Find Diseases by Gene
find_diseases_by_geneFind Orphanet rare diseases linked to any HGNC gene symbol. Returns disease names and Orpha codes with pagination.
Instructions
Find all Orphanet disorders associated with an HGNC gene symbol. Returns {orpha_code, name} per disorder with pagination. Signature: find_diseases_by_gene(gene_symbol, limit=, offset=, response_mode=).
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| limit | No | Max rows returned (default 50). | |
| offset | No | Rows to skip for forward paging (default 0). | |
| gene_symbol | Yes | HGNC gene symbol, e.g. 'KIF7' or 'HNF1B'. | |
| response_mode | No | Verbosity: minimal|compact|standard|full (default compact). | compact |