Databases > biodbcore-000618

ready DisGeNET: a database of gene-disease associations

Abbreviation:DisGeNET

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.



This record is maintained by disgenet  ORCID

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


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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 Bioinform��tica)

  • PI13/00082 (Spanish Instituto de Salud Carlos III Instituto Nacional de Bioinform��tica)


Publications

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 Paper (DOI)

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 Paper (DOI)

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 Paper (DOI)