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

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

Figure 1.2.1

Diagram of OMIM content. Dashed lines indicate that not all genes have allelic variants; not all phenotypes are mapped; and mapped phenotypes are not necessarily part of a Phenotypic Series.

Figure 1.2.2

Search result page from a search of +potassium +channel at OMIM.org. Targeted links for entry 600937 are displayed by clicking the “Links” button below the entry title. The mouse-over explanation of the MIM number prefix (in this case “Gene description”) is also displayed.

Figure 1.2.3

Entry full view for 176260 displaying highlighted search terms, green entry change bar (left of description paragraph), and Reference Plus link.

Figure 1.2.4

Allelic variant table view showing dbSNP, ExAC, and ClinVar links

Figure 1.2.5

Full view of entry 600118 showing the ICD+ coding numbers, in-page view of the clinical synopsis, and MIMmatch information.

Figure 1.2.6

Phenotype Series for Warburg micro syndrome. The sort can be changed by clicking on the triangle links in the table headers. Explanation of the Inheritance and Phenotype mapping keys are available through a mouse-over pop-up.

Figure 1.2.7

OMIM Gene map with phenotype only view selected.

Figure 1.2.8

OMIM Gene map results from a genomic coordinate search, 18:23,234,12-43,221,000.

Figure 1.2.9

Clinical Synopsis Quick View with feature mouse over the anatomical headings to pop-up the features.

Figure 1.2.10

Clinical Synopsis Side-by-Side view with Elements of Morphology brachycephaly feature photo pop-up open.

Figure 1.2.11

MIMmatch options.