GeneMatcher is an online service and database that aims to match clinicians studying patients with a rare disease presentation based on genes of interest.

The website was launched in September 2013 by a team from a government-funded collaborative project between Johns Hopkins Hospital and Baylor College of Medicine in the United States.

[1] The team are part of a collaborative effort between Johns Hopkins Hospital in Baltimore, Maryland and Baylor College of Medicine in Houston, Texas, United States called the Baylor–Hopkins Center for Mendelian Genomics (BHCMG), one of three such Centers for Mendelian Genomics (CMGs) established and funded by the American National Institutes of Health (NIH) and National Human Genome Research Institute (NHGRI) in 2011.

[1] GeneMatcher is part of a collaboration between multiple gene-matching services called MatchmakerExchange,[5] launched in October 2013.

[6] American genetic testing company GeneDx has uploaded genes from its database with likely pathogenic variants, leading to dozens of matches.