OMIM Summary

This database is a catalogue of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information and references. It also contains numerous links to MEDLINE and sequence records in the Entrez system, and links to additional related resources at NCBI and elsewhere.

Each OMIM entry has a full text summary of a genetic phenotype and/or gene and has links to other genetic resources such as DNA and protein sequence, PubMed references, mutation databases, approved gene nomenclature, and more. In addition, NCBI’s neighbouring feature allows users to identify related articles from PubMed selected on the basis of key words in the OMIM entry. Through its many features, OMIM is increasingly becoming a major gateway for clinicians, students, and basic researchers to the ever-growing literature and resources of human genetics.

OMIM can be searched via filed tags such as title, OMIM number, allelic variants, text, references, clinical synopsis, gene map disorder, contributors, chromosome, creation or modification dates. Options to limit within these last2, together with other limiting options result in a more precise search.

Results return a page of text dedicated to a particular gene, with sections on gene cloning, structure function and mapping, molecular genetics, population genetics, animal models, allelic variants and a list of references.

Return to Table 1.

  Related websites: Main HuGENet site | Greece Coordinating Centre | Canada Coordinating Centre