disgenet

is a Data Source.

DisGeNET is the world's largest and most extensive gene-disease association (GDA) network, integrating data from expert-curated repositories, GWAS catalogs, animal models, and scientific literature. It contains gene-disease associations, variant-disease associations, and disease-disease associations with extensive evidence supporting each connection.

Domains

biomedical, genomics, clinical, precision medicine, translational, drug discovery

Homepage

disgenet

Repository

Unknown

Infores ID

infores:disgenet

FAIRsharing ID

Unknown

Product Summary

Products

From this Resource
ID Name URL Category Format Description
disgenet.data DisGeNET Data www.disgenet.com GraphProduct DisGeNET data, including gene to dise...
disgenet.api DisGeNET API www.disgenet.com ProgrammingInterface http API access to DisGeNET data (requires...
disgenet.browser DisGeNET Browser search?view=ALL&idents=ALL&source=ALL&tab=GDA GraphicalInterface http Browser for DisGeNET data (requires r...
From other Resources
ID Name URL Category Format Description
ubkg.csv UBKG Ontology CSV Files ubkg-downloads.xconsortia.org GraphProduct csv Ontology CSV files that can be import...
rtx-kg2.graph.nodes RTX-KG2.10.1c KGX JSONL Nodes kg2c-2.10.1-v1.0-nodes.jsonl.gz (359.1 MB) GraphProduct kgx-jsonl Nodes for KGX distribution of the RTX...
rtx-kg2.graph.edges RTX-KG2.10.1c KGX JSONL Edges kg2c-2.10.1-v1.0-edges.jsonl.gz (1.7 GB) GraphProduct kgx-jsonl Edges for KGX distribution of the RTX...
rtx-kg2.neo4j RTX-KG2 Neo4j arax.ncats.io ProgrammingInterface Neo4j distribution of the RTX-KG2 as ...
alzkb.browser AlzKB Graph Database Browser login GraphicalInterface http A browser interface for a knowledge g...
alzkb.data AlzKB Data Release (Version 2.0.0) v2.0.0 GraphProduct Memgraph data release for AlzKB.
ubkg.neo4j UBKG Neo4j Docker Distribution ubkg-downloads.xconsortia.org GraphProduct Turnkey neo4j distributions that depl...
bioteque.embeddings Bioteque Embeddings embeddings Product Network embeddings of the Bioteque gr...
indra.cogex.code INDRA CoGEx Build Code indra_cogex ProcessProduct INDRA CoGEx is a graph database integ...
clinicalkg.graph CKG Graph Dump 1 GraphProduct mixed Neo4j database dump of the Clinical K...
pheknowlator.graph PheKnowLator graph knowledge_graphs?pageState=(%22StorageObjectListTable%22:(%22f%22:%22%255B%255D%22))&inv=1&invt=Ab5_1Q&project=pheknowlator GraphProduct owl PheKnowLator graph files, including s...
aop-db.data AOP-DB Data adverse-outcome-pathway-database-aop-db-version-2 Product The EPA has developed the Adverse Out...
cancer-genome-interpreter.clinicalkg.graph CKG Graph Dump 1 GraphProduct mixed Neo4j database dump of the Clinical K...
genecards.disease.associations GeneCards Disease Associations www.genecards.org Product http Disease association data integrated f...
ckg.graph CKG Graph Database Dump 1 GraphProduct neo4j Graph database dump and additional re...

Details

DisGeNET

DisGeNET is the world’s largest and most extensive gene-disease association network, integrating data from numerous expert-curated repositories, GWAS catalogs, animal models, and the scientific literature. It provides a comprehensive resource for investigating the genetic basis of human diseases and facilitates research in genomics, precision medicine, and drug discovery.

Overview

DisGeNET version 25.1.1 (current as of June 2025) contains:

  • 1,982,885 gene-disease associations (GDAs) between 29,460 genes and 42,277 diseases and phenotypes
  • 4,397,303 variant-disease associations (VDAs) between 1,425,623 variants and 19,067 diseases and phenotypes
  • Over 28 million disease-disease associations (DDAs) based on shared genes and variants
  • 14,643 chemicals and drugs associated with GDAs and VDAs
  • Over 13 million individual pieces of evidence supporting 6.38 million genotype-phenotype associations
  • Evidence supported by 1.6 million scientific publications

Data Sources

DisGeNET integrates data from multiple types of sources:

Curated Sources

  • Expert-curated databases: UniProt/SwissProt, ClinVar, PsyGeNET, Orphanet, ClinGen
  • Model organism databases: Mouse Genome Database (MGD), Rat Genome Database (RGD)

GWAS & Clinical Studies

  • GWAS Catalog
  • Phewas Catalog
  • UK Biobank (545,400 VDAs between 1,330 clinical endpoints and 213,328 SNPs)
  • FinnGen (2.7M VDAs between 2,026 clinical endpoints and 636,644 SNPs)
  • Clinical trials data from ClinicalTrials.gov

Literature-Based Sources

  • Text-mined associations from scientific literature on human studies
  • Text-mined associations from studies using animal models

Applications

DisGeNET is designed to support multiple use cases:

  • Target identification and validation for drug discovery
  • Genomic data interpretation for precision medicine
  • Disease mechanism exploration
  • Drug repurposing
  • Patient stratification
  • Biomarker discovery
  • Genetic test development

Access & Availability

DisGeNET offers different access options based on user needs:

  • Web platform for searching and exploring data
  • API for programmatic access (requires registration)
  • R package (disgenet2r) for data analysis within R
  • Integration with multiple knowledge graphs like UBKG and RTX-KG2

Access to DisGeNET is tiered, with different plans available for academic researchers (free) and commercial users. The academic plan provides access to curated resources, while more comprehensive plans include text-mined data, drug/chemical annotations, and API access.

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Created: June 04, 2025 | Last modified: February 20, 2026