After correction for multiple testing (P = 2.51 × 10−4), MUC4 (mucin 4), MUC6, COL4A4, MYO7A, AKAP12 (A-kinase anchoring protein 12), COL11A1, DSPP (dentin sialophosphoprotein), ESPN (espin), GPR98, PCDH15 (protocadherin 15), BSN (bassoon), CACNA1D (calcium channel, voltage-dependent, L type, alpha 1D subunit), TPRN (taperin), and USH1C were identified as significantly associated with isolated unilateral microtia (Table 3, Supplementary Table 2). The gene discussed is MUC4; the disease is microtia.