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Table 8 Top genes in Freeman Sheldon syndrome exomes after comparison to Miller syndrome Exomes.

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

Rank GeneSymbol Residuals FSS p-value Miller p-value
1 MYH3 -0.92 0.000 0.946
2 MYH7B -0.72 0.032 0.745
3 GCN1L1 -0.28 0.049 0.247
4 MLL3 -0.23 0.032 0.164
5 POTED -0.22 0.031 0.159
6 FRG2C -0.20 0.013 0.108
7 KCNJ18 -0.17 0.001 0.058
8 SLC12A3 -0.13 0.044 0.061
9 BCLAF1 -0.12 0.005 0.008
10 OR4C3 -0.12 0.002 0.004
  1. After comparing gene scores in Freeman Sheldon syndrome (FSS) exomes to Miller syndrome exomes using a linear model, genes are re-sorted on residuals. Here, small negative residuals indicate genes that were more significant in Freeman Sheldon syndrome exomes relative to Miller syndrome exomes.