Fig. 3

Phenotype term query. An example query using “craniosynostosis” as the searched term. a A researcher may wish to know what genes are likely causal for a disease or phenotypic trait. FGFR2 is shown to be the most likely causal gene on OMIM, Orphanet, and Phen2Gene for craniosynostosis, particularly for “Beare-Stevenson Syndrome” (BSS). Pathway information from Reactome for “Activated point mutants of FGFR2” demonstrates further evidence that FGFR2 is the most likely causal gene and provides several alternative drug target candidates. Literature and openFDA data also support fluoxetine, which has significant effects on FGFR2 and its pathways, as a potential cause of the condition. b Alternative ways to look at this symptom include finding alternative co-occurring conditions in COHD, in addition to finding past treatments for patients in the Columbia University Irving Medical Center in conjunction with clinical trial data. FGFR2 is still shown to be a causal gene for many alternative syndromes with this condition. Finally, a user can find current funded research, its principal investigators (PIs), new sources of NIH funding, and non-profit foundations that support research and treatment for the condition