HGMD® - Human Gene Mutation Database

HGMD represents the only comprehensive collection of data available on germ-line mutations in nuclear genes underlying or associated with human inherited disease.

The database can be used to search for newly identified gene lesions to determine whether or not they are novel. It can also be searched on a gene-wise basis to obtain an overview of the known mutational spectrum for a given gene.

Additionally, it can be searched for other examples of a particular type of mutation in a specific location in order to garner evidence for the pathological authenticity of a given lesion. Example results from the HGMD Advanced Search feature are available.

HGMD currently includes information on the nature, location and sequence context of lesions in human nuclear genes and provides data on gene names and symbols, chromosomal locations and original literature references.

Integration with phenotypic, structural and mapping information has been made possible by the provision of links to a variety of web-based resources including OMIM, Entrez Gene and the Human Gene Nomenclature Committee.

Learn more about the benefits of an HGMD professional subscription.

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HGMD is a registered trademark of Cardiff University. It was founded by Profs. David N. Cooper and Michael Krawczak in 1996.