Træk
Conductive deafness
Klinisk navn: Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Resumé
- Også kaldet
- Conductive hearing loss, Conduction deafness, Hearing loss, conductive
- Kropssystem
- Abnormality of the ear
ReferencegenomGRCh38hg38
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Bestil min Genome Test379 gener knyttet til Conductive deafness
Ændringer i disse gener forårsager sjældne tilstande, hvor Conductive deafness ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALPK3alpha kinase 3 | Altid | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Altid | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Altid | I 2 tilstande |
| EDNRAendothelin receptor type A | Altid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 5 tilstande |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Altid | I 1 tilstand |
| GSCgoosecoid homeobox | Altid | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Altid | I 1 tilstand |
| NOTCH2notch receptor 2 | Altid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Altid | I 4 tilstande |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Altid | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Altid | I 2 tilstande |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Altid | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Meget ofte (80–99 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Meget ofte (80–99 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Meget ofte (80–99 %) | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Meget ofte (80–99 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Meget ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Meget ofte (80–99 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BEST1bestrophin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CA4carbonic anhydrase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Meget ofte (80–99 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Meget ofte (80–99 %) | I 1 tilstand |
| CLRN1clarin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Meget ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRXcone-rod homeobox | Meget ofte (80–99 %) | I 1 tilstand |
Vis 339 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| DHDDSdehydrodolichyl diphosphate synthase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Meget ofte (80–99 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Meget ofte (80–99 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Meget ofte (80–99 %) | I 1 tilstand |
| FGF9fibroblast growth factor 9 | Meget ofte (80–99 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Meget ofte (80–99 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Meget ofte (80–99 %) | I 1 tilstand |
| GDF5growth differentiation factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Meget ofte (80–99 %) | I 2 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Meget ofte (80–99 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Meget ofte (80–99 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Meget ofte (80–99 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Meget ofte (80–99 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Meget ofte (80–99 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Meget ofte (80–99 %) | I 4 tilstande |
| MERTKMER proto-oncogene, tyrosine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NOGnoggin | Meget ofte (80–99 %) | I 4 tilstande |
| NOTCH3notch receptor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Meget ofte (80–99 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Meget ofte (80–99 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Meget ofte (80–99 %) | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Meget ofte (80–99 %) | I 1 tilstand |
| PROM1prominin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPH2peripherin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RBP3retinol binding protein 3 | Meget ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Meget ofte (80–99 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Meget ofte (80–99 %) | I 1 tilstand |
| RHOrhodopsin | Meget ofte (80–99 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Meget ofte (80–99 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Meget ofte (80–99 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Meget ofte (80–99 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Meget ofte (80–99 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Meget ofte (80–99 %) | I 2 tilstande |
| RREB1ras responsive element binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Meget ofte (80–99 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Meget ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Meget ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Meget ofte (80–99 %) | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC7A14solute carrier family 7 member 14 | Meget ofte (80–99 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Meget ofte (80–99 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Meget ofte (80–99 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| TFAP2Atranscription factor AP-2 alpha | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM216transmembrane protein 216 | Meget ofte (80–99 %) | I 2 tilstande |
| TNFRSF11ATNF receptor superfamily member 11a | Meget ofte (80–99 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Meget ofte (80–99 %) | I 2 tilstande |
| TTC8tetratricopeptide repeat domain 8 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Meget ofte (80–99 %) | I 1 tilstand |
| USH2Ausherin | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Meget ofte (80–99 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 1 tilstand |
| ALX1ALX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ofte (30–79 %) | I 2 tilstande |
| BMP2bone morphogenetic protein 2 | Ofte (30–79 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ofte (30–79 %) | I 1 tilstand |
| CDH1cadherin 1 | Ofte (30–79 %) | I 2 tilstande |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| CPLX1complexin 1 | Ofte (30–79 %) | I 2 tilstande |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CTNND1catenin delta 1 | Ofte (30–79 %) | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ofte (30–79 %) | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Ofte (30–79 %) | I 4 tilstande |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FANCFFA complementation group F | Ofte (30–79 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 3 tilstande |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 2 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 4 tilstande |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FLNAfilamin A | Ofte (30–79 %) | I 3 tilstande |
| FOXL1forkhead box L1 | Ofte (30–79 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 3 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 2 tilstande |
| HAX1HCLS1 associated protein X-1 | Ofte (30–79 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ofte (30–79 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Ofte (30–79 %) | I 1 tilstand |
| IL11RAinterleukin 11 receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ofte (30–79 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 2 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ofte (30–79 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Ofte (30–79 %) | I 2 tilstande |
| POU3F4POU class 3 homeobox 4 | Ofte (30–79 %) | I 2 tilstande |
| PRDM5PR/SET domain 5 | Ofte (30–79 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SIX1SIX homeobox 1 | Ofte (30–79 %) | I 4 tilstande |
| SIX5SIX homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ofte (30–79 %) | I 2 tilstande |
| SOSTsclerostin | Ofte (30–79 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Ofte (30–79 %) | I 1 tilstand |
| SP7Sp7 transcription factor | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Ofte (30–79 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Nogle gange (5–29 %) | I 1 tilstand |
| ARHGAP29Rho GTPase activating protein 29 | Nogle gange (5–29 %) | I 1 tilstand |
| ARHGEF38Rho guanine nucleotide exchange factor 38 | Nogle gange (5–29 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BORCS5BLOC-1 related complex subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CCNOcyclin O | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP221cilia and flagella associated protein 221 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP298cilia and flagella associated protein 298 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP300cilia and flagella associated protein 300 | Nogle gange (5–29 %) | I 2 tilstande |
