HUMAN MUTATION DATABASE IN BRIEF HUMAN MUTATION Database in Brief 33: E2332-E2340 (2012) Online © 2012 WILEY PERIODICALS, INC. DOI: 10.1002/humu.22039 Received 8 September 2011; accepted revised manuscript 8 January 2012. KMD: Korean Mutation Database for Genes Related to Diseases Mi-Hyun Park 1† , Soo Kyung Koo 1† , Jin-Sung Lee 2 , Han-Wook Yoo 3 , Jong-Won Kim 4 , Hae Il Cheong 5 , and Hyun-Young Park 1* 1 Center for Biomedical Sciences, National Institute of Health, Cheongwon-gun, Korea; 2 Yonsei University College of Medicine, Seoul, Korea; 3 University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea; 4 Sungkyunkwan University School of Medicine, Seoul, Korea; 5 Seoul National University Children's Hospital, Seoul, Korea *Correspondence to Hyun-Young Park, MD, PhD, Division of Cardiovascular and Rare Diseases, Center for Biomedical Sciences, National Institute of Health, Cheongwon-gun, Korea; Tel: +82-43-719-8650; Fax: +82-43-719-8689; E-mail address: hypark65@nih.go.kr † These authors contributed equally to this work. Contract grant sponsor and grant number: The Korea National Institute of Health intramural research 4800-4845-300-210 (2008-E63010-00, 2010-E63004-00, and 2010-E63006-00); the Korean Healthcare Technology R&D project (A080588). Communicated by Richard G.H. Cotton ABSTRACT: The number of known disease-causing mutations has increased dramatically. However, there have been few organized mutation databases developed that are available to the public or not- for-profit entities. Thus, clinicians and diagnostic laboratories had to spend time searching many publications and databases to determine whether a mutation has been previously reported. To assist in genetic diagnoses, the systematic collection and curation of mutations is necessary. The Korean Mutation Database (KMD, http://kmd.cdc.go.kr) is a country-specific database of human gene mutations that was established in September, 2009. The KMD is a database consolidating mutations of genes related to diseases in Korea; it now contains more than 1,600 mutations from 245 genes. We collected mutation data from diagnostic laboratories and published journals over recent decades in Korea. KMD has been open to the public for searches and registration of mutation data without charge. Our aim is to provide organized information for clinicians and researchers who are interested in genetic diseases. It will be useful not only for researchers in Korea but also for those in countries with similar ethnic backgrounds. Ultimately, KMD will be an essential base to improve researches in genetic diseases, developments of diagnostics, and therapeutic optimization. ©2012 Wiley Periodicals, Inc. KEY WORDS: Database, Korean, Country-specific collection OFFICIAL JOURNAL www.hgvs.org