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Human Gene Mutation Database (HGMD) – featured resource!

Wednesday, January 3rd, 2018

Need to collect the literature and data on a specific human mutation at a specific amino acid position? Need to collect the literature on what disease a specific mutation will cause?  Need a list of published journal articles on what diseases are associated with mutations in a particular gene? Or with a gene’s promoter? Clinicians, need to locate the information on all the mutations associated with a specific phenotype or vice versa? Or collect all mutations associated with disease at a particular chromosomal position or translocation?

The Human Gene Mutation Database manually curates from the peer-reviewed published literature nuclear gene lesions responsible for causing human inherited disease along with any associated polymorphisms.    As of March 2017, there are over 203,855 mutations cataloged in HGMD.  Established in 1996, HGMD is updated quarterly. An average of 15,000 new mutation entries from the published literature have been added each year for the past six years.

HGMD is UB ONLY – users must authenticate using a UBIT name and password, through the UB Libraries website. Contact Diane Rein, Bioinformatics & Molecular Biology Information Resources Liaison, 829-5749 for more information.