Tunnus
Severe near sightedness
Kliiniline nimetus: High myopia
A severe form of myopia with greater than -6.00 diopters.
Kokkuvõte
- Teised nimetused
- Severely close sighted, Severely near sighted, Severe myopia, Severe myopia (> -6.00 diopters)
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Severe near sightedness, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test110 geeni on seotud tunnusega Severe near sightedness
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Severe near sightedness. 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 |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Alati | Esineb 2 haiguses |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Alati | Esineb 2 haiguses |
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| ARR3arrestin 3 | Alati | Esineb 1 haiguses |
| CFAP20cilia and flagella associated protein 20 | Alati | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Alati | Esineb 2 haiguses |
| COL2A1collagen type II alpha 1 chain | Alati | Esineb 2 haiguses |
| COL9A2collagen type IX alpha 2 chain | Alati | Esineb 2 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 4 haiguses |
| FEM1Bfem-1 homolog B | Alati | Esineb 1 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Alati | Esineb 1 haiguses |
| GZF1GDNF inducible zinc finger protein 1 | Alati | Esineb 1 haiguses |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LOXL3lysyl oxidase like 3 | Alati | Esineb 2 haiguses |
| LRIT3leucine rich repeat, Ig-like and transmembrane domains 3 | Alati | Esineb 1 haiguses |
| LRP2LDL receptor related protein 2 | Alati | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Alati | Esineb 1 haiguses |
| NHEJ1non-homologous end joining factor 1 | Alati | Esineb 1 haiguses |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Alati | Esineb 1 haiguses |
| PAK2p21 (RAC1) activated kinase 2 | Alati | Esineb 1 haiguses |
| PDE6Hphosphodiesterase 6H | Alati | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Alati | Esineb 1 haiguses |
| POLR3BRNA polymerase III subunit B | Alati | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alati | Esineb 1 haiguses |
| PPOXprotoporphyrinogen oxidase | Alati | Esineb 1 haiguses |
| PRIMPOLprimase and DNA directed polymerase | Alati | Esineb 1 haiguses |
| RAB28RAB28, member RAS oncogene family | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SLC39A5solute carrier family 39 member 5 | Alati | Esineb 1 haiguses |
| SLITRK6SLIT and NTRK like family member 6 | Alati | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Alati | Esineb 1 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Alati | Esineb 1 haiguses |
| ZNF644zinc finger protein 644 | Alati | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL18A1collagen type XVIII alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL9A1collagen type IX alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL9A3collagen type IX alpha 3 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 70 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CPSF1cleavage and polyadenylation specific factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HYAL2hyaluronidase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LTBP2latent transforming growth factor beta binding protein 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NYXnyctalopin | Väga sageli (80–99%) | Esineb 1 haiguses |
| P3H2prolyl 3-hydroxylase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ASPHaspartate beta-hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EFL1elongation factor like GTPase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC2exosome component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FZD5frizzled class receptor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GLRA2glycine receptor alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| IPO8importin 8 | Sageli (30–79%) | Esineb 1 haiguses |
| IRX5iroquois homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGAVintegrin subunit alpha V | Sageli (30–79%) | Esineb 1 haiguses |
| KAT5lysine acetyltransferase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MANFmesencephalic astrocyte derived neurotrophic factor | Sageli (30–79%) | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Sageli (30–79%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX2paired box 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PRDM5PR/SET domain 5 | Sageli (30–79%) | Esineb 1 haiguses |
| RIN2Ras and Rab interactor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| RP2RP2 activator of ARL3 GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D32TBC1 domain family member 32 | Sageli (30–79%) | Esineb 1 haiguses |
| TTLL5tubulin tyrosine ligase like 5 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS50VPS50 subunit of EARP/GARPII complex | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF469zinc finger protein 469 | Sageli (30–79%) | Esineb 1 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAMTSL4ADAMTS like 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B4GALT1beta-1,4-galactosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAP1BRCA1 associated deubiquitinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCNQcyclin Q | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOHHdeoxyhypusine hydroxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH5diphthamide biosynthesis 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPR179G protein-coupled receptor 179 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYOCmyocilin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POC1BPOC1 centriolar protein B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL10ribosomal protein L10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBItransforming growth factor beta induced | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTRtransthyretin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMSspermine synthase | Harva (1–4%) | Esineb 2 haiguses |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Pole registreeritud | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Pole registreeritud | Esineb 1 haiguses |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Pole registreeritud | Esineb 1 haiguses |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| LRPAP1LDL receptor related protein associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Pole registreeritud | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | 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