Požymis
Corneal opacity
A reduction of corneal clarity.
Santrauka
- Taip pat vadinama
- Corneal clouding, Corneal opacities, Reduction of corneal clarity, Scarring or clouding of the cornea of the eye
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test166 genų susiję su Corneal opacity
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Corneal opacity. 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 |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Visada | 2 ligose |
| ARSBarylsulfatase B | Visada | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Visada | 1 ligoje |
| BUD13BUD13 spliceosome associated protein | Visada | 1 ligoje |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Visada | 1 ligoje |
| FKRPfukutin related protein | Visada | 3 ligose |
| FKTNfukutin | Visada | 2 ligose |
| HYAL2hyaluronidase 2 | Visada | 1 ligoje |
| IDUAalpha-L-iduronidase | Visada | 6 ligose |
| KERAkeratocan | Visada | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 2 ligose |
| NDPnorrin cystine knot growth factor NDP | Visada | 3 ligose |
| NGLY1N-glycanase 1 | Visada | 1 ligoje |
| PLCB3phospholipase C beta 3 | Visada | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Visada | 2 ligose |
| POMT2protein O-mannosyltransferase 2 | Visada | 2 ligose |
| PXDNperoxidasin | Visada | 1 ligoje |
| RBM8ARNA binding motif protein 8A | Visada | 1 ligoje |
| TGFBItransforming growth factor beta induced | Visada | 2 ligose |
| AGBL1AGBL carboxypeptidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ATOH7atonal bHLH transcription factor 7 | Labai dažnai (80–99%) | 2 ligose |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Labai dažnai (80–99%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Labai dažnai (80–99%) | 1 ligoje |
| CEP57centrosomal protein 57 | Labai dažnai (80–99%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL8A2collagen type VIII alpha 2 chain | Labai dažnai (80–99%) | 3 ligose |
| COX7Bcytochrome c oxidase subunit 7B | Labai dažnai (80–99%) | 1 ligoje |
| CTSAcathepsin A | Labai dažnai (80–99%) | 1 ligoje |
| FOXE3forkhead box E3 | Labai dažnai (80–99%) | 2 ligose |
| FZD4frizzled class receptor 4 | Labai dažnai (80–99%) | 1 ligoje |
| GLAgalactosidase alpha | Labai dažnai (80–99%) | 1 ligoje |
| GUSBglucuronidase beta | Labai dažnai (80–99%) | 2 ligose |
| HCCSholocytochrome c synthase | Labai dažnai (80–99%) | 1 ligoje |
| LCATlecithin-cholesterol acyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| MAB21L1mab-21 like 1 | Labai dažnai (80–99%) | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Labai dažnai (80–99%) | 2 ligose |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 126 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NEU1neuraminidase 1 | Labai dažnai (80–99%) | 3 ligose |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Labai dažnai (80–99%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Labai dažnai (80–99%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| SLC4A11solute carrier family 4 member 11 | Labai dažnai (80–99%) | 3 ligose |
| TATtyrosine aminotransferase | Labai dažnai (80–99%) | 1 ligoje |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
| TRIP13thyroid hormone receptor interactor 13 | Labai dažnai (80–99%) | 1 ligoje |
| ZEB1zinc finger E-box binding homeobox 1 | Labai dažnai (80–99%) | 2 ligose |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 1 ligoje |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Dažnai (30–79%) | 2 ligose |
| DAG1dystroglycan 1 | Dažnai (30–79%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| FOXC1forkhead box C1 | Dažnai (30–79%) | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Dažnai (30–79%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Dažnai (30–79%) | 2 ligose |
| GLB1galactosidase beta 1 | Dažnai (30–79%) | 1 ligoje |
| GON4Lgon-4 like | Dažnai (30–79%) | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 2 ligose |
| LRP5LDL receptor related protein 5 | Dažnai (30–79%) | 1 ligoje |
| LTBP2latent transforming growth factor beta binding protein 2 | Dažnai (30–79%) | 2 ligose |
| MAFBMAF bZIP transcription factor B | Dažnai (30–79%) | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Dažnai (30–79%) | 1 ligoje |
| MYOCmyocilin | Dažnai (30–79%) | 1 ligoje |
| NEUROG1neurogenin 1 | Dažnai (30–79%) | 1 ligoje |
| PAX6paired box 6 | Dažnai (30–79%) | 2 ligose |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Dažnai (30–79%) | 1 ligoje |
| PLXND1plexin D1 | Dažnai (30–79%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Dažnai (30–79%) | 1 ligoje |
| POMKprotein O-mannose kinase | Dažnai (30–79%) | 1 ligoje |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| ST14ST14 transmembrane serine protease matriptase | Dažnai (30–79%) | 1 ligoje |
| STSsteroid sulfatase | Dažnai (30–79%) | 1 ligoje |
| SUMF1sulfatase modifying factor 1 | Dažnai (30–79%) | 2 ligose |
| TEKTEK receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| TRIM44TRIM family member 44 | Dažnai (30–79%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| ABCA1ATP binding cassette subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 2 ligose |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Kartais (5–29%) | 1 ligoje |
| CRYAAcrystallin alpha A | Kartais (5–29%) | 1 ligoje |
| CRYBA4crystallin beta A4 | Kartais (5–29%) | 1 ligoje |
| CRYBB1crystallin beta B1 | Kartais (5–29%) | 1 ligoje |
| CRYBB2crystallin beta B2 | Kartais (5–29%) | 1 ligoje |
| CRYGCcrystallin gamma C | Kartais (5–29%) | 1 ligoje |
| CRYGDcrystallin gamma D | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 2 ligose |
| ELP1elongator acetyltransferase complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| FBLN5fibulin 5 | Kartais (5–29%) | 1 ligoje |
| FERMT1FERM domain containing kindlin 1 | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Kartais (5–29%) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Kartais (5–29%) | 1 ligoje |
| GJB3gap junction protein beta 3 | Kartais (5–29%) | 1 ligoje |
| GJB4gap junction protein beta 4 | Kartais (5–29%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| KDSR3-ketodihydrosphingosine reductase | Kartais (5–29%) | 1 ligoje |
| KRT14keratin 14 | Kartais (5–29%) | 1 ligoje |
| KRT5keratin 5 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LMNAlamin A/C | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 2 ligose |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 2 ligose |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Kartais (5–29%) | 1 ligoje |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Kartais (5–29%) | 2 ligose |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Kartais (5–29%) | 1 ligoje |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 2 ligose |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| YAP1Yes1 associated transcriptional regulator | Kartais (5–29%) | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| GRHL2grainyhead like transcription factor 2 | Retai (1–4 %) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Retai (1–4 %) | 1 ligoje |
| OVOL2ovo like zinc finger 2 | Retai (1–4 %) | 2 ligose |
| VSX1visual system homeobox 1 | Retai (1–4 %) | 1 ligoje |
| DYMdymeclin | Neužfiksuota | 1 ligoje |
| FLNBfilamin B | Neužfiksuota | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Neužfiksuota | 1 ligoje |
| KIF11kinesin family member 11 | 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.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
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