{"prefix":"hgnc","name":"HUGO Gene Nomenclature Committee","description":"The HGNC (HUGO Gene Nomenclature Committee) provides an approved gene name and symbol (short-form abbreviation) for each known human gene.  All approved symbols are stored in the HGNC database, and each symbol is unique. HGNC identifiers refer to records in the HGNC symbol database.","pattern":"^\\d{1,5}$","uri_format":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/$1","providers":[{"code":"bio2rdf","name":"Bio2RDF","description":"Bio2RDF is an open-source project that uses Semantic Web technologies to build and provide the largest network of Linked Data for the Life Sciences. Bio2RDF defines a set of simple conventions to create RDF(S) compatible Linked Data from a diverse set of heterogeneously formatted sources obtained from multiple data providers.","homepage":"https://bio2rdf.org","uri_format":"http://bio2rdf.org/hgnc:$1"},{"code":"gencc","name":"The Gene Curation Coalition","description":"The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases. Curated gene-disease relationships are submitted by GenCC member organizations. The GenCC comprises organizations that currently provide online resources (e.g. ClinGen, DECIPHER, Genomics England PanelApp, OMIM, Orphanet, PanelApp Australia, TGMI’s G2P), as well as diagnostic laboratories that have committed to sharing their internal curated gene-level knowledge (e.g. Ambry, Illumina, Invitae, Myriad Women’s Health, Mass General Brigham Laboratory for Molecular Medicine).","homepage":"https://thegencc.org","uri_format":"https://search.thegencc.org/genes/HGNC:$1"},{"code":"indra","name":"INDRA Database","description":"A large scale database of biomedical statements.","homepage":"https://db.indra.bio","uri_format":"https://db.indra.bio/statements/from_agents?&format=html&agent0=$1@HGNC","publications":[{"pubmed":"36938926","doi":"10.15252/msb.202211325","pmc":"PMC10167483","title":"Automated assembly of molecular mechanisms at scale from text mining and curated databases","year":2023},{"pubmed":"29175850","doi":"10.15252/msb.20177651","pmc":"PMC5731347","title":"From word models to executable models of signaling networks using automated assembly","year":2017}]}],"homepage":"http://www.genenames.org","contact":{"name":"Elspeth Bruford","orcid":"0000-0002-8380-5247","email":"elspeth@genenames.org"},"owners":[{"ror":"02catss52","name":"European Bioinformatics Institute"}],"example":"16793","example_extras":[],"license":"CC0-1.0","download_owl":"https://w3id.org/biopragmatics/resources/hgnc/hgnc.owl.gz","download_obo":"https://w3id.org/biopragmatics/resources/hgnc/hgnc.obo","download_json":"https://w3id.org/biopragmatics/resources/hgnc/hgnc.json.gz","deprecated":false,"mappings":{"aberowl":"HGNC","bartoc":"20688","biocontext":"HGNC","bioportal":"HGNC","cellosaurus":"HGNC","edam":"2298","fairsharing":"FAIRsharing.amcv1e","go":"HGNC","hl7":"2.16.840.1.113883.6.281","miriam":"hgnc","n2t":"hgnc","ncbi":"HGNC","ols":"hgnc","prefixcommons":"hgnc","togoid":"Hgnc","uniprot":"DB-0042","wikidata":"P354"},"synonyms":[],"keywords":["classification","gene","gene name","life science","ncrna","ontology","organism-specific databases","protein","pseudogene"],"publications":[{"pubmed":"36938926","doi":"10.15252/msb.202211325","pmc":"PMC10167483","title":"Automated assembly of molecular mechanisms at scale from text mining and curated databases","year":2023},{"pubmed":"33152070","doi":"10.1093/nar/gkaa980","pmc":"PMC7779007","title":"Genenames.org: the HGNC and VGNC resources in 2021","year":2021},{"pubmed":"30304474","doi":"10.1093/nar/gky930","pmc":"PMC6324057","title":"Genenames.org: the HGNC and VGNC resources in 2019","year":2019},{"pubmed":"295268","doi":"10.1159/000131404","title":"International system for human gene nomenclature (1979) ISGN (1979)","year":1979},{"pubmed":"29175850","doi":"10.15252/msb.20177651","pmc":"PMC5731347","title":"From word models to executable models of signaling networks using automated assembly","year":2017}],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"preferred_prefix":"hgnc","logo":"https://www.genenames.org/img/hgnc/logo/hgnc-logo-dark-bckgrnd-large.svg"}