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Research tool·genomics·clingen
ClinGen Search Gene Validity
Search ClinGen gene-disease validity curations by gene symbol. Returns classification (Definitive, Strong, Moderate, Limited, Disputed, Refuted), disease associations, and inheritance patterns. Essential for ACMG variant classification. Example: BRCA1 returns validity scores for hereditary breast/ovarian cancer.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
View JSON schemaExpandCollapse
JSON · 12 lines · 192 chars
Examples (1)
Default ClinGen Search Gene Validity call
Public-safe example · rate-limited
JSON input · 3 lines · 21 chars
Expected response keys: success
Identifiers
- Catalog ID
- tu_ClinGen_search_gene_validity
- Tool name
- ClinGen_search_gene_validity
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse