DisGeNET

DisGeNET is a comprehensive discovery platform that focuses on the genetic underpinning of human diseases by integrating gene-disease associations (GDAs). Maintained by the Integrative Biomedical Informatics Group at the Barcelona Biomedical Research Park, it is one of the largest repositories of GDAs, covering over 400,000 genotype-phenotype relationships across more than 17,000 genes and 14,000 diseases. These associations are sourced from expert-curated databases and text-mined data from MEDLINE using NLP-based approaches. DisGeNET provides explicit provenance and evidence information, categorizing GDAs as CURATED, PREDICTED, or LITERATURE, with scoring based on supporting evidence.

The platform offers various tools for data analysis, including a web interface, a Cytoscape plugin, linked data for the Semantic Web, and programmatic access. The DisGeNET Association Type Ontology, integrated into the SemanticScience Integrated Ontology (SIO), structures gene-disease associations, enabling seamless data integration. The Cytoscape plugin provides network representations of GDAs, allowing users to explore genetic origins of diseases through bipartite graphs and gene or disease-centric views.

DisGeNET is distributed as RDF and Nanopublications linked datasets, enhancing data integration and querying capabilities. It has contributed to projects like Open PHACTS and eTOX, linking pharmacological and toxicogenomic data. DisGeNET also connects to other resources such as UniProt and the Mouse Genome Database, supporting translational research for bioinformaticians, biologists, and healthcare practitioners.