This function queries the Open Targets GraphQL API to retrieve Orphanet evidence data
for a specified gene and disease.
Usage
orphanetQuery(ensemblId, efoId, size = 3500)
Arguments
- ensemblId
Character: ENSEMBL ID of the target gene (e.g., "ENSG00000080815").
- efoId
Character: EFO ID of the target disease (e.g., "MONDO_0004975").
- size
Integer: Number of records to retrieve (default: 3500).
Value
Returns a tibble containing Orphanet evidence data for the specified gene and disease.
Examples
if (FALSE) { # \dontrun{
result <- orphanetQuery(ensemblId = "ENSG00000080815", efoId =
"MONDO_0004975", size = 3500)
} # }
