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A disease / disorder relationships explorer and a sample of a map-oriented scientific work. It uses the Human Disease Network dataset and allows intuitive knowledge discovery by mapping its complexity. The Human Disease Network (official) dataset, a poster of the data and related book (Biology - The digital era, ISBN: 978-2-271-06779-1) are available. This kind of data has a network-like organization, and relations between elements are at least as important as the elements themselves. More data could be integrated to this prototype and could eventually bring closer phenotype and genotype. Results should be visual, but also printable. Creating posters can enhance collaborative work. It facilitates discussion and sharing of ideas about the data. This website initiative is an invitation to think about the benefits of networks exploration but above all it tries to outline future designs of scientific information systems.

URL: http://diseasome.eu

Resource ID: nif-0000-24580     Resource Type: Resource     Version: Latest Version


disease, disorder, genotype, phenotype, poster, network

Additional Resource Types

Data Set, Narrative Resource, Book, Map, Service Resource







Parent Organization

Funding Information

Dana-Farber Cancer Institute, W. M. Keck Foundation, NHGRI, NIGMS,


Poster:, Creative Commons Attribution-NonCommercial-NoDerivs License, v3 United States



Original Submitter


Version Status


Submitted On

12:00am January 31, 2012

Originated From


Changes from Previous Version

  • Description was changed
  • Funding Information was changed
  • Additional Resource Types was changed

Version 2

Created 3 weeks ago by Christie Wang

Version 1

Created 3 years ago by Anonymous

The human disease network.

  • Goh KI
  • Proc. Natl. Acad. Sci. U.S.A.
  • 2007 22

A network of disorders and disease genes linked by known disorder-gene associations offers a platform to explore in a single graph-theoretic framework all known phenotype and disease gene associations, indicating the common genetic origin of many diseases. Genes associated with similar disorders show both higher likelihood of physical interactions between their products and higher expression profiling similarity for their transcripts, supporting the existence of distinct disease-specific functional modules. We find that essential human genes are likely to encode hub proteins and are expressed widely in most tissues. This suggests that disease genes also would play a central role in the human interactome. In contrast, we find that the vast majority of disease genes are nonessential and show no tendency to encode hub proteins, and their expression pattern indicates that they are localized in the functional periphery of the network. A selection-based model explains the observed difference between essential and disease genes and also suggests that diseases caused by somatic mutations should not be peripheral, a prediction we confirm for cancer genes.