One of the most challenging problems in biomedical research is to understand the underlying mechanisms of complex diseases. Great effort has been spent on finding the genes associated to diseases (Botstein and Risch, 2003 ; Kann, 2009). However, more and more evidences indicate that most human diseases cannot be attributed to a single gene but arise due to complex interactions among multiple genetic variants and environmental risk factors (Hirschhorn and Daly, 2005). Several databases have been developed storing associations between genes and diseases such as CTDTM (Davis, et al., 2014), OMIM® (Hamosh et al.,2005) and GAD (Becker et al., 2004). Each of these databases focuses on different aspects of the phenotype-genotype relationship, and due to the nature of the database curation process, they are not complete. Hence, integration of different databases with information extracted from the literature is needed to allow a comprehensive view of the state of the art knowledge within this research field. With this need in mind, we have created DisGeNET.
DisGeNET is a discovery platform integrating information on gene-disease associations from several public data sources and the literature. The current version contains 381056 associations, between 16666 genes and 13172 diseases. Given the large number of gene-disease associations compiled in DisGeNET, we have also developed a score in order to rank the associations based on the supporting evidence. Importantly, useful tools have also been created to explore and analyze the data contained in DisGeNET. DisGeNET can be queried through Search and Browse functionalities available from this web interface, or by a plugin created for Cytoscape to query and analyze a network representation of the data. Moreover, DisGeNET data can be queried by downloading the SQLite database to your local repository. Furthermore, an RDF (Resource Description Framework) representation of DisGeNET database is also available. It can be queried using our SPARQL endpoint and a Faceted Browser. Follow the link for more information.
DisGeNET database has been cited by several papers. Some of them can be reviewed here.
The DisGeNET database is made available under the Open Database License. Any rights in individual contents of the database are licensed under the Database Contents License.