******************************************************************** DisGeNET, a discovery platform for human diseases and their genes ******************************************************************** DisGeNET is made available to users subscribing to it under the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License whose text can be found at https://creativecommons.org/licenses/by-nc-sa/4.0/. DisGeNET is intended to be used only for academic purposes, scientific non-commercial research and education, including teaching activities delivered by academic institutions to students, and scientific research work and/or research study based on or done with DisGeNET that do not have a direct or indirect known commercial purpose. If DisGeNET is incorporated into other works, we ask that DisGeNET is properly cited (see the citation guidelines at https://www.disgenet.org/citation), and that the version number of DisGeNET is clearly displayed. If you intend to use DisGeNET for commercial purposes, that is, to conduct research to develop or enhance a product in or proposed for commerce, use it in a commercial product or service offering, even if the product or service is offered for free, or if you are a commercial company wishing to use DisGeNET, then you must obtain a commercial use license. In that case, please contact info@disgenetplus.com to inquire about commercial use licenses. The files in the current directory contain the data corresponding to the latest release (version 7.0, January 2020). The information is separated by a tab. When fields are concatenated, they are separated by ";" For Gene-Disease associations: disease_associations.tsv.gz => Diseases associated to genes from DisGeNET The columns in the files are: diseaseId -> UMLS concept unique identifier diseaseName -> Name of the disease diseaseType -> The DisGeNET disease type: disease, phenotype and group diseaseClass -> The MeSH disease class(es) diseaseSemanticType -> The UMLS Semantic Type(s) of the disease NofGenes -> Number of genes associated to the disease NofPmids -> Number of publications associated to the disease gene_associations.tsv.gz => Genes associated to Diseases from DisGeNET The columns in the files are: geneId -> NCBI Entrez Gene Identifier geneSymbol -> Official Gene Symbol DSI -> The Disease Specificity Index for the gene DPI -> The Disease Pleiotropy Index for the gene PLI -> The probability for the gene of being loss-of-function intolerant, provided by the GNOMAD consortium protein_class -> Protein Class identifier according to the Drug Target Ontology protein_class_name -> Protein Class according to the Drug Target Ontology NofDiseases -> Number of diseases associated to the gene NofPmids -> Number of publications associated to the gene For Variant-Disease associations: disease_associations.tsv.gz => Diseases associated to variants from DisGeNET The columns in the files are: diseaseId -> UMLS concept unique identifier diseaseName -> Name of the disease diseaseType -> The DisGeNET disease type: disease, phenotype and group diseaseClass -> The MeSH disease class(es) diseaseSemanticType -> The UMLS Semantic Type(s) of the disease NofSnps -> Number of variants associated to the disease NofPmids -> Total number of publications reporting the Variant-Disease association variant_associations.tsv.gz => Variants associated to diseases from DisGeNET The columns in the files are: snpId -> dbSNP variant Identifier chromosome -> Chromosome of the variant position -> Position in chromosome DSI -> The Disease Specificity Index for the variant DPI -> The Disease Pleiotropy Index for the variant NofDiseases -> Number of diseases associated to the variant NofPmids -> Total number of publications reporting the Variant-Disease association disease_mappings.tsv.gz => Mappings from UMLS concept unique identifier to disease vocabularies: DO, EFO, HPO, ICD9CM, MSH, NCI, OMIM, and ORDO variant_to_gene_mappings.tsv.gz => Variant mapped to their corresponding genes, according to dbSNP. The columns in the files are: snpId -> dbSNP variant Identifier geneId -> NCBI Entrez Gene Identifier geneSymbol -> Official Gene Symbol Disclaimer Except where expressly provided otherwise, the site, and all content, materials, information, software, products and services provided on the site, are provided on an "as is" and "as available" basis. The IBI group expressly disclaims all warranties of any kind, whether express or implied, including, but not limited to, the implied warranties of merchantability, fitness for a particular purpose and non-infringement. 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If you have any further questions, please email us at support@disgenet.org last modified: May, 2022