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DisGeNET

IDNBDC common database IDs, which should be written in parentheses if there are multiple titles, such as Japanese and English. NBDC01929
Database nameName of the database DisGeNET
Alternative nameAlternative name of the database ―
URLURL of the database http://www.disgenet.org
Database maintenance siteSite maintaining the database IBI (Integrative Biomedical Informatics Group, Research Programme on Biomedical Informatics (GRIB) IMIM-UPF)
Country/RegionCountry or region name where the database maintenance site is located Spain
Database descriptionDatabase descirption DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific literature, and covers the whole landscape of human diseases. The current version (v4.0) contains 429,036 associations, between 17,381 genes and 15,093 diseases, disorders and clinical or abnormal human phenotypes, and 72,870 variant-disease associations between 46,589 SNPs and 6,356 diseases and phenotypes. The data are homogeneously annotated with controlled vocabularies and community-driven ontologies. Additionally, several original metrics are provided to assist the prioritization of genotype-phenotype relationships. The information is accessible through a web interface, a Cytoscape App, an RDF SPARQL endpoint, scripts in several programming languages, and an R package.
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
PubMed ID:20861032
DOI:-
PubMed ID:21695124
DOI:-
PubMed ID:25877637
DOI:-
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 https://www.disgenet.org/downloads
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 https://www.disgenet.org/legal
Link(s) to "How to use" https://www.disgenet.org/help
Contact information of database https://www.disgenet.org/contact
Link(s) to API / SPARQL endpoint https://www.disgenet.org/api/
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.fssydn
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