Figure 6.

MeSH terms search results. As shown in Figure 2, the results can also be queried using the MeSH Disease terms. Variations associated to the main Disease categories from the MeSH hierarchy can be retrieved. The results are organized in a table showing the variants described in association with the disease in the literature, and the weights assigned to each term. This functionality provide a phenotypic description in the disease area of the variations. These results are also shown using the gene-centred search modality.