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Požymis
Cat eye
Klinikinis pavadinimas: Iris coloboma
A coloboma of the iris.
Santrauka
- Taip pat vadinama
- Coloboma of iris, Coloboma of the iris, Keyhole iris
- Kūno sistema
- Abnormality of the eye
Cat eyeHP:0000612
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Read the genes linked to Cat eye, and the rest of your genome, with one test.
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Įsigyti savo Genome Test181 genas susijęs su Cat eye
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Cat eye. 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 |
|---|---|---|
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Visada | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Visada | 2 ligose |
| BCORBCL6 corepressor | Visada | 4 ligose |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| HMGB3high mobility group box 3 | Visada | 1 ligoje |
| HMX1H6 family homeobox 1 | Visada | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Visada | 2 ligose |
| RBP4retinol binding protein 4 | Visada | 2 ligose |
| TENM3teneurin transmembrane protein 3 | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 2 ligose |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Labai dažnai (80–99%) | 2 ligose |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 2 ligose |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Labai dažnai (80–99%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Labai dažnai (80–99%) | 2 ligose |
| YAP1Yes1 associated transcriptional regulator | Labai dažnai (80–99%) | 2 ligose |
| ALX3ALX homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 2 ligose |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 2 ligose |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 2 ligose |
| ELP4elongator acetyltransferase complex subunit 4 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 3 ligose |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| FZD5frizzled class receptor 5 | Dažnai (30–79%) | 1 ligoje |
| GZF1GDNF inducible zinc finger protein 1 | Dažnai (30–79%) | 1 ligoje |
| IGBP1immunoglobulin binding protein 1 | Dažnai (30–79%) | 2 ligose |
| INPP5Einositol polyphosphate-5-phosphatase E | Dažnai (30–79%) | 3 ligose |
| KIFBPkinesin family binding protein | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 2 ligose |
| LRP2LDL receptor related protein 2 | Dažnai (30–79%) | 2 ligose |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Dažnai (30–79%) | 1 ligoje |
| MIR204microRNA 204 | Dažnai (30–79%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Dažnai (30–79%) | 1 ligoje |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 2 ligose |
Rodyti dar 141 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| OTX2orthodenticle homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 2 ligose |
| POLR1BRNA polymerase I subunit B | Dažnai (30–79%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Dažnai (30–79%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Dažnai (30–79%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Dažnai (30–79%) | 2 ligose |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| RB1RB transcriptional corepressor 1 | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| ROR1ROR family WNT receptor 1 | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Dažnai (30–79%) | 2 ligose |
| RSPO2R-spondin 2 | Dažnai (30–79%) | 1 ligoje |
| SALL2spalt like transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Dažnai (30–79%) | 2 ligose |
| SRD5A3steroid 5 alpha-reductase 3 | Dažnai (30–79%) | 1 ligoje |
| TBX22T-box transcription factor 22 | Dažnai (30–79%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Dažnai (30–79%) | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Dažnai (30–79%) | 2 ligose |
| TMEM138transmembrane protein 138 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Dažnai (30–79%) | 3 ligose |
| TMEM67transmembrane protein 67 | Dažnai (30–79%) | 2 ligose |
| WNT3Wnt family member 3 | Dažnai (30–79%) | 1 ligoje |
| ZNF423zinc finger protein 423 | Dažnai (30–79%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Kartais (5–29%) | 2 ligose |
| ANK1ankyrin 1 | Kartais (5–29%) | 1 ligoje |
| ARL13BARF like GTPase 13B | Kartais (5–29%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| ATOH7atonal bHLH transcription factor 7 | Kartais (5–29%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Kartais (5–29%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| B9D1B9 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| B9D2B9 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| C12orf57chromosome 12 open reading frame 57 | Kartais (5–29%) | 1 ligoje |
| CBY1chibby 1, beta catenin antagonist | Kartais (5–29%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Kartais (5–29%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 1 ligoje |
| CEP104centrosomal protein 104 | Kartais (5–29%) | 1 ligoje |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 2 ligose |
| CEP41centrosomal protein 41 | Kartais (5–29%) | 2 ligose |
| CHN1chimerin 1 | Kartais (5–29%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Kartais (5–29%) | 1 ligoje |
| CRYAAcrystallin alpha A | Kartais (5–29%) | 2 ligose |
| 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 |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Kartais (5–29%) | 1 ligoje |
| DAG1dystroglycan 1 | Kartais (5–29%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| FGF3fibroblast growth factor 3 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 1 ligoje |
| FKRPfukutin related protein | Kartais (5–29%) | 1 ligoje |
| FKTNfukutin | Kartais (5–29%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Kartais (5–29%) | 1 ligoje |
| FLNAfilamin A | Kartais (5–29%) | 2 ligose |
| FOXH1forkhead box H1 | Kartais (5–29%) | 1 ligoje |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| GNAQG protein subunit alpha q | Kartais (5–29%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| KATNIPkatanin interacting protein | Kartais (5–29%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 2 ligose |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 3 ligose |
| MMP14matrix metallopeptidase 14 | Kartais (5–29%) | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Kartais (5–29%) | 1 ligoje |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 1 ligoje |
| NOTCH2notch receptor 2 | Kartais (5–29%) | 2 ligose |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Kartais (5–29%) | 1 ligoje |
| PIBF1progesterone immunomodulatory binding factor 1 | Kartais (5–29%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Kartais (5–29%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kartais (5–29%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Kartais (5–29%) | 1 ligoje |
| POMKprotein O-mannose kinase | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| PTCH1patched 1 | Kartais (5–29%) | 4 ligose |
| PTCH2patched 2 | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 3 ligose |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 2 ligose |
| SIX6SIX homeobox 6 | Kartais (5–29%) | 1 ligoje |
| SOX2SRY-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 3 ligose |
| TCEAL1transcription elongation factor A like 1 | Kartais (5–29%) | 1 ligoje |
| TCTN1tectonic family member 1 | Kartais (5–29%) | 1 ligoje |
| TCTN2tectonic family member 2 | Kartais (5–29%) | 1 ligoje |
| TCTN3tectonic family member 3 | Kartais (5–29%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 1 ligoje |
| TMEM218transmembrane protein 218 | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Kartais (5–29%) | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Kartais (5–29%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 3 ligose |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Retai (1–4 %) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Retai (1–4 %) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| TRIM37tripartite motif containing 37 | Retai (1–4 %) | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Neužfiksuota | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Neužfiksuota | 1 ligoje |
| CENPFcentromere protein F | Neužfiksuota | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Neužfiksuota | 1 ligoje |
| GDF3growth differentiation factor 3 | Neužfiksuota | 1 ligoje |
| HCCSholocytochrome c synthase | Neužfiksuota | 1 ligoje |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Neužfiksuota | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Neužfiksuota | 1 ligoje |
| VSX2visual system homeobox 2 | 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.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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