otargen (version 2.0.0)

orphanetQuery: Retrieve Orphanet data for a specified gene and disease.

Description

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)

Value

Returns a tibble containing Orphanet evidence data for the specified gene and disease.

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).

Examples

if (FALSE) {
result <- orphanetQuery(ensemblId = "ENSG00000080815", efoId = 
"MONDO_0004975", size = 3500)
}