Figure 2

Example of analysis of a monogenic disease. (a) The data defining the phenotype of the disease (in this case the OMIM identifier of an equivalent disease) and the region where it was mapped are given in the COMBO box. (b) The results window displays the MeSH C terms derived from the links to MEDLINE found in the OMIM entry, and the resulting scores for the GO terms. The green arrows allow traveling the MeSH C/MeSH D/GO network of connections back and forth. (c) Further down in the results window, the list of candidates displays the position of the BLASTx hits [35] in the chromosomal region (dark green bar over the light green bar) and of the hits in the matching protein sequence (dark red bars over the light red bar). Each hit in the genome is linked to the UCSC Genome Browser ("U" link). (d) The UCSC Genome Browser allows examining the genes known or predicted that overlap with the match linking to very useful databases and resources.