GeneReviews

GeneReviews are expert-authored, peer-reviewed disease descriptions focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

GeneReviews

OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

OMIM


External Resources

  • BARD - Bioassay Database from the NIH Molecular Libraries Program
  • Enzyme Nomenclature - NC-IUBMB
  • ExPASy - SIB Bioinformatics Resource Portal
  • ExplorEnz - The Enzyme Database
  • GeneCards® - The Human Gene Compendium
  • GeneReviews - Expert-authored, Peer-reviewed Disease Descriptions
  • Genetics Home Reference - Your Guide to Understanding Genetic Conditions
  • GTR - Genetic Testing Registry
  • HGNC - HUGO Gene Nomenclature Committee
  • HMDB - Human Metabolome Database
  • iHOP - A Gene Network for Navigating the Literature
  • MalaCards - The Human Malady Compendium
  • NCBI - National Center for Biotechnology Information
  • NORD - National Organization for Rare Disorders
  • OMIM - Online Mendelian Inheritance in Man®. An Online Catalog of Human Genes and Genetic Disorders
  • Orphanet - Portal for Rare Diseases and Orphan Drugs
  • UniProt-KB - Resource of Protein Sequence and Functional Information
  • UniProt-GOA - Gene Ontology Annotation Database