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DisGeNET

DisGeNET

A database for gene-disease associations (GDAs). It was originally released on September 21st, 2010 and has had updated versions released. 

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.

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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. 

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DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

Janet Piñero et al.





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