Cecha
Conductive deafness
Nazwa kliniczna: Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Podsumowanie
- Znana także jako
- Conductive hearing loss, Conduction deafness, Hearing loss, conductive
- Układ organizmu
- Abnormality of the ear
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Conductive deafness, and the rest of your genome, with one test.
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Zamawiam Genome Test379 genów powiązanych z Conductive deafness
Zmiany w tych genach powodują rzadkie choroby, w których występuje Conductive deafness. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ALPK3alpha kinase 3 | Zawsze | W 1 chorobie |
| AMMECR1AMMECR nuclear protein 1 | Zawsze | W 1 chorobie |
| DCHS1dachsous cadherin-related 1 | Zawsze | W 2 chorobach |
| EDNRAendothelin receptor type A | Zawsze | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Zawsze | W 5 chorobach |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Zawsze | W 1 chorobie |
| GSCgoosecoid homeobox | Zawsze | W 1 chorobie |
| KICS2KICSTOR subunit 2 | Zawsze | W 1 chorobie |
| NOTCH2notch receptor 2 | Zawsze | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Zawsze | W 4 chorobach |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Zawsze | W 1 chorobie |
| POLR1CRNA polymerase I and III subunit C | Zawsze | W 2 chorobach |
| RNU5B-1RNA, U5B small nuclear 1 | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
| TSR2TSR2 ribosome maturation factor | Zawsze | W 1 chorobie |
| ABCA4ATP binding cassette subfamily A member 4 | Bardzo często (80–99%) | W 1 chorobie |
| AGBL5AGBL carboxypeptidase 5 | Bardzo często (80–99%) | W 1 chorobie |
| AHI1Abelson helper integration site 1 | Bardzo często (80–99%) | W 1 chorobie |
| AHRaryl hydrocarbon receptor | Bardzo często (80–99%) | W 1 chorobie |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Bardzo często (80–99%) | W 1 chorobie |
| ARL2BPARF like GTPase 2 binding protein | Bardzo często (80–99%) | W 1 chorobie |
| ARL3ARF like GTPase 3 | Bardzo często (80–99%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Bardzo często (80–99%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Bardzo często (80–99%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Bardzo często (80–99%) | W 1 chorobie |
| BBS2Bardet-Biedl syndrome 2 | Bardzo często (80–99%) | W 1 chorobie |
| BEST1bestrophin 1 | Bardzo często (80–99%) | W 1 chorobie |
| CA4carbonic anhydrase 4 | Bardzo często (80–99%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Bardzo często (80–99%) | W 1 chorobie |
| CDHR1cadherin related family member 1 | Bardzo często (80–99%) | W 1 chorobie |
| CERKLCERK like autophagy regulator | Bardzo często (80–99%) | W 1 chorobie |
| CFAP20cilia and flagella associated protein 20 | Bardzo często (80–99%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Bardzo często (80–99%) | W 1 chorobie |
| CLRN1clarin 1 | Bardzo często (80–99%) | W 1 chorobie |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| COQ8Bcoenzyme Q8B | Bardzo często (80–99%) | W 1 chorobie |
| CRB1crumbs cell polarity complex component 1 | Bardzo często (80–99%) | W 1 chorobie |
| CRXcone-rod homeobox | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 339 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| DHDDSdehydrodolichyl diphosphate synthase subunit | Bardzo często (80–99%) | W 1 chorobie |
| DHX38DEAH-box helicase 38 | Bardzo często (80–99%) | W 1 chorobie |
| EYSEGF-like photoreceptor maintenance factor | Bardzo często (80–99%) | W 1 chorobie |
| FAM161AFAM161 centrosomal protein A | Bardzo często (80–99%) | W 1 chorobie |
| FGF9fibroblast growth factor 9 | Bardzo często (80–99%) | W 1 chorobie |
| FSCN2fascin actin-bundling protein 2, retinal | Bardzo często (80–99%) | W 1 chorobie |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Bardzo często (80–99%) | W 1 chorobie |
| GDF5growth differentiation factor 5 | Bardzo często (80–99%) | W 1 chorobie |
| GDF6growth differentiation factor 6 | Bardzo często (80–99%) | W 2 chorobach |
