DisGeNET is a discovery platform containing one of the largest publicly available collections of genes and variants associated to human diseases. 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.
re3data.org: DisGeNET;
editing status 2024-05-14;
re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R31NJMR9
last accessed: 2025-04-26