Disgenet Tools

Configuration File: disgenet_tools.json Tool Type: Local Tools Count: 5

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

Available Tools

DisGeNET_get_disease_genes (Type: DisGeNETTool)

Get all genes associated with a disease from DisGeNET. Returns ranked gene list with association …

DisGeNET_get_disease_genes tool specification

Tool Information:

  • Name: DisGeNET_get_disease_genes

  • Type: DisGeNETTool

  • Description: Get all genes associated with a disease from DisGeNET. Returns ranked gene list with association scores and evidence counts. Filter by minimum score to get high-confidence associations. Useful for disease gene prioritization.

Parameters:

  • operation (string) (required) Operation type (fixed: get_disease_genes)

  • disease (string) (required) Disease ID (UMLS CUI) or disease name

  • min_score (number) (optional) Minimum association score (0-1). Default: no filter

  • limit (integer) (optional) Maximum genes to return (default: 50)

Example Usage:

query = {
    "name": "DisGeNET_get_disease_genes",
    "arguments": {
        "operation": "example_value",
        "disease": "example_value"
    }
}
result = tu.run(query)

DisGeNET_get_gda (Type: DisGeNETTool)

Get gene-disease associations with filtering. Filter by data source (CURATED, LITERATURE, ANIMAL_…

DisGeNET_get_gda tool specification

Tool Information:

  • Name: DisGeNET_get_gda

  • Type: DisGeNETTool

  • Description: Get gene-disease associations with filtering. Filter by data source (CURATED, LITERATURE, ANIMAL_MODELS) and minimum score. Returns comprehensive GDA data with evidence levels. Requires DISGENET_API_KEY.

Parameters:

  • operation (string) (required) Operation type (fixed: get_gda)

  • gene (string) (optional) Gene symbol (optional if disease provided)

  • disease (string) (optional) Disease ID/UMLS CUI (optional if gene provided)

  • source (string) (optional) Data source filter: CURATED, ANIMAL_MODELS, LITERATURE, etc.

  • min_score (number) (optional) Minimum GDA score (0-1). Higher = stronger evidence.

  • limit (integer) (optional) Maximum results (default: 25)

Example Usage:

query = {
    "name": "DisGeNET_get_gda",
    "arguments": {
        "operation": "example_value"
    }
}
result = tu.run(query)

DisGeNET_get_vda (Type: DisGeNETTool)

Get variant-disease associations from DisGeNET. Query by rsID or gene symbol to find disease-asso…

DisGeNET_get_vda tool specification

Tool Information:

  • Name: DisGeNET_get_vda

  • Type: DisGeNETTool

  • Description: Get variant-disease associations from DisGeNET. Query by rsID or gene symbol to find disease-associated variants. Returns variant IDs, diseases, and evidence scores. Useful for pharmacogenomics and variant interpretation.

Parameters:

  • operation (string) (required) Operation type (fixed: get_vda)

  • variant (string) (optional) Variant rsID (e.g., rs1234) - optional if gene provided

  • gene (string) (optional) Gene symbol to get all variants - optional if variant provided

  • limit (integer) (optional) Maximum results (default: 25)

Example Usage:

query = {
    "name": "DisGeNET_get_vda",
    "arguments": {
        "operation": "example_value"
    }
}
result = tu.run(query)

DisGeNET_search_disease (Type: DisGeNETTool)

Search DisGeNET for genes associated with a disease. Query by disease name or UMLS CUI (e.g., C00…

DisGeNET_search_disease tool specification

Tool Information:

  • Name: DisGeNET_search_disease

  • Type: DisGeNETTool

  • Description: Search DisGeNET for genes associated with a disease. Query by disease name or UMLS CUI (e.g., C0006142 for breast cancer). Returns associated genes with scores and evidence. Requires DISGENET_API_KEY.

Parameters:

  • operation (string) (required) Operation type (fixed: search_disease)

  • disease (string) (required) Disease name or UMLS CUI (e.g., C0006142, breast cancer)

  • limit (integer) (optional) Maximum associations to return (default: 10)

Example Usage:

query = {
    "name": "DisGeNET_search_disease",
    "arguments": {
        "operation": "example_value",
        "disease": "example_value"
    }
}
result = tu.run(query)

DisGeNET_search_gene (Type: DisGeNETTool)

Search DisGeNET for diseases associated with a gene. DisGeNET is the largest public database of g…

DisGeNET_search_gene tool specification

Tool Information:

  • Name: DisGeNET_search_gene

  • Type: DisGeNETTool

  • Description: Search DisGeNET for diseases associated with a gene. DisGeNET is the largest public database of gene-disease associations. Returns diseases, association scores, and evidence counts. Requires DISGENET_API_KEY env var (register free at disgenet.org).

Parameters:

  • operation (string) (required) Operation type (fixed: search_gene)

  • gene (string) (required) Gene symbol (e.g., BRCA1, TP53, EGFR)

  • limit (integer) (optional) Maximum associations to return (default: 10)

Example Usage:

query = {
    "name": "DisGeNET_search_gene",
    "arguments": {
        "operation": "example_value",
        "gene": "example_value"
    }
}
result = tu.run(query)