Autoimmune diseases (ADs) arise from an abnormal immune response of the body against substances and tissues normally present in the body. More than a hundred of ADs have been described in the literature so far. Although their etiology remains largely unclear, various types of ADs tend to share more associated genes with other types of ADs than with non-AD types. Here we present GAAD, a gene and AD association database. In GAAD, we collected 44,762 associations between 49 ADs and 4249 genes from public databases and MEDLINE documents. We manually verified the associations to ensure the quality and credibility. We reconstructed and recapitulated the relationships among ADs using their shared genes, which further validated the quality of our data. We also provided a list of significantly co-occurring gene pairs among ADs; with embedded tools, users can query gene co-occurrences and construct customized co-occurrence network with genes of interest. To make GAAD more straightforward to experimental biologists and medical scientists, we extracted additional information describing the associations through text mining, including the putative diagnostic value of the associations, type and position of gene polymorphisms, expression changes of implicated genes, as well as the phenotypical consequences, and grouped the associations accordingly. GAAD is freely available at http://gaad.medgenius.info.
自身免疫疾病(autoimmune diseases)是指机体对自身抗原发生免疫反应而导致自身组织损害所引起的疾病。到目前为止,各种文献中已经介绍了超过一百种自身免疫病。尽管我们对于自身免疫病的病因仍然不清楚,但是我们发现:与非自身免疫病相比,自身免疫病之间会有更多的相关基因(associated genes)。基于这点,我们开发了GAAD(A Gene and Autoimmiune Disease Association Database)数据库。在GAAD数据库中,我们收集了来自公共数据库和 MEDLINE 文档的49个自身免疫病和4249个基因之间的44762个关联信息(associations)。我们通过人工检验的方式,保证了这些关联信息的质量和准确度。此外,我们使用了这些自身免疫病的共享基因重建并且重现了自身免疫病之间的关系,从而进一步确保我们数据的可靠性。在数据库中,我们还提供了自身免疫病之间显著共存基因对(co-occurring gene pairs)的列表,根据这个数据,用户可以使用嵌入式工具查询基因共现(gene co-occurrences),并利用感兴趣的基因构建特定的共现网络。为了使实验生物学和医学科学研究人员更加方便地使用数据库,我们通过文本挖掘(text mining)的方式提取了描述每个关联的其他相关信息,包括关联的公认诊断价值、基因多态性的类型和位置、关联基因的表达变化和表型变化,并根据关联进行分组。GAAD(http://gaad.medgenius.info)数据库支持免费使用和下载数据。
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GAAD: A Gene and Autoimmiune Disease Association Database
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