Piirre
Corneal opacity
A reduction of corneal clarity.
Yhteenveto
- Tunnetaan myös nimellä
- Corneal clouding, Corneal opacities, Reduction of corneal clarity, Scarring or clouding of the cornea of the eye
- Elimistön järjestelmä
- Abnormality of the eye
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Corneal opacity, and the rest of your genome, with one test.
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Tilaa Genome Test166 geeniä, jotka liittyvät piirteeseen Corneal opacity
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Corneal opacity 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 |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Aina | 2 sairaudessa |
| ARSBarylsulfatase B | Aina | 1 sairaudessa |
| B3GALT6beta-1,3-galactosyltransferase 6 | Aina | 1 sairaudessa |
| BUD13BUD13 spliceosome associated protein | Aina | 1 sairaudessa |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Aina | 1 sairaudessa |
| FKRPfukutin related protein | Aina | 3 sairaudessa |
| FKTNfukutin | Aina | 2 sairaudessa |
| HYAL2hyaluronidase 2 | Aina | 1 sairaudessa |
| IDUAalpha-L-iduronidase | Aina | 6 sairaudessa |
| KERAkeratocan | Aina | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Aina | 2 sairaudessa |
| NDPnorrin cystine knot growth factor NDP | Aina | 3 sairaudessa |
| NGLY1N-glycanase 1 | Aina | 1 sairaudessa |
| PLCB3phospholipase C beta 3 | Aina | 1 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Aina | 2 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Aina | 2 sairaudessa |
| PXDNperoxidasin | Aina | 1 sairaudessa |
| RBM8ARNA binding motif protein 8A | Aina | 1 sairaudessa |
| TGFBItransforming growth factor beta induced | Aina | 2 sairaudessa |
| AGBL1AGBL carboxypeptidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATOH7atonal bHLH transcription factor 7 | Hyvin usein (80–99%) | 2 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| BMP4bone morphogenetic protein 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Hyvin usein (80–99%) | 1 sairaudessa |
| BUB3BUB3 mitotic checkpoint protein | Hyvin usein (80–99%) | 1 sairaudessa |
| CEP57centrosomal protein 57 | Hyvin usein (80–99%) | 1 sairaudessa |
| COL11A1collagen type XI alpha 1 chain | Hyvin usein (80–99%) | 1 sairaudessa |
| COL8A2collagen type VIII alpha 2 chain | Hyvin usein (80–99%) | 3 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Hyvin usein (80–99%) | 1 sairaudessa |
| CTSAcathepsin A | Hyvin usein (80–99%) | 1 sairaudessa |
| FOXE3forkhead box E3 | Hyvin usein (80–99%) | 2 sairaudessa |
| FZD4frizzled class receptor 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| GLAgalactosidase alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| GUSBglucuronidase beta | Hyvin usein (80–99%) | 2 sairaudessa |
| HCCSholocytochrome c synthase | Hyvin usein (80–99%) | 1 sairaudessa |
| LCATlecithin-cholesterol acyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| MAB21L1mab-21 like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 126 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| NEU1neuraminidase 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX10peroxisomal biogenesis factor 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX11Bperoxisomal biogenesis factor 11 beta | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX12peroxisomal biogenesis factor 12 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX13peroxisomal biogenesis factor 13 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX14peroxisomal biogenesis factor 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX19peroxisomal biogenesis factor 19 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX2peroxisomal biogenesis factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX26peroxisomal biogenesis factor 26 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX3peroxisomal biogenesis factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC4A11solute carrier family 4 member 11 | Hyvin usein (80–99%) | 3 sairaudessa |
| TATtyrosine aminotransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| TCF4transcription factor 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| TRIP13thyroid hormone receptor interactor 13 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZEB1zinc finger E-box binding homeobox 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| COL4A1collagen type IV alpha 1 chain | Usein (30–79%) | 2 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Usein (30–79%) | 1 sairaudessa |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Usein (30–79%) | 2 sairaudessa |
| DAG1dystroglycan 1 | Usein (30–79%) | 1 sairaudessa |
| DNA2DNA replication helicase/nuclease 2 | Usein (30–79%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Usein (30–79%) | 1 sairaudessa |
| FOXC1forkhead box C1 | Usein (30–79%) | 1 sairaudessa |
| FUCA1alpha-L-fucosidase 1 | Usein (30–79%) | 1 sairaudessa |
| GBA1glucosylceramidase beta 1 | Usein (30–79%) | 2 sairaudessa |
| GLB1galactosidase beta 1 | Usein (30–79%) | 1 sairaudessa |
| GON4Lgon-4 like | Usein (30–79%) | 1 sairaudessa |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Usein (30–79%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Usein (30–79%) | 2 sairaudessa |
| LRP5LDL receptor related protein 5 | Usein (30–79%) | 1 sairaudessa |
| LTBP2latent transforming growth factor beta binding protein 2 | Usein (30–79%) | 2 sairaudessa |
| MAFBMAF bZIP transcription factor B | Usein (30–79%) | 1 sairaudessa |
| MMP2matrix metallopeptidase 2 | Usein (30–79%) | 1 sairaudessa |
| MYOCmyocilin | Usein (30–79%) | 1 sairaudessa |
| NEUROG1neurogenin 1 | Usein (30–79%) | 1 sairaudessa |
| PAX6paired box 6 | Usein (30–79%) | 2 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Usein (30–79%) | 1 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Usein (30–79%) | 1 sairaudessa |
