Clinically Relevant Information in OMIM |
| Sample User Question |
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What clinically relevant information is provided for cystic fibrosis? What is the gene function?
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| Analysis/Comments |
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While OMIM is a catalog of genes and genetic disorders predominantly for researchers, its utility for clinicians should not be overlooked.
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| Step By Step Guide |
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OMIM: Clinically Relevant Information
- Enter cystic fibrosis[title] in the search box and click on the Go button
- #219700 Cystic Fibrosis CF is the relevant record in the retrieval set
- This record includes paragraphs on description, clinical features, inheritance, pathogenesis, diagnosis and clinical management that have relevance for the clinician
- Each paragraph also includes the appropriate bibliographic citation from the MEDLINE database (click on the lightbulb to retrieve the PubMed set)
- A clinical synopsis presenting data on organ involvement and laboratory abnormalities is also given
OMIM: gene function
- See record #219700 presented above
- In the Clinical Synopsis section, the Molecular Basis states that Cystic Fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR, 602421)
- A link is provided to the OMIM record 602421 on CFTR, if further explanation is desired
- In record 602421, note the Gene Function option in the left hand side bar
- Click on the Gene Function link
- Concise descriptive paragraphs of the gene function are given
- Click on the lightbulb after each paragraph to retrieve a relevant set of articles from PubMed
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| Additional Notes |
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Go to GeneReviews in the GeneClinics resource to compare the Cystic Fibrosis clinical summary with that provided here in OMIM.
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