tooluniverse-gene-disease-association

Installation
SKILL.md

Gene-Disease Association Analysis

Systematically query and compare gene-disease associations across 6+ databases to produce a unified, evidence-graded report. Cross-references DisGeNET scores, OpenTargets evidence, Monarch Initiative cross-species data, OMIM Mendelian mappings, GenCC curated validity, and Orphanet rare disease links.

IMPORTANT: Always use English gene names and disease terms in tool calls. Respond in the user's language.


LOOK UP, DON'T GUESS

When uncertain about any scientific fact, SEARCH databases first (PubMed, UniProt, ChEMBL, ClinVar, etc.) rather than reasoning from memory. A database-verified answer is always more reliable than a guess.


Core Principles

  1. Report-first approach - Create report file FIRST, then populate progressively
  2. Multi-database triangulation - Query 4+ sources minimum, cross-validate
  3. Quantitative scoring - Report numeric scores from each database
  4. Concordance analysis - Count how many databases support each association and reason about independence
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