G2P Search
Search the Gene2Phenotype (G2P) database for gene-disease associations curated by clinical geneticists. G2P is maintained by EBI and provides expert-curated evidence for gene-disease relationships used in clinical diagnosis. Returns gene-disease pairs with genotype (monoallelic/biallelic), molecular mechanism (loss/gain of function), clinical panel assignment (DD, Cancer, Skeletal, etc.), and confidence level (definitive, strong, moderate, limited). Useful for clinical variant interpretation an…
Overview
Search the Gene2Phenotype (G2P) database for gene-disease associations curated by clinical geneticists. G2P is maintained by EBI and provides expert-curated evidence for gene-disease relationships used in clinical diagnosis. Returns gene-disease pairs with genotype (monoallelic/biallelic), molecular mechanism (loss/gain of function), clinical panel assignment (DD, Cancer, Skeletal, etc.), and confidence level (definitive, strong, moderate, limited). Useful for clinical variant interpretation and genetic diagnosis.
Schema
JSON Schema the agent (or your API call) must match.
View JSON schemaExpandCollapse
Examples (1)
Default G2P Search call
Public-safe example · rate-limited
Identifiers
- Catalog ID
- tu_G2P_search
- Tool name
- G2P_search
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse