A global effort to harmonize gene-level resources.
All data here are released under a Fort Lauderdale Agreement for the benefit of the wider biomedical community. You can freely download and search the data, and we encourage the use and publications of validity data for specific targeted sets of genes. However, we ask that you not publish global (site-wide) analyses of these data, or of large gene sets, until after the GenCC flagship paper has been published (estimated to be spring 2021). After the flagship publication, data will be available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate.
The GenCC maintains this database to provide information pertaining to the validity of gene-disease relationships. The GenCC comprises organizations that currently provide online resources (e.g. ClinGen, DECIPHER, Genetics Home Reference, Genomics England PanelApp, OMIM, Orphanet, PanelApp Australia, TGMI’s G2P), as well diagnostic laboratories that have committed to sharing their internal curated gene-level knowledge (e.g. Ambry, Illumina, Invitae, Myriad Women’s Health, Partners Laboratory for Molecular Medicine).
Member groups submit assertions about gene-disease relationships. Each entry will be an assertion for a gene, disease, and a mode of inheritance with a link to evidence supporting that assertion. Different displays within the database group assertions by submitter, by disease, by gene, and by clinical validity.
To harmonize terms describing gene-disease validity, the GenCC used a Delphi method to survey both members of our GenCC organizations and the international genetics community. Terms that were agreed upon are “Definitive, Strong, Moderate, Limited, Disputed Evidence, Refuted Evidence, Animal Model Only, and No Known Disease Relationship”. Data is mapped to these terms unless a resource did not curate to the same level of granularity as the harmonized list and therefore a broader category of “Supportive” was used to represent a basic level of evidence for gene-disease association such as that used by OMIM and Orphanet. Please see this page for more information on these terms.
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.
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