Find Diseases by Gene
find_diseases_by_geneRetrieve rare diseases associated with a gene by providing an HGNC gene symbol. Returns Orpha code and disorder name 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 |
|---|---|---|---|
| gene_symbol | Yes | HGNC gene symbol, e.g. 'KIF7' or 'HNF1B'. | |
| limit | No | Max rows returned (default 50). | |
| offset | No | Rows to skip for forward paging (default 0). | |
| response_mode | No | Verbosity: minimal|compact|standard|full (default compact). | compact |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| success | No | ||
| _meta | No | ||
| error_code | No | ||
| message | No | ||
| retryable | No | ||
| recovery_action | No | ||
| field | No | ||
| allowed_values | No | ||
| hint | No | ||
| candidates | No | ||
| gene_symbol | No | ||
| total | No | ||
| returned | No | ||
| limit | No | ||
| offset | No | ||
| next_offset | No | ||
| truncated | No | ||
| results | No |