Plugin: Human Gene Mutation Database

The Human Gene Mutation Database (HGMD) represents an attempt to collate known (published) gene lesions responsible for human inherited disease. This database, whilst originally established for the study of mutational mechanisms in human genes (Cooper and Krawczak 1993), has now acquired a much broader utility in that it embodies an up-to-date and comprehensive reference source to the spectrum of inherited human gene lesions. Thus, HGMD provides information of practical diagnostic importance to (i) researchers and diagnosticians in human molecular genetics, (ii) physicians interested in a particular inherited condition in a given patient or family, and (iii) genetic counsellors.

Species:

human

URL Template:

http://www.hgmd.cf.ac.uk/ac/gene.php?gene={{Symbol}}

Updated:

Jan. 25, 2012

Registered:

March 27, 2009