VI.3 Diseasome: The Human Disease Network

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Mathieu Bastien

Sebastien Heymann

This map by computer scientists Mathieu Bastian and Sébastien Heymann shows relationships between 1,284 disorders and 1,777 disease genes obtained from the Online Mendelian Inheritance in Man (OMIM) database. Diseases are represented by nodes, forming connections with other disease nodes where at least one gene with associated mutations is shared. Major properties of the networks are given on the top left. The top-five diseases and the top-five genes are listed underneath. The top gene is TP53, and it encodes the tumor protein p53 that regulates the cell cycle and functions as a suppressor for tumors such as cancer. The description provides information on how the network was laid out and what color and size coding is used. The map introduces network visualization to medical innovation, thereby improving our understanding of the interplay between the genotype, cellular networks, and disease phenotypes and supporting pharmaceutical development. Correlations in treatment efficacy mimicking the correlations in network nodes would significantly lower the time required to bring effective interventions to patients. The Diseasome website presents an interactive disease relationships explorer and links to documents and online databases at


Goh, Kwang-Il, Michael E. Cusick, David Valle, Barton Childs, Marc Vidal, and Albert-László Barabási. 2007. "The Human Disease Network." PNAS 104 (21): 8685-8690.

Bastien, Mathieu and Sébastien Heymann. 2009. Diseasome. Courtesy of INIST-CNRS and Linkfluence. In “6th Iteration (2009): Science Maps for Scholars,” Places & Spaces: Mapping Science, edited by Katy Börner and Elisha F. Hardy.

Acknowledgements: This exhibit is supported by the National Science Foundation under Grant No. IIS-0238261, CHE-0524661, IIS-0534909 and IIS-0715303, the James S. McDonnell Foundation; Thomson Reuters; the Cyberinfrastructure for Network Science Center, University Information Technology Services, and the School of Library and Information Science, all three at Indiana University. Some of the data used to generate the science maps is from the Web of Science by Thomson Reuters and Scopus by Elsevier. Any opinions, findings, and conclusions or recommendations expressed in this material are those of the author(s) and do not necessarily reflect the views of the National Science Foundation.