Požymis
Extreme sensitivity of the eyes to light
Klinikinis pavadinimas: Photophobia
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Santrauka
- Taip pat vadinama
- Light hypersensitivity, Photodysphoria
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Extreme sensitivity of the eyes to light, and the rest of your genome, with one test.
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Įsigyti savo Genome Test312 genų susiję su Extreme sensitivity of the eyes to light
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Extreme sensitivity of the eyes to light. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 1 ligoje |
| AHRaryl hydrocarbon receptor | Visada | 2 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Visada | 4 ligose |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Visada | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Visada | 1 ligoje |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Visada | 3 ligose |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Visada | 3 ligose |
| CST6cystatin E/M | Visada | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Visada | 6 ligose |
| GANgigaxonin | Visada | 1 ligoje |
| GJB2gap junction protein beta 2 | Visada | 2 ligose |
| GPR143G protein-coupled receptor 143 | Visada | 2 ligose |
| GTF2H4general transcription factor IIH subunit 4 | Visada | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Visada | 1 ligoje |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Visada | 1 ligoje |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Visada | 1 ligoje |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| ITM2Bintegral membrane protein 2B | Visada | 1 ligoje |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Visada | 1 ligoje |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Visada | 1 ligoje |
| PCNAproliferating cell nuclear antigen | Visada | 2 ligose |
| PDE6Hphosphodiesterase 6H | Visada | 2 ligose |
| POLA1DNA polymerase alpha 1, catalytic subunit | Visada | 1 ligoje |
| RGS9regulator of G protein signaling 9 | Visada | 2 ligose |
| RGS9BPregulator of G protein signaling 9 binding protein | Visada | 2 ligose |
| RIMS2regulating synaptic membrane exocytosis 2 | Visada | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Visada | 5 ligose |
| RPGRIP1RPGR interacting protein 1 | Visada | 4 ligose |
| SLC24A5solute carrier family 24 member 5 | Visada | 2 ligose |
| UBAP1Lubiquitin associated protein 1 like | Visada | 2 ligose |
| ABCA4ATP binding cassette subfamily A member 4 | Labai dažnai (80–99%) | 2 ligose |
| ADAM9ADAM metallopeptidase domain 9 | Labai dažnai (80–99%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Labai dažnai (80–99%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Labai dažnai (80–99%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Labai dažnai (80–99%) | 2 ligose |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Labai dažnai (80–99%) | 2 ligose |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Labai dažnai (80–99%) | 2 ligose |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Labai dažnai (80–99%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Labai dažnai (80–99%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 272 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ARL6ARF like GTPase 6 | Labai dažnai (80–99%) | 2 ligose |
| ATF6activating transcription factor 6 | Labai dažnai (80–99%) | 3 ligose |
| BBS1Bardet-Biedl syndrome 1 | Labai dažnai (80–99%) | 2 ligose |
| BBS2Bardet-Biedl syndrome 2 | Labai dažnai (80–99%) | 2 ligose |
| BEST1bestrophin 1 | Labai dažnai (80–99%) | 1 ligoje |
| C4Acomplement C4A (Chido/Rodgers blood group) | Labai dažnai (80–99%) | 1 ligoje |
| CA4carbonic anhydrase 4 | Labai dažnai (80–99%) | 1 ligoje |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Labai dažnai (80–99%) | 2 ligose |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Labai dažnai (80–99%) | 2 ligose |
| CC2D2Acoiled-coil and C2 domain containing 2A | Labai dažnai (80–99%) | 1 ligoje |
| CCR1C-C motif chemokine receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Labai dažnai (80–99%) | 3 ligose |
| CERKLCERK like autophagy regulator | Labai dažnai (80–99%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Labai dažnai (80–99%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Labai dažnai (80–99%) | 2 ligose |
| CFAP418cilia and flagella associated protein 418 | Labai dažnai (80–99%) | 4 ligose |
| CLRN1clarin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Labai dažnai (80–99%) | 2 ligose |
| COQ8Bcoenzyme Q8B | Labai dažnai (80–99%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Labai dažnai (80–99%) | 2 ligose |
| CRXcone-rod homeobox | Labai dažnai (80–99%) | 4 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Labai dažnai (80–99%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Labai dažnai (80–99%) | 1 ligoje |
