Egenskap
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.
Sammendrag
- Også kalt
- Light hypersensitivity, Photodysphoria
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test312 gener knyttet til Extreme sensitivity of the eyes to light
Endringer i disse genene forårsaker sjeldne tilstander der Extreme sensitivity of the eyes to light forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Alltid | I 2 tilstander |
| ALMS1ALMS1 centrosome and basal body associated protein | Alltid | I 4 tilstander |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alltid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Alltid | I 1 tilstand |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Alltid | I 3 tilstander |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Alltid | I 3 tilstander |
| CST6cystatin E/M | Alltid | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Alltid | I 6 tilstander |
| GANgigaxonin | Alltid | I 1 tilstand |
| GJB2gap junction protein beta 2 | Alltid | I 2 tilstander |
| GPR143G protein-coupled receptor 143 | Alltid | I 2 tilstander |
| GTF2H4general transcription factor IIH subunit 4 | Alltid | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Alltid | I 1 tilstand |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Alltid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Alltid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Alltid | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Alltid | I 2 tilstander |
| PDE6Hphosphodiesterase 6H | Alltid | I 2 tilstander |
| POLA1DNA polymerase alpha 1, catalytic subunit | Alltid | I 1 tilstand |
| RGS9regulator of G protein signaling 9 | Alltid | I 2 tilstander |
| RGS9BPregulator of G protein signaling 9 binding protein | Alltid | I 2 tilstander |
| RIMS2regulating synaptic membrane exocytosis 2 | Alltid | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Alltid | I 5 tilstander |
| RPGRIP1RPGR interacting protein 1 | Alltid | I 4 tilstander |
| SLC24A5solute carrier family 24 member 5 | Alltid | I 2 tilstander |
| UBAP1Lubiquitin associated protein 1 like | Alltid | I 2 tilstander |
| ABCA4ATP binding cassette subfamily A member 4 | Svært ofte (80–99 %) | I 2 tilstander |
| ADAM9ADAM metallopeptidase domain 9 | Svært ofte (80–99 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Svært ofte (80–99 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Svært ofte (80–99 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Svært ofte (80–99 %) | I 2 tilstander |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Svært ofte (80–99 %) | I 2 tilstander |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Svært ofte (80–99 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 272 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ARL6ARF like GTPase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| ATF6activating transcription factor 6 | Svært ofte (80–99 %) | I 3 tilstander |
| BBS1Bardet-Biedl syndrome 1 | Svært ofte (80–99 %) | I 2 tilstander |
| BBS2Bardet-Biedl syndrome 2 | Svært ofte (80–99 %) | I 2 tilstander |
| BEST1bestrophin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| CA4carbonic anhydrase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Svært ofte (80–99 %) | I 2 tilstander |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Svært ofte (80–99 %) | I 2 tilstander |
| CC2D2Acoiled-coil and C2 domain containing 2A | Svært ofte (80–99 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Svært ofte (80–99 %) | I 3 tilstander |
| CERKLCERK like autophagy regulator | Svært ofte (80–99 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Svært ofte (80–99 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Svært ofte (80–99 %) | I 2 tilstander |
| CFAP418cilia and flagella associated protein 418 | Svært ofte (80–99 %) | I 4 tilstander |
| CLRN1clarin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Svært ofte (80–99 %) | I 2 tilstander |
| COQ8Bcoenzyme Q8B | Svært ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CRXcone-rod homeobox | Svært ofte (80–99 %) | I 4 tilstander |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Svært ofte (80–99 %) | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Svært ofte (80–99 %) | I 2 tilstander |
| FAM161AFAM161 centrosomal protein A | Svært ofte (80–99 %) | I 1 tilstand |
| FASFas cell surface death receptor | Svært ofte (80–99 %) | I 2 tilstander |
| FOXC2forkhead box C2 | Svært ofte (80–99 %) | I 2 tilstander |
| FSCN2fascin actin-bundling protein 2, retinal | Svært ofte (80–99 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Svært ofte (80–99 %) | I 2 tilstander |
| GNAT2G protein subunit alpha transducin 2 | Svært ofte (80–99 %) | I 3 tilstander |
| GUCA1Aguanylate cyclase activator 1A | Svært ofte (80–99 %) | I 3 tilstander |
| GUCA1Bguanylate cyclase activator 1B | Svært ofte (80–99 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Svært ofte (80–99 %) | I 4 tilstander |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Svært ofte (80–99 %) | I 3 tilstander |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT172intraflagellar transport 172 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT43intraflagellar transport 43 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Svært ofte (80–99 %) | I 1 tilstand |
| IL10interleukin 10 | Svært ofte (80–99 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Svært ofte (80–99 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Svært ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Svært ofte (80–99 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Svært ofte (80–99 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Svært ofte (80–99 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Svært ofte (80–99 %) | I 4 tilstander |
| MAKmale germ cell associated kinase | Svært ofte (80–99 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Svært ofte (80–99 %) | I 4 tilstander |
| MCOLN1mucolipin TRP cation channel 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MEFVMEFV innate immunity regulator, pyrin | Svært ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Svært ofte (80–99 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| NRLneural retina leucine zipper | Svært ofte (80–99 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Svært ofte (80–99 %) | I 2 tilstander |
| OPN1LWopsin 1, long wave sensitive | Svært ofte (80–99 %) | I 3 tilstander |
| OPN1MWopsin 1, medium wave sensitive | Svært ofte (80–99 %) | I 3 tilstander |
| PCAREphotoreceptor cilium actin regulator | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Cphosphodiesterase 6C | Svært ofte (80–99 %) | I 3 tilstander |
