In addition, the analysis of relative immune signatures revealed negative correlations between these genes and multiple immune signatures.<h4>Conclusions</h4>This study identifies novel candidate genes underlying CAVD pathogenesis and highlights BAMBI, HAND2, and MYOC as potential biomarkers and therapeutic targets, providing new insights into disease mechanisms and opportunities for novel interventions. Here, HAND2 is linked to congenital bilateral aplasia of vas deferens from CFTR mutation.