{"id":"https://openalex.org/W2113239992","doi":"https://doi.org/10.1093/nar/gkr1171","title":"SpliceDisease database: linking RNA splicing and disease","display_name":"SpliceDisease database: linking RNA splicing and disease","publication_year":2011,"publication_date":"2011-12-01","ids":{"openalex":"https://openalex.org/W2113239992","doi":"https://doi.org/10.1093/nar/gkr1171","mag":"2113239992","pmid":"https://pubmed.ncbi.nlm.nih.gov/22139928"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkr1171","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkr1171","pdf_url":"https://academic.oup.com/nar/article-pdf/40/D1/D1055/9480464/gkr1171.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","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/nar/article-pdf/40/D1/D1055/9480464/gkr1171.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100370460","display_name":"Jian Wang","orcid":"https://orcid.org/0000-0002-5335-8845"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"J. Wang","raw_affiliation_strings":["Department of Biomedical Informatics, Peking University Health Science Center, MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191, China. wjuan@hsc.pku.edu.cn","Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Peking University Health Science Center, MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191, China. wjuan@hsc.pku.edu.cn","institution_ids":["https://openalex.org/I20231570"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China","institution_ids":["https://openalex.org/I20231570"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100436742","display_name":"Jie Zhang","orcid":"https://orcid.org/0000-0002-4322-9118"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]},{"id":"https://openalex.org/I4210099020","display_name":"Beijing Biocytogen (China)","ror":"https://ror.org/01spyyb53","country_code":"CN","type":"company","lineage":["https://openalex.org/I4210099020"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"J. Zhang","raw_affiliation_strings":["Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China","Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China","institution_ids":["https://openalex.org/I4210099020"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China","institution_ids":["https://openalex.org/I20231570"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046930369","display_name":"K. Li","orcid":"https://orcid.org/0000-0002-2322-6649"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"K. Li","raw_affiliation_strings":["Department of Biomedical Informatics, Peking University Health Science Center,","Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Peking University Health Science Center,","institution_ids":["https://openalex.org/I20231570"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China","institution_ids":["https://openalex.org/I20231570"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101939249","display_name":"Wei Zhao","orcid":"https://orcid.org/0000-0002-7130-7670"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"W. Zhao","raw_affiliation_strings":["MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and","Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and","institution_ids":["https://openalex.org/I20231570"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China","institution_ids":["https://openalex.org/I20231570"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027886490","display_name":"Qinghua Cui","orcid":"https://orcid.org/0000-0003-3018-5221"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Q. Cui","raw_affiliation_strings":["Department of Biomedical Informatics, Peking University Health Science Center,","MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and","Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Peking University Health Science Center,","institution_ids":["https://openalex.org/I20231570"]},{"raw_affiliation_string":"MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and","institution_ids":["https://openalex.org/I20231570"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Peking University Health Science Center, 2MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191 and 3Beijing Fang Yuan Teng DA Technology Co. Ltd., Beijing 100083, China","institution_ids":["https://openalex.org/I20231570"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":2.0984,"has_fulltext":true,"cited_by_count":57,"citation_normalized_percentile":{"value":0.87229407,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"40","issue":"D1","first_page":"D1055","last_page":"D1059"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":1.0,"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/T10604","display_name":"RNA Research and Splicing","score":1.0,"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/T11482","display_name":"RNA modifications and cancer","score":1.0,"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/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9991000294685364,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/rna-splicing","display_name":"RNA splicing","score":0.8512685298919678},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.797499418258667},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6950374841690063},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.6486217379570007},{"id":"https://openalex.org/keywords/genome-browser","display_name":"Genome browser","score":0.5816985368728638},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5375093817710876},{"id":"https://openalex.org/keywords/rna","display_name":"RNA","score":0.5216484665870667},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.45863258838653564},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.4568541646003723},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.4456779658794403},{"id":"https://openalex.org/keywords/alternative-splicing","display_name":"Alternative splicing","score":0.43966910243034363},{"id":"https://openalex.org/keywords/gene-annotation","display_name":"Gene Annotation","score":0.41632241010665894},{"id":"https://openalex.org/keywords/exon","display_name":"Exon","score":0.3349141478538513},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.28670448064804077},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.05953395366668701}],"concepts":[{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.8512685298919678},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.797499418258667},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6950374841690063},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6486217379570007},{"id":"https://openalex.org/C2781148417","wikidata":"https://www.wikidata.org/wiki/Q5533486","display_name":"Genome