Piirre
Permanent enlargement of the airways of the lungs
Kliininen nimi: Bronchiectasis
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Yhteenveto
- Elimistön järjestelmä
- Abnormality of the respiratory system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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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Tilaa Genome Test188 geeniä, jotka liittyvät piirteeseen Permanent enlargement of the airways of the lungs
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Permanent enlargement of the airways of the lungs 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 |
|---|---|---|
| ARHGEF1Rho guanine nucleotide exchange factor 1 | Aina | 1 sairaudessa |
| B2Mbeta-2-microglobulin | Aina | 1 sairaudessa |
| BRWD1bromodomain and WD repeat domain containing 1 | Aina | 2 sairaudessa |
| CCNOcyclin O | Aina | 2 sairaudessa |
| CFAP54cilia and flagella associated protein 54 | Aina | 1 sairaudessa |
| CFAP74cilia and flagella associated protein 74 | Aina | 2 sairaudessa |
| CFTRCF transmembrane conductance regulator | Aina | 4 sairaudessa |
| DNAAF1dynein axonemal assembly factor 1 | Aina | 2 sairaudessa |
| DNAAF6dynein axonemal assembly factor 6 | Aina | 2 sairaudessa |
| DNAH1dynein axonemal heavy chain 1 | Aina | 2 sairaudessa |
| DNAH11dynein axonemal heavy chain 11 | Aina | 2 sairaudessa |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Aina | 2 sairaudessa |
| DRC2dynein regulatory complex subunit 2 | Aina | 2 sairaudessa |
| FOXJ1forkhead box J1 | Aina | 2 sairaudessa |
| HYDINHYDIN axonemal central pair apparatus protein | Aina | 2 sairaudessa |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Aina | 1 sairaudessa |
| IKZF2IKAROS family zinc finger 2 | Aina | 2 sairaudessa |
| IL6STinterleukin 6 cytokine family signal transducer | Aina | 2 sairaudessa |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Aina | 1 sairaudessa |
| MALT1MALT1 paracaspase | Aina | 1 sairaudessa |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Aina | 2 sairaudessa |
| MPEG1macrophage expressed 1 | Aina | 1 sairaudessa |
| NEK10NIMA related kinase 10 | Aina | 2 sairaudessa |
| NME5NME/NM23 family member 5 | Aina | 2 sairaudessa |
| ODAD1outer dynein arm docking complex subunit 1 | Aina | 2 sairaudessa |
| ODAD4outer dynein arm docking complex subunit 4 | Aina | 2 sairaudessa |
| PLD4phospholipase D family member 4 | Aina | 1 sairaudessa |
| POLD1DNA polymerase delta 1, catalytic subunit | Aina | 1 sairaudessa |
| PTCRApre T cell antigen receptor alpha | Aina | 1 sairaudessa |
| RASGRP1RAS guanyl releasing protein 1 | Aina | 1 sairaudessa |
| RNU6ATACRNA, U6atac small nuclear | Aina | 1 sairaudessa |
| RSPH3radial spoke head 3 | Aina | 2 sairaudessa |
| SCNN1Asodium channel epithelial 1 subunit alpha | Aina | 2 sairaudessa |
| SCNN1Bsodium channel epithelial 1 subunit beta | Aina | 2 sairaudessa |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Aina | 2 sairaudessa |
| SERPINA1serpin family A member 1 | Aina | 3 sairaudessa |
| STK36serine/threonine kinase 36 | Aina | 2 sairaudessa |
| STX3syntaxin 3 | Aina | 2 sairaudessa |
| TAP2transporter 2, ATP binding cassette subfamily B member | Aina | 1 sairaudessa |
| TET2tet methylcytosine dioxygenase 2 | Aina | 1 sairaudessa |
Näytä 148 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Hyvin usein (80–99%) | 2 sairaudessa |
