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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.
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BMC Genomics

ISSN: 1471-2164

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