G2P Download Panel
Download the FULL content of a Gene2Phenotype (G2P) clinical panel as structured gene-disease records. Unlike G2P_get_panel (which returns only summary counts), this returns EVERY curated gene-disease entry in the panel with: G2P stable id, gene symbol, HGNC id, gene MIM, disease name, disease MIM, disease MONDO id, allelic requirement (inheritance), confidence (definitive/strong/moderate/limited), variant consequence, variant types, molecular mechanism, phenotypes (HPA/HP terms), supporting pu…
Overview
Download the FULL content of a Gene2Phenotype (G2P) clinical panel as structured gene-disease records. Unlike G2P_get_panel (which returns only summary counts), this returns EVERY curated gene-disease entry in the panel with: G2P stable id, gene symbol, HGNC id, gene MIM, disease name, disease MIM, disease MONDO id, allelic requirement (inheritance), confidence (definitive/strong/moderate/limited), variant consequence, variant types, molecular mechanism, phenotypes (HPA/HP terms), supporting publications (PubMed IDs), panels, and review dates. Use this to enumerate all genes in a panel or to build clinical gene lists. Panels: DD (developmental disorders, ~2856 records), Cancer (~125 records), Skeletal, Eye, Cardiac, Ear, Skin, Hearing loss, Mitochondrial.
Schema
JSON Schema the agent (or your API call) must match.
View JSON schemaExpandCollapse
Examples (1)
Default G2P Download Panel call
Public-safe example · rate-limited
Identifiers
- Catalog ID
- tu_G2P_download_panel
- Tool name
- G2P_download_panel
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse