Important notice

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

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Variant-Disease Associations

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README

README file

SQLite Files

Current Release

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DisGeNET SQLite 2020 - v7.0

Mappings

UniProt Downloads

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Variant to Gene mappings

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

UMLS CUI to several disease vocabularies

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

The file contains the mappings of DisGeNET UMLS CUIs to the following disease vocabularies: DO, EFO, HPO, ICD9CM, ICD10, ICD10CM, 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 2019AA )

vocabulary DO EFO HPO ICD10 ICD10CM ICD9CM MONDO MSH NCI OMIM ORDO
percent 30.2 14.7 28.3 7.5 14.3 7.7 43.9 35.7 27.5 23.9 19.8

UMLS CUI to top disease classes

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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