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

View source: R/orphanetQuery.R

orphanetQueryR Documentation

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)

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

## Not run: 
result <- orphanetQuery(ensemblId = "ENSG00000080815", efoId = 
"MONDO_0004975", size = 3500)

## End(Not run)

otargen documentation built on Aug. 9, 2025, 1:08 a.m.