DisGeNET is a platform on which users and researchers can ask questions about how genetics impact human disease. It gets its resources from curated repositories, genome-wide association study catalogs, animal models, and scientific literature. It also uses text-mining approaches through The Literature Human Gene Derived Network (LHGDN) and BeFree data.
The database can be accessed via website, mobile application, SQLite database, and more. The most recent version 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.There are also analysis tools that can be utilized in order to discover answers to questions about gene-disease associations. When using the application, users can adjust the parameters of their questions to create different types of networks to categorize their findings.
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants
Janet Piñero et al.