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Get Gene Disease Associations

get_gene_disease_associations
Read-onlyIdempotent

Retrieve gene-disease associations from 6 data types including genetic, somatic, drug, animal model, pathway, and literature evidence.

Instructions

Open Targets gene-disease evidence across 6 datatypes: genetic_association, somatic_mutation, known_drug, animal_model, affected_pathway, literature. Auto-indexes gene→disease edges into knowledge graph.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
gene_symbolYesHGNC gene symbol.
max_resultsNoAssociations Default 15.
Behavior4/5

Does the description disclose side effects, auth requirements, rate limits, or destructive behavior?

Annotations (readOnlyHint, idempotentHint, etc.) already indicate safety and idempotency. The description adds context about auto-indexing into a knowledge graph, which is beyond what annotations provide. No contradictions.

Agents need to know what a tool does to the world before calling it. Descriptions should go beyond structured annotations to explain consequences.

Conciseness4/5

Is the description appropriately sized, front-loaded, and free of redundancy?

Two sentences efficiently convey purpose and a behavioral detail. The second sentence about auto-indexing is somewhat extraneous but not harmful.

Shorter descriptions cost fewer tokens and are easier for agents to parse. Every sentence should earn its place.

Completeness3/5

Given the tool's complexity, does the description cover enough for an agent to succeed on first attempt?

Covers data sources but omits return value structure or pagination behavior. Without an output schema, the agent lacks details on what fields are returned, which is a notable gap for a retrieval tool.

Complex tools with many parameters or behaviors need more documentation. Simple tools need less. This dimension scales expectations accordingly.

Parameters3/5

Does the description clarify parameter syntax, constraints, interactions, or defaults beyond what the schema provides?

Schema has 100% description coverage for both parameters (gene_symbol, max_results) with clear details like HGNC and defaults. Description does not add further parameter semantics beyond listing datatypes, so baseline 3 is appropriate.

Input schemas describe structure but not intent. Descriptions should explain non-obvious parameter relationships and valid value ranges.

Purpose5/5

Does the description clearly state what the tool does and how it differs from similar tools?

Clearly states it retrieves Open Targets gene-disease evidence across 6 specified datatypes, making it distinct from sibling tools like get_gene_info or search_gwas_catalog.

Agents choose between tools based on descriptions. A clear purpose with a specific verb and resource helps agents select the right tool.

Usage Guidelines3/5

Does the description explain when to use this tool, when not to, or what alternatives exist?

Describes the tool's function but does not explicitly state when to use it versus alternatives such as get_gene_info or variant_analysis. Usage context is implied but not clearly delineated.

Agents often have multiple tools that could apply. Explicit usage guidance like "use X instead of Y when Z" prevents misuse.

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