| GP1BBglycoprotein Ib platelet subunit beta | Bardzo często (80–99%) | W 1 chorobie |
| GUCA1Bguanylate cyclase activator 1B | Bardzo często (80–99%) | W 1 chorobie |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Bardzo często (80–99%) | W 1 chorobie |
| HKDC1hexokinase domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Bardzo często (80–99%) | W 1 chorobie |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Bardzo często (80–99%) | W 1 chorobie |
| IFT140intraflagellar transport 140 | Bardzo często (80–99%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Bardzo często (80–99%) | W 1 chorobie |
| IFT43intraflagellar transport 43 | Bardzo często (80–99%) | W 1 chorobie |
| IFT88intraflagellar transport 88 | Bardzo często (80–99%) | W 1 chorobie |
| IMPDH1inosine monophosphate dehydrogenase 1 | Bardzo często (80–99%) | W 1 chorobie |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Bardzo często (80–99%) | W 1 chorobie |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Bardzo często (80–99%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Bardzo często (80–99%) | W 1 chorobie |
| KIAA1549KIAA1549 | Bardzo często (80–99%) | W 1 chorobie |
| KIZkizuna centrosomal protein | Bardzo często (80–99%) | W 1 chorobie |
| KLHL7kelch like family member 7 | Bardzo często (80–99%) | W 1 chorobie |
| LMNAlamin A/C | Bardzo często (80–99%) | W 1 chorobie |
| LRATlecithin retinol acyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| MAKmale germ cell associated kinase | Bardzo często (80–99%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Bardzo często (80–99%) | W 4 chorobach |
| MERTKMER proto-oncogene, tyrosine kinase | Bardzo często (80–99%) | W 1 chorobie |
| NEK2NIMA related kinase 2 | Bardzo często (80–99%) | W 1 chorobie |
| NOGnoggin | Bardzo często (80–99%) | W 4 chorobach |
| NOTCH3notch receptor 3 | Bardzo często (80–99%) | W 2 chorobach |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Bardzo często (80–99%) | W 1 chorobie |
| NRLneural retina leucine zipper | Bardzo często (80–99%) | W 1 chorobie |
| PCAREphotoreceptor cilium actin regulator | Bardzo często (80–99%) | W 1 chorobie |
| PDE6Aphosphodiesterase 6A | Bardzo często (80–99%) | W 1 chorobie |
| PDE6Bphosphodiesterase 6B | Bardzo często (80–99%) | W 1 chorobie |
| PDE6Gphosphodiesterase 6G | Bardzo często (80–99%) | W 1 chorobie |
| POLR1BRNA polymerase I subunit B | Bardzo często (80–99%) | W 2 chorobach |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Bardzo często (80–99%) | W 1 chorobie |
| PRCDphotoreceptor disc component | Bardzo często (80–99%) | W 1 chorobie |
| PROM1prominin 1 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF3pre-mRNA processing factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF31pre-mRNA processing factor 31 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF6pre-mRNA processing factor 6 | Bardzo często (80–99%) | W 1 chorobie |
| PRPF8pre-mRNA processing factor 8 | Bardzo często (80–99%) | W 1 chorobie |
| PRPH2peripherin 2 | Bardzo często (80–99%) | W 1 chorobie |
| RBP3retinol binding protein 3 | Bardzo często (80–99%) | W 1 chorobie |
| RDH12retinol dehydrogenase 12 | Bardzo często (80–99%) | W 1 chorobie |
| REEP6receptor accessory protein 6 | Bardzo często (80–99%) | W 1 chorobie |
| RGRretinal G protein coupled receptor | Bardzo często (80–99%) | W 1 chorobie |
| RHOrhodopsin | Bardzo często (80–99%) | W 1 chorobie |
| RLBP1retinaldehyde binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNU6-1RNA, U6 small nuclear 1 | Bardzo często (80–99%) | W 1 chorobie |
| RNU6-2RNA, U6 small nuclear 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNU6-8RNA, U6 small nuclear 8 | Bardzo często (80–99%) | W 1 chorobie |
| RNU6-9RNA, U6 small nuclear 9 | Bardzo często (80–99%) | W 1 chorobie |
| ROM1retinal outer segment membrane protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| RP1RP1 axonemal microtubule associated | Bardzo często (80–99%) | W 1 chorobie |
