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Fig. 2 | Genome Medicine

Fig. 2

From: PhenCards: a data resource linking human phenotype information to biomedical knowledge

Fig. 2

Clinical note query. An example query using clinical notes from a patient provided by Griffin et al. [43] The HPO terms are used to rank potential candidate diseases, and the first ranked disease by amalgamated Elasticsearch score is the diagnosed disease of Aarskog-Scott syndrome. Phen2Gene ranks the causal gene, FGD1, 3rd of all potential candidate genes in the genome using the extracted HPO terms. We can follow the HPO link out to the disease name and from there click on the Orphanet and OMIM links to discover that FGD1 is listed as the causal gene on these sites as well

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