| PDE6Gphosphodiesterase 6G | Svært ofte (80–99 %) | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| POC1BPOC1 centriolar protein B | Svært ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Svært ofte (80–99 %) | I 1 tilstand |
| PROM1prominin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PRPF3pre-mRNA processing factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPH2peripherin 2 | Svært ofte (80–99 %) | I 8 tilstander |
| RAB28RAB28, member RAS oncogene family | Svært ofte (80–99 %) | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Svært ofte (80–99 %) | I 2 tilstander |
| RBP3retinol binding protein 3 | Svært ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Svært ofte (80–99 %) | I 2 tilstander |
| REEP6receptor accessory protein 6 | Svært ofte (80–99 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Svært ofte (80–99 %) | I 1 tilstand |
| RHOrhodopsin | Svært ofte (80–99 %) | I 2 tilstander |
| RIMS1regulating synaptic membrane exocytosis 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RNU4-2RNA, U4 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Svært ofte (80–99 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Svært ofte (80–99 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Svært ofte (80–99 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Svært ofte (80–99 %) | I 3 tilstander |
| RTN4IP1reticulon 4 interacting protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Svært ofte (80–99 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Svært ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Svært ofte (80–99 %) | I 2 tilstander |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Svært ofte (80–99 %) | I 3 tilstander |
| SLC1A3solute carrier family 1 member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC7A14solute carrier family 7 member 14 | Svært ofte (80–99 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Svært ofte (80–99 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Svært ofte (80–99 %) | I 3 tilstander |
| SREBF1sterol regulatory element binding transcription factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| STAT4signal transducer and activator of transcription 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TACSTD2tumor associated calcium signal transducer 2 | Svært ofte (80–99 %) | I 2 tilstander |
| TLCD3BTLC domain containing 3B | Svært ofte (80–99 %) | I 2 tilstander |
| TLR4toll like receptor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Svært ofte (80–99 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Svært ofte (80–99 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Svært ofte (80–99 %) | I 3 tilstander |
| TTLL5tubulin tyrosine ligase like 5 | Svært ofte (80–99 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TYRtyrosinase | Svært ofte (80–99 %) | I 4 tilstander |
| UBAC2UBA domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| UNC119unc-119 lipid binding chaperone | Svært ofte (80–99 %) | I 2 tilstander |
| USH2Ausherin | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Svært ofte (80–99 %) | I 2 tilstander |
| ZNF513zinc finger protein 513 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 2 tilstander |
| LSSlanosterol synthase | Ofte (30–79 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Ofte (30–79 %) | I 2 tilstander |
| LYSTlysosomal trafficking regulator | Ofte (30–79 %) | I 2 tilstander |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| TP63tumor protein p63 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN7ataxin 7 | Noen ganger (5–29 %) | I 1 tilstand |
| C1QTNF5C1q and TNF related 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CFHcomplement factor H | Noen ganger (5–29 %) | I 1 tilstand |
| CFIcomplement factor I | Noen ganger (5–29 %) | I 1 tilstand |
| CHST6carbohydrate sulfotransferase 6 | Noen ganger (5–29 %) | I 2 tilstander |
| CRYGCcrystallin gamma C | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 4 tilstander |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC5ERCC excision repair 5, endonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Noen ganger (5–29 %) | I 3 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 3 tilstander |
| FDXRferredoxin reductase | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD5frizzled class receptor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| HPD4-hydroxyphenylpyruvate dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT14keratin 14 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT5keratin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP1LDL receptor related protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MFRPmembrane frizzled-related protein | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Noen ganger (5–29 %) | I 1 tilstand |
| OPN1SWopsin 1, short wave sensitive | Noen ganger (5–29 %) | I 1 tilstand |
| PAX6paired box 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Noen ganger (5–29 %) | I 2 tilstander |
| TRIM44TRIM family member 44 | Noen ganger (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 2 tilstander |
| COL8A2collagen type VIII alpha 2 chain | Sjelden (1–4%) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Sjelden (1–4%) | I 1 tilstand |
| GRHL2grainyhead like transcription factor 2 | Sjelden (1–4%) | I 1 tilstand |
| OVOL2ovo like zinc finger 2 | Sjelden (1–4%) | I 2 tilstander |
| VSX1visual system homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| ZEB1zinc finger E-box binding homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Ikke registrert | I 1 tilstand |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Ikke registrert | I 1 tilstand |
| CLCC1chloride channel CLIC like 1 | Ikke registrert | I 1 tilstand |
| EDNRAendothelin receptor type A | Ikke registrert | I 1 tilstand |
| ESR1estrogen receptor 1 | Ikke registrert | I 1 tilstand |
| HK1hexokinase 1 | Ikke registrert | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ikke registrert | I 1 tilstand |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Ikke registrert | I 1 tilstand |
| KRT12keratin 12 | Ikke registrert | I 1 tilstand |
| KRT3keratin 3 | Ikke registrert | I 1 tilstand |
| LRMDAleucine rich melanocyte differentiation associated | Ikke registrert | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ikke registrert | I 1 tilstand |
| PIKFYVEphosphoinositide kinase, FYVE-type zinc finger containing | Ikke registrert | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ikke registrert | I 1 tilstand |
| TNFtumor necrosis factor | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker