drug-discovery-prompts/upstream/K-Dense-AI-scientific-agent-skills/skills/database-lookup/references/disgenet.md

title, task, lineage_type, upstream_source, upstream_sha, imported_at, prompt_class, upstream_changes, author, validated

title	task	lineage_type	upstream_source	upstream_sha	imported_at	prompt_class	upstream_changes	author	validated
DisGeNET (Gene-Disease Associations)		import	https://github.com/K-Dense-AI/scientific-agent-skills/blob/9c9bd2e9/skills/database-lookup/references/disgenet.md	9c9bd2e9	2026-06-26	prompt	accepted	upstream	false

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 protected]&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.