databases > DOI:10.25504/FAIRsharing.fssydn

ready DisGeNET: a database of gene-disease associations


General Information
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.


Countries that developed this resource Spain

Created in 2009

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How to cite this record DisGeNET; DisGeNET: a database of gene-disease associations; DOI:; Last edited: Jan. 8, 2019, 1:20 p.m.; Last accessed: May 22 2019 7:34 p.m.

Record updated: Oct. 13, 2016, 1:02 p.m. by disgenet.

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Applies to: Data use Applies to: Database software

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DisGeNET: a Cytoscape plugin to visualize, integrate, search and analyze gene–disease networks

Bauer-Mehren A, Rautschka M, Sanz F, Furlong LI.
Bioinformatics. 2010

View Paper (PubMed) View Publication

Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases

Bauer-Mehren A, Bundschus M, Rautschka M, Mayer MA, Sanz F, Furlong LI.
PLoS One 2011

View Paper (PubMed) View Publication

DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes

Piñero J, Queralt-Rosinach N, Bravo A, Deu-Pons J, Bauer-Mehren A, Baron M, Sanz F, Furlong LI
Database 2015

View Paper (PubMed) View Publication

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Grant Number(s)

  • 115002 (Innovative Medicines Initiative (IMI), Europe)

  • 115191 (Innovative Medicines Initiative (IMI), Europe)

  • CP10/00524 (Spanish Instituto de Salud Carlos III Instituto Nacional de Bioinformatica)

  • PI13/00082 (Spanish Instituto de Salud Carlos III Instituto Nacional de Bioinformatica)