Table 5.
Gene rank and p-value assigned to causal gene in two Mendelian disorders.
| Disorder/Gene | Mean VEST Rank | Mean VEST score | Fisher Rank | Fisher p-value | Stouffer Rank | Stouffer p-value |
|---|---|---|---|---|---|---|
| All genes | ||||||
| Miller syndrome/DHODH | 112 | 0.71 | 7 | 11.6e-07 | 3 | 1.9e-06 |
| Freeman Sheldon syndrome/MYH3 | 124 | 0.67 | 3 | 3.7e-14 | 3 | 9.3e-07 |
| Dominant model | ||||||
| Miller syndrome/DHODH | 15 | 0.71 | 5 | 4.4e-08 | 2 | 1.9e-06 |
| Freeman Sheldon syndrome/MYH3 | 12 | 0.67 | 3 | 3.7e-14 | 2 | 9.3e-07 |
| Recessive model | ||||||
| Miller syndrome/DHODH | 12 | 0.71 | 4 | 9.8e-06 | 2 | 1.9e-06 |
| Dominant model including truncating | ||||||
| Miller syndrome/DHODH | 11 | 0.75 | 10 | 7.0e-11 | 3 | 2.5e-08 |
| Freeman Sheldon syndrome/MYH3 | 19 | 0.67 | 10 | 3.8e-14 | 12 | 9.3e-07 |
| Recessive model including truncating | ||||||
| Miller syndrome/DHODH | 9 | 0.75 | 10 | 7.14e-10 | 3 | 2.5e-08 |
Ranks and p-values for the genes underlying Miller syndrome and Freeman Sheldon syndrome for three gene lists: all genes harboring missense mutations, genes with a missense mutation in at least one copy in all disease exomes (dominant model), and genes with a missense mutation in both copies in all disease exomes (recessive model). Genes were ranked using two scoring methods, Fisher's method and Stouffer's Z score.