{"id":"https://openalex.org/W4226064195","doi":"https://doi.org/10.1093/database/baac019","title":"Diseases 2.0: a weekly updated database of disease\u2013gene associations from text mining and data integration","display_name":"Diseases 2.0: a weekly updated database of disease\u2013gene associations from text mining and data integration","publication_year":2022,"publication_date":"2022-01-01","ids":{"openalex":"https://openalex.org/W4226064195","doi":"https://doi.org/10.1093/database/baac019","pmid":"https://pubmed.ncbi.nlm.nih.gov/35348648"},"language":"en","primary_location":{"id":"doi:10.1093/database/baac019","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baac019","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baac019/43083556/baac019.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Database","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baac019/43083556/baac019.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5009991903","display_name":"Dhouha Grissa","orcid":"https://orcid.org/0000-0002-9448-0126"},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]},{"id":"https://openalex.org/I2801134892","display_name":"Novo Nordisk Foundation","ror":"https://ror.org/04txyc737","country_code":"DK","type":"facility","lineage":["https://openalex.org/I2801134892"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Dhouha Grissa","raw_affiliation_strings":["Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark"],"affiliations":[{"raw_affiliation_string":"Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark","institution_ids":["https://openalex.org/I2801134892","https://openalex.org/I124055696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006363776","display_name":"Alexander Junge","orcid":"https://orcid.org/0000-0002-2410-9671"},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]},{"id":"https://openalex.org/I2801134892","display_name":"Novo Nordisk Foundation","ror":"https://ror.org/04txyc737","country_code":"DK","type":"facility","lineage":["https://openalex.org/I2801134892"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Alexander Junge","raw_affiliation_strings":["Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark"],"affiliations":[{"raw_affiliation_string":"Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark","institution_ids":["https://openalex.org/I2801134892","https://openalex.org/I124055696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061685157","display_name":"Tudor I. Oprea","orcid":"https://orcid.org/0000-0002-6195-6976"},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]},{"id":"https://openalex.org/I169521973","display_name":"University of New Mexico","ror":"https://ror.org/05fs6jp91","country_code":"US","type":"education","lineage":["https://openalex.org/I169521973"]},{"id":"https://openalex.org/I2801134892","display_name":"Novo Nordisk Foundation","ror":"https://ror.org/04txyc737","country_code":"DK","type":"facility","lineage":["https://openalex.org/I2801134892"]}],"countries":["DK","US"],"is_corresponding":false,"raw_author_name":"Tudor I Oprea","raw_affiliation_strings":["Department of Internal Medicine, Division of Translational Informatics, University of New Mexico Health Sciences Center, Albuquerque, NM, USA","Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark"],"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Division of Translational Informatics, University of New Mexico Health Sciences Center, Albuquerque, NM, USA","institution_ids":["https://openalex.org/I169521973"]},{"raw_affiliation_string":"Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark","institution_ids":["https://openalex.org/I2801134892","https://openalex.org/I124055696"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005772961","display_name":"Lars Juhl Jensen","orcid":"https://orcid.org/0000-0001-7885-715X"},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]},{"id":"https://openalex.org/I2801134892","display_name":"Novo Nordisk Foundation","ror":"https://ror.org/04txyc737","country_code":"DK","type":"facility","lineage":["https://openalex.org/I2801134892"]}],"countries":["DK"],"is_corresponding":true,"raw_author_name":"Lars Juhl Jensen","raw_affiliation_strings":["Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark"],"affiliations":[{"raw_affiliation_string":"Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark","institution_ids":["https://openalex.org/I2801134892","https://openalex.org/I124055696"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5005772961"],"corresponding_institution_ids":["https://openalex.org/I124055696","https://openalex.org/I2801134892"],"apc_list":{"value":1415,"currency":"GBP","value_usd":1735},"apc_paid":{"value":1415,"currency":"GBP","value_usd":1735},"fwci":9.982,"has_fulltext":true,"cited_by_count":127,"citation_normalized_percentile":{"value":0.99028565,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"2022","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9998000264167786,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9998000264167786,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9851999878883362,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9815999865531921,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.581095814704895},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.489401251077652},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.3614349961280823},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.35865747928619385},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.34666118025779724},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.33909907937049866}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.581095814704895},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.489401251077652},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.3614349961280823},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.35865747928619385},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.34666118025779724},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.33909907937049866}],"mesh":[{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/database/baac019","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baac019","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baac019/43083556/baac019.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Database","raw_type":"journal-article"},{"id":"pmid:35348648","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35348648","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Database : the journal of biological databases and curation","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:9216524","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9216524","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Database (Oxford)","raw_type":"Text"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/06bb2c36-67cc-4a12-811d-6b3e5d2c5db2","is_oa":true,"landing_page_url":"https://researchprofiles.ku.dk/da/publications/06bb2c36-67cc-4a12-811d-6b3e5d2c5db2","pdf_url":null,"source":{"id":"https://openalex.org/S4306401983","display_name":"Research at the University of Copenhagen (University of Copenhagen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I124055696","host_organization_name":"University of Copenhagen","host_organization_lineage":["https://openalex.org/I124055696"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Grissa , D , Junge , A , Oprea , T I & Jensen , L J 2022 , ' Diseases 2.0 : a weekly updated database of disease-gene associations from text mining and data integration ' , Database : the journal of biological databases and curation , vol. 2022 , no. 2022 . https://doi.org/10.1093/database/baac019","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1093/database/baac019","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baac019","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baac019/43083556/baac019.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Database","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G4282887365","display_name":null,"funder_award_id":"NNF14CC0001","funder_id":"https://openalex.org/F4320322436","funder_display_name":"Novo Nordisk"},{"id":"https://openalex.org/G6662978750","display_name":null,"funder_award_id":"NNF14CC0001","funder_id":"https://openalex.org/F4320325957","funder_display_name":"Novo Nordisk Fonden"},{"id":"https://openalex.org/G7031468586","display_name":null,"funder_award_id":"NNF14CC000","funder_id":"https://openalex.org/F4320325957","funder_display_name":"Novo Nordisk Fonden"},{"id":"https://openalex.org/G996161988","display_name":null,"funder_award_id":"14CC0001","funder_id":"https://openalex.org/F4320325957","funder_display_name":"Novo Nordisk Fonden"}],"funders":[{"id":"https://openalex.org/F4320322436","display_name":"Novo Nordisk","ror":"https://ror.org/0435rc536"},{"id":"https://openalex.org/F4320325957","display_name":"Novo Nordisk