Træk
Extreme sensitivity of the eyes to light
Klinisk navn: Photophobia
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Resumé
- Også kaldet
- Light hypersensitivity, Photodysphoria
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test312 gener knyttet til Extreme sensitivity of the eyes to light
Ændringer i disse gener forårsager sjældne tilstande, hvor Extreme sensitivity of the eyes to light 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Altid | I 2 tilstande |
| ALMS1ALMS1 centrosome and basal body associated protein | Altid | I 4 tilstande |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altid | I 1 tilstand |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Altid | I 3 tilstande |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Altid | I 3 tilstande |
| CST6cystatin E/M | Altid | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Altid | I 6 tilstande |
| GANgigaxonin | Altid | I 1 tilstand |
| GJB2gap junction protein beta 2 | Altid | I 2 tilstande |
| GPR143G protein-coupled receptor 143 | Altid | I 2 tilstande |
| GTF2H4general transcription factor IIH subunit 4 | Altid | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Altid | I 1 tilstand |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Altid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Altid | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Altid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altid | I 1 tilstand |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Altid | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Altid | I 2 tilstande |
| PDE6Hphosphodiesterase 6H | Altid | I 2 tilstande |
| POLA1DNA polymerase alpha 1, catalytic subunit | Altid | I 1 tilstand |
| RGS9regulator of G protein signaling 9 | Altid | I 2 tilstande |
| RGS9BPregulator of G protein signaling 9 binding protein | Altid | I 2 tilstande |
| RIMS2regulating synaptic membrane exocytosis 2 | Altid | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Altid | I 5 tilstande |
| RPGRIP1RPGR interacting protein 1 | Altid | I 4 tilstande |
| SLC24A5solute carrier family 24 member 5 | Altid | I 2 tilstande |
| UBAP1Lubiquitin associated protein 1 like | Altid | I 2 tilstande |
| ABCA4ATP binding cassette subfamily A member 4 | Meget ofte (80–99 %) | I 2 tilstande |
| ADAM9ADAM metallopeptidase domain 9 | 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 |
| AIPL1AIP like 1 HSP90 co-chaperone | Meget ofte (80–99 %) | I 2 tilstande |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Meget ofte (80–99 %) | I 2 tilstande |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 |
Vis 272 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ARL6ARF like GTPase 6 | Meget ofte (80–99 %) | I 2 tilstande |
| ATF6activating transcription factor 6 | Meget ofte (80–99 %) | I 3 tilstande |
| BBS1Bardet-Biedl syndrome 1 | Meget ofte (80–99 %) | I 2 tilstande |
| BBS2Bardet-Biedl syndrome 2 | Meget ofte (80–99 %) | I 2 tilstande |
| BEST1bestrophin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Meget ofte (80–99 %) | I 1 tilstand |
| CA4carbonic anhydrase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Meget ofte (80–99 %) | I 2 tilstande |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Meget ofte (80–99 %) | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Meget ofte (80–99 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Meget ofte (80–99 %) | I 3 tilstande |
| CERKLCERK like autophagy regulator | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Meget ofte (80–99 %) | I 2 tilstande |
| CFAP418cilia and flagella associated protein 418 | Meget ofte (80–99 %) | I 4 tilstande |
| 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 |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Meget ofte (80–99 %) | I 2 tilstande |
| COQ8Bcoenzyme Q8B | Meget ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CRXcone-rod homeobox | Meget ofte (80–99 %) | I 4 tilstande |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Meget ofte (80–99 %) | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Meget ofte (80–99 %) | I 2 tilstande |
| FAM161AFAM161 centrosomal protein A | Meget ofte (80–99 %) | I 1 tilstand |
| FASFas cell surface death receptor | Meget ofte (80–99 %) | I 2 tilstande |
| FOXC2forkhead box C2 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 2 tilstande |
| GNAT2G protein subunit alpha transducin 2 | Meget ofte (80–99 %) | I 3 tilstande |
| GUCA1Aguanylate cyclase activator 1A | Meget ofte (80–99 %) | I 3 tilstande |
| GUCA1Bguanylate cyclase activator 1B | Meget ofte (80–99 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Meget ofte (80–99 %) | I 4 tilstande |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Meget ofte (80–99 %) | I 3 tilstande |
| 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 |
| IFNGR1interferon gamma receptor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Meget ofte (80–99 %) | I 2 tilstande |
