Tunnus
Retinal detachment
Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
Kokkuvõte
- Teised nimetused
- Detached retina
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Retinal detachment, 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 Retinal detachment
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Retinal detachment. 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 |
|---|---|---|
| COL9A2collagen type IX alpha 2 chain | Alati | Esineb 2 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| HYAL2hyaluronidase 2 | Alati | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Alati | Esineb 3 haiguses |
| NDPnorrin cystine knot growth factor NDP | Alati | Esineb 4 haiguses |
| NHEJ1non-homologous end joining factor 1 | Alati | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Alati | Esineb 2 haiguses |
| PAK2p21 (RAC1) activated kinase 2 | Alati | Esineb 2 haiguses |
| TUBTUB bipartite transcription factor | Alati | Esineb 1 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Alati | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Väga sageli (80–99%) | Esineb 4 haiguses |
| COL18A1collagen type XVIII alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL2A1collagen type II alpha 1 chain | Väga sageli (80–99%) | Esineb 8 haiguses |
| COL4A1collagen type IV alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Väga sageli (80–99%) | Esineb 2 haiguses |
| DAG1dystroglycan 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Väga sageli (80–99%) | Esineb 4 haiguses |
| FKTNfukutin | Väga sageli (80–99%) | Esineb 3 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMT1protein O-mannosyltransferase 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| POMT2protein O-mannosyltransferase 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| RXYLT1ribitol xylosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| XYLT2xylosyltransferase 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADAMTSL1ADAMTS like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Sageli (30–79%) | Esineb 1 haiguses |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CBScystathionine beta-synthase | Sageli (30–79%) | Esineb 2 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Sageli (30–79%) | Esineb 2 haiguses |
| DSEdermatan sulfate epimerase | Sageli (30–79%) | Esineb 1 haiguses |
| FASFas cell surface death receptor | Sageli (30–79%) | Esineb 1 haiguses |
| FOXE3forkhead box E3 | Sageli (30–79%) | Esineb 1 haiguses |
| FZD4frizzled class receptor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GNA11G protein subunit alpha 11 | Sageli (30–79%) | Esineb 1 haiguses |
| GZF1GDNF inducible zinc finger protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 70 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HMX1H6 family homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Sageli (30–79%) | Esineb 2 haiguses |
| LOXL3lysyl oxidase like 3 | Sageli (30–79%) | Esineb 2 haiguses |
| LRP2LDL receptor related protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Sageli (30–79%) | Esineb 2 haiguses |
| P3H2prolyl 3-hydroxylase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Sageli (30–79%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sageli (30–79%) | Esineb 1 haiguses |
| RS1retinoschisin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SETD2SET domain containing 2, histone lysine methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| SIX6SIX homeobox 6 | Sageli (30–79%) | Esineb 1 haiguses |
| TINF2TERF1 interacting nuclear factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| VCANversican | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAMTSL4ADAMTS like 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Mõnikord (5–29%) | Esineb 2 haiguses |
| CABP4calcium binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHRDL1chordin like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL9A1collagen type IX alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL9A3collagen type IX alpha 3 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNMT3BDNA methyltransferase 3 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| DUX4double homeobox 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| FRG1FSHD region gene 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD5frizzled class receptor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNAQG protein subunit alpha q | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Amajor histocompatibility complex, class I, A | Mõnikord (5–29%) | Esineb 1 haiguses |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Mõnikord (5–29%) | Esineb 2 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF11kinesin family member 11 | Mõnikord (5–29%) | Esineb 2 haiguses |
| LCA5lebercilin LCA5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MFRPmembrane frizzled-related protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NHSNHS actin remodeling regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRCAMneuronal cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX2paired box 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX6paired box 6 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PRDM5PR/SET domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRPH2peripherin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPATA7spermatogenesis associated 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| YAP1Yes1 associated transcriptional regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF469zinc finger protein 469 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCND1cyclin D1 | Harva (1–4%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Harva (1–4%) | Esineb 2 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Harva (1–4%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | Harva (1–4%) | Esineb 1 haiguses |
| BEST1bestrophin 1 | Pole registreeritud | Esineb 2 haiguses |
| CAPN5calpain 5 | Pole registreeritud | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Pole registreeritud | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Pole registreeritud | Esineb 1 haiguses |
| LRP6LDL receptor related protein 6 | Pole registreeritud | Esineb 1 haiguses |
| TENM3teneurin transmembrane protein 3 | Pole registreeritud | Esineb 1 haiguses |
| TRAPPC2trafficking protein particle complex subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| TUBGCP6tubulin gamma complex component 6 | 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.
Kitsamad tunnused
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