Rsrc
J-GLOBAL ID:202010010472792136   Research Resource code:NBDC01929 Update date:Mar. 29, 2019

DisGeNET: a database of gene-disease associations: DisGeNET

DisGeNET: a database of gene-disease associations: DisGeNET
Owning Organization:
  • Integrative Biomedical Informatics Group (IBI), Research Programme on Biomedical Informatics (GRIB) IMIM-UPF
Resource classification: Database
Tag (subject)  (3): Genetic variation ,  Health/Disease ,  Genome/Gene
Tag (data type)  (1): Sequence
Species (1): Homo sapiens (NCBI Taxonomy ID: 9606)
Overview:
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 (v4.0) contains 429,036 associations, between 17,381 genes and 15,093 diseases, disorders and clinical or abnormal human phenotypes, and 72,870 variant-disease associations between 46,589 SNPs and 6,356 diseases 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, scripts in several programming languages, and an R package.
Source: FAIRsharing
Record maintainer: See the corresponding part in the FAIRsharing record
Record license: Creative Commons Attribution and Share-alike (CC-BY-SA) International 4.0 license

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