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National Library of Medicine Resources: Genetic Information

This guide provides information on the various free databases you can search through the National Library of Medicine.

NLM Databases with Literature Links

  • Gene (from the NCBI and NLM): 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.
  • Genetics Home Reference (GHR): 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.
  • GeneReviewsGeneReviews, 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 DiseasesGenes 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.
  • Genetic Testing Registry (GTR)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.  
  • GQuery: This is a search tool that allows you to use simple genetic terms to search across the NLM NCBI databases.
  • MedGen: This is a medical genetics portal through NCBI that allows you to search many resources, including GTR, GeneReviews, and Online Mendelian Inheritance in Man.

TOXNET Genetic Resources

  • Comparative Toxicogenomics Database (CTD)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. 
  • Developmental and Reproductive Toxicology (DART)DART provides more than 400,000 journal references covering teratology and other aspects of developmental and reproductive toxicology. 

Additional Resources and Databases

  • Genetic and Rare Diseases Information Center (GARD): Provides information about rare diseases for patients, families, healthcare providers, researchers, educators, and students.
  • HUGO Gene Nomenclature Committee (HGNC): A curated online repository of HGNC-approved gene nomenclature and associated resources including links to genomic, proteomic, and phenotypic information, as well as dedicated gener family pages.
  • Online Mendelian Inheritance in Man (OMIM):  A comprehensive, authoritative compendium of human genes and genetic disorders, with links to literature references, sequence records, a clinical synopsis, and related databases including, Gene Reviews, and GHR. OMIM an also be searched from the NBCI drop down menu.
  • Talking Glossary of Genetic Terms: 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. 
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