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Cortexa research tool·clinical·clingen

ClinGen Get Dosage Sensitivity

Get all ClinGen dosage sensitivity curations. Returns haploinsufficiency and triplosensitivity scores for curated genes. Set include_regions=true to also get recurrent CNV regions. Scores: 0=No evidence, 1=Little, 2=Emerging, 3=Sufficient evidence.

AvailableCortexa

Schema

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

JSON · 15 lines · 313 chars

Examples (1)

Default ClinGen Get Dosage Sensitivity call

public-safeinput
JSON · 4 lines · 49 chars
Expected response keys: success

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

Identifiers

Catalog ID
tu_ClinGen_get_dosage_sensitivity
Tool name
ClinGen_get_dosage_sensitivity
Added
2026-05-01 00:58Z
Tags
tooluniverse
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