Genes and Clinical Manifestations
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Congenital heart disease (CHD) is the most common cause of major birth defects with a prevalence of 1%. As a heterogeneous disorder, CHD represents a broad spectrum of malformations of the heart or major blood vessels. The pathogenesis of CHD is complex, with strong genetic susceptibilities.
With the development of genetic and genomic techniques, the understanding of CHD is dramatically advanced. CHDbase is a comprehensive genetic knowledgebase of CHD, providing timely information from the perspective of genetic factors underpinning CHD, to facilitate the basic and clinical studies of this community.
The current version of CHDbase integrates 1124 susceptibility genes, 1006 structural variations, 2585 single-nucleotide variants/insertion-deletion variants (SNVs/indels) and 14 linkage regions associated with ~150 CHD types and 160 related syndromes from 1114 publications.
Furthermore, we evaluated the importance of each susceptibility gene using a gene interaction network approach and extracted a core sub-network of 163 genes using k-core decomposition. The expression profile and functional enrichment of CHD-related genes, and genetic correlations among different CHD types are also provided.