Pathway-specific protein domains are predictive for human diseases
Fig 3
PSDs can predict disease genes.
(A) A summary of candidate gene selection for coronary artery disease (CAD) and schizophrenia (SCZ) by integration of GWAS significance and PSD occurrence data. SNPs from GWASs were divided into three groups: (i) SNPs with high significance that indicate confident candidate genes; (ii) SNPs with low significance that are generally discarded; and (iii) SNPs with moderate significance that were considered for further selection in this study. Based on the overlap between disease genes and pathway genes, we converted domain-pathway associations into domain-disease associations to identify disease-associated PSDs. Candidate disease genes of the GWAS∩PSD set were selected based on the occurrence of disease-associated PSDs of the genes with moderate GWAS significance. (B) The precision of CAD gene predictions was assessed based on CADgeneDB annotations. The precision by random expectation (i.e., the number of disease genes / the number of all human genes) is indicated by the blue line (~2.5%). (C) The precision of SCZ predictions was assessed based on SZdatabase annotations. The precision by random expectation is indicated by the blue line (~4.1%).