About Human Genome Mutation Database (HGMD)

The Human Gene Mutation Database (HGMD) represents an up-to-date and comprehensive collection of known and published pathogenic gene lesions responsible for human inherited disease.

HGMD is a database which provides information of practical importance to medical and clinical geneticists, diagnosticians, bioinformaticians, researchers in human and molecular genetics, and physicians and genetic counselors interested in a particular inherited condition in a given patient or family. HGMD is a widely used, trusted resource that has been cited in over 5000 publications in leading scientific journals.

Key Capabilities

  • Easily verify whether an observed mutation has been previously described to be responsible for causing human inherited disease
  • Obtain an overview of the pathogenic mutational spectrum of a particular gene or disease
  • Quickly access detailed reports for disease-associated human inherited mutation

Registration & Access Info

Register here

  • Must have Pitt or UPMC email address
  • Web-based
  • Username/password required

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