appears_in: []
contact:
  email: hgnc@genenames.org
  name: Dr. Elspeth Bruford
depends_on: []
deprecated: false
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.
download_owl: http://aber-owl.net/media/ontologies/HGNC/1/hgnc.owl
example: '16793'
homepage: http://www.genenames.org
mappings:
  aberowl: HGNC
  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
  prefixcommons: hgnc
  uniprot: DB-0042
  wikidata: P354
name: HUGO Gene Nomenclature Committee
namespace_in_lui: false
pattern: ^\d{1,5}$
preferred_prefix: hgnc
prefix: hgnc
providers:
- code: gencc
  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\u2019s G2P),\
    \ as well as diagnostic laboratories that have committed to sharing their internal\
    \ curated gene-level knowledge (e.g. Ambry, Illumina, Invitae, Myriad Women\u2019\
    s Health, Mass General Brigham Laboratory for Molecular Medicine)."
  homepage: https://thegencc.org
  name: The Gene Curation Coalition
  uri_format: https://search.thegencc.org/genes/HGNC:$1
- code: indra
  description: A large scale database of biomedical statements.
  homepage: https://db.indra.bio
  name: INDRA Database
  uri_format: https://db.indra.bio/statements/from_agents?&format=html&agent0=$1@HGNC
publications:
- doi: 10.1093/nar/gkaa980
  pmc: PMC7779007
  pubmed: '33152070'
  title: 'Genenames.org: the HGNC and VGNC resources in 2021.'
  year: 2021
- doi: 10.1093/nar/gky930
  pmc: PMC6324057
  pubmed: '30304474'
  title: 'Genenames.org: the HGNC and VGNC resources in 2019.'
  year: 2019
- doi: 10.1159/000131404
  pubmed: '295268'
  title: International system for human gene nomenclature (1979) ISGN (1979).
  year: 1979
synonyms: []
uri_format: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/$1