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berntpopp
by berntpopp

Find Diseases by Gene

find_diseases_by_gene
Read-onlyIdempotent

Retrieve rare diseases associated with a gene by providing an HGNC gene symbol. Returns Orpha code and disorder name with pagination.

Instructions

Find all Orphanet disorders associated with an HGNC gene symbol. Returns {orpha_code, name} per disorder with pagination. Signature: find_diseases_by_gene(gene_symbol, limit=, offset=, response_mode=).

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
gene_symbolYesHGNC gene symbol, e.g. 'KIF7' or 'HNF1B'.
limitNoMax rows returned (default 50).
offsetNoRows to skip for forward paging (default 0).
response_modeNoVerbosity: minimal|compact|standard|full (default compact).compact

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault
successNo
_metaNo
error_codeNo
messageNo
retryableNo
recovery_actionNo
fieldNo
allowed_valuesNo
hintNo
candidatesNo
gene_symbolNo
totalNo
returnedNo
limitNo
offsetNo
next_offsetNo
truncatedNo
resultsNo
Behavior3/5

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

Annotations already declare readOnlyHint=true, destructiveHint=false, idempotentHint=true, and openWorldHint=true. The description adds that results are paginated and specifies the return format, which provides modest additional context beyond annotations.

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

Conciseness5/5

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

Two sentences, no filler. Essential information is front-loaded: purpose, return type, and signature. Highly efficient.

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?

Given four parameters (one required), full schema coverage, output schema existence, and clear annotations, this description is nearly complete. It explains the return format and pagination, but could briefly mention pagination limits (e.g., max 1000 per page). Still, very good.

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

Parameters4/5

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

Schema coverage is 100%, so baseline is 3. However, the description provides the full function signature with parameter names and defaults, and the return format, adding meaning beyond the schema. It also mentions response_mode enum variants.

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?

Description clearly states it finds all Orphanet disorders associated with an HGNC gene symbol, specifies return format ({orpha_code, name}) with pagination, and provides the function signature. This distinguishes it from sibling tools like find_diseases_by_phenotype.

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?

The description implies use when you have an HGNC gene symbol but does not explicitly state when not to use or mention alternative tools. Given many siblings, some guidance would be helpful, but the name and description make usage relatively clear.

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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