Compound Gene Disease Tools

Configuration File: compound_gene_disease_tools.json Tool Type: Local Tools Count: 1

This page contains all tools defined in the compound_gene_disease_tools.json configuration file.

Available Tools

gather_gene_disease_associations (Type: CompoundGeneDiseaseAssociationTool)

Query multiple gene-disease databases (DisGeNET, OMIM, OpenTargets, GenCC, ClinVar) in a single c…

gather_gene_disease_associations tool specification

Tool Information:

  • Name: gather_gene_disease_associations

  • Type: CompoundGeneDiseaseAssociationTool

  • Description: Query multiple gene-disease databases (DisGeNET, OMIM, OpenTargets, GenCC, ClinVar) in a single call. Returns a cross-referenced comparison table showing which sources agree on each association, with concordance scores. Use when you need to compare gene-disease evidence across databases or find associations unique to one source.

Parameters:

  • gene ([‘string’, ‘null’]) (optional) Gene symbol (e.g., ‘TP53’, ‘BRCA1’). At least one of gene or disease required.

  • disease ([‘string’, ‘null’]) (optional) Disease name (e.g., ‘breast cancer’, ‘distal renal tubular acidosis’). At least one of gene or disease required.

Example Usage:

query = {
    "name": "gather_gene_disease_associations",
    "arguments": {
    }
}
result = tu.run(query)