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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.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 12 lines · 193 chars
Examples (1)
Default ClinGen Search Dosage Sensitivity call
public-safeinput
JSON · 3 lines · 21 chars
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