| IFT172intraflagellar transport 172 | Meget ofte (80–99 %) | I 2 tilstande |
| IFT43intraflagellar transport 43 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Meget ofte (80–99 %) | I 1 tilstand |
| IL10interleukin 10 | Meget ofte (80–99 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Meget ofte (80–99 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Meget ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | 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 |
| KLRC4killer cell lectin like receptor C4 | Meget ofte (80–99 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Meget ofte (80–99 %) | I 4 tilstande |
| MAKmale germ cell associated kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Meget ofte (80–99 %) | I 4 tilstande |
| MCOLN1mucolipin TRP cation channel 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MEFVMEFV innate immunity regulator, pyrin | Meget ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Meget ofte (80–99 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| NRLneural retina leucine zipper | Meget ofte (80–99 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Meget ofte (80–99 %) | I 2 tilstande |
| OPN1LWopsin 1, long wave sensitive | Meget ofte (80–99 %) | I 3 tilstande |
| OPN1MWopsin 1, medium wave sensitive | Meget ofte (80–99 %) | I 3 tilstande |
| 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 |
| PDE6Cphosphodiesterase 6C | Meget ofte (80–99 %) | I 3 tilstande |
| PDE6Gphosphodiesterase 6G | Meget ofte (80–99 %) | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| POC1BPOC1 centriolar protein B | Meget ofte (80–99 %) | I 1 tilstand |
| 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 2 tilstande |
| 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 8 tilstande |
| RAB28RAB28, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RBP3retinol binding protein 3 | Meget ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 2 tilstande |
| RIMS1regulating synaptic membrane exocytosis 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 3 tilstande |
| RTN4IP1reticulon 4 interacting 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 2 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Meget ofte (80–99 %) | I 3 tilstande |
| SLC1A3solute carrier family 1 member 3 | 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 3 tilstande |
| SREBF1sterol regulatory element binding transcription factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| STAT4signal transducer and activator of transcription 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TACSTD2tumor associated calcium signal transducer 2 | Meget ofte (80–99 %) | I 2 tilstande |
| TLCD3BTLC domain containing 3B | Meget ofte (80–99 %) | I 2 tilstande |
| TLR4toll like receptor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Meget ofte (80–99 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Meget ofte (80–99 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Meget ofte (80–99 %) | I 3 tilstande |
| TTLL5tubulin tyrosine ligase like 5 | 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 2 tilstande |
| TYRtyrosinase | Meget ofte (80–99 %) | I 4 tilstande |
| UBAC2UBA domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| UNC119unc-119 lipid binding chaperone | Meget ofte (80–99 %) | I 2 tilstande |
| USH2Ausherin | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Meget ofte (80–99 %) | I 2 tilstande |
| ZNF513zinc finger protein 513 | Meget ofte (80–99 %) | I 1 tilstand |
| AHSGalpha 2-HS glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| AIREautoimmune regulator | Ofte (30–79 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Ofte (30–79 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 1 tilstand |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 3 tilstande |
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP250centrosomal protein 250 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 2 tilstande |
| CEP78centrosomal protein 78 | Ofte (30–79 %) | I 1 tilstand |
| CLTRNcollectrin, amino acid transport regulator | Ofte (30–79 %) | I 1 tilstand |
| COL17A1collagen type XVII alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| DCTdopachrome tautomerase | Ofte (30–79 %) | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Ofte (30–79 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ofte (30–79 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Ofte (30–79 %) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Ofte (30–79 %) | I 2 tilstande |
| GNB3G protein subunit beta 3 | Ofte (30–79 %) | I 1 tilstand |
| GUSBglucuronidase beta | Ofte (30–79 %) | I 1 tilstand |
| HLA-Amajor histocompatibility complex, class I, A | Ofte (30–79 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Ofte (30–79 %) | I 1 tilstand |
| ITGB6integrin subunit beta 6 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Ofte (30–79 %) | I 3 tilstande |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 2 tilstande |