| PLXND1plexin D1 | Usein (30–79%) | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Usein (30–79%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Usein (30–79%) | 1 sairaudessa |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Usein (30–79%) | 1 sairaudessa |
| POMKprotein O-mannose kinase | Usein (30–79%) | 1 sairaudessa |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Usein (30–79%) | 1 sairaudessa |
| RIPK4receptor interacting serine/threonine kinase 4 | Usein (30–79%) | 1 sairaudessa |
| RXYLT1ribitol xylosyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| ST14ST14 transmembrane serine protease matriptase | Usein (30–79%) | 1 sairaudessa |
| STSsteroid sulfatase | Usein (30–79%) | 1 sairaudessa |
| SUMF1sulfatase modifying factor 1 | Usein (30–79%) | 2 sairaudessa |
| TEKTEK receptor tyrosine kinase | Usein (30–79%) | 1 sairaudessa |
| TRIM44TRIM family member 44 | Usein (30–79%) | 1 sairaudessa |
| TWIST2twist family bHLH transcription factor 2 | Usein (30–79%) | 1 sairaudessa |
| ABCA1ATP binding cassette subfamily A member 1 | Joskus (5–29%) | 1 sairaudessa |
| ASAH1N-acylsphingosine amidohydrolase 1 | Joskus (5–29%) | 1 sairaudessa |
| ATAD3AATPase family AAA domain containing 3A | Joskus (5–29%) | 2 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Joskus (5–29%) | 1 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Joskus (5–29%) | 1 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Joskus (5–29%) | 1 sairaudessa |
| COLEC10collectin subfamily member 10 | Joskus (5–29%) | 1 sairaudessa |
| CRYAAcrystallin alpha A | Joskus (5–29%) | 1 sairaudessa |
| CRYBA4crystallin beta A4 | Joskus (5–29%) | 1 sairaudessa |
| CRYBB1crystallin beta B1 | Joskus (5–29%) | 1 sairaudessa |
| CRYBB2crystallin beta B2 | Joskus (5–29%) | 1 sairaudessa |
| CRYGCcrystallin gamma C | Joskus (5–29%) | 1 sairaudessa |
| CRYGDcrystallin gamma D | Joskus (5–29%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Joskus (5–29%) | 1 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Joskus (5–29%) | 1 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Joskus (5–29%) | 1 sairaudessa |
| ELNelastin | Joskus (5–29%) | 2 sairaudessa |
| ELP1elongator acetyltransferase complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| FBLN5fibulin 5 | Joskus (5–29%) | 1 sairaudessa |
| FERMT1FERM domain containing kindlin 1 | Joskus (5–29%) | 1 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Joskus (5–29%) | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| GJA8gap junction protein alpha 8 | Joskus (5–29%) | 1 sairaudessa |
| GJB3gap junction protein beta 3 | Joskus (5–29%) | 1 sairaudessa |
| GJB4gap junction protein beta 4 | Joskus (5–29%) | 1 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Joskus (5–29%) | 1 sairaudessa |
| GTF2Igeneral transcription factor IIi | Joskus (5–29%) | 1 sairaudessa |
| GTF2IRD1GTF2I repeat domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| HRASHRas proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| KDSR3-ketodihydrosphingosine reductase | Joskus (5–29%) | 1 sairaudessa |
| KRT14keratin 14 | Joskus (5–29%) | 1 sairaudessa |
| KRT5keratin 5 | Joskus (5–29%) | 1 sairaudessa |
| LIMK1LIM domain kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| LMNAlamin A/C | Joskus (5–29%) | 1 sairaudessa |
| MAFMAF bZIP transcription factor | Joskus (5–29%) | 2 sairaudessa |
| MAN2B1mannosidase alpha class 2B member 1 | Joskus (5–29%) | 2 sairaudessa |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Joskus (5–29%) | 1 sairaudessa |
| METTL27methyltransferase like 27 | Joskus (5–29%) | 1 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | Joskus (5–29%) | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Joskus (5–29%) | 1 sairaudessa |
| OTUD5OTU deubiquitinase 5 | Joskus (5–29%) | 1 sairaudessa |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Joskus (5–29%) | 2 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Joskus (5–29%) | 1 sairaudessa |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| PORCNporcupine O-acyltransferase | Joskus (5–29%) | 1 sairaudessa |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Joskus (5–29%) | 1 sairaudessa |
| RFC2replication factor C subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Joskus (5–29%) | 1 sairaudessa |
| STX1Asyntaxin 1A | Joskus (5–29%) | 1 sairaudessa |
| TBCEtubulin folding cofactor E | Joskus (5–29%) | 1 sairaudessa |
| TBCKTBC1 domain containing kinase | Joskus (5–29%) | 2 sairaudessa |
| TBL2transducin beta like 2 | Joskus (5–29%) | 1 sairaudessa |
| TMEM270transmembrane protein 270 | Joskus (5–29%) | 1 sairaudessa |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Joskus (5–29%) | 1 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Joskus (5–29%) | 1 sairaudessa |
| YAP1Yes1 associated transcriptional regulator | Joskus (5–29%) | 1 sairaudessa |
| ZMPSTE24zinc metallopeptidase STE24 | Joskus (5–29%) | 1 sairaudessa |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GRHL2grainyhead like transcription factor 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| MT-CYBmitochondrially encoded cytochrome b | Harvinainen (1–4 %) | 1 sairaudessa |
| OVOL2ovo like zinc finger 2 | Harvinainen (1–4 %) | 2 sairaudessa |
| VSX1visual system homeobox 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| DYMdymeclin | Ei kirjattu | 1 sairaudessa |
| FLNBfilamin B | Ei kirjattu | 1 sairaudessa |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ei kirjattu | 1 sairaudessa |
| KIF11kinesin family member 11 | 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.
Tarkemmat piirteet
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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