{"id":"https://openalex.org/W2124015834","doi":"https://doi.org/10.1093/database/bau047","title":"'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration","display_name":"'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration","publication_year":2014,"publication_date":"2014-06-17","ids":{"openalex":"https://openalex.org/W2124015834","doi":"https://doi.org/10.1093/database/bau047","mag":"2124015834","pmid":"https://pubmed.ncbi.nlm.nih.gov/24939193"},"language":"en","primary_location":{"id":"doi:10.1093/database/bau047","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/bau047","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/bau047/8245939/bau047.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/bau047/8245939/bau047.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"X. Ran","orcid":null},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210086973","display_name":"Affiliated Eye Hospital of Wenzhou Medical College","ror":"https://ror.org/000sxmx78","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210086973"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"X. Ran","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","Wenzhou Medical University, Wenzhou, China"],"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","institution_ids":["https://openalex.org/I27781120","https://openalex.org/I4210086973"]},{"raw_affiliation_string":"Wenzhou Medical University, Wenzhou, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067689140","display_name":"W.-J. Cai","orcid":null},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210086973","display_name":"Affiliated Eye Hospital of Wenzhou Medical College","ror":"https://ror.org/000sxmx78","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210086973"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"W.-J. Cai","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","Wenzhou Medical University, Wenzhou, China"],"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","institution_ids":["https://openalex.org/I27781120","https://openalex.org/I4210086973"]},{"raw_affiliation_string":"Wenzhou Medical University, Wenzhou, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088437190","display_name":"Xiu\u2010Feng Huang","orcid":"https://orcid.org/0000-0002-7852-6358"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210086973","display_name":"Affiliated Eye Hospital of Wenzhou Medical College","ror":"https://ror.org/000sxmx78","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210086973"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"X.-F. Huang","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","Wenzhou Medical University, Wenzhou, China"],"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","institution_ids":["https://openalex.org/I27781120","https://openalex.org/I4210086973"]},{"raw_affiliation_string":"Wenzhou Medical University, Wenzhou, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046838693","display_name":"Q. Liu","orcid":null},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210086973","display_name":"Affiliated Eye Hospital of Wenzhou Medical College","ror":"https://ror.org/000sxmx78","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210086973"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Q. Liu","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","Wenzhou Medical University, Wenzhou, China"],"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","institution_ids":["https://openalex.org/I27781120","https://openalex.org/I4210086973"]},{"raw_affiliation_string":"Wenzhou Medical University, Wenzhou, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100371053","display_name":"Fan L\u00fc","orcid":"https://orcid.org/0000-0003-0846-147X"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210086973","display_name":"Affiliated Eye Hospital of Wenzhou Medical College","ror":"https://ror.org/000sxmx78","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210086973"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"F. Lu","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","Wenzhou Medical University, Wenzhou, China"],"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","institution_ids":["https://openalex.org/I27781120","https://openalex.org/I4210086973"]},{"raw_affiliation_string":"Wenzhou Medical University, Wenzhou, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109569664","display_name":"Jia Qu","orcid":null},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210086973","display_name":"Affiliated Eye Hospital of Wenzhou Medical College","ror":"https://ror.org/000sxmx78","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210086973"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"J. Qu","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","Wenzhou Medical University, Wenzhou, China"],"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","institution_ids":["https://openalex.org/I27781120","https://openalex.org/I4210086973"]},{"raw_affiliation_string":"Wenzhou Medical University, Wenzhou, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066861943","display_name":"Jianmin Wu","orcid":"https://orcid.org/0000-0002-8223-1667"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210086973","display_name":"Affiliated Eye Hospital of Wenzhou Medical College","ror":"https://ror.org/000sxmx78","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210086973"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"J. Wu","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","Wenzhou Medical University, Wenzhou, China"],"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China","institution_ids":["https://openalex.org/I27781120","https://openalex.org/I4210086973"]},{"raw_affiliation_string":"Wenzhou Medical University, Wenzhou, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075611280","display_name":"Zi\u2010Bing Jin","orcid":"https://orcid.org/0000-0003-0515-698X"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210086973","display_name":"Affiliated Eye Hospital of Wenzhou Medical College","ror":"https://ror.org/000sxmx78","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210086973"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Z.