CHDbase
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接：
http://chddb.fwgenetics.org
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资源简介：
We therefore developed CHDbase, an evidence-based knowledgebase of CHD-related genes and clinical manifestations manually curated from 1114 publications, linking 1124susceptibility genes and 3591 variations to more than 300 CHD types and related syndromes. Metadata such as the information of each publication and the selected population and samples, the strategy of studies, and the major findings of studies were integrated with each item of the research record. We also integrated functional annotations through parsing ∼ 50 databases/tools to facilitate the interpretation of these genes and variations in disease pathogenicity.
提供机构：
Chinese Academy of Medical Sciences and Peking Union Medical College
创建时间：
2023-08-23