browser","level":5,"score":0.5816985368728638},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5375093817710876},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.5216484665870667},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.45863258838653564},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4568541646003723},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.4456779658794403},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.43966910243034363},{"id":"https://openalex.org/C2908923196","wikidata":"https://www.wikidata.org/wiki/Q5205742","display_name":"Gene Annotation","level":4,"score":0.41632241010665894},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.3349141478538513},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.28670448064804077},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.05953395366668701}],"mesh":[{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/nar/gkr1171","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkr1171","pdf_url":"https://academic.oup.com/nar/article-pdf/40/D1/D1055/9480464/gkr1171.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:22139928","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22139928","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":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:open-archive.highwire.org:nar:40/D1/D1055","is_oa":false,"landing_page_url":"http://nar.oxfordjournals.org/cgi/content/short/40/D1/D1055","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"},{"id":"pmh:oai:pubmedcentral.nih.gov:3245055","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3245055","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Res","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/nar/gkr1171","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkr1171","pdf_url":"https://academic.oup.com/nar/article-pdf/40/D1/D1055/9480464/gkr1171.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G3715000748","display_name":null,"funder_award_id":"81001481","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2113239992.pdf","grobid_xml":"https://content.openalex.org/works/W2113239992.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W1481278428","https://openalex.org/W1889233841","https://openalex.org/W1966647233","https://openalex.org/W1977216890","https://openalex.org/W1979262621","https://openalex.org/W1988971922","https://openalex.org/W1990210083","https://openalex.org/W2003187705","https://openalex.org/W2012284471","https://openalex.org/W2013340095","https://openalex.org/W2013834447","https://openalex.org/W2020620545","https://openalex.org/W2045131720","https://openalex.org/W2049485068","https://openalex.org/W2068125297","https://openalex.org/W2074238193","https://openalex.org/W2075675982","https://openalex.org/W2077689651","https://openalex.org/W2093253451","https://openalex.org/W2096940705","https://openalex.org/W2101199515","https://openalex.org/W2104565621","https://openalex.org/W2109458623","https://openalex.org/W2112067162","https://openalex.org/W2112544645","https://openalex.org/W2113525941","https://openalex.org/W2119338364","https://openalex.org/W2120550813","https://openalex.org/W2132123037","https://openalex.org/W2143176671","https://openalex.org/W2155804510","https://openalex.org/W2157223471","https://openalex.org/W2169685494","https://openalex.org/W2169760054","https://openalex.org/W4210267605","https://openalex.org/W4248242635"],"related_works":["https://openalex.org/W2130439870","https://openalex.org/W2800537687","https://openalex.org/W178291922","https://openalex.org/W2147652847","https://openalex.org/W1976843764","https://openalex.org/W2000278701","https://openalex.org/W3215633333","https://openalex.org/W4225318404","https://openalex.org/W2349910028","https://openalex.org/W2151954452"],"abstract_inverted_index":{"RNA":[0,14,66,79],"splicing":[1,35,53,67,80,94,147],"is":[2,15],"an":[3],"important":[4],"aspect":[5],"of":[6,13,28,120,128,155,181,188],"gene":[7,145],"regulation":[8],"in":[9,33,47,51,109,123,195,209],"many":[10],"organisms.":[11],"Splicing":[12],"regulated":[16],"by":[17],"complicated":[18],"mechanisms":[19],"involving":[20,98],"numerous":[21],"RNA-binding":[22],"proteins":[23,40],"and":[24,68,101,138,149,158,160,168,175,205],"the":[25,78,118,121,124,126,129,132,134,142,153,156,179,182,189,192,196,207],"intricate":[26],"network":[27],"interactions":[29],"among":[30,144],"them.":[31],"Mutations":[32],"cis-acting":[34],"elements":[36],"or":[37],"its":[38,83],"regulatory":[39],"have":[41,55,105],"been":[42,106],"shown":[43],"to":[44,85,166,191],"be":[45,72],"involved":[46],"human":[48],"diseases.":[49,150],"Defects":[50],"pre-mRNA":[52],"process":[54],"emerged":[56],"as":[57],"a":[58,63],"common":[59],"disease-causing":[60],"mechanism.":[61],"Therefore,":[62],"database":[64,114],"integrating":[65],"disease":[69,96],"associations":[70],"would":[71],"helpful":[73],"for":[74,141,163,172],"understanding":[75],"not":[76],"only":[77],"but":[81],"also":[82],"contribution":[84],"disease.":[86],"In":[87],"SpliceDisease":[88,113,210],"database,":[89],"we":[90,184],"manually":[91],"curated":[92],"2337":[93],"mutation":[95,130],"entries":[97],"303":[99],"genes":[100,159,165],"370":[102],"diseases,":[103],"which":[104],"supported":[107],"experimentally":[108],"898":[110],"publications.":[111],"The":[112,199],"provides":[115],"information":[116],"including":[117],"change":[119],"nucleotide":[122],"sequence,":[125],"location":[127,180],"on":[131],"gene,":[133],"reference":[135],"Pubmed":[136],"ID":[137],"detailed":[139],"description":[140],"relationship":[143],"mutations,":[146],"defects":[148],"We":[151],"standardized":[152],"names":[154],"diseases":[157],"provided":[161],"links":[162,187],"these":[164],"NCBI":[167],"UCSC":[169],"genome":[170,197],"browser":[171],"further":[173],"annotation":[174],"genomic":[176],"sequences.":[177],"For":[178],"mutation,":[183],"give":[185],"direct":[186],"entry":[190],"respective":[193],"position/region":[194],"browser.":[198],"users":[200],"can":[201],"freely":[202],"browse,":[203],"search":[204],"download":[206],"data":[208],"at":[211],"http://cmbi.bjmu.edu.cn/sdisease.":[212]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":5},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":6}],"updated_date":"2026-01-13T01:12:25.745995","created_date":"2025-10-10T00:00:00"}
