From: MedGen
The NCBI Handbook [Internet]. 2nd edition.
Bethesda (MD): National Center for Biotechnology Information (US); 2013-.
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Table 1.
A list of data elements aggregated in MedGen and their sources
| # | Data Type | Source |
|---|---|---|
| 1 | Clinical and research tests | GTR® |
| 2 | Clinical features | HPO |
| 3 | Clinical trials® |
ClinicalTrials |
| 4 | Concept ID | UMLS® or GTR® |
| 5 | Consumer resources | Genetics Home Reference, Genetic Alliance, Genetic and Rare Diseases Information Center, MedlinePlus |
| 6 | Cytogenetic location | NCBI annotation |
| 7 | Gene | NCBI’s Gene |
| 8 | Links to other NCBI’s resources | NCBI’s resources such as Gene, MeSH®, ClinVar, Bookshelf, BioSystems, etc. |
| 9 | MedGen Identifier | MedGen |
| 10 | Mode of inheritance | OMIM® /ClinVar/GTR® |
| 11 | Molecular resources | Coriell Institute for Medical Research |
| 12 | Professional Guidelines | NCBI curation |
| 13 | RefSeqGene | RefSeqGene |
| 14 | Reviews | GeneReviews™, PubMed Clinical Queries |
| 15 | Semantic type | UMLS® |
| 16 | SNOMED CT® terms | SNOMED CT® |
| 17 | Source Identifiers | Various sources, such as OMIM®, HPO, etc. |
| 18 | Terms definitions | GeneReviews™, Medical Genetics Summaries, etc. |
| 19 | Terms, acronyms, synonyms | Defined vocabularies |
| 20 | Terms hierarchies | GTR®, MedGen |
| 21 | Variations | ClinVar |