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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.
View JSON schemaExpandCollapse
JSON · 22 lines · 715 chars
Examples (1)
Default Orphanet Get Gene Diseases call
Public-safe example · rate-limited
JSON input · 4 lines · 50 chars
Expected response keys: success
Identifiers
- Catalog ID
- tu_Orphanet_get_gene_diseases
- Tool name
- Orphanet_get_gene_diseases
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse