Table 2.
Top 20 enrichment items of the 4,319 putative enhancers by GREAT functional annotation (detailed information was listed in Supplementary Table 4).
| Term name | FDR Q-value | Observed region hits | Region set coverage |
|---|---|---|---|
| Muscle weakness | 1.03E-04 | 185 | 4.83E-02 |
| Skeletal muscle atrophy | 7.88E-05 | 119 | 3.10E-02 |
| Increased serum lactate | 3.43E-04 | 41 | 1.07E-02 |
| Abnormality of muscle morphology | 3.25E-04 | 280 | 7.30E-02 |
| Global developmental delay | 4.29E-04 | 347 | 9.05E-02 |
| Abnormal myelination | 4.67E-04 | 98 | 2.56E-02 |
| Abnormality of lipid metabolism | 5.64E-04 | 55 | 1.43E-02 |
| Muscular hypotonia | 2.80E-03 | 344 | 8.97E-02 |
| Abnormality of skeletal muscles | 2.54E-03 | 145 | 3.78E-02 |
| Abnormality of muscle size | 3.17E-03 | 148 | 3.86E-02 |
| Hypertrophic cardiomyopathy | 4.65E-03 | 49 | 1.28E-02 |
| Narrow vertebral interpedicular distance | 4.65E-03 | 7 | 1.83E-03 |
| Abnormal CSF metabolite level | 4.77E-03 | 27 | 7.04E-03 |
| Excessive daytime somnolence | 5.01E-03 | 7 | 1.83E-03 |
| Abnormality of muscle fibers | 4.88E-03 | 44 | 1.15E-02 |
| Increased CSF lactate | 4.90E-03 | 25 | 6.52E-03 |
| Lactic acidosis | 4.95E-03 | 53 | 1.38E-02 |
| Cardiomyopathy | 5.03E-03 | 99 | 2.58E-02 |
| Lipid accumulation in hepatocytes | 5.09E-03 | 36 | 9.39E-03 |
| Abnormality of the liver | 5.02E-03 | 160 | 4.17E-02 |