The Human Gene Mutation Database (HGMD), from BIOBASE and the Institute of Medical Genetics in Cardiff, represents an attempt to collate known (published) gene lesions responsible for human inherited disease. It provides information of practical diagnostic importance to:

  • researchers and diagnosticians in human molecular genetics
  • physicians interested in a particular inherited condition in a given patient or family
  • genetic counselors

Access

Access is available only through on-campus computers.

Noteworthy Features

  • Comprises various types of mutation within the coding regions, splicing, and regulatory regions of human nuclear genes causing inherited disease.
  • Includes disease-associated polymorphisms.
  • Contains over 85K mutation entries.
  • The Gene Ontology Project's ontology terms are integrated into HGMD professional.

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