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. 2018 Sep 6;8:13359. doi: 10.1038/s41598-018-31439-w

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Step-by-step illustration of how DES-Mutation can be used to identify relationships between the human disease ‘thalassemia’ and mutations. The purple circles represent the “DOID Ontology (Bioportal)” dictionary; the yellow square represent the “Human Genes and Proteins (EntrezGene)” dictionary; and the pink octagons represent the “Mutations (tmVar)” dictionary. The edge color is distributed across a color spectrum from red (strong association) to blue (weaker association) based on the frequency of co-occurrence. The number on each edge represents the number of publications that link the associated nodes.