- Associations are top-level records linking between one or more features and one or more diseases, supported by some amount of published evidence. For somatic features, associations typically describe a therapeutic response to a linked drug in the context of a disease.
- Diseases are terms describing the phenotypic context of the containing associations, the majority of which are cancers. These terms have been normalized to Disease Ontology terms when possible.
- Drugs are terms describing therapeutic interventions, which have been normalized to the
- Evidence describes the clinical significance of associations by evidence label and links the significance to a publication or expert consensus.
- Evidence Label
Evidence labels follow the guidelines jointly published by the Association for Molecular Pathology, American Society of Clinical Oncology, and the College of American Pathologists. We have normalized the evidence for each knowledgebase to best fit these recommendations:
- Genomic features identify changes to one or more genomic regions (e.g. genes, chromosomal segments, regulatory regions). These changes may be genetic, epigenetic, or transcriptomic in nature. For somatic mutations, this most commonly refers to a single amino-acid substitution in a gene. Features are normalized to records in the Clingen Allele Registry as available.