通过将统一医学语言系统（UMLS）映射到《在线人类孟德尔遗传》（OMIM）等位基因变异字段，将疾病的临床词汇与基因相联系。
Linking the clinical vocabulary of diseases to the genes by mapping UMLS to OMIM allelic variant fields.
作者信息
Hishiki Teruyoshi, Tamada Issei
机构信息
Biological Information Research Center, AIST, Tokyo, Japan.
出版信息
AMIA Annu Symp Proc. 2007 Oct 11:976.
To link clinical vocabulary of diseases to gene entries in Online Mendelian Inheritance in Man (OMIM), we comprehensively matched diseases from Unified Medical Language System (UMLS) Metathesaurus to the OMIM text in Allelic Variant fields that describe relations between the mutations or polymorphisms of the genes and the phenotypes. Out of 1,786 genes having the field, 1,445 genes (80.9%) had matches with 2,417 types of diseases or disorders. The links are accessible at http://www.genelexpo.jp/diseases/.
为了将疾病的临床词汇与《人类孟德尔遗传在线》（OMIM）中的基因条目相链接，我们将统一医学语言系统（UMLS）元词表中的疾病与等位基因变异字段中的OMIM文本进行了全面匹配，该字段描述了基因的突变或多态性与表型之间的关系。在有该字段的1786个基因中，1445个基因（80.9%）与2417种疾病或病症相匹配。这些链接可在http://www.genelexpo.jp/diseases/上获取。
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