databases > DOI:10.25504/FAIRsharing.fssydn

ready DisGeNET: a knowledge base for disease genomics

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 of DisGeNET (v 6.0) contains 628,685 gene-disease associations (GDAs), between 17,549 genes and 24,166 diseases, disorders, traits, and clinical or abnormal human phenotypes, and 210,498 variant-disease associations (VDAs), between 117,337 variants and 10,358 diseases, traits, 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, a REST API, and an R package.

Homepage http://www.disgenet.org

Countries that developed this resource Spain

Created in 2009

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How to cite this record FAIRsharing.org: DisGeNET; DisGeNET: a knowledge base for disease genomics; DOI: https://doi.org/10.25504/FAIRsharing.fssydn; Last edited: June 5, 2019, 10 a.m.; Last accessed: Oct 20 2019 10:32 p.m.

Publication for citation  DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants Piñero J, Bravo À, Queralt-Rosinach N, Gutiérrez-Sacristán A, Deu-Pons J, Centeno E, García-García J, Sanz F, Furlong LI.; Nucleic Acid Research ; 2017; 10.1093/nar/gkw943;



Record updated: June 4, 2019, 5:11 p.m. by disgenet.

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Applies to: Data use Applies to: Database software


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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

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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

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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

DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

Piñero J, Bravo À, Queralt-Rosinach N, Gutiérrez-Sacristán A, Deu-Pons J, Centeno E, García-García J, Sanz F, Furlong LI.
Nucleic Acid Research 2017

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)