DisGeNET is a discovery platform containing one of the largest publicly available collections of genes and variants associated to human diseases (Piñero et al., 2016; Piñero et al., 2015). DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature. DisGeNET 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 current version of DisGeNET (v5.0) contains 561,119 gene-disease associations (GDAs), between 17,074 genes and 20,370 diseases, disorders, traits, and clinical or abnormal human phenotypes, and 135,588 variant-disease associations (VDAs), between 83,002 SNPs and 9,169 diseases and phenotypes.

The information in DisGeNET can be accessed in several ways:

- The web interface, through the Search and Browse functionalities
- The Resource Description Framework (DisGeNET-RDF) representation via the SPARQL endpoint, and the Faceted Browser
- The DisGeNET Cytoscape App
- Scripts in the most commonly used programming languages
- The disgenet2r package.
- The SQLite database
- Tab separated files. See downloads section

DisGeNET is a versatile platform that can be used for different research purposes including the investigation of the molecular underpinnings of human diseases and their comorbidities, the analysis of the properties of disease genes, the generation of hypothesis on drug therapeutic action and drug adverse effects, the validation of computationally predicted disease genes and the evaluation of text-mining methods performance.

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