| CFAP74cilia and flagella associated protein 74 | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Nogle gange (5–29 %) | I 2 tilstande |
| CLXNcalaxin | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COBLL1cordon-bleu WH2 repeat protein like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Nogle gange (5–29 %) | I 3 tilstande |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| DAW1dynein assembly factor with WD repeats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLG1discs large MAGUK scaffold protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DLX4distal-less homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF1dynein axonemal assembly factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF11dynein axonemal assembly factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF19dynein axonemal assembly factor 19 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF2dynein axonemal assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF3dynein axonemal assembly factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF4dynein axonemal assembly factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF5dynein axonemal assembly factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAAF6dynein axonemal assembly factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH5dynein axonemal heavy chain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH7dynein axonemal heavy chain 7 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAH9dynein axonemal heavy chain 9 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAI1dynein axonemal intermediate chain 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DNAI2dynein axonemal intermediate chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAL1dynein axonemal light chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DRC1dynein regulatory complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DRC2dynein regulatory complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DRC4dynein regulatory complex subunit 4 | Nogle gange (5–29 %) | I 2 tilstande |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Nogle gange (5–29 %) | I 2 tilstande |
| EIF5Aeukaryotic translation initiation factor 5A | Nogle gange (5–29 %) | I 1 tilstand |
| ELMO2engulfment and cell motility 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Nogle gange (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Nogle gange (5–29 %) | I 2 tilstande |
| FOXJ1forkhead box J1 | Nogle gange (5–29 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GAS2L2growth arrest specific 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRHL3grainyhead like transcription factor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIP1glutamate receptor interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Nogle gange (5–29 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Nogle gange (5–29 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Nogle gange (5–29 %) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Nogle gange (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Nogle gange (5–29 %) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Nogle gange (5–29 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Nogle gange (5–29 %) | I 1 tilstand |
| MSX1msh homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NEK10NIMA related kinase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NME5NME/NM23 family member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| NME8NME/NM23 family member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD2outer dynein arm docking complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD4outer dynein arm docking complex subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRAplatelet derived growth factor receptor alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Nogle gange (5–29 %) | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Nogle gange (5–29 %) | I 2 tilstande |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 2 tilstande |
| PRDM16PR/SET domain 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RETret proto-oncogene | Nogle gange (5–29 %) | I 2 tilstande |
| RIC1RIC1 partner of RAB6A GEF complex | Nogle gange (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Nogle gange (5–29 %) | I 1 tilstand |
| RSPH1radial spoke head component 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RSPH3radial spoke head 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RSPH4Aradial spoke head component 4A | Nogle gange (5–29 %) | I 1 tilstand |
| RSPH9radial spoke head component 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Nogle gange (5–29 %) | I 3 tilstande |
| SH2B1SH2B adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 3 tilstande |
| SLC25A11solute carrier family 25 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Nogle gange (5–29 %) | I 1 tilstand |
| SPAG1sperm associated antigen 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPEF2sperm flagellar and cilia associated 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 2 tilstande |
| SRCAPSnf2 related CREBBP activator protein | Nogle gange (5–29 %) | I 2 tilstande |
| STAC3SH3 and cysteine rich domain 3 | Nogle gange (5–29 %) | I 2 tilstande |
| STK36serine/threonine kinase 36 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX22T-box transcription factor 22 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM127transmembrane protein 127 | Nogle gange (5–29 %) | I 1 tilstand |
| TP63tumor protein p63 | Nogle gange (5–29 %) | I 3 tilstande |
| TRPS1transcriptional repressor GATA binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UBBubiquitin B | Nogle gange (5–29 %) | I 2 tilstande |
| UBE4Bubiquitination factor E4B | Nogle gange (5–29 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Nogle gange (5–29 %) | I 2 tilstande |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYND10zinc finger MYND-type containing 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCA12ATP binding cassette subfamily A member 12 | Sjældent (1–4%) | I 1 tilstand |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Sjældent (1–4%) | I 1 tilstand |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Sjældent (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjældent (1–4%) | I 1 tilstand |
| ASPRV1aspartic peptidase retroviral like 1 | Sjældent (1–4%) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Sjældent (1–4%) | I 1 tilstand |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Sjældent (1–4%) | I 1 tilstand |
| LIPNlipase family member N | Sjældent (1–4%) | I 1 tilstand |
| NIPAL4NIPA like domain containing 4 | Sjældent (1–4%) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Sjældent (1–4%) | I 2 tilstande |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Sjældent (1–4%) | I 1 tilstand |
| SULT2B1sulfotransferase family 2B member 1 | Sjældent (1–4%) | I 1 tilstand |
| TAF11TATA-box binding protein associated factor 11 | Sjældent (1–4%) | I 1 tilstand |
| TGM1transglutaminase 1 | Sjældent (1–4%) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Ikke registreret | I 1 tilstand |
| ALX3ALX homeobox 3 | Ikke registreret | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Ikke registreret | I 1 tilstand |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Ikke registreret | I 1 tilstand |
| FANCIFA complementation group I | Ikke registreret | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ikke registreret | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Ikke registreret | I 1 tilstand |
| MEOX1mesenchyme homeobox 1 | Ikke registreret | I 1 tilstand |
| PRRX1paired related homeobox 1 | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RPS23ribosomal protein S23 | Ikke registreret | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Ikke registreret | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ikke registreret | I 1 tilstand |
| TSHZ1teashirt zinc finger homeobox 1 | Ikke registreret | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
- Mixed hearing impairment42 gener
- Bilateral conductive hearing impairment9 gener
- Progressive conductive hearing impairment3 gener
- Mild conductive hearing impairment2 gener
- Unilateral conductive hearing impairment2 gener
- Congenital conductive hearing impairment1 gen
- Severe conductive hearing impairment1 gen
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
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