Figure 3

Evaluation of different HT- and T2D-associated gene sets to cause disease phenotypes when perturbed. (A) The Venn diagrams of different HT- and T2D-associated gene sets. 'GWAS' refers genes nearest to GWAS SNPs. 'R_GAD' are genes in GAD that have multiple references. 'R_GWAS' are replicated GWAS-identified genes as summarized in ref. [1, 17–24]. (B) Average probability of gene perturbation to cause disease phenotype for different gene sets. The mean and standard errors in each group are marked by the height of the bars and the length of the whiskers. Number of genes within each gene set is indicated by the connected line with units labeled at the right y-axis. (C) Average phenotype probabilities (bars scaled to the left y-axis) and fold enrichment for the genes with high phenotype probabilities (> 95% specificity, connected line scaled to the right y-axis) inversely correlate with the distance to the genomic locations of GWAS SNPs. (D) T2D phenotype probabilities of genes (the maximal within the x Mbp of SNPs as indicated by the x-axis) correlate with T2D association odds ratio (OR) of the nearby GWAS SNPs.