HGMD Professional

HGMD® Professional is a unique resource providing comprehensive data on human inherited disease mutations to genetics and genomic research. It allows you to: 

  • Prioritize mutations from whole exome or whole genome sequencing.
  • Uncover the impact of your human variants on disease risk, gene regulation, and protein function.
  • Remove biologically irrelevant mutations and reduce the amount of mutations you have to investigate.
  • Identify novel mutations not previously reported in the literature.
  • Understand gene regulation changes in your variants by mapping novel mutations to known or predicted regulatory sites.
  • Find disease genes, drug targets, and pathways linked to your variations.

Register for HGMD 

  • You must register to login to HGMD
  • To request a login use Ask Librarian or email Jeremy Kupsco, jkupsco@emory.edu.
  • Logins are for use by Emory Employees only.
  • Please log off at the end of each session to prevent blocking other users access.

To log into HGMD click here