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Figure 1. Example search on OMIM.org

OMIM or, the Online Mendelian Inheritance in Man, is an online database of human genes, genetic disorders and traits that is under constant reconstruction as new information is discovered. OMIM focuses primarily on the molecular relationship between genetic variation and phenotypic expression. Every entry into OMIM is given a six-digit number to identify it these are called MIM Numbers. Numbers in the 10000’s, 20000’s and 60000’s identify autosomal loci or phenotypes, while numbers in the 40000’s indicate Y-linked loci or phenotypes and so on and so forth. The Symbols preceding MIM Numbers indicate what kind of entry it is. An asterisk (*) denotes a gene, while a percent sign (%) indicates that entry is a confirmed mendelian phenotype or phenotypic locus whos molecular basis is not known. Various other symbols code for different entry types.

Mutations are archived in the Allelic Variants section of OMIM. Only selected mutations are added however, most often picked are disease-causing mutations. The OMIM Gene Map and Morbid Map shows where genes and disorders are located cytogenetically. It can be searched by gene symbol, chromosomal location or disorder keyword. Brackets, braces, question marks and numbers 1-4 in brackets are used to add further classifications to entries such as identifying it as a “nondisease” or indicating that it is a mutation leading to susceptibility to infection.

OMIM is funded by a grant from the National Human Genome Research Institute. It was originally started by a grant from the Maryland Department of Health and Mental Hygiene and was supported by John Hopkins Medicine. OMIM.org is an extremely versatile online database that can be viewed using Firefox 2.0+, Google Chrome and Internet Explorer 7.0+ on Microsoft Windows, as well as Firefox 2.0+, Google Chrome, Safari 4.0+ on Mac OS X and Firefox 2.0+ on Linux.

One interesting feature of OMIM is its Phenotypic Series. This is a charted collection of genetic dissimilarities of similar phenotypes across the genome. Another useful feature OMIM offers is MIMMatch. By creating a MIMMatch account, you will be able to follow OMIM entries that interest you and connect with others who share the same interest. In addition, you will receive alerts in regards to updates in your genes and diseases of interest. OMIM is a truly fascinating and useful database that provides accessible knowledge to anyone interested in mendelian inheritance or genetics as a whole.

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Figure 2. Example of Phenotypic Series

References Edit

Indstitute of Genetic Medicine, J. H. M., National Human Genome Research Institute. (2014). OMIM: Online Mendelin Inheritance in Man: An Online Catalog of Human Genes and Genetic Disorders from http://omim.org