monarch-database

Community

Query disease-gene-phenotype data.

Authorjaechang-hits
Version1.0.0
Installs0

System Documentation

What problem does it solve?

This Skill provides programmatic access to the Monarch Initiative's knowledge graph, enabling users to query complex relationships between diseases, genes, and phenotypes, crucial for rare disease research and diagnostics.

Core Features & Use Cases

  • Disease-Gene Associations: Retrieve genes linked to specific diseases (e.g., causal genes for MONDO IDs).
  • Disease-Phenotype Mapping: Find Human Phenotype Ontology (HPO) terms associated with diseases.
  • Entity Metadata: Look up details for genes, diseases, or phenotypes using their identifiers.
  • Cross-Species Comparisons: Analyze gene-phenotype links across different model organisms.
  • Use Case: Given a patient's list of HPO terms, identify candidate genes by finding genes associated with diseases that share those phenotypes.

Quick Start

Use the monarch-database skill to find all genes associated with Marfan syndrome (MONDO:0007374).

Dependency Matrix

Required Modules

requestspandasmatplotlib

Components

scriptsreferences

💻 Claude Code Installation

Recommended: Let Claude install automatically. Simply copy and paste the text below to Claude Code.

Please help me install this Skill:
Name: monarch-database
Download link: https://github.com/jaechang-hits/SciAgent-Skills/archive/main.zip#monarch-database

Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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