| RP1L1RP1 like 1 | Bardzo często (80–99%) | W 1 chorobie |
| RP2RP2 activator of ARL3 GTPase | Bardzo często (80–99%) | W 1 chorobie |
| RP9RP9 pre-mRNA splicing factor | Bardzo często (80–99%) | W 1 chorobie |
| RPE65retinoid isomerohydrolase RPE65 | Bardzo często (80–99%) | W 1 chorobie |
| RPGRretinitis pigmentosa GTPase regulator | Bardzo często (80–99%) | W 2 chorobach |
| RREB1ras responsive element binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| SAGS-antigen visual arrestin | Bardzo często (80–99%) | W 1 chorobie |
| SAXO6stabilizer of axonemal microtubules 6 | Bardzo często (80–99%) | W 1 chorobie |
| SCAPERS-phase cyclin A associated protein in the ER | Bardzo często (80–99%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Bardzo często (80–99%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Bardzo często (80–99%) | W 1 chorobie |
| SETD2SET domain containing 2, histone lysine methyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| SF3B4splicing factor 3b subunit 4 | Bardzo często (80–99%) | W 1 chorobie |
| SLC25A24solute carrier family 25 member 24 | Bardzo często (80–99%) | W 2 chorobach |
| SLC7A14solute carrier family 7 member 14 | Bardzo często (80–99%) | W 1 chorobie |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Bardzo często (80–99%) | W 1 chorobie |
| SPATA7spermatogenesis associated 7 | Bardzo często (80–99%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| TCOF1treacle ribosome biogenesis factor 1 | Bardzo często (80–99%) | W 2 chorobach |
| TCTN3tectonic family member 3 | Bardzo często (80–99%) | W 2 chorobach |
| TFAP2Atranscription factor AP-2 alpha | Bardzo często (80–99%) | W 2 chorobach |
| TMEM216transmembrane protein 216 | Bardzo często (80–99%) | W 2 chorobach |
| TNFRSF11ATNF receptor superfamily member 11a | Bardzo często (80–99%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Bardzo często (80–99%) | W 2 chorobach |
| TTC8tetratricopeptide repeat domain 8 | Bardzo często (80–99%) | W 1 chorobie |
| TUBTUB bipartite transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| TULP1TUB like protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Bardzo często (80–99%) | W 1 chorobie |
| USH2Ausherin | Bardzo często (80–99%) | W 1 chorobie |
| ZBTB20zinc finger and BTB domain containing 20 | Bardzo często (80–99%) | W 1 chorobie |
| ZMPSTE24zinc metallopeptidase STE24 | Bardzo często (80–99%) | W 1 chorobie |
| ZNF408zinc finger protein 408 | Bardzo często (80–99%) | W 1 chorobie |
| ZNF513zinc finger protein 513 | Bardzo często (80–99%) | W 1 chorobie |
| ADAMTSL2ADAMTS like 2 | Często (30–79%) | W 1 chorobie |
| ALX1ALX homeobox 1 | Często (30–79%) | W 1 chorobie |
| AMER1APC membrane recruitment protein 1 | Często (30–79%) | W 2 chorobach |
| BMP2bone morphogenetic protein 2 | Często (30–79%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Często (30–79%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Często (30–79%) | W 1 chorobie |
| CDH1cadherin 1 | Często (30–79%) | W 2 chorobach |
| COG1component of oligomeric golgi complex 1 | Często (30–79%) | W 1 chorobie |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Często (30–79%) | W 2 chorobach |
| CPLX1complexin 1 | Często (30–79%) | W 2 chorobach |
| CTBP1C-terminal binding protein 1 | Często (30–79%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Często (30–79%) | W 1 chorobie |
| CTNND1catenin delta 1 | Często (30–79%) | W 1 chorobie |
| DDR2discoidin domain receptor tyrosine kinase 2 | Często (30–79%) | W 1 chorobie |
| DHODHdihydroorotate dehydrogenase (quinone) | Często (30–79%) | W 2 chorobach |
| DVL1dishevelled segment polarity protein 1 | Często (30–79%) | W 1 chorobie |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Często (30–79%) | W 4 chorobach |
| FAM149B1family with sequence similarity 149 member B1 | Często (30–79%) | W 1 chorobie |
| FANCFFA complementation group F | Często (30–79%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Często (30–79%) | W 3 chorobach |
