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Cortexa research tool·genomics·orphanet
Orphanet Get Gene Diseases
Get rare diseases associated with a gene from Orphanet. Accepts gene symbols (e.g., 'FBN1', 'BRCA1', 'HTT') or gene name keywords (e.g., 'fibrillin', 'huntingtin', 'dystrophin'). Gene symbols are auto-resolved to full names. Returns disease ORPHA codes, gene symbols, association types, and genomic locus information.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 22 lines · 715 chars
Examples (1)
Default Orphanet Get Gene Diseases call
public-safeinput
JSON · 3 lines · 26 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_Orphanet_get_gene_diseases
- Tool name
- Orphanet_get_gene_diseases
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse