Additional file 4 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Abstract

Additional file 4: Table S3. Mendelian phenotypes annotated to 16p11.2 and 22q11.2 genes in PheWAS results. We compare Mendelian phenotypes annotated to 16p11.2 and 22q11.2 genes (as catalogued in OMIM) with our imputed gene expression PheWAS results. For each of the Mendelian traits, we list one or more related traits that were tested in PheWAS along with the p-value, selecting the trait(s) with the best p-value to represent. Traits that are in the top 1% of associations for individual genes are marked. This table is a proof-of-concept that our PheWAS approach can pick up known gene-phenotype associations but has not been quantified for enrichment due to the subjective nature of identifying related traits