2021 Articles
PhenCards: a data resource linking human phenotype information to biomedical knowledge
We present PhenCards (
https://phencards.org
), a database and web server intended as a one-stop shop for previously disconnected biomedical knowledge related to human clinical phenotypes. Users can query human phenotype terms or clinical notes. PhenCards obtains relevant disease/phenotype prevalence and co-occurrence, drug, procedural, pathway, literature, grant, and collaborator data. PhenCards recommends the most probable genetic diseases and candidate genes based on phenotype terms from clinical notes. PhenCards facilitates exploration of phenotype, e.g., which drugs cause or are prescribed for patient symptoms, which genes likely cause specific symptoms, and which comorbidities co-occur with phenotypes.
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Also Published In
- Title
- Genome Medicine
- DOI
- https://doi.org/10.1186/s13073-021-00909-8
More About This Work
- Published Here
- December 20, 2022
Notes
Disease, Phenotype, Genetics, Natural Language Processing, Mendelian diseases, Rare disease, Common disease, Drug targets, Collaborative support