Skip to main content


Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Table 5 Gene rank and p-value assigned to causal gene in two Mendelian disorders.

From: Identifying Mendelian disease genes with the Variant Effect Scoring Tool

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
  1. 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.