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OMIM

OMIM. Dr Maha Al- Sulaimani Department of Biochemistry. What is OMIM?. OMIM: Online Mendelian Inheritance in Man.

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OMIM

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  1. OMIM Dr Maha Al-Sulaimani Department of Biochemistry

  2. What is OMIM? • OMIM: Online Mendelian Inheritance in Man. • A large, searchable, current database of human genes, genetic traits, and hereditary disorders available from the National Center for Biotechnology Information (NCBI) Web site.

  3. OMIM • Is a continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression. • It is thus considered to be a phenotypic companion to the Human Genome Project.

  4. OMIM • OMIM is a continuation of Dr. Victor A. McKusick'sMendelian Inheritance in Man, which was published through 12 editions, the last in 1998. • OMIM is currently biocurated at the McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine. • Biocuration is the activity of organizing, representing and making biological information accessible to both humans and computers.

  5. OMIM Entry Numbering • Each OMIM entry is given a unique six-digit number as summarized below: • 1----- (100000- ) 2----- (200000- ) Autosomal loci or phenotypes (entries created before May 15, 1994) • 3----- (300000- ) X-linked loci or phenotypes • 4----- (400000- ) Y-linked loci or phenotypes • 5----- (500000- ) Mitochondrial loci or phenotypes • 6----- (600000- ) Autosomal loci or phenotypes (entries created after May 15, 1994).

  6. Allelic variants • Allelic variants are designated by the MIM number of the entry, followed by a decimal point and a unique 4-digit variant number. • For example, allelic variants in the factor IX gene (300746) are numbered 300746.0001 through 300746.0101.

  7. How are mutations cataloged in OMIM? • Mutations are cataloged in OMIM in the Allelic Variants section of gene entries. • For most genes, only selected mutations are included. Criteria for inclusion include the first mutation to be discovered, high population frequency, distinctive phenotype, historic significance, unusual mechanism of mutation, unusual pathogenetic mechanism, and distinctive inheritance (e.g., dominant with some mutations, recessive with other mutations in the same gene).

  8. How are mutations cataloged in OMIM? • Most of the allelic variants represent disease-causing mutations. • A few polymorphisms are included, many of which show a positive correlation with particular common disorders.

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