lack of significance for autism is probably due to insufficient power: the distribution of p-values is close to the null distribution. In contrast, for schizophrenia, many genes were found to be significant in the S-PrediXcan analysis. There are several reasons that may explain this lack of enrichment: genes identified with GWAS and subsequently with S-PrediXcan have rather small effect sizes, so that it would not be surprising that they were missed until very large sample sizes were aggregated; ClinVar genes may originate from rare mutations that are not well covered by our prediction models, which are based on common variation (due to limited sample sizes of eQTL studies and the minor allele frequency –MAF filter used in GWAS studies); or the mechanism of action of the schizophrenia linked ClinVar genes may be different than the alteration of expression levels. Also, the pathogenicity of some of the ClinVar entries has been questioned31. The list of diseases in ClinVar used to generate the enrichment figures can be found in Supplementary Data 1, along with the corresponding association results.
