title: The human gene mutation database.
abstract: The Human Gene Mutation Database (HGMD) represents a comprehensive core collection of data on published germline mutations in nuclear genes underlying human inherited disease. By September 1997, the database contained nearly 12 000 different lesions in a total of 636 different genes, with new entries currently accumulating at a rate of over 2000 per annum. Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has acquired a much broader utility to researchers, physicians and genetic counsellors so that it was made publicly available at http://uwcm.ac.uk/uwcm/mg/hgmd0.html in April 1996. Mutation data in HGMD are accessible on the basis of every gene being allocated one web page per mutation type, if data of that type are present. Meaningful integration with phenotypic, structural and mapping information has been accomplished through bi-directional links between HGMD and both the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM), Baltimore, USA. Hypertext links have also been established to Medline abstracts through Entrez , and to a collection of 458 reference cDNA sequences also used for data checking. Being both comprehensive and fully integrated into the existing bioinformatics structures relevant to human genetics, HGMD has established itself as the central core database of inherited human gene mutations.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK. cooperdn@cardiff.ac.uk
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
authors.forename: E V
authors.initials: EV
authors.lastname: Ball
authors.forename: M
authors.initials: M
authors.lastname: Krawczak
mesh_terms: D003195:Computer Communication Networks; D016208:Databases, Factual; D030342:Genetic Diseases, Inborn / Q000235:genetics; D005826:Genetics, Medical; D015894:Genome, Human; D018095:Germ-Line Mutation; D006801:Humans