| DRAM2DNA damage regulated autophagy modulator 2 | Labai dažnai (80–99%) | 2 ligose |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Labai dažnai (80–99%) | 2 ligose |
| FAM161AFAM161 centrosomal protein A | Labai dažnai (80–99%) | 1 ligoje |
| FASFas cell surface death receptor | Labai dažnai (80–99%) | 2 ligose |
| FOXC2forkhead box C2 | Labai dažnai (80–99%) | 2 ligose |
| FSCN2fascin actin-bundling protein 2, retinal | Labai dažnai (80–99%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Labai dažnai (80–99%) | 2 ligose |
| GNAT2G protein subunit alpha transducin 2 | Labai dažnai (80–99%) | 3 ligose |
| GUCA1Aguanylate cyclase activator 1A | Labai dažnai (80–99%) | 3 ligose |
| GUCA1Bguanylate cyclase activator 1B | Labai dažnai (80–99%) | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | Labai dažnai (80–99%) | 4 ligose |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| HKDC1hexokinase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Labai dažnai (80–99%) | 3 ligose |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| IFNGR1interferon gamma receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Labai dažnai (80–99%) | 2 ligose |
| IFT172intraflagellar transport 172 | Labai dažnai (80–99%) | 2 ligose |
| IFT43intraflagellar transport 43 | Labai dažnai (80–99%) | 1 ligoje |
| IFT88intraflagellar transport 88 | Labai dažnai (80–99%) | 1 ligoje |
| IL10interleukin 10 | Labai dažnai (80–99%) | 1 ligoje |
| IL12Ainterleukin 12A | Labai dažnai (80–99%) | 1 ligoje |
| IL12A-AS1IL12A antisense RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| IL23Rinterleukin 23 receptor | Labai dažnai (80–99%) | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Labai dažnai (80–99%) | 2 ligose |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Labai dažnai (80–99%) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| KIAA1549KIAA1549 | Labai dažnai (80–99%) | 1 ligoje |
| KIZkizuna centrosomal protein | Labai dažnai (80–99%) | 1 ligoje |
| KLHL7kelch like family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| KLRC4killer cell lectin like receptor C4 | Labai dažnai (80–99%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Labai dažnai (80–99%) | 4 ligose |
| MAKmale germ cell associated kinase | Labai dažnai (80–99%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Labai dažnai (80–99%) | 4 ligose |
| MCOLN1mucolipin TRP cation channel 1 | Labai dažnai (80–99%) | 2 ligose |
| MEFVMEFV innate immunity regulator, pyrin | Labai dažnai (80–99%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Labai dažnai (80–99%) | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Labai dažnai (80–99%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Labai dažnai (80–99%) | 3 ligose |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Labai dažnai (80–99%) | 2 ligose |
| NRLneural retina leucine zipper | Labai dažnai (80–99%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Labai dažnai (80–99%) | 2 ligose |
| OPN1LWopsin 1, long wave sensitive | Labai dažnai (80–99%) | 3 ligose |
| OPN1MWopsin 1, medium wave sensitive | Labai dažnai (80–99%) | 3 ligose |
| PCAREphotoreceptor cilium actin regulator | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Cphosphodiesterase 6C | Labai dažnai (80–99%) | 3 ligose |
| PDE6Gphosphodiesterase 6G | Labai dažnai (80–99%) | 1 ligoje |
| PITPNM3PITPNM family member 3 | Labai dažnai (80–99%) | 2 ligose |
| POC1BPOC1 centriolar protein B | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 1 ligoje |
| PRCDphotoreceptor disc component | Labai dažnai (80–99%) | 1 ligoje |
| PROM1prominin 1 | Labai dažnai (80–99%) | 2 ligose |
| PRPF3pre-mRNA processing factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF6pre-mRNA processing factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| PRPH2peripherin 2 | Labai dažnai (80–99%) | 8 ligose |
| RAB28RAB28, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RAX2retina and anterior neural fold homeobox 2 | Labai dažnai (80–99%) | 2 ligose |
| RBP3retinol binding protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Labai dažnai (80–99%) | 2 ligose |
| REEP6receptor accessory protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Labai dažnai (80–99%) | 1 ligoje |
| RHOrhodopsin | Labai dažnai (80–99%) | 2 ligose |
| RIMS1regulating synaptic membrane exocytosis 1 | Labai dažnai (80–99%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| RNU4-2RNA, U4 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Labai dažnai (80–99%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Labai dažnai (80–99%) | 1 ligoje |
| RP1L1RP1 like 1 | Labai dažnai (80–99%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Labai dažnai (80–99%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Labai dažnai (80–99%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Labai dažnai (80–99%) | 3 ligose |
| RTN4IP1reticulon 4 interacting protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| SAGS-antigen visual arrestin | Labai dažnai (80–99%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Labai dažnai (80–99%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Labai dažnai (80–99%) | 2 ligose |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Labai dažnai (80–99%) | 3 ligose |
| SLC1A3solute carrier family 1 member 3 | Labai dažnai (80–99%) | 2 ligose |
| SLC7A14solute carrier family 7 member 14 | Labai dažnai (80–99%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Labai dažnai (80–99%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Labai dažnai (80–99%) | 3 ligose |
| SREBF1sterol regulatory element binding transcription factor 1 | Labai dažnai (80–99%) | 2 ligose |
| STAT4signal transducer and activator of transcription 4 | Labai dažnai (80–99%) | 1 ligoje |
| TACSTD2tumor associated calcium signal transducer 2 | Labai dažnai (80–99%) | 2 ligose |
| TLCD3BTLC domain containing 3B | Labai dažnai (80–99%) | 2 ligose |
| TLR4toll like receptor 4 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Labai dažnai (80–99%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Labai dažnai (80–99%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Labai dažnai (80–99%) | 3 ligose |
| TTLL5tubulin tyrosine ligase like 5 | Labai dažnai (80–99%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| TULP1TUB like protein 1 | Labai dažnai (80–99%) | 2 ligose |
| TYRtyrosinase | Labai dažnai (80–99%) | 4 ligose |
| UBAC2UBA domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| UNC119unc-119 lipid binding chaperone | Labai dažnai (80–99%) | 2 ligose |
| USH2Ausherin | Labai dažnai (80–99%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Labai dažnai (80–99%) | 2 ligose |
| ZNF513zinc finger protein 513 | Labai dažnai (80–99%) | 1 ligoje |
| AHSGalpha 2-HS glycoprotein | Dažnai (30–79%) | 1 ligoje |
| AIREautoimmune regulator | Dažnai (30–79%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Dažnai (30–79%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Dažnai (30–79%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Dažnai (30–79%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Dažnai (30–79%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Dažnai (30–79%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Dažnai (30–79%) | 1 ligoje |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Dažnai (30–79%) | 1 ligoje |
| CABP4calcium binding protein 4 | Dažnai (30–79%) | 3 ligose |
| CEP19centrosomal protein 19 | Dažnai (30–79%) | 1 ligoje |
| CEP250centrosomal protein 250 | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 2 ligose |
| CEP78centrosomal protein 78 | Dažnai (30–79%) | 1 ligoje |
| CLTRNcollectrin, amino acid transport regulator | Dažnai (30–79%) | 1 ligoje |
| COL17A1collagen type XVII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL4A1collagen type IV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Dažnai (30–79%) | 1 ligoje |
| DCTdopachrome tautomerase | Dažnai (30–79%) | 1 ligoje |
| ELOVL1ELOVL fatty acid elongase 1 | Dažnai (30–79%) | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Dažnai (30–79%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Dažnai (30–79%) | 1 ligoje |
| GJB6gap junction protein beta 6 | Dažnai (30–79%) | 2 ligose |
| GNB3G protein subunit beta 3 | Dažnai (30–79%) | 1 ligoje |
| GUSBglucuronidase beta | Dažnai (30–79%) | 1 ligoje |
| HLA-Amajor histocompatibility complex, class I, A | Dažnai (30–79%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Dažnai (30–79%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Dažnai (30–79%) | 1 ligoje |
| IQCB1IQ motif containing B1 | Dažnai (30–79%) | 1 ligoje |
| ITGB6integrin subunit beta 6 | Dažnai (30–79%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Dažnai (30–79%) | 3 ligose |
| LCA5lebercilin LCA5 | Dažnai (30–79%) | 2 ligose |
| LSSlanosterol synthase | Dažnai (30–79%) | 1 ligoje |
| LTBP2latent transforming growth factor beta binding protein 2 | Dažnai (30–79%) | 2 ligose |
| LYSTlysosomal trafficking regulator | Dažnai (30–79%) | 2 ligose |
| LZTFL1leucine zipper transcription factor like 1 | Dažnai (30–79%) | 1 ligoje |
| MAPTmicrotubule associated protein tau | Dažnai (30–79%) | 2 ligose |
| MC1Rmelanocortin 1 receptor | Dažnai (30–79%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MYOCmyocilin | Dažnai (30–79%) | 1 ligoje |
| NLRP1NLR family pyrin domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| NOD2nucleotide binding oligomerization domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Dažnai (30–79%) | 2 ligose |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Dažnai (30–79%) | 1 ligoje |
| PLCD1phospholipase C delta 1 | Dažnai (30–79%) | 1 ligoje |
| POLHDNA polymerase eta | Dažnai (30–79%) | 2 ligose |
| RD3RD3 regulator of GUCY2D | Dažnai (30–79%) | 1 ligoje |
| RDH5retinol dehydrogenase 5 | Dažnai (30–79%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Dažnai (30–79%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Dažnai (30–79%) | 1 ligoje |
| SLC39A4solute carrier family 39 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC45A2solute carrier family 45 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC6A19solute carrier family 6 member 19 | Dažnai (30–79%) | 1 ligoje |
| ST14ST14 transmembrane serine protease matriptase | Dažnai (30–79%) | 1 ligoje |
| TATtyrosine aminotransferase | Dažnai (30–79%) | 1 ligoje |
| TEKTEK receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| TGFBItransforming growth factor beta induced | Dažnai (30–79%) | 5 ligose |
| TP63tumor protein p63 | Dažnai (30–79%) | 2 ligose |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Dažnai (30–79%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Dažnai (30–79%) | 1 ligoje |
| TUBB4Btubulin beta 4B class IVb | Dažnai (30–79%) | 2 ligose |
| USP45ubiquitin specific peptidase 45 | Dažnai (30–79%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Dažnai (30–79%) | 1 ligoje |
| WNT10AWnt family member 10A | Dažnai (30–79%) | 2 ligose |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ATXN7ataxin 7 | Kartais (5–29%) | 1 ligoje |
| C1QTNF5C1q and TNF related 5 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CFHcomplement factor H | Kartais (5–29%) | 1 ligoje |
| CFIcomplement factor I | Kartais (5–29%) | 1 ligoje |
| CHST6carbohydrate sulfotransferase 6 | Kartais (5–29%) | 2 ligose |
| CRYGCcrystallin gamma C | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DDB2damage specific DNA binding protein 2 | Kartais (5–29%) | 2 ligose |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Kartais (5–29%) | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Kartais (5–29%) | 1 ligoje |
| EPCAMepithelial cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 4 ligose |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 2 ligose |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 2 ligose |
| ERCC5ERCC excision repair 5, endonuclease | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kartais (5–29%) | 3 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 3 ligose |
| FDXRferredoxin reductase | Kartais (5–29%) | 1 ligoje |
| FOXC1forkhead box C1 | Kartais (5–29%) | 1 ligoje |
| FZD5frizzled class receptor 5 | Kartais (5–29%) | 1 ligoje |
| GALCgalactosylceramidase | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 2 ligose |
| HPD4-hydroxyphenylpyruvate dioxygenase | Kartais (5–29%) | 1 ligoje |
| IKZF1IKAROS family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| KRT14keratin 14 | Kartais (5–29%) | 1 ligoje |
| KRT5keratin 5 | Kartais (5–29%) | 1 ligoje |
| LAMP2lysosome associated membrane protein 2 | Kartais (5–29%) | 1 ligoje |
| LRP1LDL receptor related protein 1 | Kartais (5–29%) | 1 ligoje |
| MFRPmembrane frizzled-related protein | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NOTCH2NLCnotch 2 N-terminal like C | Kartais (5–29%) | 1 ligoje |
| OPN1SWopsin 1, short wave sensitive | Kartais (5–29%) | 1 ligoje |
| PAX6paired box 6 | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Kartais (5–29%) | 2 ligose |
| TRIM44TRIM family member 44 | Kartais (5–29%) | 1 ligoje |
| XPAXPA, DNA damage recognition and repair factor | Kartais (5–29%) | 1 ligoje |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Kartais (5–29%) | 2 ligose |
| COL8A2collagen type VIII alpha 2 chain | Retai (1–4 %) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Retai (1–4 %) | 1 ligoje |
| GRHL2grainyhead like transcription factor 2 | Retai (1–4 %) | 1 ligoje |
| OVOL2ovo like zinc finger 2 | Retai (1–4 %) | 2 ligose |
| VSX1visual system homeobox 1 | Retai (1–4 %) | 1 ligoje |
| ZEB1zinc finger E-box binding homeobox 1 | Retai (1–4 %) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Neužfiksuota | 1 ligoje |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Neužfiksuota | 1 ligoje |
| CLCC1chloride channel CLIC like 1 | Neužfiksuota | 1 ligoje |
| EDNRAendothelin receptor type A | Neužfiksuota | 1 ligoje |
| ESR1estrogen receptor 1 | Neužfiksuota | 1 ligoje |
| HK1hexokinase 1 | Neužfiksuota | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Neužfiksuota | 1 ligoje |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Neužfiksuota | 1 ligoje |
| KRT12keratin 12 | Neužfiksuota | 1 ligoje |
| KRT3keratin 3 | Neužfiksuota | 1 ligoje |
| LRMDAleucine rich melanocyte differentiation associated | Neužfiksuota | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Neužfiksuota | 1 ligoje |
| PIKFYVEphosphoinositide kinase, FYVE-type zinc finger containing | Neužfiksuota | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Neužfiksuota | 1 ligoje |
| TNFtumor necrosis factor | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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