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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Disease associations
Gene associations
Variant-Disease Associations
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Disease associations
Variant associations
SQLite Files
Current Release
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DisGeNET SQLite 2020 - v7.0
Mappings
UniProt Downloads
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UniProt Downloads
Variant to Gene mappings
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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
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Variant-Gene Mappings File
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, 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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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.