manus-skills/.kortix/opencode/skills/data/database-lookup/references/disgenet.md
zhukang 1c7abd81d1 All 310 Manus skill-hub community skills as a Kortix marketplace registry
- 310 registry:skill items, 1528 files, 7 categories (hub tags)
- registry.json generated by @kortix/registry buildRegistry
- nested SKILL.md in sn-da-* renamed SUBSKILL.md (no phantom skills)
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2026-09-15 13:37:20 +08:00

1.4 KiB

DisGeNET (Gene-Disease Associations)

Base URL

https://www.disgenet.org/api

Auth

API key required. Register at disgenet.org, then authenticate:

curl -X POST https://www.disgenet.org/api/auth/ \
  -d 'email=you@example.com&password=yourpassword'
# Returns: {"token": "abc123..."}

Pass as: Authorization: Bearer <token>

Load token from .env as DISGENET_API_KEY.

Key Endpoints

Endpoint Description
/gda/gene/{gene_id} Gene-disease associations (NCBI gene ID)
/gda/disease/{disease_id} Gene-disease associations (UMLS CUI)
/gda/evidences/gene/{gene_id} Evidence-level data
/vda/gene/{gene_id} Variant-disease associations for a gene
/vda/variant/{rsid} Variant-disease associations (dbSNP rsID)

Parameters

  • source — CURATED, BEFREE, ALL
  • min_score — GDA score threshold (0-1)
  • min_ei — evidence index threshold
  • format — json or tsv
  • limit, offset — pagination

Example Calls

# Gene-disease for TP53 (gene ID 7157)
/gda/gene/7157?source=CURATED&min_score=0.3&limit=10&format=json

# Disease-gene for Breast Cancer (UMLS CUI C0006142)
/gda/disease/C0006142?limit=10

# Variant-disease for rs1042522
/vda/variant/rs1042522

Rate Limits

Free academic tier: ~few hundred requests/day. Paid tiers available.

Free alternative

If no API key: use Open Targets for disease-gene associations.