DisGeNET: a knowledge base for disease genomics

Other names: DisGeNET, A knowledge base for disease genomics, disgenet

DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific literature, and covers the whole landscape of human diseases. The current version of DisGeNET (v7.0) contains 1,134,942 gene-disease associations (GDAs), between 21,671 genes and 30,170 diseases, disorders, traits, and clinical or abnormal human phenotypes, and 369,554 variant-disease associations (VDAs), between 194,515 variants and 14,155 diseases, traits, and phenotypes. The data are homogeneously annotated with controlled vocabularies and community-driven ontologies. Additionally, several original metrics are provided to assist the prioritization of genotype-phenotype relationships. The information is accessible through a web interface, a Cytoscape App, an RDF SPARQL endpoint, a REST API, and an R package.


Name: Disgenet Open Database License
URL: http://www.disgenet.org/legal

Publications: (12)


disease gene polymorphism mutation human genes and diseases gene-, system- or disease-specific covid-19 molecular interactions, pathways and networks biomedical science genetic variation natural language processing ontology and terminology bioinformatics data integration and warehousing data identity and mapping translational medicine pathology genotype and phenotype medical informatics rare diseases

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