| FBN1fibrillin 1 | Często (30–79%) | W 2 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Często (30–79%) | W 4 chorobach |
| FGFRL1fibroblast growth factor receptor like 1 | Często (30–79%) | W 1 chorobie |
| FLNAfilamin A | Często (30–79%) | W 3 chorobach |
| FOXL1forkhead box L1 | Często (30–79%) | W 1 chorobie |
| FRAS1Fraser extracellular matrix complex subunit 1 | Często (30–79%) | W 2 chorobach |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 3 chorobach |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Często (30–79%) | W 2 chorobach |
| HAX1HCLS1 associated protein X-1 | Często (30–79%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Często (30–79%) | W 1 chorobie |
| HYAL2hyaluronidase 2 | Często (30–79%) | W 1 chorobie |
| IL11RAinterleukin 11 receptor subunit alpha | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 1 chorobie |
| KIAA0753KIAA0753 | Często (30–79%) | W 1 chorobie |
| KIF7kinesin family member 7 | Często (30–79%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 2 chorobach |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Często (30–79%) | W 1 chorobie |
| LTBP3latent transforming growth factor beta binding protein 3 | Często (30–79%) | W 1 chorobie |
| MASP1MBL associated serine protease 1 | Często (30–79%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Często (30–79%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Często (30–79%) | W 2 chorobach |
| NFIXnuclear factor I X | Często (30–79%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Często (30–79%) | W 2 chorobach |
| NSD2nuclear receptor binding SET domain protein 2 | Często (30–79%) | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Często (30–79%) | W 1 chorobie |
| PDE6Dphosphodiesterase 6D | Często (30–79%) | W 1 chorobie |
| POLR1DRNA polymerase I and III subunit D | Często (30–79%) | W 2 chorobach |
| POU3F4POU class 3 homeobox 4 | Często (30–79%) | W 2 chorobach |
| PRDM5PR/SET domain 5 | Często (30–79%) | W 1 chorobie |
| PTH1Rparathyroid hormone 1 receptor | Często (30–79%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Często (30–79%) | W 2 chorobach |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Często (30–79%) | W 1 chorobie |
| SIX1SIX homeobox 1 | Często (30–79%) | W 4 chorobach |
| SIX5SIX homeobox 5 | Często (30–79%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Często (30–79%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Często (30–79%) | W 1 chorobie |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Często (30–79%) | W 2 chorobach |
| SOSTsclerostin | Często (30–79%) | W 1 chorobie |
| SOX9SRY-box transcription factor 9 | Często (30–79%) | W 1 chorobie |
| SP7Sp7 transcription factor | Często (30–79%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 1 chorobie |
| ZNF469zinc finger protein 469 | Często (30–79%) | W 1 chorobie |
| ABCC6ATP binding cassette subfamily C member 6 | Czasami (5–29%) | W 1 chorobie |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Czasami (5–29%) | W 1 chorobie |
| AFF4ALF transcription elongation factor 4 | Czasami (5–29%) | W 1 chorobie |
| ANKHANKH inorganic pyrophosphate transport regulator | Czasami (5–29%) | W 1 chorobie |
| ARHGAP29Rho GTPase activating protein 29 | Czasami (5–29%) | W 1 chorobie |
| ARHGEF38Rho guanine nucleotide exchange factor 38 | Czasami (5–29%) | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Czasami (5–29%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Czasami (5–29%) | W 1 chorobie |
| BMP4bone morphogenetic protein 4 | Czasami (5–29%) | W 1 chorobie |
| BORCS5BLOC-1 related complex subunit 5 | Czasami (5–29%) | W 1 chorobie |
| BRWD1bromodomain and WD repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| CASZ1castor zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| CCBE1collagen and calcium binding EGF domains 1 | Czasami (5–29%) | W 2 chorobach |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Czasami (5–29%) | W 1 chorobie |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Czasami (5–29%) | W 1 chorobie |
