The phenotype score was derived from the phenotype match of the HPO profile used for Usher syndrome type II patients (Table S2) and OMIM:276901 (i.e., Usher syndrome, type 2A) as the most similar phenotypic annotation of USH2A found in OMIM via the PhenoDigm algorithm; Exomiser also reported the phenotype matches (with lower phenotype scores) found for a mouse mutant (0.496) and a zebrafish mutant (0.346) involving USH2A as well as a human disease, mouse mutant, and zebrafish mutant of the PDZD7 neighboring gene (0.538) found in the USH2A interactome via STRING analysis. The gene discussed is USH2A; the disease is Usher syndrome type 2A.