| LSSlanosterol synthase | Ofte (30–79 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Ofte (30–79 %) | I 2 tilstande |
| LYSTlysosomal trafficking regulator | Ofte (30–79 %) | I 2 tilstande |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Ofte (30–79 %) | I 2 tilstande |
| MC1Rmelanocortin 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MYOCmyocilin | Ofte (30–79 %) | I 1 tilstand |
| NLRP1NLR family pyrin domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ofte (30–79 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Ofte (30–79 %) | I 1 tilstand |
| PLCD1phospholipase C delta 1 | Ofte (30–79 %) | I 1 tilstand |
| POLHDNA polymerase eta | Ofte (30–79 %) | I 2 tilstande |
| RD3RD3 regulator of GUCY2D | Ofte (30–79 %) | I 1 tilstand |
| RDH5retinol dehydrogenase 5 | Ofte (30–79 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A4solute carrier family 39 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC45A2solute carrier family 45 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A19solute carrier family 6 member 19 | Ofte (30–79 %) | I 1 tilstand |
| ST14ST14 transmembrane serine protease matriptase | Ofte (30–79 %) | I 1 tilstand |
| TATtyrosine aminotransferase | Ofte (30–79 %) | I 1 tilstand |
| TEKTEK receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| TGFBItransforming growth factor beta induced | Ofte (30–79 %) | I 5 tilstande |
| TP63tumor protein p63 | Ofte (30–79 %) | I 2 tilstande |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Ofte (30–79 %) | I 2 tilstande |
| USP45ubiquitin specific peptidase 45 | Ofte (30–79 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| WNT10AWnt family member 10A | Ofte (30–79 %) | I 2 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7ataxin 7 | Nogle gange (5–29 %) | I 1 tilstand |
| C1QTNF5C1q and TNF related 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CFHcomplement factor H | Nogle gange (5–29 %) | I 1 tilstand |
| CFIcomplement factor I | Nogle gange (5–29 %) | I 1 tilstand |
| CHST6carbohydrate sulfotransferase 6 | Nogle gange (5–29 %) | I 2 tilstande |
| CRYGCcrystallin gamma C | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 4 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nogle gange (5–29 %) | I 3 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 3 tilstande |
| FDXRferredoxin reductase | Nogle gange (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD5frizzled class receptor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HPD4-hydroxyphenylpyruvate dioxygenase | Nogle gange (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT14keratin 14 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT5keratin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP1LDL receptor related protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MFRPmembrane frizzled-related protein | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Nogle gange (5–29 %) | I 1 tilstand |
| OPN1SWopsin 1, short wave sensitive | Nogle gange (5–29 %) | I 1 tilstand |
| PAX6paired box 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nogle gange (5–29 %) | I 2 tilstande |
| TRIM44TRIM family member 44 | Nogle gange (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 2 tilstande |
| COL8A2collagen type VIII alpha 2 chain | Sjældent (1–4%) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Sjældent (1–4%) | I 1 tilstand |
| GRHL2grainyhead like transcription factor 2 | Sjældent (1–4%) | I 1 tilstand |
| OVOL2ovo like zinc finger 2 | Sjældent (1–4%) | I 2 tilstande |
| VSX1visual system homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| ZEB1zinc finger E-box binding homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Ikke registreret | I 1 tilstand |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Ikke registreret | I 1 tilstand |
| CLCC1chloride channel CLIC like 1 | Ikke registreret | I 1 tilstand |
| EDNRAendothelin receptor type A | Ikke registreret | I 1 tilstand |
| ESR1estrogen receptor 1 | Ikke registreret | I 1 tilstand |
| HK1hexokinase 1 | Ikke registreret | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ikke registreret | I 1 tilstand |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Ikke registreret | I 1 tilstand |
| KRT12keratin 12 | Ikke registreret | I 1 tilstand |
| KRT3keratin 3 | Ikke registreret | I 1 tilstand |
| LRMDAleucine rich melanocyte differentiation associated | Ikke registreret | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ikke registreret | I 1 tilstand |
| PIKFYVEphosphoinositide kinase, FYVE-type zinc finger containing | Ikke registreret | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ikke registreret | I 1 tilstand |
| TNFtumor necrosis factor | 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.
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.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger