Finally, we analyzed the cell type-specific expression of 52 genes associated with EoE risk by genome-wide association studies (GWAS)60,61, candidate gene association studies62, expression quantitative trait loci (eQTL) analysis63, or exon sequencing64 and in Mendelian diseases associated with EoE (hyper-IgE syndrome, Ehlers-Danlos syndrome, PTEN hamartoma tumor syndrome, ERBIN deficiency, Loeys-Dietz syndrome, SAM syndrome, and Netherton’s syndrome)65 (Methods). The gene discussed is ERBIN; the disease is hyperinsulinemic hypoglycemia, familial, 4.