Tunnus
Cornea of eye less than 10mm in diameter
Kliiniline nimetus: Microcornea
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Kokkuvõte
- Teised nimetused
- Decreased corneal diameter
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Cornea of eye less than 10mm in diameter, and the rest of your genome, with one test.
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Telli oma Genome Test142 geeni on seotud tunnusega Cornea of eye less than 10mm in diameter
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Cornea of eye less than 10mm in diameter. 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 |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Alati | Esineb 1 haiguses |
| ARL2ARF like GTPase 2 | Alati | Esineb 1 haiguses |
| CRYBA4crystallin beta A4 | Alati | Esineb 2 haiguses |
| HMGB3high mobility group box 3 | Alati | Esineb 1 haiguses |
| NHEJ1non-homologous end joining factor 1 | Alati | Esineb 1 haiguses |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Alati | Esineb 1 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alati | Esineb 2 haiguses |
| RAB18RAB18, member RAS oncogene family | Alati | Esineb 2 haiguses |
| TENM3teneurin transmembrane protein 3 | Alati | Esineb 1 haiguses |
| BCORBCL6 corepressor | Väga sageli (80–99%) | Esineb 4 haiguses |
| CRYAAcrystallin alpha A | Väga sageli (80–99%) | Esineb 2 haiguses |
| CRYBB1crystallin beta B1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CRYBB2crystallin beta B2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRYGCcrystallin gamma C | Väga sageli (80–99%) | Esineb 2 haiguses |
| CRYGDcrystallin gamma D | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTDP1CTD phosphatase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FANCBFA complementation group B | Väga sageli (80–99%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| GJA8gap junction protein alpha 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAFMAF bZIP transcription factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| NHSNHS actin remodeling regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBC1D20TBC1 domain family member 20 | Väga sageli (80–99%) | Esineb 2 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| B9D1B9 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Sageli (30–79%) | Esineb 2 haiguses |
| BRD4bromodomain containing 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Sageli (30–79%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| HMX1H6 family homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAB21L2mab-21 like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Sageli (30–79%) | Esineb 1 haiguses |
| MED25mediator complex subunit 25 | Sageli (30–79%) | Esineb 2 haiguses |
| MITFmelanocyte inducing transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 102 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| NIPBLNIPBL cohesin loading factor | Sageli (30–79%) | Esineb 2 haiguses |
| PXDNperoxidasin | Sageli (30–79%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1RPGR interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Sageli (30–79%) | Esineb 1 haiguses |
| RSPO2R-spondin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SC5Dsterol-C5-desaturase | Sageli (30–79%) | Esineb 1 haiguses |
| SLC16A12solute carrier family 16 member 12 | Sageli (30–79%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Sageli (30–79%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TBX4T-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM107transmembrane protein 107 | 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 1 haiguses |
| TMEM67transmembrane protein 67 | Sageli (30–79%) | Esineb 1 haiguses |
| TXNDC15thioredoxin domain containing 15 | Sageli (30–79%) | Esineb 1 haiguses |
| UBE3Bubiquitin protein ligase E3B | Sageli (30–79%) | Esineb 2 haiguses |
| WNT3Wnt family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTBactin beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTG1actin gamma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANK1ankyrin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATOH7atonal bHLH transcription factor 7 | Mõnikord (5–29%) | Esineb 2 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHN1chimerin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF3fibroblast growth factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKTNfukutin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD4frizzled class receptor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GORABgolgin, RAB6 interacting | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KDM6Alysine demethylase 6A | 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 |
| MAFBMAF bZIP transcription factor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| NDPnorrin cystine knot growth factor NDP | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX6paired box 6 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PLK4polo like kinase 4 | 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 |
| PORCNporcupine O-acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRR12proline rich 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRSS56serine protease 56 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBP4retinol binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RXYLT1ribitol xylosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL4spalt like transcription factor 4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TARS1threonyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX22T-box transcription factor 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSHZ3teashirt zinc finger homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBBtubulin beta class I | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Harva (1–4%) | Esineb 2 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Harva (1–4%) | Esineb 1 haiguses |
| FKBP14FKBP prolyl isomerase 14 | Harva (1–4%) | Esineb 1 haiguses |
| BEST1bestrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| CENPFcentromere protein F | Pole registreeritud | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Pole registreeritud | Esineb 1 haiguses |
| FOXE3forkhead box E3 | Pole registreeritud | Esineb 1 haiguses |
| FOXL2forkhead box L2 | Pole registreeritud | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Pole registreeritud | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Pole registreeritud | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Pole registreeritud | Esineb 1 haiguses |
| MIR184microRNA 184 | Pole registreeritud | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| PITX2paired like homeodomain 2 | Pole registreeritud | Esineb 1 haiguses |
| PITX3paired like homeodomain 3 | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Pole registreeritud | Esineb 1 haiguses |
| TBX15T-box transcription factor 15 | 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast