The Human Gene Mutation Database (HGMD) represents an up-to-date and comprehensive collection of known and published pathogenic gene lesions responsible for human inherited disease.
HGMD is a database which provides information of practical importance to medical and clinical geneticists, diagnosticians, bioinformaticians, researchers in human and molecular genetics, and physicians and genetic counselors interested in a particular inherited condition in a given patient or family. HGMD is a widely used, trusted resource that has been cited in over 5000 publications in leading scientific journals.
Key Capabilities