About Rare Disease Genes

About Rare Disease Genes

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Advances in high throughput genetic testing technologies reveal a growing number of genetic insights among rare diseases. However, data fragmentation, lack of associated evidence, and the low frequency, diversity, and complexity of variants pose major challenges to providing a timely and accurate diagnosis of rare disease. To address gaps in such data, this website hosts gene locus-specific databases for selected rare genetic conditions. Through systematic review and curation of published literature and laboratory classified variants, these databases provide a repository of gene variant data for clinicians, scientists, and stakeholders in the rare disease community. These dynamic, searchable databases include:

  • Gene variant annotations with frequency, classification and impact​
  • Variants with associated disease, biochemical, and phenotype-related data, and PubMed reference numbers (PMIDs)
  • Genotype-related variant pairings including associated variants
  • Geographical distribution of variants and genotypes​

For more information on table headers, HGVS nomenclature, and ACMG classification please use the following links here.

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