Performance of PHIVE score in Exomiser by Orphanet disease category, together with just the phenotype-based scores. The number of diseases tested for each category are shown in parentheses. Note that many diseases belong to multiple disease categories. The overall PHIVE performance and the contribution of the phenotype score used in Exomiser is seen to vary with respect to the disease category. The highest contribution of the phenotype score is in the category of gastroenterological diseases, the smallest in the category of abdominal surgical diseases.