DisGeNET is a discovery platform integrating information on gene-disease associations from several public data sources and the literature. Developed by the Integrative Biomedical Informatics group, the current version of DisGeNET (v5.0) contains 561,119 gene-disease associations (GDAs), between 17,074 genes and 20,370 diseases, disorders, traits, and clinical or abnormal human phenotypes, and 135,588 variant-disease associations (VDAs), between 83,002 SNPs and 9,169 diseases and phenotypes.
DisGeNET website
