Figure 1

A summary of liver phenotypes in Mendelian genetic disorders. (A) Inheritance mode, annotated clinical liver phenotypes, and biological effects of 502 genes related to Mendelian disorders. The liver phenotypes and inheritance were curated based on OMIM, ClinGen, and a literature search. AD: autosomal dominant disorder; AR: autosomal recessive disorder; XLD: X-linked disorder; XLR: X-linked recessive disorder; AD and AR: Genes with both autosomal dominant and autosomal recessive inheritance were reported. The right lower box showed the numbers of genes with corresponding biological effects and inheritance mode. (B) Box plot of pLI scores of 502 genes in three groups based on inheritance mode. The dark line inside the box represents the median of pLI score. The top of box is 75% and bottom of box is 25%. The endpoints of the lines are at a distance of 1.5*IQR, where inter quartile range is the distance between 25 and 75th percentiles. The points outside the whiskers are marked as dots and are considered as extreme points. (C) Violin plot of missense Z scores of 502 genes in three different groups based on inheritance mode. P values in B and C for differences between dominant and recessive genes were determined using ANOVA.