Table 4 Genes with a DBGM summative C-Scores more than three standard deviations from the mean in all three analyses.

From: Variant burden and severity of cardiomyopathy in patients with DMD-related Duchenne muscular dystrophy

  

Probability of a DBGM summative C-Score as extreme as observed

Gene

Gene Name

All Study Participants

Discordant Sibling Cohort

Unrelated Participants Cohort

ANKLE1

ankyrin repeat and LEM domain containing 1

1.13 × 10−7

6.69 ×10−12

6.79 ×10−10

ESRRA

estrogen related receptor alpha

0.000331

6.54 ×10−10

1.05 ×10−6

FRAS1

Fraser extracellular matrix complex subunit 1

2.81 ×10−6

0.000398

0.000102

GEMIN4

gem nuclear organelle associated protein 4

1.37 ×10−10

1.48 ×10−8

2.73 ×10−7

GXYLT1

glucoside xylosyltransferase 1

0.000877

1.21 ×10−6

4.3 ×10−6

MTCH2

mitochondrial carrier 2

1.88 ×10−73

2.32 ×10−156

4.60 ×10−16

PKD1L2

polycystin 1 like 2 (gene/pseudogene)

0

8.46 ×10−12

0

PRSS2

serine protease 2

1.57 ×10−11

4.44 ×10−16

4.86 ×10−9

QRFPR

pyroglutamylated RFamide peptide receptor

0.00042153

0.00013487

0.00113149

  1. The calculated probability of the DBGM summative C-Score being as extreme based on the mean and standard deviation of each analysis. The most consistently extreme probabilities were seen in PKD1L2 and MTCH2.
  2. DBGM difference between group mean.
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