Find Genetic Disease Information

These websites are expertly curated and can be used to find clinical information about specific genetic diseases or genes.

 

Genetics Home Reference

Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Has entries for both Mendelian and multifactorial diseases. Can search by gene or disease.

GeneReviews

A 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. Supports searching by diseases, not genes. Organized by disease, so broad category like ‘breast cancer’ will pull up multiple records, one for each genetic disorder that has breast cancer as a feature.

OMIM (Online Mendelian Inheritance in Man)

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is updated daily. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and over 15,000 genes.