Exomiser did not identify any known gene-phenotype annotations in human disease (Table S4) as the current version of the Exomiser phenotype database does not contain yet the OMIM:618220 phenotypic annotation for DHX38. Nevertheless, Exomiser detected some phenotypic similarity (0.502) of patient P43 with the OMIM:231550 (Achalasia-addisonianism-alacrimia syndrome) phenotypic annotation of the neighboring AAAS gene in the DHX38 interactome. This evidence concerns the gene AAAS and triple-A syndrome.