TAB2 associated with congenital heart defects.
his example is based on a paper by Thienpont et al. . In this paper, we describe how we identified a region on chromosome 6 associated with cardiac defects through a genotype-phenotype correlation analysis. This region on 6q24-q25 region was further prioritized using Endeavour and several gene sets that represent different cardiac phenotypes or cardiac developmental processes. This reveals TAB2 as the top-ranked gene, and its role in cardiac development was further supported by expression analyses in human and model organisms, as well as knockdown experiments in zebrafish. Furthermore, a mutation analysis revealed two missense mutations and a balanced translocation, therefore demonstrating the role of TAB2 in cardiac development.
This example recreates one of the prioritization described in the paper. Endeavour is trained using the 33 genes that were associated with congenital heart defects at the time of the study, and once again all available human data sources. The candidate genes are the 103 genes from the region 6q24-q25. The results indicate that TAB2 is the most probable disease causing gene.
 Thienpont et al., Haploinsufficiency of TAB2 causes congenital heart defects in humans, Am. J. Hum. Genet. (2010)