ClinVar aggregates the names of medical conditions with a genetic basis from such sources as SNOMED CT, GeneReviews, Genetic Home Reference, Office of Rare Diseases, MeSH, and OMIM®. ClinVar also aggregates descriptions of associated traits from Human Phenotype Ontology (HPO), OMIM, and other ontologies. Each source of information is tracked, and can be used in queries.
This is a new and evolving resource from NCBI. Keep an eye on it for changes and/or to add your input into how you think it should work.
The database of Genotypes and Phenotypes (dbGaP) archives and distributes the results of studies investigating the interaction of genotype and phenotype. Users can obtain controlled access to data, download public data, and contribute their own results to the database.
See the tutorial for a thorough overview of how to best use this resource.
Genes and Disease is a collection of articles that discuss genes and the diseases that they cause. Genetic disorders are organized by the parts of the body affected.
Gene integrates information from many sources, giving results that include nomenclature, RefSeqs, maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
The NCBI Bookshelf contains a comprehensive resource, Gene Help: Integrated Access to Genes of Genomes in the Reference Sequence Collection, by Brown et al, to help better use the database, as well as understand all of the information available in a record.
GeneReviews is a collection of expert-authored, peer-reviewed disease descriptions on the NCBI Bookshelf that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. GeneReviews also provides links to many other useful resources including:
These tools are very helpful for patients and their families.
OMIM is an online catalog of human genes and genetic disorders. It is a comprehensive and authoritative compendium of human genes and genetic phenotypes, freely available and updated daily. Full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes.
The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers.
The dbMHC database provides an open, publicly accessible platform for DNA and clinical data related to the human Major Histocompativility Complex (MHC). This resource is produced and maintained by both NCBI and the Medical University of Graz, Austria.