Figure 4

Distinct evolutionary signatures of disease classes. Comparison of the 29 “level-1” disease-related annotations identified as having a statistically significant evolutionary distribution (see Figure 3 and Methods), displayed relative to the distribution of the null model (all OMIM genes). Annotations are separated into signatures for A) vertebrate-specific, B) early metazoan, and C) multi-stage metazoan disease classifications. Only statistically significant over/under-representations of points within individual phylostratigraphic bins are plotted as non-zero (Fisher’s exact test, 2 × 2 contingency table; p < 0.05), corresponding to those denoted in Figure 3. Points marked with an asterisk (*) denote over/under-representations where p < 6.5 × 10^-4 (p < 0.05, Bonferroni corrected for bin-specific comparisons).