| CCNOcyclin O | Czasami (5–29%) | W 1 chorobie |
| CFAP221cilia and flagella associated protein 221 | Czasami (5–29%) | W 1 chorobie |
| CFAP298cilia and flagella associated protein 298 | Czasami (5–29%) | W 1 chorobie |
| CFAP300cilia and flagella associated protein 300 | Czasami (5–29%) | W 2 chorobach |
| CFAP74cilia and flagella associated protein 74 | Czasami (5–29%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Czasami (5–29%) | W 2 chorobach |
| CLXNcalaxin | Czasami (5–29%) | W 1 chorobie |
| CNOT3CCR4-NOT transcription complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| COBLL1cordon-bleu WH2 repeat protein like 1 | Czasami (5–29%) | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Czasami (5–29%) | W 3 chorobach |
| CREBBPCREB binding lysine acetyltransferase | Czasami (5–29%) | W 2 chorobach |
| DAW1dynein assembly factor with WD repeats 1 | Czasami (5–29%) | W 1 chorobie |
| DLG1discs large MAGUK scaffold protein 1 | Czasami (5–29%) | W 1 chorobie |
| DLSTdihydrolipoamide S-succinyltransferase | Czasami (5–29%) | W 1 chorobie |
| DLX4distal-less homeobox 4 | Czasami (5–29%) | W 1 chorobie |
| DNAAF1dynein axonemal assembly factor 1 | Czasami (5–29%) | W 1 chorobie |
| DNAAF11dynein axonemal assembly factor 11 | Czasami (5–29%) | W 1 chorobie |
| DNAAF19dynein axonemal assembly factor 19 | Czasami (5–29%) | W 1 chorobie |
| DNAAF2dynein axonemal assembly factor 2 | Czasami (5–29%) | W 1 chorobie |
| DNAAF3dynein axonemal assembly factor 3 | Czasami (5–29%) | W 1 chorobie |
| DNAAF4dynein axonemal assembly factor 4 | Czasami (5–29%) | W 1 chorobie |
| DNAAF5dynein axonemal assembly factor 5 | Czasami (5–29%) | W 1 chorobie |
| DNAAF6dynein axonemal assembly factor 6 | Czasami (5–29%) | W 1 chorobie |
| DNAH1dynein axonemal heavy chain 1 | Czasami (5–29%) | W 1 chorobie |
| DNAH11dynein axonemal heavy chain 11 | Czasami (5–29%) | W 1 chorobie |
| DNAH5dynein axonemal heavy chain 5 | Czasami (5–29%) | W 1 chorobie |
| DNAH7dynein axonemal heavy chain 7 | Czasami (5–29%) | W 1 chorobie |
| DNAH9dynein axonemal heavy chain 9 | Czasami (5–29%) | W 1 chorobie |
| DNAI1dynein axonemal intermediate chain 1 | Czasami (5–29%) | W 2 chorobach |
| DNAI2dynein axonemal intermediate chain 2 | Czasami (5–29%) | W 1 chorobie |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Czasami (5–29%) | W 1 chorobie |
| DNAL1dynein axonemal light chain 1 | Czasami (5–29%) | W 1 chorobie |
| DNMT3ADNA methyltransferase 3 alpha | Czasami (5–29%) | W 1 chorobie |
| DOT1LDOT1 like histone lysine methyltransferase | Czasami (5–29%) | W 1 chorobie |
| DRC1dynein regulatory complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| DRC2dynein regulatory complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| DRC4dynein regulatory complex subunit 4 | Czasami (5–29%) | W 2 chorobach |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Czasami (5–29%) | W 2 chorobach |
| EIF5Aeukaryotic translation initiation factor 5A | Czasami (5–29%) | W 1 chorobie |
| ELMO2engulfment and cell motility 2 | Czasami (5–29%) | W 1 chorobie |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Czasami (5–29%) | W 1 chorobie |
| EPAS1endothelial PAS domain protein 1 | Czasami (5–29%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Czasami (5–29%) | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Czasami (5–29%) | W 1 chorobie |
| EXT1exostosin glycosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FGF10fibroblast growth factor 10 | Czasami (5–29%) | W 1 chorobie |
| FHfumarate hydratase | Czasami (5–29%) | W 1 chorobie |
| FKBP14FKBP prolyl isomerase 14 | Czasami (5–29%) | W 1 chorobie |
| FLNBfilamin B | Czasami (5–29%) | W 2 chorobach |
| FOXJ1forkhead box J1 | Czasami (5–29%) | W 1 chorobie |
| FREM2FRAS1 related extracellular matrix 2 | Czasami (5–29%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Czasami (5–29%) | W 1 chorobie |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| GAS2L2growth arrest specific 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| GRHL3grainyhead like transcription factor 3 | Czasami (5–29%) | W 2 chorobach |