-B. Jin","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China jinzb@mail.eye.ac.cn jinzibing@foxmail.com","Wenzhou Medical University, Wenzhou, China"],"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China jinzb@mail.eye.ac.cn jinzibing@foxmail.com","institution_ids":["https://openalex.org/I27781120","https://openalex.org/I4210086973"]},{"raw_affiliation_string":"Wenzhou Medical University, Wenzhou, China","institution_ids":["https://openalex.org/I27781120"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I27781120","https://openalex.org/I4210086973"],"apc_list":{"value":1415,"currency":"GBP","value_usd":1735},"apc_paid":{"value":1415,"currency":"GBP","value_usd":1735},"fwci":2.9949,"has_fulltext":false,"cited_by_count":66,"citation_normalized_percentile":{"value":0.91865548,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"2014","issue":"0","first_page":"bau047","last_page":"bau047"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9987000226974487,"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/T10691","display_name":"Retinal Development and Disorders","score":0.9987000226974487,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9939000010490417,"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"}},{"id":"https://openalex.org/T11041","display_name":"Ubiquitin and proteasome pathways","score":0.9890999794006348,"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/gene","display_name":"Gene","score":0.683216392993927},{"id":"https://openalex.org/keywords/kegg","display_name":"KEGG","score":0.6096249222755432},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5803532004356384},{"id":"https://openalex.org/keywords/gene-ontology","display_name":"Gene ontology","score":0.5656591653823853},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.550317108631134},{"id":"https://openalex.org/keywords/blindness","display_name":"Blindness","score":0.5307115316390991},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.5074898600578308},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4875568747520447},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.10006573796272278}],"concepts":[{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.683216392993927},{"id":"https://openalex.org/C152724338","wikidata":"https://www.wikidata.org/wiki/Q909442","display_name":"KEGG","level":5,"score":0.6096249222755432},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5803532004356384},{"id":"https://openalex.org/C2987395477","wikidata":"https://www.wikidata.org/wiki/Q135085","display_name":"Gene ontology","level":4,"score":0.5656591653823853},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.550317108631134},{"id":"https://openalex.org/C2780929884","wikidata":"https://www.wikidata.org/wiki/Q737460","display_name":"Blindness","level":2,"score":0.5307115316390991},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5074898600578308},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4875568747520447},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.10006573796272278},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.0},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053263","descriptor_name":"Gene Regulatory Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053263","descriptor_name":"Gene Regulatory Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053263","descriptor_name":"Gene Regulatory Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/database/bau047","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/bau047","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/bau047/8245939/bau047.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:24939193","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24939193","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:4060621","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4060621","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":"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"}],"best_oa_location":{"id":"doi:10.1093/database/bau047","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/bau047","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/bau047/8245939/bau047.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":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2124015834.pdf","grobid_xml":"https://content.openalex.org/works/W2124015834.grobid-xml"},"referenced_works_count":32,"referenced_works":["https://openalex.org/W6854544","https://openalex.org/W1503104403","https://openalex.org/W1869848680","https://openalex.org/W1980548655","https://openalex.org/W1980643354","https://openalex.org/W1984017781","https://openalex.org/W1984068087","https://openalex.org/W1996485763","https://openalex.org/W2005439134","https://openalex.org/W2010748058","https://openalex.org/W2019292738","https://openalex.org/W2028178300","https://openalex.org/W2030196241","https://openalex.org/W2047612588","https://openalex.org/W2068918824","https://openalex.org/W2095170451","https://openalex.org/W2096791516","https://openalex.org/W2100648176","https://openalex.org/W2103376319","https://openalex.org/W2114691053","https://openalex.org/W2119412782","https://openalex.org/W2121085475","https://openalex.org/W2122732537","https://openalex.org/W2124110971","https://openalex.org/W2127640118","https://openalex.org/W2140568375","https://openalex.org/W2151533904","https://openalex.org/W2152652629","https://openalex.org/W2153032620","https://openalex.org/W2163330778","https://openalex.org/W2314642451","https://openalex.org/W2314845028"],"related_works":["https://openalex.org/W2551839783","https://openalex.org/W4386401670","https://openalex.org/W2956207900","https://openalex.org/W2790781282","https://openalex.org/W2334025507","https://openalex.org/W4313887725","https://openalex.org/W4296124993","https://openalex.org/W2939010697","https://openalex.org/W1970486251","https://openalex.org/W4229451835"],"abstract_inverted_index":{"Inherited":[0],"retinal":[1],"degeneration":[2],"(IRD),":[3],"a":[4,57,138],"leading":[5],"cause":[6],"of":[7,49,95,146],"human":[8],"blindness":[9],"worldwide,":[10],"is":[11,151],"exceptionally":[12],"heterogeneous":[13],"with":[14,45,82,86],"clinical":[15],"heterogeneity":[16],"and":[17,34,70,92,118,130,155],"genetic":[18,144,160],"variety.":[19],"During":[20],"the":[21,31,46,124,143],"past":[22],"decades,":[23],"tremendous":[24],"efforts":[25],"have":[26,37],"been":[27,38],"made":[28],"to":[29,103],"explore":[30],"complex":[32],"heterogeneity,":[33],"massive":[35],"mutations":[36,71,78],"identified":[39],"in":[40,79],"different":[41],"genes":[42,69],"underlying":[43],"IRD":[44],"significant":[47],"advancement":[48],"sequencing":[50],"technology.":[51],"In":[52],"this":[53],"study,":[54],"we":[55],"developed":[56],"comprehensive":[58],"database,":[59],"'RetinoGenetics',":[60],"which":[61],"contains":[62,76],"informative":[63,154],"knowledge":[64],"about":[65],"all":[66],"known":[67],"IRD-related":[68,159],"for":[72,141,158],"IRD.":[73,147],"'RetinoGenetics'":[74,134,150],"currently":[75],"4270":[77],"186":[80],"genes,":[81],"detailed":[83],"information":[84],"associated":[85],"164":[87],"phenotypes":[88],"from":[89],"934":[90],"publications":[91],"various":[93,107],"types":[94],"functional":[96],"annotations.":[97],"Then":[98],"extensive":[99],"annotations":[100,117],"were":[101],"performed":[102],"each":[104],"gene":[105],"using":[106,123],"resources,":[108],"including":[109],"Gene":[110],"Ontology,":[111],"KEGG":[112],"pathways,":[113],"protein-protein":[114],"interaction,":[115],"mutational":[116],"gene-disease":[119],"network.":[120],"Furthermore,":[121],"by":[122],"search":[125],"functions,":[126],"convenient":[127],"browsing":[128],"ways":[129],"intuitive":[131],"graphical":[132],"displays,":[133],"could":[135],"serve":[136],"as":[137],"valuable":[139],"resource":[140,157],"unveiling":[142],"basis":[145],"Taken":[148],"together,":[149],"an":[152],"integrative,":[153],"updatable":[156],"predispositions.":[161],"Database":[162],"URL:":[163],"http://www.retinogenetics.org/.":[164]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":11},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":2}],"updated_date":"2026-04-21T08:09:41.155169","created_date":"2025-10-10T00:00:00"}
