Has anyone used these to investigate response to canagliflozin/rapamycin/other drugs?
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https://www.pharmgkb.org/chemical/PA451365
Compiling genetic variants that alter treatment
We compile genetic variants that alter treatment by using the Pharmacogenomics Knowledgebase (PharmGKB)65. PharmGKB is a gold-standard database mapping the effect of genetic variants on treatments. PharmGKB is manually curated from a range of sources, including the published literature, the Allele Frequency Database, the Anatomical Therapeutic Chemical Classification, ChEBI, ClinicalTrials.gov, dbSNP, DrugBank, the European Medicines Agency, Ensembl, FDA Drug Labels at DailyMed, GeneCard, HC-SC, HGNC, HMDB, HumanCyc Gene, LS-SNP, MedDRA, MeSH, NCBI Gene, NDF-RT, PMDA, PubChem Compound, RxNorm, SnoMed Clinical Terminology, and UniProt KB.
We use PharmGKB’s "Clinical Annotations” which detail how variants at the gene level alter treatments. PharmGKB’s "clinical_ann_metadata.tsv” file provides triplets of drugs, diseases, and genetic variants known to alter treatment. Treatment alteration occurs when a genetic variant alters the efficacy, dosage, metabolism, or pharmacokinetics of treatment or otherwise causes toxicity or an adverse drug reaction. We map genes to their Entrez ID using HUGO, drugs to their DrugBank ID using PharmGKB’s "drugs.tsv” and "chemicals.tsv” files, and diseases to their UMLS CUIDs by using PharmGKB’s "phenotypes.tsv” file. To ensure consistency with the approved drug-disease pairs we previously compiled, we only consider (drug, disease, gene) triplets in which the drug and disease are part of an FDA-approved treatment. Ultimately, we obtain 1,223 drug–disease–gene triplets with 201 drugs, 94 diseases, and 455 genes. All drug–disease–gene triplets are provided in Supplementary Data 9.