DisGeNET is a a public knowledge management platform on the genomics of disease that offers information on genes and genomic variants associated with human diseases, which is obtained by integrating more than a dozen public resources and the scientific literature. DisGeNET contains one of the most comprehensive collections of genes and variants associated with human diseases that is currently available. Developed by the Integrative Biomedical Informatics group, the current version (6.0) contains approximately 600,000 associations between more than 17,000 genes and 24,000 human diseases, focusing particularly on genetic alterations associated with disease: this version includes more than 117,000 genomic variants associated with 10,000 diseases. In addition, the phenotypic landscape covered by DisGeNET has been expanded to include the genomic basis of clinical manifestations of diseases, both signs and symptoms, as well as laboratory tests results.

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