AtlasTunnus
Blind spot
Kliiniline nimetus: Scotoma
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
Kokkuvõte
- Kehasüsteem
- Abnormality of the eye
AtlasSelle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/scotoma.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Blind spot-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test17 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Usher SyndromeReads 11 of these genesADGRV1ARSGCDH23CLRN1HARS1MYO7AAbout this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Hearing Loss and DeafnessReads 7 of these genesCDH23ESPNMYO7APCDH15PDZD7USH1CAbout this report →
Show 13 more reports
- Biotinidase & Holocarboxylase DeficiencyReads 1 of these genesBTDAbout this report →
- Retinitis PigmentosaReads 5 of these genesCLRN1RLBP1USH2ARP1PRPF3About this report →
- Hereditary Episodic AtaxiasReads 1 of these genesCACNA1AAbout this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesMTTPAbout this report →
- Hereditary Macular DystrophiesReads 1 of these genesRLBP1About this report →
- Epilepsy (Full Panel)Reads 4 of these genesATP1A2CACNA1APRRT2SCN1AAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesOPA3About this report →
- Congenital Stationary Night BlindnessReads 1 of these genesRLBP1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesCACNA1AAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesPRRT2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesMTTPAbout this report →
- Leigh SyndromeReads 1 of these genesBTDAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesHARS1About this report →
Lugege välja geenid, mis on seotud Blind spot-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test31 geeni on seotud tunnusega Blind spot
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Blind spot. 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 |
|---|---|---|
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Alati | Esineb 1 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Alati | Esineb 1 haiguses |
| UNC119unc-119 lipid binding chaperone | Alati | Esineb 1 haiguses |
| ADGRV1adhesion G protein-coupled receptor V1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARSGarylsulfatase G | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDH23cadherin related 23 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP78centrosomal protein 78 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLRN1clarin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ESPNespin | Väga sageli (80–99%) | Esineb 1 haiguses |
| HARS1histidyl-tRNA synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYO7Amyosin VIIA | Väga sageli (80–99%) | Esineb 2 haiguses |
| PCDH15protocadherin related 15 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDZD7PDZ domain containing 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| USH1CUSH1 protein network component harmonin | Väga sageli (80–99%) | Esineb 1 haiguses |
| USH1GUSH1 protein network component sans | Väga sageli (80–99%) | Esineb 1 haiguses |
| USH2Ausherin | Väga sageli (80–99%) | Esineb 1 haiguses |
| WHRNwhirlin | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sageli (30–79%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BTDbiotinidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| RP1RP1 axonemal microtubule associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A46solute carrier family 25 member 46 | Mõnikord (5–29%) | Esineb 1 haiguses |
| C1QTNF5C1q and TNF related 5 | Pole registreeritud | Esineb 1 haiguses |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Pole registreeritud | Esineb 1 haiguses |
| PRPF3pre-mRNA processing factor 3 | 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 2026.10.17-8666dff2.
AtlasFrom traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 470+ physician-ready reports.
Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
