{"prefix":"pharmvar","name":"Pharmacogene Variation Consortium","description":"The Pharmacogene Variation (PharmVar) Consortium is the new home for PGx gene nomenclature serving as a centralized ‘Next-Generation’ Pharmacogene Variation data repository.  The major focus of PharmVar is to catalogue allelic variation of genes impacting drug metabolism, disposition and response and provide a unifying designation system (nomenclature) for the global pharmacogenetic/genomic community. Efforts are synchronized between PharmVar, the Pharmacogenomic KnowledgeBase, and the Clinical Pharmacogenetic Implementation Consortium.","uri_format":"https://www.pharmvar.org/gene/$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/pharmvar:$1"}],"homepage":"https://www.pharmvar.org","contact":{"name":"Andrea Gaedigk","orcid":"0000-0001-6968-1893","email":"agaedigk@cmh.edu"},"example":"CYP2A6","example_extras":[],"provides":"hgnc.symbol","deprecated":false,"mappings":{"prefixcommons":"pharmvar"},"synonyms":[],"keywords":["gene","pharmacogenomics","variant"],"publications":[{"pubmed":"29134625","doi":"10.1002/cpt.910","pmc":"PMC5836850","title":"The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database","year":2017}],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"reviewer":{"name":"Charles Tapley Hoyt","orcid":"0000-0003-4423-4370","email":"cthoyt@gmail.com","github":"cthoyt"},"preferred_prefix":"pharmvar"}