Functional disease annotations for genes using DOAF

DOAF, the Disease Ontology Annotation Framework [1], provides gene–disease relationships extracted from GeneRIF. GeneRIF is a crowdsourced database of functional gene annotations that is integrated into NCBI's Entrez Gene. DOAF describes the resources [1]:

GeneRIF contains brief textual descriptions of genes (up to 250 characters) and are available from the NCBI [2], [3]. Every GeneRIF entry is associated with a PubMed ID, providing published evidence for each description.

Processing

We converted the IDMappings.txt data release into a tsv with a single row per disease–gene pair (notebook, tsv). Genes are in entrez identifiers and diseases are DO terms.

Overall, we identified 50,863 gene–disease functional annotations.