Functional Alteration Evidence

Functional alteration evidence shows that cultured cells in which the function of the gene has been disrupted have a phenotype that is consistent with the human disease process.

Curation of functional alteration evidence is based on whether the experiments were conducted with Patient cells or Non-patient cells; select the appropriate option from the pull-down menu:

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.

• Normal function of gene/gene product requires an entry in either the Gene Ontology (GO) ID or the free text field.

• Description of gene alteration is a free-text field that enables you to describe how the function of the gene was altered in the experiment.

• Evidence for altered function is a free-text field that enables you to describe the evidence presented in the publication.

For the "Patient cells" option, the additional required field is:

• Patient cell type requires an entry in either the Cell Ontology (CL) ID or the free text field.

For the "Non-patient cells" option, the additional required field is:

• Non-patient cell type requires an entry in either the Experimental Factor Ontology (EFO)/Cell Ontology (CL) ID or the free text field.

Links to the Cell Ontology (CL) and the Experimental Factor Ontology (EFO) are provided to aid in searching for the correct ID.

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