VPS50 and autosomal recessive disease: With our study, we provided Moderate or Strong level of evidence for GDR for 11 genes that were not listed in OMIM as having phenotype entity: FBRSL1, AGR2, ACBD6, C1orf127, PAN2, VPS50, KCTD3, NOTCH3 (for autosomal recessive disease), FAT1, NRAP, and SCLT1.