DisGeNET: a database of gene-disease associations
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| Alternative name: | - |
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| Database maintenance site: | IBI (Integrative Biomedical Informatics Group, Research Programme on Biomedical Informatics (GRIB) IMIM-UPF) |
| Country/Region: | Spain |
| Database description: | 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) covered: | |
| Tag - Target: | Genetic variation, Health/Disease, Genome/Gene |
| Tag - Information type: | Phenotype, Sequence |
| Reference(s) - PubMed ID/DOI: | PubMed ID: DOI: PubMed ID: DOI: PubMed ID: DOI: |
| Language(s): | English |
| Operational status: | Active |
| Link(s) to Downloadable data: | https://www.disgenet.org/downloads |
| Link(s) to Metadata of downloadable data: | - |
| Link(s) to Terms of use: | 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/ |
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Link to LSDB Archive:
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Link to MEDALS Database list:
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Link to TogoTV:
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Link to FAIRsharing:
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https://fairsharing.org/10.25504/FAIRsharing.fssydn |
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Similar databases:
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PhenoModifier PheWeb.jp CancerSplicingQTL DBASS Infevers openSNP SNPeffect GWASdb DPV |
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Record maintainer
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See the corresponding part in the FAIRsharing record. |
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Record source:
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 (2018-12-21)
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Date of creation of this record:
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2019-03-28 |
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Last update date of this record:
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2021-03-02 |
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Record license:
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Creative Commons Attribution and Share-alike (CC-BY-SA) International 4.0 license |