Table 3.
Resource | Response Types | Specific Terminologies used to index the content | Code based searching support for Specific Terminologies |
---|---|---|---|
NCBI Resources: ClinVar, GeneReviews, Genetic Practice Guidelines, Genetic Testing Registry, MedGen | HTML/Text XML/JSON (with e-utilities) | OMIM, HGNC Approved Gene Symbol, UMLS, SNOMED-CT | OMIM* |
GHR (National Library of Medicine) | HTML | OMIM, HGNC Approved Gene Symbol, UMLS, SNOMED-CT | OMIM |
OMIM | HTML/XML/JSON/JSONP (with Key) | OMIM, HGNC Approved Gene Symbol, UMLS, SNOMED-CT | OMIM |
PharmGKB | HTML | OMIM, HGNC Approved Gene Symbol, UMLS, SNOMED-CT, NDFRT | None |
CPIC guidelines | None | None | N/A |
* While code-based searching with OMIM MIM numbers is supported by the www.ncbi.nlm.nih.gov resources, in some cases, we choose to use the search term itself to maximize coverage.