Cortexa research tool·genomics·orphanet

Orphanet Get Gene Diseases

Get rare diseases associated with a gene from Orphanet. Accepts gene symbols (e.g., 'FBN1', 'BRCA1', 'HTT') or gene name keywords (e.g., 'fibrillin', 'huntingtin', 'dystrophin'). Gene symbols are auto-resolved to full names. Returns disease ORPHA codes, gene symbols, association types, and genomic locus information.

Livelast probed 2026-04-30 23:07Z· 144msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 144ms

Schema

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

{
  "properties": {
    "gene_name": {
      "description": "Gene symbol or name keyword (e.g., 'FBN1', 'BRCA1', 'huntingtin'). Use gene_symbol for standard HGNC symbols. Note: Orphanet uses current HGNC symbols (e.g., 'GBA1' not 'GBA').",
      "type": "string"
    },
    "gene_symbol": {
      "description": "Alternative to gene_name: standard HGNC gene symbol (e.g., 'GBA1', 'FBN1'). Note: Orphanet uses current HGNC symbols (e.g., 'GBA1' not 'GBA').",
      "type": [
        "string",
        "null"
      ]
    },
    "operation": {
      "const": "get_gene_diseases",
      "description": "Operation type (fixed: get_gene_diseases)",
      "type": "string"
    }
  },
  "required": [],
  "type": "object"
}

Examples (1)

Default Orphanet Get Gene Diseases call

public-safeinput

{
  "gene_name": "BRCA1"
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_Orphanet_get_gene_diseases
Tool name: Orphanet_get_gene_diseases
Added: 2026-04-30 22:47Z
Tags: tooluniverse

Orphanet Get Gene Diseases

Livelast probed 2026-04-30 23:07Z· 144msCortexa

Schema

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

{ "properties": { "gene_name": { "description": "Gene symbol or name keyword (e.g., 'FBN1', 'BRCA1', 'huntingtin'). Use gene_symbol for standard HGNC symbols. Note: Orphanet uses current HGNC symbols (e.g., 'GBA1' not 'GBA').", "type": "string" }, "gene_symbol": { "description": "Alternative to gene_name: standard HGNC gene symbol (e.g., 'GBA1', 'FBN1'). Note: Orphanet uses current HGNC symbols (e.g., 'GBA1' not 'GBA').", "type": [ "string", "null" ] }, "operation": { "const": "get_gene_diseases", "description": "Operation type (fixed: get_gene_diseases)", "type": "string" } }, "required": [], "type": "object" }