Cortexa research tool·genomics·uniprot_ref

UniProtRef Search Diseases

Search the UniProt controlled disease vocabulary for disease definitions. Returns disease entries with OMIM, MeSH, MedGen, and SNOMED cross-references plus the number of reviewed proteins associated with each disease. Use this to find UniProt disease IDs (DI-XXXXX) for downstream analysis. Example: searching 'breast cancer' returns DI-03803 (lobular breast cancer), DI-01559 (familial breast-ovarian cancer 1), DI-02603 (familial breast-ovarian cancer 2).

Livelast probed 2026-04-30 23:07Z· 105msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 105ms

Schema

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

{
  "properties": {
    "query": {
      "description": "Search query for diseases. Can be disease name, symptom keyword, or gene name. Examples: 'breast cancer', 'diabetes', 'Alzheimer', 'cystic fibrosis', 'TP53'.",
      "type": "string"
    },
    "size": {
      "description": "Maximum number of results to return (default: 10, max: 25).",
      "type": "integer"
    }
  },
  "required": [
    "query"
  ],
  "type": "object"
}

Examples (1)

Default UniProtRef Search Diseases call

public-safeinput

{
  "query": "BRCA1",
  "size": 1
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_UniProtRef_search_diseases
Tool name: UniProtRef_search_diseases
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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