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. Developed by the Integrative Biomedical Informatics group, the current version (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.

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