McKusick's Online Mendelian Inheritance in Man (OMIM®)

被引：524

作者：

Amberger, Joanna ^{[1
]}

Bocchini, Carol A. ^{[1
]}

Scott, Alan F. ^{[1
]}

Hamosh, Ada ^{[1
]}

机构：

[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA

来源：

NUCLEIC ACIDS RESEARCH | 2009年 / 37卷

关键词：

D O I：

10.1093/nar/gkn665

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

McKusick's Online Mendelian Inheritance in Man (OMIM (R); http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily. It currently contains 18 961 full-text entries describing phenotypes and genes. To date, 2239 genes have mutations causing disease, and 3770 diseases have a molecular basis. Approximately 70 new entries are added and 700 entries are updated per month. OMIM (R) is expanding content and organization in response to shifting biological paradigms and advancing biotechnology.

引用

页码：D793 / D796

页数：4