With more than 400 000 genotype-phenotype relationships from different origins integrated and annotated with explicit provenance and evidence information, DisGeNET is a valuable knowledge and evidence-based discovery resource for Translational Research.
These valuable set of tools allows investigating the molecular mechanisms underlying diseases of genetic origin,[3] and are designed to support the data exploitation from different perspectives and to fulfill the needs of different types of users, including bioinformaticians, biologists and healthcare practitioners.
It assists the user in the interpretation and exploration of human complex diseases with respect to their genetic origin by a variety of built-in functions.
Using the DisGeNET Cytoscape plugin you can perform queries restricted to (i) the original data source, (ii) the association type, (iii) the disorder class of interest and (iv) specific diseases or genes.
The RDF and Nanopublication distributions of DisGeNET have been developed in the context of the Open PHACTS project to provide disease relevant information to the knowledge base on pharmacological data.