DisGeNET is a comprehensive platform that integrates information on human disease-associated genes and variants. It addresses the challenges of data fragmentation, heterogeneity, and limited accessibility by curating data from various sources, including expert-curated repositories, GWAS catalogues, animal models, and scientific literature. The platform provides homogeneous annotations using controlled vocabularies and ontologies, and offers several metrics to prioritize genotype-phenotype relationships. DisGeNET is accessible through a web interface, Cytoscape App, RDF SPARQL endpoint, programming scripts, and an R package. It supports a wide range of research purposes, such as investigating molecular underpinnings of diseases, analyzing disease genes, generating hypotheses on drug actions, validating predicted disease genes, and evaluating text-mining methods. DisGeNET aims to facilitate translational research by providing a centralized and integrated resource for studying the genetic basis of human diseases.DisGeNET is a comprehensive platform that integrates information on human disease-associated genes and variants. It addresses the challenges of data fragmentation, heterogeneity, and limited accessibility by curating data from various sources, including expert-curated repositories, GWAS catalogues, animal models, and scientific literature. The platform provides homogeneous annotations using controlled vocabularies and ontologies, and offers several metrics to prioritize genotype-phenotype relationships. DisGeNET is accessible through a web interface, Cytoscape App, RDF SPARQL endpoint, programming scripts, and an R package. It supports a wide range of research purposes, such as investigating molecular underpinnings of diseases, analyzing disease genes, generating hypotheses on drug actions, validating predicted disease genes, and evaluating text-mining methods. DisGeNET aims to facilitate translational research by providing a centralized and integrated resource for studying the genetic basis of human diseases.