| GRIP1glutamate receptor interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Czasami (5–29%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Czasami (5–29%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Czasami (5–29%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Czasami (5–29%) | W 2 chorobach |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| HYDINHYDIN axonemal central pair apparatus protein | Czasami (5–29%) | W 1 chorobie |
| IRF6interferon regulatory factor 6 | Czasami (5–29%) | W 2 chorobach |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Czasami (5–29%) | W 1 chorobie |
| KIF1Bkinesin family member 1B | Czasami (5–29%) | W 1 chorobie |
| LRRC56leucine rich repeat containing 56 | Czasami (5–29%) | W 1 chorobie |
| LUZP1leucine zipper protein 1 | Czasami (5–29%) | W 1 chorobie |
| MAXMYC associated transcriptional regulator X | Czasami (5–29%) | W 1 chorobie |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Czasami (5–29%) | W 1 chorobie |
| MDH2malate dehydrogenase 2 | Czasami (5–29%) | W 1 chorobie |
| MED16mediator complex subunit 16 | Czasami (5–29%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Czasami (5–29%) | W 1 chorobie |
| MSX1msh homeobox 1 | Czasami (5–29%) | W 2 chorobach |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Czasami (5–29%) | W 1 chorobie |
| MYH3myosin heavy chain 3 | Czasami (5–29%) | W 1 chorobie |
| NAXDNAD(P)HX dehydratase | Czasami (5–29%) | W 1 chorobie |
| NECTIN1nectin cell adhesion molecule 1 | Czasami (5–29%) | W 2 chorobach |
| NEK10NIMA related kinase 10 | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 1 chorobie |
| NME5NME/NM23 family member 5 | Czasami (5–29%) | W 1 chorobie |
| NME8NME/NM23 family member 8 | Czasami (5–29%) | W 1 chorobie |
| NOTCH2NLCnotch 2 N-terminal like C | Czasami (5–29%) | W 1 chorobie |
| ODAD1outer dynein arm docking complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| ODAD2outer dynein arm docking complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| ODAD3outer dynein arm docking complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ODAD4outer dynein arm docking complex subunit 4 | Czasami (5–29%) | W 1 chorobie |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| PDGFRAplatelet derived growth factor receptor alpha | Czasami (5–29%) | W 1 chorobie |
| PDPNpodoplanin | Czasami (5–29%) | W 1 chorobie |
| PGM3phosphoglucomutase 3 | Czasami (5–29%) | W 2 chorobach |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Czasami (5–29%) | W 1 chorobie |
| PORcytochrome p450 oxidoreductase | Czasami (5–29%) | W 2 chorobach |
| PRDM16PR/SET domain 16 | Czasami (5–29%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Czasami (5–29%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Czasami (5–29%) | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Czasami (5–29%) | W 2 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 1 chorobie |
| RETret proto-oncogene | Czasami (5–29%) | W 2 chorobach |
| RIC1RIC1 partner of RAB6A GEF complex | Czasami (5–29%) | W 1 chorobie |
| RPS26ribosomal protein S26 | Czasami (5–29%) | W 1 chorobie |
| RSPH1radial spoke head component 1 | Czasami (5–29%) | W 1 chorobie |
| RSPH3radial spoke head 3 | Czasami (5–29%) | W 1 chorobie |
| RSPH4Aradial spoke head component 4A | Czasami (5–29%) | W 1 chorobie |
| RSPH9radial spoke head component 9 | Czasami (5–29%) | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Czasami (5–29%) | W 1 chorobie |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Czasami (5–29%) | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Czasami (5–29%) | W 2 chorobach |
| SDHCsuccinate dehydrogenase complex subunit C | Czasami (5–29%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Czasami (5–29%) | W 3 chorobach |
| SH2B1SH2B adaptor protein 1 | Czasami (5–29%) | W 1 chorobie |
