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Cortexa research tool·clinical·clingen_dosage
ClinGen Dosage By Gene
Get ClinGen dosage sensitivity curation for a specific gene using the JSON API. Returns haploinsufficiency (HI) and triplosensitivity (TS) assertion scores with genomic coordinates in both GRCh37 and GRCh38. Scores: 0=No evidence, 1=Little evidence, 2=Emerging evidence, 3=Sufficient evidence, 30=Gene associated with autosomal recessive phenotype, 40=Dosage sensitivity unlikely. Also includes pLI score, HI prediction score, and associated diseases with MONDO IDs.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 12 lines · 222 chars
Examples (1)
Default ClinGen Dosage By Gene 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_dosage_by_gene
- Tool name
- ClinGen_dosage_by_gene
- Added
- 2026-05-01 00:58Z
- Tags
- tooluniverse