| CEACAM3CEA cell adhesion molecule 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| CEACAM6CEA cell adhesion molecule 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| CLCA4chloride channel accessory 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| DCTN4dynactin subunit 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| DNAH5dynein axonemal heavy chain 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| DNAI2dynein axonemal intermediate chain 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| EDNRAendothelin receptor type A | Hyvin usein (80–99%) | 1 sairaudessa |
| FCGR2AFc gamma receptor IIa | Hyvin usein (80–99%) | 1 sairaudessa |
| GCLCglutamate-cysteine ligase catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| GSTM3glutathione S-transferase mu 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| HFEhomeostatic iron regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| HMOX1heme oxygenase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| MIFmacrophage migration inhibitory factor | Hyvin usein (80–99%) | 1 sairaudessa |
| NCKAP1LNCK associated protein 1 like | Hyvin usein (80–99%) | 1 sairaudessa |
| POLA1DNA polymerase alpha 1, catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| RSPH9radial spoke head component 9 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC11A1solute carrier family 11 member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC26A9solute carrier family 26 member 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC6A14solute carrier family 6 member 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC9A3solute carrier family 9 member A3 | Hyvin usein (80–99%) | 1 sairaudessa |
| STX1Asyntaxin 1A | Hyvin usein (80–99%) | 1 sairaudessa |
| TGFB1transforming growth factor beta 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| WFDC2WAP four-disulfide core domain 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ABCA3ATP binding cassette subfamily A member 3 | Usein (30–79%) | 1 sairaudessa |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Usein (30–79%) | 1 sairaudessa |
| ATP11AATPase phospholipid transporting 11A | Usein (30–79%) | 1 sairaudessa |
| BACH2BACH transcriptional regulator 2 | Usein (30–79%) | 1 sairaudessa |
| BTKBruton tyrosine kinase | Usein (30–79%) | 1 sairaudessa |
| C1QBcomplement C1q B chain | Usein (30–79%) | 1 sairaudessa |
| CARD10caspase recruitment domain family member 10 | Usein (30–79%) | 1 sairaudessa |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Usein (30–79%) | 1 sairaudessa |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Usein (30–79%) | 2 sairaudessa |
| CFAP298cilia and flagella associated protein 298 | Usein (30–79%) | 2 sairaudessa |
| DCLRE1CDNA cross-link repair 1C | Usein (30–79%) | 1 sairaudessa |
| DNAAF11dynein axonemal assembly factor 11 | Usein (30–79%) | 2 sairaudessa |
| DNAAF4dynein axonemal assembly factor 4 | Usein (30–79%) | 2 sairaudessa |
| DNAL1dynein axonemal light chain 1 | Usein (30–79%) | 2 sairaudessa |
| DOCK8dedicator of cytokinesis 8 | Usein (30–79%) | 1 sairaudessa |
| DPP9dipeptidyl peptidase 9 | Usein (30–79%) | 1 sairaudessa |
| DSPdesmoplakin | Usein (30–79%) | 1 sairaudessa |
| ELNelastin | Usein (30–79%) | 2 sairaudessa |
| EMILIN1elastin microfibril interfacer 1 | Usein (30–79%) | 1 sairaudessa |
| FAM13Afamily with sequence similarity 13 member A | Usein (30–79%) | 1 sairaudessa |
| FNIP1folliculin interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| IL21Rinterleukin 21 receptor | Usein (30–79%) | 1 sairaudessa |
| LATlinker for activation of T cells | Usein (30–79%) | 1 sairaudessa |
| LRBALPS responsive beige-like anchor protein | Usein (30–79%) | 1 sairaudessa |
| LRRC56leucine rich repeat containing 56 | Usein (30–79%) | 2 sairaudessa |
| MAGT1magnesium transporter 1 | Usein (30–79%) | 1 sairaudessa |
| MUC5Bmucin 5B, oligomeric mucus/gel-forming | Usein (30–79%) | 1 sairaudessa |
| NFKB2nuclear factor kappa B subunit 2 | Usein (30–79%) | 1 sairaudessa |
| ODAD2outer dynein arm docking complex subunit 2 | Usein (30–79%) | 2 sairaudessa |
| ODAD3outer dynein arm docking complex subunit 3 | Usein (30–79%) | 2 sairaudessa |
| PARNpoly(A)-specific ribonuclease | Usein (30–79%) | 1 sairaudessa |
| PGM3phosphoglucomutase 3 | Usein (30–79%) | 2 sairaudessa |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Usein (30–79%) | 3 sairaudessa |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Usein (30–79%) | 3 sairaudessa |
| POLD3DNA polymerase delta 3, accessory subunit | Usein (30–79%) | 1 sairaudessa |
| RAC2Rac family small GTPase 2 | Usein (30–79%) | 1 sairaudessa |
| RFX5regulatory factor X5 | Usein (30–79%) | 1 sairaudessa |
| RIPK1receptor interacting serine/threonine kinase 1 | Usein (30–79%) | 1 sairaudessa |
| RSPH1radial spoke head component 1 | Usein (30–79%) | 2 sairaudessa |
| RSPH4Aradial spoke head component 4A | Usein (30–79%) | 2 sairaudessa |
| RTEL1regulator of telomere elongation helicase 1 | Usein (30–79%) | 1 sairaudessa |
| SFTPA1surfactant protein A1 | Usein (30–79%) | 1 sairaudessa |
| SFTPA2surfactant protein A2 | Usein (30–79%) | 1 sairaudessa |
| SFTPCsurfactant protein C | Usein (30–79%) | 2 sairaudessa |
| SLC41A1solute carrier family 41 member 1 | Usein (30–79%) | 1 sairaudessa |
| SPAG1sperm associated antigen 1 | Usein (30–79%) | 2 sairaudessa |
| STAT1signal transducer and activator of transcription 1 | Usein (30–79%) | 2 sairaudessa |
| STAT3signal transducer and activator of transcription 3 | Usein (30–79%) | 1 sairaudessa |
| STK4serine/threonine kinase 4 | Usein (30–79%) | 1 sairaudessa |
| STN1STN1 subunit of CST complex | Usein (30–79%) | 1 sairaudessa |
| TERCtelomerase RNA component | Usein (30–79%) | 1 sairaudessa |
| TERTtelomerase reverse transcriptase | Usein (30–79%) | 1 sairaudessa |
| TNFRSF9TNF receptor superfamily member 9 | Usein (30–79%) | 1 sairaudessa |
| TPP2tripeptidyl peptidase 2 | Usein (30–79%) | 1 sairaudessa |
| TRAF3TNF receptor associated factor 3 | Usein (30–79%) | 1 sairaudessa |
| TTC12tetratricopeptide repeat domain 12 | Usein (30–79%) | 2 sairaudessa |
| UNC119unc-119 lipid binding chaperone | Usein (30–79%) | 1 sairaudessa |
| WDR1WD repeat domain 1 | Usein (30–79%) | 1 sairaudessa |
| ZMYND10zinc finger MYND-type containing 10 | Usein (30–79%) | 2 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Joskus (5–29%) | 1 sairaudessa |
| ARL2BPARF like GTPase 2 binding protein | Joskus (5–29%) | 1 sairaudessa |
| BLNKB cell linker | Joskus (5–29%) | 1 sairaudessa |
| BTNL2butyrophilin like 2 | Joskus (5–29%) | 2 sairaudessa |
| CARD11caspase recruitment domain family member 11 | Joskus (5–29%) | 1 sairaudessa |
| CD79ACD79a molecule | Joskus (5–29%) | 1 sairaudessa |
| CD79BCD79b molecule | Joskus (5–29%) | 1 sairaudessa |
| CFAP221cilia and flagella associated protein 221 | Joskus (5–29%) | 2 sairaudessa |
| CFAP300cilia and flagella associated protein 300 | Joskus (5–29%) | 2 sairaudessa |
| CLXNcalaxin | Joskus (5–29%) | 1 sairaudessa |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Joskus (5–29%) | 2 sairaudessa |
| CXCR4C-X-C motif chemokine receptor 4 | Joskus (5–29%) | 2 sairaudessa |
| DAW1dynein assembly factor with WD repeats 1 | Joskus (5–29%) | 1 sairaudessa |
| DIAPH1diaphanous related formin 1 | Joskus (5–29%) | 2 sairaudessa |
| DNAAF19dynein axonemal assembly factor 19 | Joskus (5–29%) | 2 sairaudessa |
