Cortexa research tool·genomics·uniprot_ref

UniProtRef Get Disease

Get detailed information about a specific disease from the UniProt controlled disease vocabulary by its ID. Returns the full disease definition, alternative names, cross-references to OMIM/MeSH/MedGen/SNOMED, and protein association counts. Example: DI-01559 returns 'Breast-ovarian cancer, familial, 1' with links to OMIM:604370 and MeSH:D001943.

Livelast probed 2026-04-30 23:07Z· 81msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 81ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "disease_id": {
      "description": "UniProt disease ID in format DI-XXXXX. Get IDs from UniProtRef_search_diseases. Examples: 'DI-01559' (familial breast-ovarian cancer 1), 'DI-01465' (Cystathioninuria).",
      "type": "string"
    }
  },
  "required": [
    "disease_id"
  ],
  "type": "object"
}

Examples (1)

Default UniProtRef Get Disease call

public-safeinput

{
  "disease_id": "type 2 diabetes"
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_UniProtRef_get_disease
Tool name: UniProtRef_get_disease
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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