get_disease_targets_summary

Retrieve a summary of gene targets associated with a specific disease, filtered by association score and quantity, for gene-drug-disease research analysis.

Instructions

Get overview of all targets associated with a disease

Input Schema

TableJSON Schema

Name	Required	Description
`diseaseId`	Yes	Disease EFO ID
`minScore`	No	Minimum association score (0-1)
`size`	No	Number of targets to return (1-500, default: 50)

Implementation Reference

src/index.ts:510-564 (handler)

The handler function that validates input, executes a GraphQL query to fetch disease-associated targets from Open Targets, processes the top 10 targets into a summary, and returns the result as JSON text.

private async handleGetDiseaseTargetsSummary(args: any) {
  if (!isValidIdArgs(args) && !args.diseaseId) {
    throw new McpError(ErrorCode.InvalidParams, 'Disease ID is required');
  }

  try {
    const diseaseId = args.diseaseId || args.id;

    const query = `query GetDiseaseTargetsSummary($efoId: String!) { disease(efoId: $efoId) { id name associatedTargets { count rows { target { id approvedSymbol approvedName } score } } } }`;

    const response = await this.graphqlClient.post('', {
      query,
      variables: {
        efoId: diseaseId,
        size: args.size || 50
      }
    });

    const diseaseData = response.data.data?.disease;
    const associations = diseaseData?.associatedTargets;

    const summary = {
      diseaseId,
      diseaseName: diseaseData?.name,
      totalTargets: associations?.count || 0,
      topTargets: associations?.rows?.slice(0, 10).map((assoc: any) => ({
        targetId: assoc.target.id,
        targetSymbol: assoc.target.approvedSymbol,
        targetName: assoc.target.approvedName,
        associationScore: assoc.score,
        datatypeScores: assoc.datatypeScores,
      })) || [],
      fullResults: response.data,
    };

    return {
      content: [
        {
          type: 'text',
          text: JSON.stringify(summary, null, 2),
        },
      ],
    };
  } catch (error) {
    return {
      content: [
        {
          type: 'text',
          text: `Error getting disease targets summary: ${error instanceof Error ? error.message : 'Unknown error'}`,
        },
      ],
      isError: true,
    };
  }
}

src/index.ts:250-262 (schema)

The tool registration entry defining the name, description, and input schema (diseaseId required, optional minScore and size). Note: minScore is defined but not used in handler.

{
  name: 'get_disease_targets_summary',
  description: 'Get overview of all targets associated with a disease',
  inputSchema: {
    type: 'object',
    properties: {
      diseaseId: { type: 'string', description: 'Disease EFO ID' },
      minScore: { type: 'number', description: 'Minimum association score (0-1)', minimum: 0, maximum: 1 },
      size: { type: 'number', description: 'Number of targets to return (1-500, default: 50)', minimum: 1, maximum: 500 },
    },
    required: ['diseaseId'],
  },
},

src/index.ts:298-299 (registration)
The switch case in the request handler that dispatches calls to this tool to its handler method.
```
case 'get_disease_targets_summary':
  return this.handleGetDiseaseTargetsSummary(args);
```

src/index.ts:240-286 (registration)

The server.setTools call registering all tools including this one (full tools array spans lines ~190-285).

        type: 'object',
        properties: {
          targetId: { type: 'string', description: 'Target Ensembl gene ID' },
          diseaseId: { type: 'string', description: 'Disease EFO ID' },
          minScore: { type: 'number', description: 'Minimum association score (0-1)', minimum: 0, maximum: 1 },
          size: { type: 'number', description: 'Number of results to return (1-500, default: 25)', minimum: 1, maximum: 500 },
        },
        required: [],
      },
    },
    {
      name: 'get_disease_targets_summary',
      description: 'Get overview of all targets associated with a disease',
      inputSchema: {
        type: 'object',
        properties: {
          diseaseId: { type: 'string', description: 'Disease EFO ID' },
          minScore: { type: 'number', description: 'Minimum association score (0-1)', minimum: 0, maximum: 1 },
          size: { type: 'number', description: 'Number of targets to return (1-500, default: 50)', minimum: 1, maximum: 500 },
        },
        required: ['diseaseId'],
      },
    },
    {
      name: 'get_target_details',
      description: 'Get comprehensive target information',
      inputSchema: {
        type: 'object',
        properties: {
          id: { type: 'string', description: 'Target Ensembl gene ID' },
        },
        required: ['id'],
      },
    },
    {
      name: 'get_disease_details',
      description: 'Get comprehensive disease information',
      inputSchema: {
        type: 'object',
        properties: {
          id: { type: 'string', description: 'Disease EFO ID' },
        },
        required: ['id'],
      },
    },
  ],
}));

OpenTargets MCP Server