Based on the gene– and variation–CHD correlations, ~150 CHD types and 160 related syndromes are integrated in CHDbase. The correlations of discordant CHD types, molecular classification of CHD, and related syndrome list are provided here.
The top 52 CHD types ranked by the number of publications
Pairwise correlations of 27 CHD types associated with at least 10 genes in CHDbase
CHD classification based on genotype-phenotype correlations
Classification of 27 CHD types associated with at least 10 genes in CHDbase. Jaccard distances for all pairs of malformations are shown as a heatmap; they were used to group CHD into seven groups through hierarchical cluster analysis. For each group, the anatomical term is suggested on the right.
160 CHD-related syndromes included in CHDbase* According to the occurrence frequency of CHD in the syndrome, the syndromes are categorized into five groups: very commonly associated (CHD frequency ≥ 50%), frequently associated (CHD frequency ≥ 20% and CHD frequency < 50%), occasionally associated (CHD frequency ≥ 5% and CHD frequency < 20%), very occasionally associated (CHD frequency < 5%).