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Piirre
Extreme sensitivity of the eyes to light
Kliininen nimi: Photophobia
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Yhteenveto
- Tunnetaan myös nimellä
- Light hypersensitivity, Photodysphoria
- Elimistön järjestelmä
- Abnormality of the eyeAbnormality of the nervous system
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Kirjaudu sisäänKysyAloitaalkaen 449 $
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/photophobia.json"
page <- fromJSON(url)
page$trait$nameExtreme sensitivity of the eyes to lightHP:0000613
Keitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysyAloitaalkaen 449 $
Lue Extreme sensitivity of the eyes to light-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test312 geeniä, jotka liittyvät piirteeseen Extreme sensitivity of the eyes to light
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Extreme sensitivity of the eyes to light esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Aina | 1 sairaudessa |
| AHRaryl hydrocarbon receptor | Aina | 2 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Aina | 4 sairaudessa |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Aina | 1 sairaudessa |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Aina | 1 sairaudessa |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Aina | 3 sairaudessa |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Aina | 3 sairaudessa |
| CST6cystatin E/M | Aina | 1 sairaudessa |
| CTNScystinosin, lysosomal cystine transporter | Aina | 6 sairaudessa |
| GANgigaxonin | Aina | 1 sairaudessa |
| GJB2gap junction protein beta 2 | Aina | 2 sairaudessa |
| GPR143G protein-coupled receptor 143 | Aina | 2 sairaudessa |
| GTF2H4general transcription factor IIH subunit 4 | Aina | 1 sairaudessa |
| HARS1histidyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Aina | 1 sairaudessa |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Aina | 1 sairaudessa |
| IKZF2IKAROS family zinc finger 2 | Aina | 1 sairaudessa |
| ITM2Bintegral membrane protein 2B | Aina | 1 sairaudessa |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Aina | 1 sairaudessa |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Aina | 1 sairaudessa |
| PCNAproliferating cell nuclear antigen | Aina | 2 sairaudessa |
| PDE6Hphosphodiesterase 6H | Aina | 2 sairaudessa |
| POLA1DNA polymerase alpha 1, catalytic subunit | Aina | 1 sairaudessa |
| RGS9regulator of G protein signaling 9 | Aina | 2 sairaudessa |
| RGS9BPregulator of G protein signaling 9 binding protein | Aina | 2 sairaudessa |
| RIMS2regulating synaptic membrane exocytosis 2 | Aina | 1 sairaudessa |
| RPGRretinitis pigmentosa GTPase regulator | Aina | 5 sairaudessa |
| RPGRIP1RPGR interacting protein 1 | Aina | 4 sairaudessa |
| SLC24A5solute carrier family 24 member 5 | Aina | 2 sairaudessa |
| UBAP1Lubiquitin associated protein 1 like | Aina | 2 sairaudessa |
| ABCA4ATP binding cassette subfamily A member 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| ADAM9ADAM metallopeptidase domain 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| AGBL5AGBL carboxypeptidase 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHI1Abelson helper integration site 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| AIPL1AIP like 1 HSP90 co-chaperone | Hyvin usein (80–99%) | 2 sairaudessa |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Hyvin usein (80–99%) | 2 sairaudessa |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL2BPARF like GTPase 2 binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL3ARF like GTPase 3 | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 272 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ARL6ARF like GTPase 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATF6activating transcription factor 6 | Hyvin usein (80–99%) | 3 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| BEST1bestrophin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| C4Acomplement C4A (Chido/Rodgers blood group) | Hyvin usein (80–99%) | 1 sairaudessa |
| CA4carbonic anhydrase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Hyvin usein (80–99%) | 2 sairaudessa |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Hyvin usein (80–99%) | 1 sairaudessa |
