Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
Consumer-friendly information about genetic variations on human health. This resource is also helpful for clinicians who have not studied genetics in depth. Includes the genetics effects of over 850 health conditions, diseases, and syndromes and more than 1,300 genes, health effects of genetic differences, and gene families.
GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Genes and Disease is a collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect. As some diseases affect various body systems, they appear in more than one chapter. With each genetic disorder, the underlying mutation(s) is discussed, along with clinical features and links to key websites.
The Genetic Testing Registry (GTR®) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials.
CTD contains manually curated data describing cross-species chemical-gene/protein interactions and chemical- and gene-disease relationships. The results provide insight into the molecular mechanisms underlying variable susceptibility and environmentally influenced diseases.
A comprehensive, authoritative compendium of human genes and genetic disorders, with links to literature references, sequence records, a clinical synopsis, and related databases including ClinicalTrials.gov, Gene Reviews, and GHR. OMIM can also be searched from the NBCI drop down menu.
A great patient education resource or resource for clinicians without a strong background in genetics. This site helps people understand terms and concepts used in genetic research, and each term includes the pronunciation, audio, images, and links to related terms.