{"id":"https://openalex.org/W2985183405","doi":"https://doi.org/10.1093/database/baz112","title":"RareLSD: a manually curated database of lysosomal enzymes associated with rare diseases","display_name":"RareLSD: a manually curated database of lysosomal enzymes associated with rare diseases","publication_year":2019,"publication_date":"2019-01-01","ids":{"openalex":"https://openalex.org/W2985183405","doi":"https://doi.org/10.1093/database/baz112","mag":"2985183405","pmid":"https://pubmed.ncbi.nlm.nih.gov/31688938"},"language":"en","primary_location":{"id":"doi:10.1093/database/baz112","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baz112","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baz112/30350841/baz112.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","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baz112/30350841/baz112.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5107881940","display_name":"Sana Akhter","orcid":null},"institutions":[{"id":"https://openalex.org/I119939252","display_name":"Indraprastha Institute of Information Technology Delhi","ror":"https://ror.org/03vfp4g33","country_code":"IN","type":"education","lineage":["https://openalex.org/I119939252"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sana Akhter","raw_affiliation_strings":["Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India","institution_ids":["https://openalex.org/I119939252"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058863845","display_name":"Harpreet Kaur","orcid":"https://orcid.org/0000-0003-0421-8341"},"institutions":[{"id":"https://openalex.org/I119939252","display_name":"Indraprastha Institute of Information Technology Delhi","ror":"https://ror.org/03vfp4g33","country_code":"IN","type":"education","lineage":["https://openalex.org/I119939252"]},{"id":"https://openalex.org/I4210147764","display_name":"Institute of Microbial Technology","ror":"https://ror.org/055rjs771","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I4210147764","https://openalex.org/I66760702"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Harpreet Kaur","raw_affiliation_strings":["CSIR-Institute of Microbial Technology, Chandigarh 160036, India","Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CSIR-Institute of Microbial Technology, Chandigarh 160036, India","institution_ids":["https://openalex.org/I4210147764"]},{"raw_affiliation_string":"Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India","institution_ids":["https://openalex.org/I119939252"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026957605","display_name":"Piyush Agrawal","orcid":"https://orcid.org/0000-0003-2075-1111"},"institutions":[{"id":"https://openalex.org/I119939252","display_name":"Indraprastha Institute of Information Technology Delhi","ror":"https://ror.org/03vfp4g33","country_code":"IN","type":"education","lineage":["https://openalex.org/I119939252"]},{"id":"https://openalex.org/I4210147764","display_name":"Institute of Microbial Technology","ror":"https://ror.org/055rjs771","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210134808","https://openalex.org/I4210147764","https://openalex.org/I66760702"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Piyush Agrawal","raw_affiliation_strings":["CSIR-Institute of Microbial Technology, Chandigarh 160036, India","Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CSIR-Institute of Microbial Technology, Chandigarh 160036, India","institution_ids":["https://openalex.org/I4210147764"]},{"raw_affiliation_string":"Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India","institution_ids":["https://openalex.org/I119939252"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051938893","display_name":"Gajendra P. S. Raghava","orcid":"https://orcid.org/0000-0002-8902-2876"},"institutions":[{"id":"https://openalex.org/I119939252","display_name":"Indraprastha Institute of Information Technology Delhi","ror":"https://ror.org/03vfp4g33","country_code":"IN","type":"education","lineage":["https://openalex.org/I119939252"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Gajendra P S Raghava","raw_affiliation_strings":["Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India"],"raw_orcid":"https://orcid.org/0000-0002-8902-2876","affiliations":[{"raw_affiliation_string":"Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India","institution_ids":["https://openalex.org/I119939252"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5051938893"],"corresponding_institution_ids":["https://openalex.org/I119939252"],"apc_list":{"value":1415,"currency":"GBP","value_usd":1735},"apc_paid":{"value":1415,"currency":"GBP","value_usd":1735},"fwci":0.5172,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.68224142,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":95},"biblio":{"volume":"2019","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994000196456909,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994000196456909,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10617","display_name":"Cellular transport and secretion","score":0.9847000241279602,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T13415","display_name":"Calcium signaling and nucleotide metabolism","score":0.9523000121116638,"subfield":{"id":"https://openalex.org/subfields/1314","display_name":"Physiology"},"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/pubchem","display_name":"PubChem","score":0.8845652341842651},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5155336856842041},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.4356609582901001},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3950127065181732},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.3439616560935974},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.3425251245498657},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.32466644048690796},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.3013727068901062}],"concepts":[{"id":"https://openalex.org/C158180186","wikidata":"https://www.wikidata.org/wiki/Q278487","display_name":"PubChem","level":2,"score":0.8845652341842651},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5155336856842041},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.4356609582901001},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3950127065181732},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.3439616560935974},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3425251245498657},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.32466644048690796},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3013727068901062}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","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":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030562","descriptor_name":"Databases, Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030562","descriptor_name":"Databases, Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030562","descriptor_name":"Databases, Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1093/database/baz112","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baz112","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baz112/30350841/baz112.