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eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network: eyeGENE

IDNBDC common database IDs, which should be written in parentheses if there are multiple titles, such as Japanese and English. NBDC02275
Database nameName of the database eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network
Alternative nameAlternative name of the database eyeGENE
URLURL of the database https://eyegene.nih.gov
Database maintenance siteSite maintaining the database NEI NIH(National Eye Institute)
Country/RegionCountry or region name where the database maintenance site is located United States
Database descriptionDatabase descirption The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community. The core mission of eyeGENE® is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. eyeGENE® was designed to achieve this goal through clinical and molecular diagnosis coupled with granting controlled access to clinical and genetic information in a data repository, to DNA in a biorepository, and to individuals consented to participate in research and clinical trials. The eyeGENE® Network currently includes a Coordinating Center at the NEI, CLIA†-approved molecular genetic testing laboratories around the Nation, a patient registry, controlled-access centralized biorepository for DNA, and a curated de-identified genotype / phenotype database. These components stimulate patient and eye health care provider interest in genetics-based clinical care and generate involvement in ophthalmic research, thereby accelerating vision research and treatment development for these diseases.
Organism(s) coveredNCBI Taxonomy names and IDs covered by the database Homo sapiens (9606)
Tag - TargetTag to indicate targets for this database such as genome and protein
Genome/Gene
cDNA/EST
Genetic variation
Epigenetics
DNA
RNA
Protein
Carbohydrate
Lipid
Metabolite
Chemical compound
Drug
Cell/Organelle
Organism
Health/Disease
Tag - Information typeTag to indicate information types for this database such as sequence and structure
Phenotype
Bioresource
Method
Ontology/Terminology/Nomenclature
Environment
Sequence
3D structure
Chemical structure
Expression
Localization
Geographic Distribution
Interaction/Pathway
Taxonomy
Classification
Image/Movie
Bibliography/Documents
Portal
Repository
Reference(s) - PubMed ID/DOIPubMed IDs/DOI for papers related to the database
Language(s)Languages in which the contents of the database are displayed English
Operational statusOperational status for the database Active
Link(s) to Downloadable dataLinks to downloadable data
Link(s) to MetaData of downloadable dataLinks to metadata of downloadable data
Link(s) to Terms of useLinks to terms of use of downloadable data
Link(s) to "How to use"
Contact information of database
Link(s) to API / SPARQL endpoint
Link to LSDB ArchiveLink to LSDB Archive
Link to MEDALS Database listLink to MEDALS Database list
Link to TogoTVLink to TogoTV
Link to FAIRsharingLink to FAIRsharing https://fairsharing.org/10.25504/FAIRsharing.5nnxqn
Similar databasesDatabases that are similar to this database.
Record maintainerRecord maintainer See the corresponding part in the FAIRsharing record
Record sourceOrganization that originally created the record
Date of creation of this recordDate of creation of this English record 2019-03-28
Last update date of this recordLast update date of this English record 2024-07-28
Record license Creative Commons Attribution and Share-alike (CC-BY-SA) International 4.0 license