]> Ontology for pharmacogenomics knowledge representation. http://dumontierlab.com Michel Dumontier 2.0 en pharmacogenomics ontology (primitive) Tell us what diseases a particular gene may play a part in. Used to relate individual element involved in a drug, gene, disease and outcome interaction. Relates a disease to what genes might play a part in its development. Relates an outcome to a particular interaction of some gene, drug and disease. Used to relate a particular gene, drug or disease involved in an interaction together. Relates a gene to its variants. database source A database as a source of information. decreased disease susceptibility with gene decreased drug metabolism by gene Drug metabolism that is decreased involving a gene. decreased gene expression by drug Gene expression that is decreased involving a drug. disease An interruption, cessation, or disorder of body functions, systems, or organs. dose recommendation The recommended dose for a given drug drug A substance that modifies a biological process. drug gene interaction An interaction between a drug and a gene/gene product. drug induced side effect A drug interaction that results in a side effect. An interaction involving a drug. drug interaction drug metabolism by gene Drug metabolism that includes a specific gene. drug modified gene expression Changes in gene expression involving a drug. drug treatment The use of a drug for treating some condition. fatal drug induced side effect gene A region of DNA that is transcribed. gene disease interaction gene variant A gene related to another that exhibits mutational differences. increased disease susceptibility with gene increased drug metabolism by gene Drug metabolism that is increased by a particular gene. increased gene expression by drug Gene expression that is increased involving a drug. interaction intronic gene variant A gene variant in which the mutation occurs in an intron. intronic single nucleotide polymorphism record mild drug induced side effect moderate drug induced side effect non-synonymous gene variant A gene variant in which the mutation results in an amino acid mutation in the protein product. pathway A sequence of molecular interactions leading to some outcome. personalized dose recommendation The recommended dose of a drug given a specific allele phenotype An observable characteristic. publication A published work. severe drug induced side effect single nucleotide polymorphism A variation in a nucleotide position. single nucleotide polymorphism record A record containing single nucleotide polymorphism information - allelic frequencies, position, gene. start codon gene variant A gene variant in which a mutation occurs in the start codon of a protein product. start codon single nucleotide polymorphism record synonymous gene variant A gene variant in which the mutation has no mutational effect on the protein product. synonymous single nucleotide polymorphism record