{"prefix":"pharmgkb.disease","name":"PharmGKB Disease","description":"The PharmGKB database is a central repository for genetic, genomic, molecular and cellular phenotype data and clinical information about people who have participated in pharmacogenomics research studies. The data includes, but is not limited to, clinical and basic pharmacokinetic and pharmacogenomic research in the cardiovascular, pulmonary, cancer, pathways, metabolic and transporter domains.","pattern":"^PA\\d+$","uri_format":"http://www.pharmgkb.org/disease/$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/pharmgkb.disease:$1"}],"homepage":"http://www.pharmgkb.org/","contact":{"name":"Teri E Klein","orcid":"0000-0001-5527-6475","email":"teri.klein@stanford.edu","github":"TeriKlein"},"example":"PA447218","example_extras":[],"license":"CC-BY-SA-4.0","part_of":"pharmgkb","download_owl":"https://w3id.org/biopragmatics/resources/pharmgkb.disease/pharmgkb.disease.owl","download_obo":"https://w3id.org/biopragmatics/resources/pharmgkb.disease/pharmgkb.disease.obo","download_json":"https://w3id.org/biopragmatics/resources/pharmgkb.disease/pharmgkb.disease.json","deprecated":false,"mappings":{"biocontext":"PHARMGKB.DISEASE","biolink":"PHARMGKB.DISEASE","edam":"2651","miriam":"pharmgkb.disease","n2t":"pharmgkb.disease","prefixcommons":"pharmgkb.disease"},"synonyms":[],"keywords":["ontology","pharmacogenomics"],"publications":[{"pubmed":"22103613","doi":"10.2217/bmm.11.94","pmc":"PMC3339046","title":"From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource","year":2011},{"pubmed":"11908751","doi":"10.1038/sj.tpj.6500035","title":"Integrating genotype and phenotype information: an overview of the PharmGKB project. Pharmacogenetics Research Network and Knowledge Base","year":2001}],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"preferred_prefix":"pharmgkb.disease","logo":"https://rxgenomix.com/wp-content/uploads/2019/10/pharmgKB.png"}