ligose |
| PARNpoly(A)-specific ribonuclease | Dažnai (30–79%) | 1 ligoje |
| PGM3phosphoglucomutase 3 | Dažnai (30–79%) | 2 ligose |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 3 ligose |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Dažnai (30–79%) | 3 ligose |
| POLD3DNA polymerase delta 3, accessory subunit | Dažnai (30–79%) | 1 ligoje |
| RAC2Rac family small GTPase 2 | Dažnai (30–79%) | 1 ligoje |
| RFX5regulatory factor X5 | Dažnai (30–79%) | 1 ligoje |
| RIPK1receptor interacting serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| RSPH1radial spoke head component 1 | Dažnai (30–79%) | 2 ligose |
| RSPH4Aradial spoke head component 4A | Dažnai (30–79%) | 2 ligose |
| RTEL1regulator of telomere elongation helicase 1 | Dažnai (30–79%) | 1 ligoje |
| SFTPA1surfactant protein A1 | Dažnai (30–79%) | 1 ligoje |
| SFTPA2surfactant protein A2 | Dažnai (30–79%) | 1 ligoje |
| SFTPCsurfactant protein C | Dažnai (30–79%) | 2 ligose |
| SLC41A1solute carrier family 41 member 1 | Dažnai (30–79%) | 1 ligoje |
| SPAG1sperm associated antigen 1 | Dažnai (30–79%) | 2 ligose |
| STAT1signal transducer and activator of transcription 1 | Dažnai (30–79%) | 2 ligose |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| STK4serine/threonine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| STN1STN1 subunit of CST complex | Dažnai (30–79%) | 1 ligoje |
| TERCtelomerase RNA component | Dažnai (30–79%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Dažnai (30–79%) | 1 ligoje |
| TNFRSF9TNF receptor superfamily member 9 | Dažnai (30–79%) | 1 ligoje |
| TPP2tripeptidyl peptidase 2 | Dažnai (30–79%) | 1 ligoje |
| TRAF3TNF receptor associated factor 3 | Dažnai (30–79%) | 1 ligoje |
| TTC12tetratricopeptide repeat domain 12 | Dažnai (30–79%) | 2 ligose |
| UNC119unc-119 lipid binding chaperone | Dažnai (30–79%) | 1 ligoje |
| WDR1WD repeat domain 1 | Dažnai (30–79%) | 1 ligoje |
| ZMYND10zinc finger MYND-type containing 10 | Dažnai (30–79%) | 2 ligose |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Kartais (5–29%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Kartais (5–29%) | 1 ligoje |
| BLNKB cell linker | Kartais (5–29%) | 1 ligoje |
| BTNL2butyrophilin like 2 | Kartais (5–29%) | 2 ligose |
| CARD11caspase recruitment domain family member 11 | Kartais (5–29%) | 1 ligoje |
| CD79ACD79a molecule | Kartais (5–29%) | 1 ligoje |
| CD79BCD79b molecule | Kartais (5–29%) | 1 ligoje |
| CFAP221cilia and flagella associated protein 221 | Kartais (5–29%) | 2 ligose |
| CFAP300cilia and flagella associated protein 300 | Kartais (5–29%) | 2 ligose |
| CLXNcalaxin | Kartais (5–29%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Kartais (5–29%) | 2 ligose |
| CXCR4C-X-C motif chemokine receptor 4 | Kartais (5–29%) | 2 ligose |
| DAW1dynein assembly factor with WD repeats 1 | Kartais (5–29%) | 1 ligoje |
| DIAPH1diaphanous related formin 1 | Kartais (5–29%) | 2 ligose |
| DNAAF19dynein axonemal assembly factor 19 | Kartais (5–29%) | 2 ligose |
| DNAAF2dynein axonemal assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| DNAAF3dynein axonemal assembly factor 3 | Kartais (5–29%) | 2 ligose |
| DNAAF5dynein axonemal assembly factor 5 | Kartais (5–29%) | 1 ligoje |
| DNAH7dynein axonemal heavy chain 7 | Kartais (5–29%) | 1 ligoje |
| DNAH9dynein axonemal heavy chain 9 | Kartais (5–29%) | 1 ligoje |
| DNAI1dynein axonemal intermediate chain 1 | Kartais (5–29%) | 2 ligose |
| DRC1dynein regulatory complex subunit 1 | Kartais (5–29%) | 2 ligose |
| DRC4dynein regulatory complex subunit 4 | Kartais (5–29%) | 2 ligose |
| FBLN5fibulin 5 | Kartais (5–29%) | 1 ligoje |
| GAS2L2growth arrest specific 2 like 2 | Kartais (5–29%) | 2 ligose |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 2 ligose |
| IGHG2immunoglobulin heavy constant gamma 2 (G2m marker) | Kartais (5–29%) | 1 ligoje |
| IGHMimmunoglobulin heavy constant mu | Kartais (5–29%) | 2 ligose |
| IGKCimmunoglobulin kappa constant | Kartais (5–29%) | 1 ligoje |
| IGLL1immunoglobulin lambda like polypeptide 1 | Kartais (5–29%) | 1 ligoje |
| IRF4interferon regulatory factor 4 | Kartais (5–29%) | 1 ligoje |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Kartais (5–29%) | 1 ligoje |
| NBNnibrin | Kartais (5–29%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Kartais (5–29%) | 1 ligoje |
| NFKB1nuclear factor kappa B subunit 1 | Kartais (5–29%) | 1 ligoje |
| NME8NME/NM23 family member 8 | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Kartais (5–29%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Kartais (5–29%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Kartais (5–29%) | 1 ligoje |
| SASH3SAM and SH3 domain containing 3 | Kartais (5–29%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC34A2solute carrier family 34 member 2 | Kartais (5–29%) | 1 ligoje |
| SLF2SMC5/6 complex localization factor 2 | Kartais (5–29%) | 1 ligoje |
| SPEF2sperm flagellar and cilia associated 2 | Kartais (5–29%) | 1 ligoje |
| SPI1Spi-1 proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SYKspleen associated tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| TCF3transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| ATMATM serine/threonine kinase | Neužfiksuota | 1 ligoje |
| BLMBLM RecQ like helicase | Neužfiksuota | 1 ligoje |
| CD19CD19 molecule | Neužfiksuota | 1 ligoje |
| CD8ACD8 subunit alpha | Neužfiksuota | 1 ligoje |
| CR2complement C3d receptor 2 | Neužfiksuota | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Neužfiksuota | 1 ligoje |
| FOXN1forkhead box N1 | Neužfiksuota | 1 ligoje |
| ICOSinducible T cell costimulator | Neužfiksuota | 2 ligose |
| IRF8interferon regulatory factor 8 | Neužfiksuota | 1 ligoje |
| IRF9interferon regulatory factor 9 | Neužfiksuota | 1 ligoje |
| TAP1transporter 1, ATP binding cassette subfamily B member | Neužfiksuota | 1 ligoje |
| TNFRSF13BTNF receptor superfamily member 13B | Neužfiksuota | 1 ligoje |
| TNFRSF13CTNF receptor superfamily member 13C | Neužfiksuota | 1 ligoje |
| TP73tumor protein p73 | Neužfiksuota | 1 ligoje |
| ZNF341zinc finger protein 341 | 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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