HCLSIG/Pharmacogenomics/Data Sources

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Linked Open Data

  • Bio2RDF : PharmGKB, OMIM, DrugBank, NCBI Gene, PubMed
  • DailyMed - Structured Product Label (SPL)
  • PGx labelled FDA approved drugs

Gene and Gene Variation

  • dbSNP - Single Nucleotide Polymorphism database
  • NCBI Gene - Integrative resource for genes, variants and phenotypes
  • HVP - Human Variome Project
  • LOVD Leiden Open Variation Database
  • COSMIC - Catalogue of Somatic Mutations in Cancer
  • clinvar


  • DrugBank - DrugBank (drugs, formulations, targets, interactions)
  • CTD - Comparative Toxicogenomics Database (genes, chemicals, diseases, phenotypes)


  • dbGaP- Database of Genotypes and Phenotypes
  • PhenGenI - Phenotype-Genotype Integrator (PheGenI), merges NHGRI genome-wide association study (GWAS) catalog data with Gene, dbGaP, OMIM, GTEx and dbSNP
  • OMIM - Online Mendelian Inheritance in Man
  • PhenCode - human genotype and phenotype
  • Model Organisms - mouse, rat, worm, fly, yeast, slime mold


  • SIDER - Drug side effects + frequency
  • RxNORM


  • DrugBank
  • AERS signal detection


  • Variation Ontology (VariO)
  • Mutation Impact Ontology (MIO)
  • Sequence Ontology (SO)
  • Semanticscience Integrated Ontology (SIO)
  • Clinical Decision Support (CDS) ontology