We also investigated whether BAVM cases carry a greater burden of rare CNVs overlapping genes in each of 7 candidate biological pathways relevant to BAVM based on prior studies (TGFβ signaling, Notch signaling, VEGF signaling, Angiogenesis, Vascular Development, Inflammatory Response and MAPK signaling). The gene discussed is VEGFA; the disease is arteriovenous malformations of the brain.