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The DisGeNET database is made available under the Attribution-NonCommercial-ShareAlike 4.0 International License whose text can be found here. For more information, see the Legal Notices page.

Tab separated files

Gene-Disease Associations

Curated gene-disease associations

The file contains gene-disease associations from UNIPROT, CGI, ClinGen, Genomics England, CTD (human subset), PsyGeNET, and Orphanet.

BeFree gene-disease associations

The file contains gene-disease associations obtained by text mining MEDLINE abstracts using the BeFree system.

ALL gene-disease associations

The file contains all gene-disease associations in DisGeNET.

ALL gene-disease-pmid associations

The file contains all gene-disease-pmid associations in DisGeNET.

Variant-Disease Associations

Curated variant-disease associations

The file contains variant-disease associations from UNIPROT, ClinVar, GWASdb, and the GWAS catalog.

BeFree variant-disease associations

The file contains variant-disease associations obtained by text mining MEDLINE abstracts using the BeFree system.

ALL variant-disease associations

The file contains all variant-disease associations in DisGeNET.

ALL variant-disease-pmid associations

The file contains all variant-disease-pmid associations in DisGeNET.

README

README file

RDF linked dataset

RDF Downloads

The directory contains the DisGeNET-RDF data dump and the VoID description files corresponding to DisGeNET version 5.0

Mappings

UniProt Downloads

UniProt Downloads

Variant to Gene mappings

Variant-Gene Mappings File

The file contains the mappings of DisGeNET variants (dbSNP Identifiers) to NCBI Entrez identifiers according to dbSNP database

UMLS CUI to several disease vocabularies

The file contains the mappings of DisGeNET genes (Entrez Gene Identifiers) to UniProt entries

UMLS CUI to several disease vocabularies

The file contains the mappings of DisGeNET UMLS CUIs to the following disease vocabularies: DO, EFO, HPO, ICD9CM, MSH, NCI, OMIM, ORDO, Notice that not every CUI in DisGeNET has an equivalent code in another vocabulary (see table below). Also, the correspondence is not always 1:1. The mappings were generated with the UMLS Metathesaurus (v 2016AB )

vocabulary DO EFO HPO ICD9CM MSH NCI OMIM ORDO
percent 36.2 14.7 33.3 8.5 41.6 27.7 29.5 19.8

UMLS CUI to top disease classes

UMLS CUI to top disease classes

The file contains the mappings of DisGeNET concepts to the top disease classifications from the following vocabularies and ontologies

  • The DisGeNET disease type
  • MeSH disease class from the C and F branches.
  • The Disease Ontology.
  • The Human Phenotype Ontology.
  • The UMLS Semantic Type.
NOTICE: not all concepts have mappings to these categories with the exceptions of the DisGeNET disease type and the UMLS Semantic Type

Other Files

File with BeFree gene-disease-pmid associations for PubAnnotation

BeFree gene-disease-pmid associations for Pubannotation

The file contains gene-disease associations obtained by text mining MEDLINE abstracts using the BeFree system, including the gene and disease off sets. This dataset is produced to be loaded in Pubannotation.

File with BeFree variant-disease-pmid associations for PubAnnotation

BeFree variant-disease-pmid associations for Pubannotation

The file contains variant-disease associations obtained by text mining MEDLINE abstracts using the BeFree system, including the variant and disease off sets. This dataset is produced to be loaded in Pubannotation.