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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.
View JSON schemaExpandCollapse
JSON · 15 lines · 313 chars
Examples (1)
Default ClinGen Get Dosage Sensitivity call
Public-safe example · rate-limited
JSON input · 4 lines · 49 chars
Expected response keys: success
Identifiers
- Catalog ID
- tu_ClinGen_get_dosage_sensitivity
- Tool name
- ClinGen_get_dosage_sensitivity
- Added
- 2026-05-01 00:58Z
- Tags
- tooluniverse