Cortexa research tool·clinical·clingen

ClinGen Search Dosage Sensitivity

Search ClinGen dosage sensitivity curations by gene symbol. Returns haploinsufficiency (HI) and triplosensitivity (TS) scores (0-3 scale). Score 3 = Sufficient evidence for dosage pathogenicity. Critical for CNV interpretation. Example: MECP2 has HI score of 3.

Livelast probed 2026-04-30 23:07Z· 89msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 89ms

Schema

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

{
  "properties": {
    "gene": {
      "description": "Gene symbol to search (e.g., MECP2, PMP22, RAI1)",
      "type": "string"
    }
  },
  "required": [
    "gene"
  ],
  "type": "object"
}

Examples (1)

Default ClinGen Search Dosage Sensitivity call

public-safeinput

{
  "gene": "BRCA1"
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_ClinGen_search_dosage_sensitivity
Tool name: ClinGen_search_dosage_sensitivity
Added: 2026-04-30 22:47Z
Tags: tooluniverse

Back to catalog