Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes

Joanna S. Amberger1, Ada Hamosh1

1 McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
Publication Name:  Current Protocols in Bioinformatics
Unit Number:  Unit 1.2
DOI:  10.1002/cpbi.27
Online Posting Date:  June, 2017
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Abstract

Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases, providing easy access to more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit. The basic protocol explains searching OMIM both from a gene perspective and a clinical features perspective. Two alternate protocols provide strategies for viewing gene‐phenotype relationships: a gene map table and Quick View or Side‐by‐Side format for clinical features. OMIM.org is updated nightly, and the MIMmatch service, described in the support protocol, provides a convenient way to follow updates to entries, gene‐phenotype relationships, and collaborate with other researchers. © 2017 by John Wiley & Sons, Inc.

Keywords: disease gene discovery; human genetic disorders; molecular genetics; OMIM

     
 
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Table of Contents

  • Introduction
  • Basic Protocol 1: Searching OMIM
  • Alternate Protocol 1: Searching OMIM'S Gene MAP
  • Alternate Protocol 2: Searching OMIM Clinical Synopses
  • Support Protocol 1: Registering for and Using MIMmatch
  • Commentary
  • Literature Cited
  • Figures
     
 
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Materials

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Figures

Videos

Literature Cited

 
  McKusick, V. A. (1998). Online mendelian inheritance in man: A catalog of human genes and genetic disorders (12th Edn.). Baltimore, MD: Johns Hopkins University Press.
Key References
  Amberger, J., Bocchini, C. A., & Hamosh, A. (2011). A new face and new challenges for Online Mendelian Inheritance in Man (OMIM). Human Mutation, 32, 564–567.
  Descriptive overview of OMIM content.
  Amberger, J. S., Bocchini, C. A., Schiettecatte, F., Scott, A. F., & Hamosh, A. (2015). OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Research, 43, D789–98.
  Description of phenotype nosology and gene‐phenotype ascertainment.
Internet Resources
  http://omim.org
  The OMIM Web site.
  http://omim.org/help/faq
  Frequently asked questions (FAQ) about OMIM.
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