| DNAAF2dynein axonemal assembly factor 2 | Joskus (5–29%) | 1 sairaudessa |
| DNAAF3dynein axonemal assembly factor 3 | Joskus (5–29%) | 2 sairaudessa |
| DNAAF5dynein axonemal assembly factor 5 | Joskus (5–29%) | 1 sairaudessa |
| DNAH7dynein axonemal heavy chain 7 | Joskus (5–29%) | 1 sairaudessa |
| DNAH9dynein axonemal heavy chain 9 | Joskus (5–29%) | 1 sairaudessa |
| DNAI1dynein axonemal intermediate chain 1 | Joskus (5–29%) | 2 sairaudessa |
| DRC1dynein regulatory complex subunit 1 | Joskus (5–29%) | 2 sairaudessa |
| DRC4dynein regulatory complex subunit 4 | Joskus (5–29%) | 2 sairaudessa |
| FBLN5fibulin 5 | Joskus (5–29%) | 1 sairaudessa |
| GAS2L2growth arrest specific 2 like 2 | Joskus (5–29%) | 2 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Joskus (5–29%) | 2 sairaudessa |
| IGHG2immunoglobulin heavy constant gamma 2 (G2m marker) | Joskus (5–29%) | 1 sairaudessa |
| IGHMimmunoglobulin heavy constant mu | Joskus (5–29%) | 2 sairaudessa |
| IGKCimmunoglobulin kappa constant | Joskus (5–29%) | 1 sairaudessa |
| IGLL1immunoglobulin lambda like polypeptide 1 | Joskus (5–29%) | 1 sairaudessa |
| IRF4interferon regulatory factor 4 | Joskus (5–29%) | 1 sairaudessa |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Joskus (5–29%) | 1 sairaudessa |
| NBNnibrin | Joskus (5–29%) | 1 sairaudessa |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Joskus (5–29%) | 1 sairaudessa |
| NFKB1nuclear factor kappa B subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| NME8NME/NM23 family member 8 | Joskus (5–29%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Joskus (5–29%) | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Joskus (5–29%) | 1 sairaudessa |
| POLEDNA polymerase epsilon, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| RIN2Ras and Rab interactor 2 | Joskus (5–29%) | 1 sairaudessa |
| RPGRretinitis pigmentosa GTPase regulator | Joskus (5–29%) | 1 sairaudessa |
| SASH3SAM and SH3 domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC29A3solute carrier family 29 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC34A2solute carrier family 34 member 2 | Joskus (5–29%) | 1 sairaudessa |
| SLF2SMC5/6 complex localization factor 2 | Joskus (5–29%) | 1 sairaudessa |
| SPEF2sperm flagellar and cilia associated 2 | Joskus (5–29%) | 1 sairaudessa |
| SPI1Spi-1 proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SYKspleen associated tyrosine kinase | Joskus (5–29%) | 1 sairaudessa |
| TCF3transcription factor 3 | Joskus (5–29%) | 1 sairaudessa |
| ATMATM serine/threonine kinase | Ei kirjattu | 1 sairaudessa |
| BLMBLM RecQ like helicase | Ei kirjattu | 1 sairaudessa |
| CD19CD19 molecule | Ei kirjattu | 1 sairaudessa |
| CD8ACD8 subunit alpha | Ei kirjattu | 1 sairaudessa |
| CR2complement C3d receptor 2 | Ei kirjattu | 1 sairaudessa |
| DNMT3BDNA methyltransferase 3 beta | Ei kirjattu | 1 sairaudessa |
| FOXN1forkhead box N1 | Ei kirjattu | 1 sairaudessa |
| ICOSinducible T cell costimulator | Ei kirjattu | 2 sairaudessa |
| IRF8interferon regulatory factor 8 | Ei kirjattu | 1 sairaudessa |
| IRF9interferon regulatory factor 9 | Ei kirjattu | 1 sairaudessa |
| TAP1transporter 1, ATP binding cassette subfamily B member | Ei kirjattu | 1 sairaudessa |
| TNFRSF13BTNF receptor superfamily member 13B | Ei kirjattu | 1 sairaudessa |
| TNFRSF13CTNF receptor superfamily member 13C | Ei kirjattu | 1 sairaudessa |
| TP73tumor protein p73 | Ei kirjattu | 1 sairaudessa |
| ZNF341zinc finger protein 341 | 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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