• DISGENET v25.4: What’s New?

    Turning complex biomedical evidence into actionable insights should feel intuitive — not overwhelming. With DISGENET v25.4, we focused on features that make your daily workflows more customizable, more reproducible, and easier to share, without sacrificing depth, evidence quality, or analytical power. DISGENET v25.4 includes: My Score: Your Evidence, Your Ranking Different use cases require different […]

  • Turning IBD Proteins into Biomarkers and Therapeutic Opportunities

    Inflammatory Bowel Disease (IBD), which includes Crohn’s disease and Ulcerative Colitis, affects millions of people worldwide. Although these conditions differ in the part of the digestive tract they affect, they share common features—chronic inflammation, immune dysregulation, and disruption of the gut barrier. Understanding the proteins driving these processes is essential for developing more specific and […]

  • DISGENET GDA and VDA Scores Explained — With Examples

    The biggest challenge in genomic research isn’t just identifying genes or variants associated to a disease—it’s determining which ones are robust enough to guide drug target decisions, reduce risk in discovery, and maximize precision medicine outcomes. That’s where the DISGENET Score becomes indispensable. For anyone new to the platform, the DISGENET Score (available as GDA […]

  • DISGENET integration in HelixAI agentic R&D platform

    DISGENET Partners with HelixAI on New Agentic R&D Platform

    HelixAI has officially launched its new agentic operating system for life sciences R&D. DISGENET is pleased to be a featured knowledge partner integrated into this platform. Below is the full HelixAI press release. PRESS RELEASE HelixAI launches a new agentic operating system to bring the power of autonomous AI to life sciences Fort Lauderdale, Florida, […]

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    Mapping the Genes Behind Epilepsy: How DISGENET Bridges Clinical Panels and Discovery

    Epilepsy affects more than 65 million people worldwide. Genetics plays a key role in understanding and managing the disorder, and genetic testing has become a powerful diagnostic tool — studies show that up to 75% of patients experience improved outcomes after receiving a genetic diagnosis. For clinical genomics and R&D teams, the issue isn’t a […]

  • ADHD Genetics: Links to other disorders in DISGENET

    Understanding ADHD Genetics and Its Links to Other Disorders

    October is ADHD Awareness Month — an opportunity to look beyond observable symptoms and explore the molecular architecture behind the condition. ADHD affects roughly 350 million people worldwide, with an estimated heritability of 70–80% in childhood, among the highest of any psychiatric disorder. Yet it rarely occurs in isolation. Studies into ADHD genetics reveal that […]

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    DISGENET v25.3: What’s New?

    Turning gene and variant data into actionable insights for drug discovery, target prioritization, and clinical genomics just got faster and easier with DISGENET v25.3. DISGENET version 25.2 includes: Clinically-Validated Data You Can Rely On Two New Curated Data Sources DISGENET already brings together an enormous collection of gene–disease and variant–disease associations—from expert curated resources, biobanks, […]

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    DISGENET v25.2: What’s New?

    DISGENET v25.2 brings enhanced clinical and molecular annotations designed to advance variant interpretation, disease modeling, and drug discovery workflows through more granular, actionable data. Built for Biotech, Pharma, Translational R&D, and Clinical Genomics, v25.2 enables you to filter, score, and prioritize gene- and variant-disease associations with even deeper contextual data. DISGENET version 25.2 includes: Smarter […]

  • Harmonizing UK Biobank GWAS Data with DISGENET: Mapping Phecodes to UMLS CUIs

    UK Biobank data is an invaluable resource for genetic research, containing genetic, lifestyle, and health information from half a million individuals. To leverage this wealth of data, DISGENET v25.1 features the integration of a dataset that provides genome-wide associations for Electronic Health Record (EHR)-derived phenotypes from White British participants in the UK Biobank (data available at PheWeb UKB-TOPMed). […]

  • DISGENET v25.1: What’s New?

    Discover our biggest data expansion to date with DISGENET v25.1—your platform for deeper, more actionable disease-genomics insights to accelerate research and advance precision medicine. DISGENET version 25.1 includes: A Data Revolution to Power Your Discoveries In our latest release, we’re not just expanding the breadth of our data—we’re enhancing its depth to empower your research […]