Fig. 7.

(A) Network map of protein kinase A pathway mutations in genetic diseases. Outline of each node shows the functional significance of corresponding mutations, with benign variants or variants of unknown significance in green and pathogenic mutations or risk factors in red. Size of the node represents the number of mutations classified as pathogenic, likely pathogenic, or risk factor in ClinVar (Landrum et al., 2020). Pie charts within the node are colored by frequency of disease phenotypes associated with mutations in each node. Solids edges represent known FIs, with arrows indicating that some form of regulation exists between the nodes. Dashed edges represent FIs predicted by Reactome, and dotted edges indicate FIs predicted by STRING (score > 0.75). Disease phenotype abbreviations: BMIQ19, Body Mass Index Quantitative Trait Locus 19; LCCS8, lethal congenital contracture syndrome 8.