Creating a Gene-Disease Record
Last updated
Last updated
Prior to creating a new gene-disease record (also known as a GDM, for Gene, Disease & MOI) in the GCI, pre-curation within the GeneTracker database is required. Pre-curation includes defining the disease (MONDO ID) and mode of inheritance and capturing the decision within the GeneTracker. A link to the GeneTracker is provided; it requires a separate login.
Only one record can exist in the GCI for each unique gene-disease-MOI pairing. If curation is desired for a GDM that already exists, it is customary to contact the Coordinator for the GCEP that created it to see if they are amenable to a transfer of ownership of that GDM.
Before creating a new Gene-Disease Record, make sure that you are curating within the correct Affiliation, i.e. the Gene Curation Expert Panel (GCEP).
Once a Gene-Disease Record has been created, the gene, mode of inheritance, and adjective cannot be altered. Please be certain that you have selected the desired fields correctly from the beginning.
A new gene-disease record is created by selecting the "New Gene Curation" button.
The GCI requires you to enter the HGNC gene symbol, the disease entity (MONDO ID), and the mode of inheritance (via pulldown options provided). An optional adjective that further describes the mode of inheritance can be selected from a list of options. In addition, you must enter the GeneTracker precuration ID, which can be found on the GeneTracker page (see below) and in the URL of the page.
The GCI will check the information you enter against the record in the GeneTracker. The gene, disease, mode of inheritance, and affiliation you are curating under must match with the GeneTracker information; if a mismatch is detected, the GCI will return an error message.
A link to the HGNC is provided, enabling you to confirm that you are using the approved gene symbol. Enter the gene symbol and select the appropriate mode of inheritance from the drop-down menu. For some modes of inheritance, an optional "adjective" or distinguishing characteristic that provides further detail can be added. For Disease/MONDO search help, please see this page.
