uniprot_get_disease_associations
Retrieve curated disease associations for a UniProt entry: name, acronym, disease ID, OMIM cross-reference, and description. For clinical interpretation of protein-disease links.
Instructions
Structured disease associations for a UniProt entry. Returns the diseases recorded in DISEASE-type comments with name, acronym, UniProt disease ID, OMIM cross-reference, description, and the annotation note. Critical for clinical interpretation — distinguishes a UniProt-curated disease association (literature-anchored) from a raw cross-reference. Empty result does not imply disease-irrelevant; see Open Targets / OMIM / DisGeNET for population-level evidence.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| accession | Yes | UniProt accession, e.g. 'P04637' (human TP53) or 'P38398' (human BRCA1). Both reviewed (Swiss-Prot) and unreviewed (TrEMBL) accessions are accepted; case-sensitive. | |
| response_format | No | 'markdown' (default) for a human-readable report with a provenance footer, or 'json' for a machine-parseable structured payload with the same data. Any other value is rejected. | markdown |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |