Deepening the knowledge of rare diseases dependent on angiogenesis through semantic similarity clustering and network analysis.

Background Angiogenesis is regulated by multiple genes whose variants can lead to different disorders. Among them, rare diseases are a heterogeneous group of pathologies, most of them genetic, whose information may be of interest to determine the still unknown genetic and molecular causes of other diseases. In this work, we use the information on rare diseases dependent on angiogenesis to investigate the genes that are associated with this biological process and to determine if there are interactions between the genes involved in its deregulation. Results We propose a systemic approach supported by the use of pathological phenotypes to group diseases by semantic similarity. We grouped 158 angiogenesis-related rare diseases in 18 clusters based on their phenotypes. Of them, 16 clusters had traceable gene connections in a high-quality interaction network. These disease clusters are associated with 130 different genes. We searched for genes associated with angiogenesis througth ClinVar pathogenic variants. Of the seven retrieved genes, our system confirms six of them. Furthermore, it allowed us to identify common affected functions among these disease clusters. Availability https://github.com/ElenaRojano/angio%5fcluster. Contact seoanezonjic@uma.es and elenarojano@uma.es [ABSTRACT FROM AUTHOR]

Copyright of Briefings in Bioinformatics is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)