Phenotype-Based Approach

Compare Patient Phenotypes

In many diseases, a phenotype-genotype or gene-to-phenotype correlation has been reported, and this correlation provides important information for variant classification.

In this database, it is easy to compare the detailed phenotype of each patient to the averaged phenotype with the same gene mutation at the variant or gene level. It is also possible to browse patients with the same gene mutation quickly and compare many patient phenotypes with each other.

Averaged Phenotype

This version of the software is able to manage 9 sets of graphical data, 40 sets of numerical data, and 20 sets of categorical data for each patient. These clinical data are used for calculating the averaged phenotype at each variant or each gene automatically.