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Fig. 2 | Genome Medicine

Fig. 2

From: An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility

Fig. 2

iCPAGdb integrates GWAS of different scales to reveal a biological connection between MacTel 2 and serine. a Multi-dataset network of cross-phenotype associations detected by iCPAGdb. Phenotypes that demonstrated significant overlap (FDR ≤0.1) are color-coded in the indicated colors. b Riverplot of macular telangiectasia type 2 (MacTel type 2) cross-phenotype associations generated from iCPAGdb shows mapped genes associated with MacTel type 2 (left) connected with NHGRI-EBI GWAS phenotypes grouped into EFO categories (right; colors are different categories). SNPs in CPS1 and PHGDH are associated with MacTel type 2 and are also associated with serine levels, which are believed to play a causal role in the disease. Other connections may represent causal connections, comorbid outcomes, and regulators of disease. c Cross-phenotype associations connecting MacTel type 2 and serine. One locus demonstrated direct SNP overlap (rs715). A second locus demonstrated indirect overlap based on 4 SNPs in LD as visualized in the heatmap color-coded by LD. d A model for how SNPs regulate serine levels to impact pathogenesis of MacTel type 2 based on iCPAGdb and prior work described in the text

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