| SKISKI proto-oncogene | Czasami (5–29%) | W 3 chorobach |
| SLC25A11solute carrier family 25 member 11 | Czasami (5–29%) | W 1 chorobie |
| SLC35C1solute carrier family 35 member C1 | Czasami (5–29%) | W 1 chorobie |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| SNF8SNF8 subunit of ESCRT-II | Czasami (5–29%) | W 1 chorobie |
| SPAG1sperm associated antigen 1 | Czasami (5–29%) | W 1 chorobie |
| SPEF2sperm flagellar and cilia associated 2 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 2 chorobach |
| SRCAPSnf2 related CREBBP activator protein | Czasami (5–29%) | W 2 chorobach |
| STAC3SH3 and cysteine rich domain 3 | Czasami (5–29%) | W 2 chorobach |
| STK36serine/threonine kinase 36 | Czasami (5–29%) | W 1 chorobie |
| TBX22T-box transcription factor 22 | Czasami (5–29%) | W 1 chorobie |
| TMEM127transmembrane protein 127 | Czasami (5–29%) | W 1 chorobie |
| TP63tumor protein p63 | Czasami (5–29%) | W 3 chorobach |
| TRPS1transcriptional repressor GATA binding 1 | Czasami (5–29%) | W 1 chorobie |
| TTC12tetratricopeptide repeat domain 12 | Czasami (5–29%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| UBBubiquitin B | Czasami (5–29%) | W 2 chorobach |
| UBE4Bubiquitination factor E4B | Czasami (5–29%) | W 1 chorobie |
| VHLvon Hippel-Lindau tumor suppressor | Czasami (5–29%) | W 2 chorobach |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZMYND10zinc finger MYND-type containing 10 | Czasami (5–29%) | W 1 chorobie |
| ABCA12ATP binding cassette subfamily A member 12 | Rzadko (1–4%) | W 1 chorobie |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Rzadko (1–4%) | W 1 chorobie |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Rzadko (1–4%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Rzadko (1–4%) | W 1 chorobie |
| ASPRV1aspartic peptidase retroviral like 1 | Rzadko (1–4%) | W 1 chorobie |
| CA2carbonic anhydrase 2 | Rzadko (1–4%) | W 1 chorobie |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Rzadko (1–4%) | W 1 chorobie |
| LIPNlipase family member N | Rzadko (1–4%) | W 1 chorobie |
| NIPAL4NIPA like domain containing 4 | Rzadko (1–4%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Rzadko (1–4%) | W 2 chorobach |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Rzadko (1–4%) | W 1 chorobie |
| SULT2B1sulfotransferase family 2B member 1 | Rzadko (1–4%) | W 1 chorobie |
| TAF11TATA-box binding protein associated factor 11 | Rzadko (1–4%) | W 1 chorobie |
| TGM1transglutaminase 1 | Rzadko (1–4%) | W 1 chorobie |
| ACVR1activin A receptor type 1 | Nie odnotowano | W 1 chorobie |
| ALX3ALX homeobox 3 | Nie odnotowano | W 1 chorobie |
| CDCA7cell division cycle associated 7 | Nie odnotowano | W 1 chorobie |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Nie odnotowano | W 1 chorobie |
| FANCIFA complementation group I | Nie odnotowano | W 1 chorobie |
| GMNNgeminin DNA replication inhibitor | Nie odnotowano | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Nie odnotowano | W 1 chorobie |
| MEOX1mesenchyme homeobox 1 | Nie odnotowano | W 1 chorobie |
| PRRX1paired related homeobox 1 | Nie odnotowano | W 1 chorobie |
| RAB23RAB23, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RPS23ribosomal protein S23 | Nie odnotowano | W 1 chorobie |
| SF3B2splicing factor 3b subunit 2 | Nie odnotowano | W 1 chorobie |
| TMEM67transmembrane protein 67 | Nie odnotowano | W 1 chorobie |
| TSHZ1teashirt zinc finger homeobox 1 | Nie odnotowano | W 1 chorobie |
| TXNL4Athioredoxin like 4A | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
- Mixed hearing impairment42 genów
- Bilateral conductive hearing impairment9 genów
- Progressive conductive hearing impairment3 genów
- Mild conductive hearing impairment2 genów
- Unilateral conductive hearing impairment2 genów
- Congenital conductive hearing impairment1 gen
- Severe conductive hearing impairment1 gen
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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