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Tunnus
Extreme sensitivity of the eyes to light
Kliiniline nimetus: Photophobia
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Kokkuvõte
- Teised nimetused
- Light hypersensitivity, Photodysphoria
Extreme sensitivity of the eyes to lightHP:0000613
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Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Extreme sensitivity of the eyes to light, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test312 geeni on seotud tunnusega Extreme sensitivity of the eyes to light
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Extreme sensitivity of the eyes to light. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alati | Esineb 1 haiguses |
| AHRaryl hydrocarbon receptor | Alati | Esineb 2 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Alati | Esineb 4 haiguses |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alati | Esineb 1 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Alati | Esineb 1 haiguses |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Alati | Esineb 3 haiguses |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Alati | Esineb 3 haiguses |
| CST6cystatin E/M | Alati | Esineb 1 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Alati | Esineb 6 haiguses |
| GANgigaxonin | Alati | Esineb 1 haiguses |
| GJB2gap junction protein beta 2 | Alati | Esineb 2 haiguses |
| GPR143G protein-coupled receptor 143 | Alati | Esineb 2 haiguses |
| GTF2H4general transcription factor IIH subunit 4 | Alati | Esineb 1 haiguses |
| HARS1histidyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Alati | Esineb 1 haiguses |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Alati | Esineb 1 haiguses |
| IKZF2IKAROS family zinc finger 2 | Alati | Esineb 1 haiguses |
| ITM2Bintegral membrane protein 2B | Alati | Esineb 1 haiguses |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alati | Esineb 1 haiguses |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Alati | Esineb 1 haiguses |
| PCNAproliferating cell nuclear antigen | Alati | Esineb 2 haiguses |
| PDE6Hphosphodiesterase 6H | Alati | Esineb 2 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Alati | Esineb 1 haiguses |
| RGS9regulator of G protein signaling 9 | Alati | Esineb 2 haiguses |
| RGS9BPregulator of G protein signaling 9 binding protein | Alati | Esineb 2 haiguses |
| RIMS2regulating synaptic membrane exocytosis 2 | Alati | Esineb 1 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Alati | Esineb 5 haiguses |
| RPGRIP1RPGR interacting protein 1 | Alati | Esineb 4 haiguses |
| SLC24A5solute carrier family 24 member 5 | Alati | Esineb 2 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Alati | Esineb 2 haiguses |
| ABCA4ATP binding cassette subfamily A member 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADAM9ADAM metallopeptidase domain 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL2BPARF like GTPase 2 binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 272 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ARL6ARF like GTPase 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATF6activating transcription factor 6 | Väga sageli (80–99%) | Esineb 3 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BEST1bestrophin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| C4Acomplement C4A (Chido/Rodgers blood group) | Väga sageli (80–99%) | Esineb 1 haiguses |
| CA4carbonic anhydrase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Väga sageli (80–99%) | Esineb 2 haiguses |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CCR1C-C motif chemokine receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDHR1cadherin related family member 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| CERKLCERK like autophagy regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP20cilia and flagella associated protein 20 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CFAP418cilia and flagella associated protein 418 | Väga sageli (80–99%) | Esineb 4 haiguses |
| CLRN1clarin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| COQ8Bcoenzyme Q8B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRB1crumbs cell polarity complex component 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CRXcone-rod homeobox | Väga sageli (80–99%) | Esineb 4 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHX38DEAH-box helicase 38 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DRAM2DNA damage regulated autophagy modulator 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EYSEGF-like photoreceptor maintenance factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| FAM161AFAM161 centrosomal protein A | Väga sageli (80–99%) | Esineb 1 haiguses |
| FASFas cell surface death receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| FOXC2forkhead box C2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FSCN2fascin actin-bundling protein 2, retinal | Väga sageli (80–99%) | Esineb 1 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Väga sageli (80–99%) | Esineb 2 haiguses |
| GNAT2G protein subunit alpha transducin 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| GUCA1Aguanylate cyclase activator 1A | Väga sageli (80–99%) | Esineb 3 haiguses |
| GUCA1Bguanylate cyclase activator 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Väga sageli (80–99%) | Esineb 4 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HKDC1hexokinase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Väga sageli (80–99%) | Esineb 3 haiguses |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFNGR1interferon gamma receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT172intraflagellar transport 172 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT43intraflagellar transport 43 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT88intraflagellar transport 88 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL10interleukin 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL12Ainterleukin 12A | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL12A-AS1IL12A antisense RNA 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL23Rinterleukin 23 receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPDH1inosine monophosphate dehydrogenase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIAA1549KIAA1549 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIZkizuna centrosomal protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLHL7kelch like family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLRC4killer cell lectin like receptor C4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Väga sageli (80–99%) | Esineb 4 haiguses |
| MAKmale germ cell associated kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| MCOLN1mucolipin TRP cation channel 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MEFVMEFV innate immunity regulator, pyrin | Väga sageli (80–99%) | Esineb 1 haiguses |
| MERTKMER proto-oncogene, tyrosine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEK2NIMA related kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NRLneural retina leucine zipper | Väga sageli (80–99%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| OPN1LWopsin 1, long wave sensitive | Väga sageli (80–99%) | Esineb 3 haiguses |
| OPN1MWopsin 1, medium wave sensitive | Väga sageli (80–99%) | Esineb 3 haiguses |
| PCAREphotoreceptor cilium actin regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Aphosphodiesterase 6A | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Bphosphodiesterase 6B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Cphosphodiesterase 6C | Väga sageli (80–99%) | Esineb 3 haiguses |
| PDE6Gphosphodiesterase 6G | Väga sageli (80–99%) | Esineb 1 haiguses |
| PITPNM3PITPNM family member 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| POC1BPOC1 centriolar protein B | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRCDphotoreceptor disc component | Väga sageli (80–99%) | Esineb 1 haiguses |
| PROM1prominin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRPF3pre-mRNA processing factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF31pre-mRNA processing factor 31 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF6pre-mRNA processing factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF8pre-mRNA processing factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPH2peripherin 2 | Väga sageli (80–99%) | Esineb 8 haiguses |
| RAB28RAB28, member RAS oncogene family | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAX2retina and anterior neural fold homeobox 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RBP3retinol binding protein 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RDH12retinol dehydrogenase 12 | Väga sageli (80–99%) | Esineb 2 haiguses |
| REEP6receptor accessory protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RGRretinal G protein coupled receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RHOrhodopsin | Väga sageli (80–99%) | Esineb 2 haiguses |
| RIMS1regulating synaptic membrane exocytosis 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-1RNA, U6 small nuclear 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-2RNA, U6 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-8RNA, U6 small nuclear 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-9RNA, U6 small nuclear 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROM1retinal outer segment membrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1RP1 axonemal microtubule associated | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1L1RP1 like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP2RP2 activator of ARL3 GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP9RP9 pre-mRNA splicing factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Väga sageli (80–99%) | Esineb 3 haiguses |
| RTN4IP1reticulon 4 interacting protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAGS-antigen visual arrestin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAXO6stabilizer of axonemal microtubules 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Väga sageli (80–99%) | Esineb 2 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Väga sageli (80–99%) | Esineb 3 haiguses |
| SLC1A3solute carrier family 1 member 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC7A14solute carrier family 7 member 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPATA7spermatogenesis associated 7 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SREBF1sterol regulatory element binding transcription factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| STAT4signal transducer and activator of transcription 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TACSTD2tumor associated calcium signal transducer 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TLCD3BTLC domain containing 3B | Väga sageli (80–99%) | Esineb 2 haiguses |
| TLR4toll like receptor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Väga sageli (80–99%) | Esineb 3 haiguses |
| TTLL5tubulin tyrosine ligase like 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBTUB bipartite transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TULP1TUB like protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TYRtyrosinase | Väga sageli (80–99%) | Esineb 4 haiguses |
| UBAC2UBA domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UNC119unc-119 lipid binding chaperone | Väga sageli (80–99%) | Esineb 2 haiguses |
| USH2Ausherin | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNF513zinc finger protein 513 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHSGalpha 2-HS glycoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| AIREautoimmune regulator | Sageli (30–79%) | Esineb 1 haiguses |
| BBIP1BBSome interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Sageli (30–79%) | Esineb 1 haiguses |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| CABP4calcium binding protein 4 | Sageli (30–79%) | Esineb 3 haiguses |
| CEP19centrosomal protein 19 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP250centrosomal protein 250 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 2 haiguses |
| CEP78centrosomal protein 78 | Sageli (30–79%) | Esineb 1 haiguses |
| CLTRNcollectrin, amino acid transport regulator | Sageli (30–79%) | Esineb 1 haiguses |
| COL17A1collagen type XVII alpha 1 chain | Sageli (30–79%) | Esineb 2 haiguses |
| COL4A1collagen type IV alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DCTdopachrome tautomerase | Sageli (30–79%) | Esineb 1 haiguses |
| ELOVL1ELOVL fatty acid elongase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GDF6growth differentiation factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| GJB6gap junction protein beta 6 | Sageli (30–79%) | Esineb 2 haiguses |
| GNB3G protein subunit beta 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GUSBglucuronidase beta | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-Amajor histocompatibility complex, class I, A | Sageli (30–79%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Sageli (30–79%) | Esineb 1 haiguses |
| IQCB1IQ motif containing B1 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGB6integrin subunit beta 6 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Sageli (30–79%) | Esineb 3 haiguses |
| LCA5lebercilin LCA5 | Sageli (30–79%) | Esineb 2 haiguses |
| LSSlanosterol synthase | Sageli (30–79%) | Esineb 1 haiguses |
| LTBP2latent transforming growth factor beta binding protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| LYSTlysosomal trafficking regulator | Sageli (30–79%) | Esineb 2 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAPTmicrotubule associated protein tau | Sageli (30–79%) | Esineb 2 haiguses |
| MC1Rmelanocortin 1 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Sageli (30–79%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MYOCmyocilin | Sageli (30–79%) | Esineb 1 haiguses |
| NLRP1NLR family pyrin domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NOD2nucleotide binding oligomerization domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Sageli (30–79%) | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Sageli (30–79%) | Esineb 1 haiguses |
| PLCD1phospholipase C delta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POLHDNA polymerase eta | Sageli (30–79%) | Esineb 2 haiguses |
| RD3RD3 regulator of GUCY2D | Sageli (30–79%) | Esineb 1 haiguses |
| RDH5retinol dehydrogenase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC39A4solute carrier family 39 member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC45A2solute carrier family 45 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC6A19solute carrier family 6 member 19 | Sageli (30–79%) | Esineb 1 haiguses |
| ST14ST14 transmembrane serine protease matriptase | Sageli (30–79%) | Esineb 1 haiguses |
| TATtyrosine aminotransferase | Sageli (30–79%) | Esineb 1 haiguses |
| TEKTEK receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TGFBItransforming growth factor beta induced | Sageli (30–79%) | Esineb 5 haiguses |
| TP63tumor protein p63 | Sageli (30–79%) | Esineb 2 haiguses |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB4Btubulin beta 4B class IVb | Sageli (30–79%) | Esineb 2 haiguses |
| USP45ubiquitin specific peptidase 45 | Sageli (30–79%) | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Sageli (30–79%) | Esineb 1 haiguses |
| WNT10AWnt family member 10A | Sageli (30–79%) | Esineb 2 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN7ataxin 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| C1QTNF5C1q and TNF related 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFHcomplement factor H | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFIcomplement factor I | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHST6carbohydrate sulfotransferase 6 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CRYGCcrystallin gamma C | Mõnikord (5–29%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDB2damage specific DNA binding protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPCAMepithelial cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 4 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Mõnikord (5–29%) | Esineb 3 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Mõnikord (5–29%) | Esineb 3 haiguses |
| FDXRferredoxin reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXC1forkhead box C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD5frizzled class receptor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HPD4-hydroxyphenylpyruvate dioxygenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| IKZF1IKAROS family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRT14keratin 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRT5keratin 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMP2lysosome associated membrane protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP1LDL receptor related protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MFRPmembrane frizzled-related protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPN1SWopsin 1, short wave sensitive | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX6paired box 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSAPprosaposin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARS1threonyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRIM44TRIM family member 44 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPAXPA, DNA damage recognition and repair factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| COL8A2collagen type VIII alpha 2 chain | Harva (1–4%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Harva (1–4%) | Esineb 1 haiguses |
| GRHL2grainyhead like transcription factor 2 | Harva (1–4%) | Esineb 1 haiguses |
| OVOL2ovo like zinc finger 2 | Harva (1–4%) | Esineb 2 haiguses |
| VSX1visual system homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| ZEB1zinc finger E-box binding homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Pole registreeritud | Esineb 1 haiguses |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Pole registreeritud | Esineb 1 haiguses |
| CLCC1chloride channel CLIC like 1 | Pole registreeritud | Esineb 1 haiguses |
| EDNRAendothelin receptor type A | Pole registreeritud | Esineb 1 haiguses |
| ESR1estrogen receptor 1 | Pole registreeritud | Esineb 1 haiguses |
| HK1hexokinase 1 | Pole registreeritud | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Pole registreeritud | Esineb 1 haiguses |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Pole registreeritud | Esineb 1 haiguses |
| KRT12keratin 12 | Pole registreeritud | Esineb 1 haiguses |
| KRT3keratin 3 | Pole registreeritud | Esineb 1 haiguses |
| LRMDAleucine rich melanocyte differentiation associated | Pole registreeritud | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Pole registreeritud | Esineb 1 haiguses |
| PIKFYVEphosphoinositide kinase, FYVE-type zinc finger containing | Pole registreeritud | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Pole registreeritud | Esineb 1 haiguses |
| TNFtumor necrosis factor | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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