July 13, 2015
Authors of a study published in Nature generated a human disease network, in which diseases that have similar signs and symptoms cluster together, and have used this network to identify closely related diseases based on common etiological, anatomical as well as physiological underpinnings. This is a resource of disease-associated phenotypes for over 6,000 common, rare, infectious and Mendelian diseases. The authors emphasise that through this approach, they have not only obtained phenotypic characterisation of common and infectious diseases, but also characterisation for genetically-based diseases in OMIM for which currently “no phenotypic characterisation exists either in the HPO annotations or as a clinical synopsis in OMIM.” The disease–disease similarity network in this study shows that diseases of different systems and pathological processes can be separated on the basis of phenotypic relatedness which is also supported by their cluster analysis and identify similarity between etiologically related disease groups where overlapping phenotypes are observed.
The authors believe that “exploring diseases through their associated phenotypes has major applications for biomedical research, and several studies have primarily relied on disease phenotypes to reveal functional disease modules candidate genes of disease, prioritise genes in GWAS studies, and investigate drug targets and indications.”