rare_disease_genetics - Rare Disease Genetic Analysis
Analyze rare disease genetics using Monarch, ClinVar, NCBI, and OpenTargets databases
Tags
Updated: 2026-03-10Capabilities
Typical Inputs
Typical Outputs
What this skill does
- Get HPO ID by phenotype
- Find associated diseases by HPO IDs
- Search ClinVar for variants
- Get associated targets by disease EFO ID
Inputs
- Phenotype description
- HPO ID list
- Disease EFO ID
Outputs
- HPO ID
- Associated diseases
- Pathogenic variants
- Target associations
Requirements
- Monarch server connection
- Search server connection
- OpenTargets server connection
- SCP Hub API key