ACTN2 and cardiomyopathy: KEGG pathway analysis revealed enrichment in pathways associated with cardiomyopathies including arrhythmogenic right ventricular, hypertrophic, and dilated cardiomyopathy driven by genes such as ITGA8, ITGB8, DES, DSP, CACNB2, CACNA2D3, RYR2 and ACTN2. Additionally, pathways enriched in OVAT included hippo signalling, extracellular matrix (ECM) receptor interaction, cell adhesion molecules, and axon guidance (Fig. 4c; Supplementary Table S11).