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:31688938","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31688938","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:doi:10.5281/zenodo.20079095","is_oa":true,"landing_page_url":"https://github.com/sudhanshus-hash/RareLSD/tree/v1","pdf_url":null,"source":{"id":"https://openalex.org/S4406922384","display_name":"Open MIND","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":null,"raw_type":"Dataset"},{"id":"pmh:oai:pubmedcentral.nih.gov:6830269","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6830269","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"},{"id":"doi:10.5281/zenodo.20079095","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.20079095","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":"Dataset"},{"id":"doi:10.5281/zenodo.20079096","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.20079096","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":"Dataset"}],"best_oa_location":{"id":"doi:10.1093/database/baz112","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baz112","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baz112/30350841/baz112.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":[{"id":"https://openalex.org/F4320320721","display_name":"Council of Scientific and Industrial Research, India","ror":"https://ror.org/021wm7p51"},{"id":"https://openalex.org/F4320323670","display_name":"Department of Science and Technology, Government of Kerala","ror":"https://ror.org/030fy4q75"},{"id":"https://openalex.org/F4320326656","display_name":"Department of Biotechnology, Government of West Bengal","ror":null}],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2985183405.pdf"},"referenced_works_count":33,"referenced_works":["https://openalex.org/W200419270","https://openalex.org/W1803102843","https://openalex.org/W2009313526","https://openalex.org/W2039165409","https://openalex.org/W2087064593","https://openalex.org/W2093722439","https://openalex.org/W2096131321","https://openalex.org/W2100428244","https://openalex.org/W2125418911","https://openalex.org/W2139826283","https://openalex.org/W2154139219","https://openalex.org/W2157370926","https://openalex.org/W2162151166","https://openalex.org/W2177317049","https://openalex.org/W2320529444","https://openalex.org/W2474593271","https://openalex.org/W2474715863","https://openalex.org/W2474747771","https://openalex.org/W2525933295","https://openalex.org/W2537679995","https://openalex.org/W2558586574","https://openalex.org/W2588291989","https://openalex.org/W2606882994","https://openalex.org/W2613454210","https://openalex.org/W2620998958","https://openalex.org/W2738834161","https://openalex.org/W2769449671","https://openalex.org/W2783701887","https://openalex.org/W2822780850","https://openalex.org/W4210702584","https://openalex.org/W4407840317","https://openalex.org/W6720817139","https://openalex.org/W6728001128"],"related_works":["https://openalex.org/W2104366126","https://openalex.org/W2547231910","https://openalex.org/W2235675062","https://openalex.org/W2177317049","https://openalex.org/W4293208996","https://openalex.org/W2169546341","https://openalex.org/W2127553917","https://openalex.org/W1505362105","https://openalex.org/W2096560421","https://openalex.org/W2008505552"],"abstract_inverted_index":{"RareLSD":[0,125,132],"is":[1,92,133,148],"a":[2,29,108,127],"manually":[3],"curated":[4],"database":[5],"of":[6,17,39,45,71,130,158],"lysosomal":[7,20,72,90],"enzymes":[8,21,85],"associated":[9,24],"with":[10,126,135,156],"rare":[11],"diseases":[12],"that":[13,35,96,153],"maintains":[14],"comprehensive":[15],"information":[16,31,75,79,95],"63":[18],"unique":[19],"and":[22,53,68,121,142,160,164],"93":[23],"disorders.":[25],"Each":[26,89],"entry":[27,91],"provides":[28],"complete":[30],"on":[32,80,150],"the":[33,37,40,117],"disorder":[34],"includes":[36,97],"name":[38],"disease,":[41],"organ":[42],"affected,":[43],"age":[44],"onset,":[46],"available":[47],"drug,":[48],"inheritance":[49,99],"pattern,":[50,100],"defected":[51],"enzyme":[52],"single":[54],"nucleotide":[55],"polymorphism.":[56],"To":[57],"facilitate":[58,116],"users":[59,118],"in":[60,119,124],"designing":[61],"drugs":[62],"against":[63,83],"these":[64],"diseases,":[65],"we":[66],"predicted":[67],"maintained":[69],"structures":[70],"enzymes.":[73],"Our":[74],"portal":[76],"also":[77],"contains":[78],"biochemical":[81],"assays":[82],"disease-associated":[84],"obtained":[86],"from":[87],"PubChem.":[88],"supported":[93],"by":[94],"disorders,":[98],"drugs,":[101],"family":[102],"members,":[103],"active":[104],"inhibitors,":[105],"etc.":[106],"Eventually,":[107],"user-friendly":[109],"web":[110],"interface":[111],"has":[112],"been":[113],"developed":[114],"to":[115],"searching":[120],"browsing":[122],"data":[123],"wide":[128],"range":[129],"options.":[131],"integrated":[134],"sequence":[136],"similarity":[137],"search":[138],"tools":[139],"(e.g.":[140],"BLAST":[141],"Smith-Waterman":[143],"algorithm)":[144],"for":[145],"analysis.":[146],"It":[147],"built":[149],"responsive":[151],"templates":[152],"are":[154],"compatible":[155],"most":[157],"browsers":[159],"screens":[161],"including":[162],"smartphones":[163],"gadgets":[165],"(mobile,":[166],"iPhone,":[167],"iPad,":[168],"tablets,":[169],"etc.).":[170]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1}],"updated_date":"2026-06-19T15:47:20.252518","created_date":"2025-10-10T00:00:00"}