Fig. 5: A bird’s-eye view of the gene–disease association network. | Nature Cardiovascular Research

Fig. 5: A bird’s-eye view of the gene–disease association network.

From: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Fig. 5

CVD has diverse manifestation. To explore whether our unknown gene candidates also have potential associations with CVD other than CHD, we performed gene–disease enrichment analysis. We performed gene–disease network enrichment analysis for orthologous human–mouse cardiac knockout genes using the automated tool NetworkAnalyst100. The gene–disease association network was generated only with the 486 genes that have not yet been associated with cardiac dysfunction in humans. In total, 64 of 486 ‘unknown’ genes were associated with 890 diseases in the enrichment analysis ‘Hairball’ network. Twelve genes were directly related to 25 CVDs, suggesting that they may play a role in human CVDs. Nodes (light red circles), genes from the list of 486 unknown genes; light red circles with larger-font letters, genes associated with CVDs; blue rectangles, diseases; edges colors (red arrows), association of genes with CVDs; light gray arrows, associations of genes with other diseases.

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