Fonden","ror":"https://ror.org/04txyc737"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4226064195.pdf","grobid_xml":"https://content.openalex.org/works/W4226064195.grobid-xml"},"referenced_works_count":45,"referenced_works":["https://openalex.org/W1494567425","https://openalex.org/W1981215030","https://openalex.org/W1989784624","https://openalex.org/W2046247026","https://openalex.org/W2053039860","https://openalex.org/W2071879021","https://openalex.org/W2109093071","https://openalex.org/W2147558260","https://openalex.org/W2154139219","https://openalex.org/W2155690268","https://openalex.org/W2159203162","https://openalex.org/W2183091920","https://openalex.org/W2193324235","https://openalex.org/W2462053388","https://openalex.org/W2474747771","https://openalex.org/W2548932017","https://openalex.org/W2558586574","https://openalex.org/W2604190529","https://openalex.org/W2786693834","https://openalex.org/W2790711259","https://openalex.org/W2899915536","https://openalex.org/W2900569176","https://openalex.org/W2901527454","https://openalex.org/W2915895751","https://openalex.org/W2945310727","https://openalex.org/W2950764390","https://openalex.org/W2953129935","https://openalex.org/W2953304564","https://openalex.org/W2963626623","https://openalex.org/W2980776615","https://openalex.org/W2983166786","https://openalex.org/W3008624855","https://openalex.org/W3047825284","https://openalex.org/W3094762523","https://openalex.org/W3098594741","https://openalex.org/W3106143834","https://openalex.org/W3136484570","https://openalex.org/W3155548469","https://openalex.org/W3164648392","https://openalex.org/W4210290733","https://openalex.org/W4210702584","https://openalex.org/W4233120011","https://openalex.org/W4240689716","https://openalex.org/W6676135976","https://openalex.org/W6769418492"],"related_works":["https://openalex.org/W2748952813","https://openalex.org/W2003932708","https://openalex.org/W1967424056","https://openalex.org/W2284877871","https://openalex.org/W2138102289","https://openalex.org/W868043274","https://openalex.org/W2513523087","https://openalex.org/W1187916458","https://openalex.org/W2373861055","https://openalex.org/W1559716973"],"abstract_inverted_index":{"The":[0,26],"scientific":[1],"knowledge":[2],"about":[3],"which":[4,9,13,71,90,165],"genes":[5],"are":[6,199],"involved":[7],"in":[8,145,197],"diseases":[10],"grows":[11],"rapidly,":[12],"makes":[14,153],"it":[15,216],"difficult":[16],"to":[17,30,42,68,110,114,120,122,136,142],"keep":[18],"up":[19],"with":[20],"new":[21,157],"publications":[22],"and":[23,38,54,126,134,183,191,205],"genetics":[24],"datasets.":[25],"DISEASES":[27,150,174,198],"database":[28],"aims":[29],"provide":[31],"a":[32,65,137,156,202,209],"comprehensive":[33],"overview":[34],"by":[35,93,162],"systematically":[36],"integrating":[37],"assigning":[39],"confidence":[40,99],"scores":[41],"evidence":[43],"for":[44,86,130],"disease-gene":[45,172],"associations":[46,77],"from":[47,78,214],"curated":[48],"databases,":[49],"genome-wide":[50],"association":[51],"studies":[52],"(GWAS)":[53],"automatic":[55],"text":[56,116],"mining":[57],"of":[58,76,147,155,170],"the":[59,74,87,115,124,143,168,192],"biomedical":[60],"literature.":[61],"Here,":[62],"we":[63],"present":[64],"major":[66],"update":[67],"this":[69,104],"resource,":[70],"greatly":[72],"increases":[73],"number":[75,146,169],"all":[79,98],"these":[80],"sources.":[81],"This":[82],"is":[83,107,176,206],"especially":[84],"true":[85],"text-mined":[88],"associations,":[89],"have":[91],"increased":[92,167],"at":[94,97,212],"least":[95],"9-fold":[96],"cutoffs.":[100],"We":[101],"show":[102],"that":[103],"dramatic":[105],"increase":[106],"primarily":[108],"due":[109,119,141],"adding":[111],"full-text":[112],"articles":[113],"corpus,":[117],"secondarily":[118],"improvements":[121],"both":[123],"disease":[125],"gene":[127],"dictionaries":[128],"used":[129],"named":[131],"entity":[132],"recognition,":[133],"only":[135],"very":[138],"small":[139],"extent":[140],"growth":[144],"PubMed":[148],"abstracts.":[149],"now":[151],"also":[152,177,218],"use":[154],"GWAS":[158,163],"database,":[159],"Target":[160],"Illumination":[161],"Analytics,":[164],"considerably":[166],"GWAS-derived":[171],"associations.":[173],"itself":[175],"integrated":[178],"into":[179],"several":[180],"other":[181],"databases":[182],"resources,":[184],"including":[185],"GeneCards/MalaCards,":[186],"Pharos/Target":[187],"Central":[188],"Resource":[189],"Database":[190,224],"Cytoscape":[193],"stringApp.":[194],"All":[195],"data":[196],"updated":[200],"on":[201],"weekly":[203],"basis":[204],"available":[207],"via":[208],"web":[210],"interface":[211],"https://diseases.jensenlab.org,":[213],"where":[215],"can":[217],"be":[219],"downloaded":[220],"under":[221],"open":[222],"licenses.":[223],"URL:":[225],"https://diseases.jensenlab.org.":[226]},"counts_by_year":[{"year":2026,"cited_by_count":12},{"year":2025,"cited_by_count":48},{"year":2024,"cited_by_count":39},{"year":2023,"cited_by_count":19},{"year":2022,"cited_by_count":9}],"updated_date":"2026-04-11T08:14:18.477133","created_date":"2025-10-10T00:00:00"}