Copy-number variants in this gene have been linked to autism spectrum disorder48 and gene knock-out in mice causes social and object recognition deficits.49PCDH9 has also been described as a tumor-suppressor gene.50 Two significant sites are located in CNTNAP2 on chromosome 7, encoding Contactin Associated Protein-Like 2; a neuronal transmembrane protein part of the neurexin family that mediates cell–cell interaction (cg25949550: beta = 0.009, se = 0.002, P = 1.8 × 10−9; and cg21322436: beta = 0.01, se = 0.002, P = 6.7 × 10−8). The gene discussed is CNTNAP2; the disease is neoplasm.