How to: Find genes associated with a phenotype or disease

Starting with...

Gene

  1. Search Gene using the name of a phenotype or a disorder or the name of a gene.
  2. Display the complete record by clicking on the Gene Symbol hyperlink.
  3. Navigate to the Phenotype section by clicking on "Phenotypes" in the Table of Contents at the top-right side of the page.
  4. Review the data and follow links to available GeneReviews, OMIM records, MedGen or PheGenI entries for more detailed information.

MedGen

  1. MedGen using the name of a phenotype or a disorder, or the name of a gene.
    • If you enter a valid gene symbol, a link will display that makes it easier to process a query to find all records in MedGen that report a relationship to that gene. Example: See fgfr3 in MedGen
  2. Display the complete record by clicking on the record name that is hyperlinked.
  3. The gene or genes related to this record are reported in the top section, as gene symbols that link to NCBI's Gene database.
  4. Review the data and follow links to available GeneReviews, OMIM records, citations, or other linked entries in the Related information section for more detailed information.

Genetic Testing Registry (GTR)

  1. Search GTR by typing the name of a phenotype or disorder into the text box on the GTR Conditions tab. Select a term using the autocomplete list, if available.
  2. Click on the name of a phenotype or disorder of interest.
    • To help narrow down the results list, you can refine your search by making selections in the left-hand column to display records which have links to 'OMIM available', 'GeneReviews available', and/or 'GTR Tests available'.
  3. On the record page describing the phenotype or condition, scroll down to view the 'Associated genes' section. Symbols for genes that have been identified as being associated with this particular phenotype or condition are listed.
    • Clicking on the gene symbol opens a page displaying information about the gene with a list of other associated phenotypes or conditions.
  4. Scan the 'Molecular resources' section in the right-hand column for links to additional information in OMIM, RefSeqGene and the Variation viewer, as well as at the Coriell Institute for Medical Research.

PheGenI

  1. Search PheGenI in the Phenotype Selection section by selecting a Category or Trait name and pressing the "Search" button.
    • If you select the Category first, the list of Traits from which to select will be limited to those in that particular MeSH Category.
  2. In the Search Results section, click on the word "Genes" to automatically scroll down to a table listing the genes associated with the phenotype selection. Click on a Location link to see an interactive graphical sequence viewer display for a selected gene.
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