Query Open Targets Platform for disease-gene associations, drug targets, and genetic evidence. Input: --disease <EFO_ID or name> [--gene <gene_symbol>] --output <dir>. Output: associations.json, evidence_summary.csv. Distinct from built-in gwas-database skill (GWAS Catalog); this skill uses Open Targets Platform GraphQL API.
Query the Open Targets Platform for disease-gene associations and drug target evidence.
| Task | Input | Output |
|---|---|---|
| Disease associations | --disease "neuroblastoma" | top gene associations by score |
| Gene-disease evidence | --gene MYCN --disease neuroblastoma | evidence types + scores |
| Drug targets | --disease "type 2 diabetes" --drugs | druggable targets + clinical phase |
python3 open_targets_query.py --disease "Parkinson disease" --output /tmp/ot_results/
python3 open_targets_query.py --gene LRRK2 --disease "Parkinson disease" --output /tmp/ot_results/