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Tunnus
Cat eye
Kliiniline nimetus: Iris coloboma
A coloboma of the iris.
Kokkuvõte
- Teised nimetused
- Coloboma of iris, Coloboma of the iris, Keyhole iris
- Kehasüsteem
- Abnormality of the eye
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/iris-coloboma.json"
page <- fromJSON(url)
page$trait$nameCat eyeHP:0000612
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Cat eye-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test181 geeni on seotud tunnusega Cat eye
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Cat eye. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Alati | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alati | Esineb 2 haiguses |
| BCORBCL6 corepressor | Alati | Esineb 4 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| HMGB3high mobility group box 3 | Alati | Esineb 1 haiguses |
| HMX1H6 family homeobox 1 | Alati | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Alati | Esineb 2 haiguses |
| RBP4retinol binding protein 4 | Alati | Esineb 2 haiguses |
| TENM3teneurin transmembrane protein 3 | Alati | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACTG1actin gamma 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HRASHRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 2 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Väga sageli (80–99%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Väga sageli (80–99%) | Esineb 2 haiguses |
| YAP1Yes1 associated transcriptional regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALX3ALX homeobox 3 | Sageli (30–79%) | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sageli (30–79%) | Esineb 2 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ELP4elongator acetyltransferase complex subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 3 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FZD5frizzled class receptor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GZF1GDNF inducible zinc finger protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IGBP1immunoglobulin binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Sageli (30–79%) | Esineb 3 haiguses |
| KIFBPkinesin family binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| LRP2LDL receptor related protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MIR204microRNA 204 | Sageli (30–79%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Sageli (30–79%) | Esineb 1 haiguses |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 141 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| OTX2orthodenticle homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| POLR1BRNA polymerase I subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Sageli (30–79%) | Esineb 1 haiguses |
| POLR1DRNA polymerase I and III subunit D | Sageli (30–79%) | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| PRR12proline rich 12 | Sageli (30–79%) | Esineb 1 haiguses |
| RB1RB transcriptional corepressor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Sageli (30–79%) | Esineb 1 haiguses |
| ROR1ROR family WNT receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Sageli (30–79%) | Esineb 2 haiguses |
| RSPO2R-spondin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SALL2spalt like transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Sageli (30–79%) | Esineb 2 haiguses |
| SRD5A3steroid 5 alpha-reductase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX22T-box transcription factor 22 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX4T-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM138transmembrane protein 138 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Sageli (30–79%) | Esineb 3 haiguses |
| TMEM67transmembrane protein 67 | Sageli (30–79%) | Esineb 2 haiguses |
| WNT3Wnt family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF423zinc finger protein 423 | Sageli (30–79%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ANK1ankyrin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL13BARF like GTPase 13B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARMC9armadillo repeat containing 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATOH7atonal bHLH transcription factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B9D1B9 domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| C12orf57chromosome 12 open reading frame 57 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBY1chibby 1, beta catenin antagonist | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDONcell adhesion associated, oncogene regulated | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP104centrosomal protein 104 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CEP41centrosomal protein 41 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CHN1chimerin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRIPTOcripto, EGF-CFC family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRYAAcrystallin alpha A | Mõnikord (5–29%) | Esineb 2 haiguses |
| CRYBA4crystallin beta A4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRYBB1crystallin beta B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRYBB2crystallin beta B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRYGCcrystallin gamma C | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRYGDcrystallin gamma D | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DACT1dishevelled binding antagonist of beta catenin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DISP1dispatched RND transporter family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLL1delta like canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF3fibroblast growth factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKTNfukutin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNAfilamin A | Mõnikord (5–29%) | Esineb 2 haiguses |
| FOXH1forkhead box H1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAS1growth arrest specific 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNAQG protein subunit alpha q | Mõnikord (5–29%) | Esineb 1 haiguses |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KATNIPkatanin interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCTD1potassium channel tetramerization domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAFBMAF bZIP transcription factor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12Lmediator complex subunit 12L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| MMP14matrix metallopeptidase 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMP2matrix metallopeptidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NOTCH3notch receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDE6Dphosphodiesterase 6D | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIBF1progesterone immunomodulatory binding factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| PTCH2patched 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| RXYLT1ribitol xylosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL1spalt like transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL4spalt like transcription factor 4 | Mõnikord (5–29%) | Esineb 3 haiguses |
| SIX3SIX homeobox 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SIX6SIX homeobox 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX2SRY-box transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Mõnikord (5–29%) | Esineb 3 haiguses |
| TCEAL1transcription elongation factor A like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGIF1TGFB induced factor homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM218transmembrane protein 218 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS13Bvacuolar protein sorting 13 homolog B | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Mõnikord (5–29%) | Esineb 1 haiguses |
| WASHC5WASH complex subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| ZIC2Zic family zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Harva (1–4%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Harva (1–4%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| TRIM37tripartite motif containing 37 | Harva (1–4%) | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| CENPFcentromere protein F | Pole registreeritud | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Pole registreeritud | Esineb 1 haiguses |
| GDF3growth differentiation factor 3 | Pole registreeritud | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Pole registreeritud | Esineb 1 haiguses |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Pole registreeritud | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Pole registreeritud | Esineb 1 haiguses |
| VSX2visual system homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast