Congenital heart disease (CHD) is one of the most common birth defects, with complex genetic and environmental etiologies. The reports of genetic variation associated with CHD have increased dramatically in recent years due to the revolutionary development of molecular technology. However, CHD is a heterogeneous disease, and its genetic origins remain inconclusive in most patients. Here we present a database of genetic variations for non-syndromic CHD (NS-CHD). By manually literature extraction and analyses, 5345 NS-CHD-associated genetic variations were collected, curated and stored in the public online database. The objective of our database is to provide the most comprehensive updates on NS-CHD genetic research and to aid systematic analyses of pathogenesis of NS-CHD in molecular level and the correlation between NS-CHD genotypes and phenotypes.

中文翻译：

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CHDGKB：一个知识库，用于系统地了解与非先天性先天性心脏病相关的遗传变异。

先天性心脏病（CHD）是最常见的先天缺陷之一，其遗传和环境病因复杂。近年来，由于分子技术的革命性发展，与冠心病相关的遗传变异的报道急剧增加。但是，冠心病是一种异质性疾病，在大多数患者中其遗传起源仍不确定。在这里，我们介绍了非综合征性冠心病（NS-CHD）的遗传变异数据库。通过手工文献提取和分析，收集，整理和存储了5345个与NS-CHD相关的遗传变异，并将其存储在公共在线数据库中。我们数据库的目的是提供有关NS-CHD遗传研究的最全面的更新，并在分子水平以及NS-CHD基因型与表型之间的相关性方面进行系统分析。