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- GeneMatcher is an online service and database that aims to match clinicians studying patients with a rare disease presentation based on genes of interest. When two or more clinicians submit the same gene to the database, the service matches them together to allow them to compare cases. It also allows matching genes from animal models to human cases. The service aims to establish novel relationships between genes and genetic diseases of unknown cause. 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. As of December 2019, the site contained 11,855 genes from 7,724 submitters from 88 countries, and 6,609 matches had been made. The service has aided geneticists in making several discoveries, including establishing the genetic causes of a form of autism spectrum disorder, syndromes of microcephaly with hearing loss, a mitochondrial disease, SPONASTRIME dysplasia and Au–Kline syndrome. (en)
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- 18297 (xsd:nonNegativeInteger)
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- Baylor–Hopkins Center for Mendelian Genomics (en)
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- Online service and database for matching clinicians based on genes of interest (en)
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- Genes, genomic loci, genetic disorders, physical symptoms (en)
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- Online service and database for matching clinicians based on genes of interest
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- GeneMatcher is an online service and database that aims to match clinicians studying patients with a rare disease presentation based on genes of interest. When two or more clinicians submit the same gene to the database, the service matches them together to allow them to compare cases. It also allows matching genes from animal models to human cases. The service aims to establish novel relationships between genes and genetic diseases of unknown cause. (en)
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