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Folklore Clinical Variant Interpretation MCP

Find genes associated with a disease

search_disease_genes
Read-onlyIdempotent

Find human genes associated with a disease for genomic analysis and rare-disease research. Accepts an exact MONDO identifier or a disease-name search. Returns matching ClinGen gene-disease validity assertions with inheritance, source reports and snapshot provenance. Name searches may match multiple diseases; preserve their distinct identities and do not infer a diagnosis. Use only a public disease name or identifier; no symptoms, patient or case data. Results require professional review.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
limitNoMaximum number of source assertions per page, from 1 to 50.
offsetNoZero-based assertion offset; use the returned nextOffset when present.
diseaseYesOne public disease name or exact MONDO identifier (MONDO: followed by seven digits). A name search may match multiple distinct diseases. No symptoms or patient narrative.

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault
queryYes
sourceYes
statusYes
warningsYes
paginationYes
associationsYes
usage_boundaryYes
contractVersionYes

Schema Changelog

Changes observed during successful MCP inspections.

  1. Added

TDQS

A4.1/5.0
Behavior5/5

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

Beyond the readOnly/idempotent/non-destructive annotations, it discloses meaningful behavior: name searches can return multiple distinct diseases, the agent must not collapse their identities or infer a diagnosis, and results require professional review. This is exactly the kind of ambiguity and safety context annotations cannot convey.

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?

The purpose and input mode lead, followed by return content and the important caveats, so the key routing information is front-loaded. Five sentences is on the long side, but nearly all of them carry operational or safety content.

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

Completeness4/5

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

With an output schema present, parameter documentation complete, and full annotation coverage, the description does its remaining job well by covering input constraints, multi-match behavior and review requirements. The one missing piece is distinguishing this tool from the similarly named get_gene_disease_associations sibling.

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 description coverage is 100%, so the schema already documents disease, limit and offset, including the MONDO: seven-digit format and the nextOffset pagination hint. The description adds only a light clarification that results are per-assertion and that name search may fan out, so the baseline 3 applies.

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

Purpose4/5

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

States a specific verb (Find) and resource (human genes associated with a disease), plus the underlying data source (ClinGen gene-disease validity assertions). It does not, however, differentiate itself from the near-identical sibling get_gene_disease_associations, leaving some ambiguity about which to pick.

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

Usage Guidelines4/5

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

Gives clear input-side boundaries: 'Use only a public disease name or identifier; no symptoms, patient or case data,' and frames the context (genomic analysis, rare-disease research). It stops short of naming the alternative sibling tool or the conditions that would route an agent there instead.

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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