| CCR1C-C motif chemokine receptor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDHR1cadherin related family member 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| CERKLCERK like autophagy regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP20cilia and flagella associated protein 20 | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP410cilia and flagella associated protein 410 | Hyvin usein (80–99%) | 2 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Hyvin usein (80–99%) | 4 sairaudessa |
| CLRN1clarin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| COQ8Bcoenzyme Q8B | Hyvin usein (80–99%) | 1 sairaudessa |
| CRB1crumbs cell polarity complex component 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CRXcone-rod homeobox | Hyvin usein (80–99%) | 4 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| DHX38DEAH-box helicase 38 | Hyvin usein (80–99%) | 1 sairaudessa |
| DRAM2DNA damage regulated autophagy modulator 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| EYSEGF-like photoreceptor maintenance factor | Hyvin usein (80–99%) | 2 sairaudessa |
| FAM161AFAM161 centrosomal protein A | Hyvin usein (80–99%) | 1 sairaudessa |
| FASFas cell surface death receptor | Hyvin usein (80–99%) | 2 sairaudessa |
| FOXC2forkhead box C2 | Hyvin usein (80–99%) | 2 sairaudessa |
| FSCN2fascin actin-bundling protein 2, retinal | Hyvin usein (80–99%) | 1 sairaudessa |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Hyvin usein (80–99%) | 2 sairaudessa |
| GNAT2G protein subunit alpha transducin 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| GUCA1Aguanylate cyclase activator 1A | Hyvin usein (80–99%) | 3 sairaudessa |
| GUCA1Bguanylate cyclase activator 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| GUCY2Dguanylate cyclase 2D, retinal | Hyvin usein (80–99%) | 4 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| HKDC1hexokinase domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Hyvin usein (80–99%) | 3 sairaudessa |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| IFNGR1interferon gamma receptor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Hyvin usein (80–99%) | 2 sairaudessa |
| IFT172intraflagellar transport 172 | Hyvin usein (80–99%) | 2 sairaudessa |
| IFT43intraflagellar transport 43 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT88intraflagellar transport 88 | Hyvin usein (80–99%) | 1 sairaudessa |
| IL10interleukin 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| IL12Ainterleukin 12A | Hyvin usein (80–99%) | 1 sairaudessa |
| IL12A-AS1IL12A antisense RNA 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IL23Rinterleukin 23 receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPDH1inosine monophosphate dehydrogenase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIAA1549KIAA1549 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIZkizuna centrosomal protein | Hyvin usein (80–99%) | 1 sairaudessa |
| KLHL7kelch like family member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| KLRC4killer cell lectin like receptor C4 | Hyvin usein (80–99%) | 1 sairaudessa |
| LRATlecithin retinol acyltransferase | Hyvin usein (80–99%) | 4 sairaudessa |
| MAKmale germ cell associated kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| MEFVMEFV innate immunity regulator, pyrin | Hyvin usein (80–99%) | 1 sairaudessa |
| MERTKMER proto-oncogene, tyrosine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MFSD8major facilitator superfamily domain containing 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NEK2NIMA related kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| NRLneural retina leucine zipper | Hyvin usein (80–99%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Hyvin usein (80–99%) | 2 sairaudessa |
| OPN1LWopsin 1, long wave sensitive | Hyvin usein (80–99%) | 3 sairaudessa |
| OPN1MWopsin 1, medium wave sensitive | Hyvin usein (80–99%) | 3 sairaudessa |
| PCAREphotoreceptor cilium actin regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Aphosphodiesterase 6A | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Bphosphodiesterase 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Cphosphodiesterase 6C | Hyvin usein (80–99%) | 3 sairaudessa |
| PDE6Gphosphodiesterase 6G | Hyvin usein (80–99%) | 1 sairaudessa |
| PITPNM3PITPNM family member 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| POC1BPOC1 centriolar protein B | Hyvin usein (80–99%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 1 sairaudessa |
| PRCDphotoreceptor disc component | Hyvin usein (80–99%) | 1 sairaudessa |
| PROM1prominin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PRPF3pre-mRNA processing factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF31pre-mRNA processing factor 31 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF6pre-mRNA processing factor 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF8pre-mRNA processing factor 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPH2peripherin 2 | Hyvin usein (80–99%) | 8 sairaudessa |
| RAB28RAB28, member RAS oncogene family | Hyvin usein (80–99%) | 1 sairaudessa |
| RAX2retina and anterior neural fold homeobox 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| RBP3retinol binding protein 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| RDH12retinol dehydrogenase 12 | Hyvin usein (80–99%) | 2 sairaudessa |
| REEP6receptor accessory protein 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| RGRretinal G protein coupled receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| RHOrhodopsin | Hyvin usein (80–99%) | 2 sairaudessa |
| RIMS1regulating synaptic membrane exocytosis 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RLBP1retinaldehyde binding protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-1RNA, U6 small nuclear 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-2RNA, U6 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-8RNA, U6 small nuclear 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-9RNA, U6 small nuclear 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| ROM1retinal outer segment membrane protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RP1RP1 axonemal microtubule associated | Hyvin usein (80–99%) | 1 sairaudessa |
| RP1L1RP1 like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RP2RP2 activator of ARL3 GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| RP9RP9 pre-mRNA splicing factor | Hyvin usein (80–99%) | 1 sairaudessa |
| RPE65retinoid isomerohydrolase RPE65 | Hyvin usein (80–99%) | 3 sairaudessa |
| RTN4IP1reticulon 4 interacting protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SAGS-antigen visual arrestin | Hyvin usein (80–99%) | 1 sairaudessa |
| SAXO6stabilizer of axonemal microtubules 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Hyvin usein (80–99%) | 2 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SEMA4Asemaphorin 4A | Hyvin usein (80–99%) | 3 sairaudessa |
| SLC1A3solute carrier family 1 member 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC7A14solute carrier family 7 member 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPATA7spermatogenesis associated 7 | Hyvin usein (80–99%) | 3 sairaudessa |
| SREBF1sterol regulatory element binding transcription factor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| STAT4signal transducer and activator of transcription 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| TACSTD2tumor associated calcium signal transducer 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| TLCD3BTLC domain containing 3B | Hyvin usein (80–99%) | 2 sairaudessa |
| TLR4toll like receptor 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Hyvin usein (80–99%) | 1 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Hyvin usein (80–99%) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Hyvin usein (80–99%) | 3 sairaudessa |
| TTLL5tubulin tyrosine ligase like 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| TUBTUB bipartite transcription factor | Hyvin usein (80–99%) | 1 sairaudessa |
| TULP1TUB like protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| TYRtyrosinase | Hyvin usein (80–99%) | 4 sairaudessa |
| UBAC2UBA domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| UNC119unc-119 lipid binding chaperone | Hyvin usein (80–99%) | 2 sairaudessa |
| USH2Ausherin | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF408zinc finger protein 408 | Hyvin usein (80–99%) | 2 sairaudessa |
| ZNF513zinc finger protein 513 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHSGalpha 2-HS glycoprotein | Usein (30–79%) | 1 sairaudessa |
| AIREautoimmune regulator | Usein (30–79%) | 1 sairaudessa |
| BBIP1BBSome interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| BBS10Bardet-Biedl syndrome 10 | Usein (30–79%) | 1 sairaudessa |
| BBS12Bardet-Biedl syndrome 12 | Usein (30–79%) | 1 sairaudessa |
| BBS4Bardet-Biedl syndrome 4 | Usein (30–79%) | 1 sairaudessa |
| BBS5Bardet-Biedl syndrome 5 | Usein (30–79%) | 1 sairaudessa |
| BBS7Bardet-Biedl syndrome 7 | Usein (30–79%) | 1 sairaudessa |
| BBS9Bardet-Biedl syndrome 9 | Usein (30–79%) | 1 sairaudessa |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Usein (30–79%) | 1 sairaudessa |
| CABP4calcium binding protein 4 | Usein (30–79%) | 3 sairaudessa |
| CEP19centrosomal protein 19 | Usein (30–79%) | 1 sairaudessa |
| CEP250centrosomal protein 250 | Usein (30–79%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Usein (30–79%) | 2 sairaudessa |
| CEP78centrosomal protein 78 | Usein (30–79%) | 1 sairaudessa |
| CLTRNcollectrin, amino acid transport regulator | Usein (30–79%) | 1 sairaudessa |
| COL17A1collagen type XVII alpha 1 chain | Usein (30–79%) | 2 sairaudessa |
| COL4A1collagen type IV alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Usein (30–79%) | 1 sairaudessa |
| DCTdopachrome tautomerase | Usein (30–79%) | 1 sairaudessa |
| ELOVL1ELOVL fatty acid elongase 1 | Usein (30–79%) | 1 sairaudessa |
| ELOVL4ELOVL fatty acid elongase 4 | Usein (30–79%) | 1 sairaudessa |
| GDF6growth differentiation factor 6 | Usein (30–79%) | 1 sairaudessa |
| GJB6gap junction protein beta 6 | Usein (30–79%) | 2 sairaudessa |
| GNB3G protein subunit beta 3 | Usein (30–79%) | 1 sairaudessa |
| GUSBglucuronidase beta | Usein (30–79%) | 1 sairaudessa |
| HLA-Amajor histocompatibility complex, class I, A | Usein (30–79%) | 1 sairaudessa |
| IFT27intraflagellar transport 27 | Usein (30–79%) | 1 sairaudessa |
| IFT74intraflagellar transport 74 | Usein (30–79%) | 1 sairaudessa |
| IQCB1IQ motif containing B1 | Usein (30–79%) | 1 sairaudessa |
| ITGB6integrin subunit beta 6 | Usein (30–79%) | 1 sairaudessa |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Usein (30–79%) | 3 sairaudessa |
| LCA5lebercilin LCA5 | Usein (30–79%) | 2 sairaudessa |
| LSSlanosterol synthase | Usein (30–79%) | 1 sairaudessa |
| LTBP2latent transforming growth factor beta binding protein 2 | Usein (30–79%) | 2 sairaudessa |
| LYSTlysosomal trafficking regulator | Usein (30–79%) | 2 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Usein (30–79%) | 1 sairaudessa |
| MAPTmicrotubule associated protein tau | Usein (30–79%) | 2 sairaudessa |
| MC1Rmelanocortin 1 receptor | Usein (30–79%) | 1 sairaudessa |
| MKKSMKKS centrosomal shuttling protein | Usein (30–79%) | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| MYOCmyocilin | Usein (30–79%) | 1 sairaudessa |
| NLRP1NLR family pyrin domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| NOD2nucleotide binding oligomerization domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| NPHP1nephrocystin 1 | Usein (30–79%) | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Usein (30–79%) | 1 sairaudessa |
| OTX2orthodenticle homeobox 2 | Usein (30–79%) | 2 sairaudessa |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Usein (30–79%) | 1 sairaudessa |
| PLCD1phospholipase C delta 1 | Usein (30–79%) | 1 sairaudessa |
| POLHDNA polymerase eta | Usein (30–79%) | 2 sairaudessa |
| RD3RD3 regulator of GUCY2D | Usein (30–79%) | 1 sairaudessa |
| RDH5retinol dehydrogenase 5 | Usein (30–79%) | 1 sairaudessa |
| SCLT1sodium channel and clathrin linker 1 | Usein (30–79%) | 1 sairaudessa |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Usein (30–79%) | 1 sairaudessa |
| SLC39A4solute carrier family 39 member 4 | Usein (30–79%) | 1 sairaudessa |
| SLC45A2solute carrier family 45 member 2 | Usein (30–79%) | 1 sairaudessa |
| SLC6A19solute carrier family 6 member 19 | Usein (30–79%) | 1 sairaudessa |
| ST14ST14 transmembrane serine protease matriptase | Usein (30–79%) | 1 sairaudessa |
| TATtyrosine aminotransferase | Usein (30–79%) | 1 sairaudessa |
| TEKTEK receptor tyrosine kinase | Usein (30–79%) | 1 sairaudessa |
| TGFBItransforming growth factor beta induced | Usein (30–79%) | 5 sairaudessa |
| TP63tumor protein p63 | Usein (30–79%) | 2 sairaudessa |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Usein (30–79%) | 1 sairaudessa |
| TRIM32tripartite motif containing 32 | Usein (30–79%) | 1 sairaudessa |
| TUBB4Btubulin beta 4B class IVb | Usein (30–79%) | 2 sairaudessa |
| USP45ubiquitin specific peptidase 45 | Usein (30–79%) | 1 sairaudessa |
| WDPCPWD repeat containing planar cell polarity effector | Usein (30–79%) | 1 sairaudessa |
| WNT10AWnt family member 10A | Usein (30–79%) | 2 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| ATXN7ataxin 7 | Joskus (5–29%) | 1 sairaudessa |
| C1QTNF5C1q and TNF related 5 | Joskus (5–29%) | 1 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| CFHcomplement factor H | Joskus (5–29%) | 1 sairaudessa |
| CFIcomplement factor I | Joskus (5–29%) | 1 sairaudessa |
| CHST6carbohydrate sulfotransferase 6 | Joskus (5–29%) | 2 sairaudessa |
| CRYGCcrystallin gamma C | Joskus (5–29%) | 1 sairaudessa |
| DBR1debranching RNA lariats 1 | Joskus (5–29%) | 1 sairaudessa |
| DDB2damage specific DNA binding protein 2 | Joskus (5–29%) | 2 sairaudessa |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Joskus (5–29%) | 1 sairaudessa |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Joskus (5–29%) | 1 sairaudessa |
| EPCAMepithelial cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Joskus (5–29%) | 4 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Joskus (5–29%) | 2 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Joskus (5–29%) | 2 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Joskus (5–29%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Joskus (5–29%) | 3 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Joskus (5–29%) | 3 sairaudessa |
| FDXRferredoxin reductase | Joskus (5–29%) | 1 sairaudessa |
| FOXC1forkhead box C1 | Joskus (5–29%) | 1 sairaudessa |
| FZD5frizzled class receptor 5 | Joskus (5–29%) | 1 sairaudessa |
| GALCgalactosylceramidase | Joskus (5–29%) | 1 sairaudessa |
| GTF2E2general transcription factor IIE subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GTF2H5general transcription factor IIH subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Joskus (5–29%) | 2 sairaudessa |
| HPD4-hydroxyphenylpyruvate dioxygenase | Joskus (5–29%) | 1 sairaudessa |
| IKZF1IKAROS family zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| KRT14keratin 14 | Joskus (5–29%) | 1 sairaudessa |
| KRT5keratin 5 | Joskus (5–29%) | 1 sairaudessa |
| LAMP2lysosome associated membrane protein 2 | Joskus (5–29%) | 1 sairaudessa |
| LRP1LDL receptor related protein 1 | Joskus (5–29%) | 1 sairaudessa |
| MFRPmembrane frizzled-related protein | Joskus (5–29%) | 1 sairaudessa |
| MPLKIPM-phase specific PLK1 interacting protein | Joskus (5–29%) | 1 sairaudessa |
| NOTCH2NLCnotch 2 N-terminal like C | Joskus (5–29%) | 1 sairaudessa |
| OPN1SWopsin 1, short wave sensitive | Joskus (5–29%) | 1 sairaudessa |
| PAX6paired box 6 | Joskus (5–29%) | 1 sairaudessa |
| PSAPprosaposin | Joskus (5–29%) | 1 sairaudessa |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Joskus (5–29%) | 1 sairaudessa |
| RNF113Aring finger protein 113A | Joskus (5–29%) | 1 sairaudessa |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| TARS1threonyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Joskus (5–29%) | 2 sairaudessa |
| TRIM44TRIM family member 44 | Joskus (5–29%) | 1 sairaudessa |
| XPAXPA, DNA damage recognition and repair factor | Joskus (5–29%) | 1 sairaudessa |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Joskus (5–29%) | 2 sairaudessa |
| COL8A2collagen type VIII alpha 2 chain | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| GRHL2grainyhead like transcription factor 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| OVOL2ovo like zinc finger 2 | Harvinainen (1–4 %) | 2 sairaudessa |
| VSX1visual system homeobox 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ZEB1zinc finger E-box binding homeobox 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Ei kirjattu | 1 sairaudessa |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Ei kirjattu | 1 sairaudessa |
| CLCC1chloride channel CLIC like 1 | Ei kirjattu | 1 sairaudessa |
| EDNRAendothelin receptor type A | Ei kirjattu | 1 sairaudessa |
| ESR1estrogen receptor 1 | Ei kirjattu | 1 sairaudessa |
| HK1hexokinase 1 | Ei kirjattu | 1 sairaudessa |
| INPP5Einositol polyphosphate-5-phosphatase E | Ei kirjattu | 1 sairaudessa |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Ei kirjattu | 1 sairaudessa |
| KRT12keratin 12 | Ei kirjattu | 1 sairaudessa |
| KRT3keratin 3 | Ei kirjattu | 1 sairaudessa |
| LRMDAleucine rich melanocyte differentiation associated | Ei kirjattu | 1 sairaudessa |
| NLRP3NLR family pyrin domain containing 3 | Ei kirjattu | 1 sairaudessa |
| PIKFYVEphosphoinositide kinase, FYVE-type zinc finger containing | Ei kirjattu | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Ei kirjattu | 1 sairaudessa |
| TNFtumor necrosis factor | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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