Look up clinical significance and pathogenicity of genetic variants. Find variants associated with diseases and research gene-disease associations.
Apache 2.0
510,481 tools. Updated 2026-09-04 01:58
"A database of diseases with associated genetic variants and sequencing information" matching MCP tools:
- Retrieve genetic diseases linked to a specific gene from OMIM and other databases. Input a gene symbol to get associated disease information.MIT
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- Evaluate genetic risk for specific diseases such as cancer, Alzheimer's, and diabetes. Enter a condition to receive personalized risk assessment.MIT
- Fetches variation details for a given UniProt accession, providing protein sequence, alternative sequences, disease associations, and prediction scores from PolyPhen and SIFT.Apache 2.0
- Retrieve a quick summary of a database including table schemas and size information. Supports setting a default database and output length limits.Apache 2.0
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- Retrieve the list of diseases annotated in the Reactome pathway database. Use this to identify disease-related pathways and annotations.Apache 2.0
- Retrieve human disease information using C. elegans models, including associated genes and orthologs from the WormBase database.MIT
- Retrieve genetic variation details including molecular information, phenotypes, and associated strains from the WormBase database for C. elegans research.MIT
- Retrieve detailed phenotype information from WormBase, including associated genes, RNAi experiments, and variations, using a phenotype identifier.MIT
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- Predict the functional consequences of any genetic variant, including novel variants and non-human species, using Ensembl VEP. Returns most severe effect and per-transcript details.Apache 2.0
- Retrieve comprehensive biomedical data for articles, clinical trials, genes, drugs, diseases, and variants using unique identifiers. Standardized format supports detailed research and analysis across domains.MIT
- Get information about NCBI Entrez databases. Specify a database name for detailed info including description, record count, and searchable fields, or leave empty to list all databases with counts.MIT
- Search biomedical literature, clinical trials, genetic variants, genes, drugs, and diseases using a unified query language or domain-specific filters. Access data from PubMed/PubTator3, ClinicalTrials.gov, MyVariant.info, and BioThings suite for precise research insights.MIT
- Retrieve a list of all tables with schema, owner, type, and size information from a PostgreSQL database to understand its structure and contents.MIT
- Prioritizes genetic variants by matching patient HPO phenotype terms to rank variants most likely explaining symptoms. Supports inheritance filtering and result limits.MIT