Fig. 1

Website workflow. A user queries the website for a phenotype term using a string search, or for multiple extracted phenotype terms using clinical notes extracted from Griffin et al. [43]. a If using a phenotype term query, the user has several avenues available: searching databases for term Aliases and Diseases, obtaining candidate genes for the term and exploring gene information, co-occurring terms in Columbia Medical System patients, as well as protein pathway, grant, nonprofit, pathway, literature, and clinical trial and drug data. b Using clinical notes to extract phenotype terms, the options are more limited, but still plentiful: clinical trial data, literature search, predicted diseases, candidate genes from Phen2Gene, and exploring extracted terms