Table 2.
Primary classes and the corresponding data sources
Classes | Primary data resources | Abbreviations used in this study |
---|---|---|
Condition and Designated |
• Inxight Drugs • FDA Orphan Drug Designations |
• S_RANCHO-DISEASE-DRUG_2018-12-18_13–30 • S_FDAORPHANGARD_20190216 |
Rare Diseases and 32 different rare disease categories from GARD |
• GARD • MONDO • Orphanet • OMIM |
• S_GARD • S_MONDO • S_ORDO • S_OMIM |
Human Phenotype |
• HPO • Phenotype And Trait Ontology • Mammalian Phenotype Ontology |
• S_HPO • S_PATO • S_MP |
Drug |
• Inxight Drugs • FDA Orphan Drug Designations • VA National Drug File (VANDF)a • MeSHa |
• S_RANCHO-DISEASE-DRUG_2018-12-18_13–30 • S_FDAORPHANGARD_20190216 • S_VANDF • S_MESH |
Chemical |
• ChEBI • Thesaurusa |
• S_CHEBI • S_THESAURUS |
Gene |
• GHR • Ontology of Genes and Genomes • MedGena • Thesaurusa |
• S_GHR • S_OGG • S_MEDGEN • S_THESAURUS |
Protein | • Protein Ontology |
• S_CL • S_CLO • S_MP • S_HP |
Cell |
• Cell Ontology • Cell Line Ontology • Thesaurusa • MedGena |
• S_CL • S_CLO • S_THESAURUS • S_MEDGEN |
Tissue | • Thesaurusa | • S_THESAURUS |
DATA | • All data properties are store in this class | • DATA |
aSemantic types have been adopted to represent different classes from VANDF, MeSH, MedGen, and Thesaurus, such as T109 representing “Organic Chemical”, T121 representing “Pharmacologic Substance”, T025 for “Cell”, T028 for “Gene or Genome”, etc.