Expression Evidence

Curation of expression evidence is based on two options that are selected from a pull-down menu:

  • A. The gene is expressed in tissues relevant to the disease of interest.

  • B. The gene is altered in expression in patients who have the disease.

The curation interface for both options has a number of required fields, shown with an asterisk next to the field. For both, the required fields are:

  • Experiment name is a free-text field; please choose a descriptive name for the experiment.

  • Organ or tissue relevant to disease requires an entry in either the Uberon ID or the free text field. Uberon is an integrated cross-species anatomy ontology. A link to Uberon is provided to aid in searching for the correct ID.

If the gene is normally expressed in the tissue implicated in the disease or is altered in patients with the disease, check the box next to the corresponding text. Please note that if no such normal or altered expression has been shown, the gene expression evidence can not be scored.

Finally, select whether the experimental evidence should be scored, brought up for review by the GCEP, or contradicts the gene-disease association.

Remember to click the "Save" button at the bottom of the page. If you click "Cancel" or navigate away from the page without saving, all entered data will be lost.

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