DisGeNET is a comprehensive platform that integrates information on human disease-associated genes and variants. It provides a centralized repository of gene-disease associations, variant-disease associations, and related data from multiple sources, including expert-curated databases, GWAS catalogs, animal models, and scientific literature. The platform uses controlled vocabularies and community-driven ontologies to ensure data homogeneity and interoperability. DisGeNET offers various tools for data access, including a web interface, a Cytoscape App, an RDF SPARQL endpoint, scripts in multiple programming languages, and an R package. The data are available in multiple formats and can be used for a wide range of research purposes, including investigating the molecular basis of diseases, analyzing disease gene properties, generating hypotheses on drug therapeutic actions, validating computationally predicted disease genes, and evaluating text-mining methods. DisGeNET 4.0 includes 429,036 gene-disease associations (GDAs) linking 17,381 genes to 15,093 diseases, and 72,870 variant-disease associations (VDAs) between 46,589 SNPs and 6,356 diseases and phenotypes. The platform provides metrics such as the Disease Specificity Index (DSI) and Disease Pleiotropy Index (DPI) to prioritize genotype-phenotype relationships. DisGeNET also includes a DisGeNET score to reflect the confidence in GDAs. The platform supports flexible data access through various methods, including programmatic access, semantic web technologies, and integration with other biological databases. DisGeNET is a versatile resource that supports translational research by providing a comprehensive and integrated view of the genetic basis of human diseases. It is regularly updated with new data sources and research findings, and it is widely used by the scientific community for various biomedical applications. The platform is designed to facilitate the exploration of the genetic underpinnings of diseases, including their comorbidities, and to support the development of new therapeutic strategies. DisGeNET is an essential tool for researchers in the field of biomedical informatics and genomics.DisGeNET is a comprehensive platform that integrates information on human disease-associated genes and variants. It provides a centralized repository of gene-disease associations, variant-disease associations, and related data from multiple sources, including expert-curated databases, GWAS catalogs, animal models, and scientific literature. The platform uses controlled vocabularies and community-driven ontologies to ensure data homogeneity and interoperability. DisGeNET offers various tools for data access, including a web interface, a Cytoscape App, an RDF SPARQL endpoint, scripts in multiple programming languages, and an R package. The data are available in multiple formats and can be used for a wide range of research purposes, including investigating the molecular basis of diseases, analyzing disease gene properties, generating hypotheses on drug therapeutic actions, validating computationally predicted disease genes, and evaluating text-mining methods. DisGeNET 4.0 includes 429,036 gene-disease associations (GDAs) linking 17,381 genes to 15,093 diseases, and 72,870 variant-disease associations (VDAs) between 46,589 SNPs and 6,356 diseases and phenotypes. The platform provides metrics such as the Disease Specificity Index (DSI) and Disease Pleiotropy Index (DPI) to prioritize genotype-phenotype relationships. DisGeNET also includes a DisGeNET score to reflect the confidence in GDAs. The platform supports flexible data access through various methods, including programmatic access, semantic web technologies, and integration with other biological databases. DisGeNET is a versatile resource that supports translational research by providing a comprehensive and integrated view of the genetic basis of human diseases. It is regularly updated with new data sources and research findings, and it is widely used by the scientific community for various biomedical applications. The platform is designed to facilitate the exploration of the genetic underpinnings of diseases, including their comorbidities, and to support the development of new therapeutic strategies. DisGeNET is an essential tool for researchers in the field of biomedical informatics and genomics.