HGMD is the
gold standard

HGMD® is the gold standard industry-leading resource for comprehensive data on published human inherited disease mutations, having been cited in more than 5,000 scientific publications. Whether searching for an overview of known mutations associated with a particular disease, looking for the likely causal mutation in a list of variants, or seeking to integrate mutation content into your custom NGS pipeline or data repository – HGMD is a comprehensive resource that can be adapted to a broad range of research applications.


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HGMD professional provides the most comprehensive database of human disease associations and is an invaluable resource in both clinical and research-grade genetics and genomics activities.

Dr. Ali Torkamani, Chief Science Officer at Cypher Genomics

Trust in the Gold Standard for Mutation Content


System requirements

HGMD Download

  • Windows system (Windows 7 recommended)
  • Linux system (Ubuntu 14.04 LTS recommended)
  • 1.5 GHz processor minimum, 2 GHz processor recommended
  • 2GB RAM minimum, 3GB RAM recommended
  • MySQL 5.x.x
  • At least 3GB free disk space
HGMD Online

  • Requires a browser with the Java plugin enabled


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