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Linking the clinical vocabulary of diseases to the genes by mapping UMLS to OMIM allelic variant fields.

Teruyoshi Hishiki, Issei Tamada

Abstract

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/.

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Available abstract

Key concepts: Unified Medical Language System, OMIM : Online Mendelian Inheritance in Man, Gene, Inheritance (genetic algorithm), Vocabulary, Genetics, Allele, Mendelian inheritance