I am trying to query a gene and look only for associations with diseases and phenotypes of interest to me. In other words, does my gene have a genetic association with anything in this specific SET of diseases and phenotypes?
I know that Open Targets diseases and phenotypes are based on the EFO, but is there a complete list somewhere of diseases and phenotypes that could show up in the Disease/Phenotype table?
Take kidney diseases for example. The kidney related disease categories in your table include specific disease diagnoses like chronic kidney disease, focal segmental glomerulosclerosis, glomerulonephritis, diabetic nephropathy, etc. and also specific clinical measures/diagnoses like changes in eGFR, proteinuria, albuminuria, etc. I am interested in all of these and more. So how do I search for associations with anything in this set other than by running the standard gene search and hunting and pecking through the table for the members of this set?
Related, I don’t even know the full set of diseases and phenotypes that might be of interest here. I only know of the above terms/phrases because I’ve seen them show up in my queries.
This question was sent to the Open Targets helpdesk and has been posted here so that the answer can benefit the whole Community.