Table 3.
Over-represented gene ontology terms among DEGs in FKBP14-kEDS and PLOD1-kEDS patient-derived fibroblasts versus controls.
| Gene Ontology | Description | Enrichment Ratio | p-value | FDR |
|---|---|---|---|---|
| FKBP14-kEDS: Biological Process | ||||
| GO:0003012 | muscle system process | 5.52 | 3.19 × 10−5 | 2.42 × 10−2 |
| GO:0007586 | digestion | 14.1 | 1.74 × 10−4 | 6.60 × 10−2 |
| FKBP14-kEDS: Cellular Component | ||||
| GO:0005578 | proteinaceous extracellular matrix | 5.07 | 3.90 × 10−4 | 5.77 × 10−2 |
| GO:0043235 | receptor complex | 5.28 | 8.53 × 10−4 | 6.32 × 10−2 |
| PLOD1-kEDS: Biological Process | ||||
| GO:0007219 | Notch signaling pathway | 8.86 | 1.26 × 10−5 | 9.58 × 10−3 |
| GO:0007423 | sensory organ development | 4.77 | 3.84 × 10−5 | 1.46 × 10−2 |
| GO:0030048 | actin filament-based movement | 10.7 | 9.73 × 10−5 | 2.02 × 10−2 |
| GO:0045730 | respiratory burst | 31.2 | 1.07 × 10−4 | 2.02 × 10−5 |
| GO:0060326 | cell chemotaxis | 7.34 | 1.56 × 10−4 | 2.38 × 10−2 |
| GO:0070098 | chemokine-mediated signaling pathway | 23.0 | 2.77 × 10−4 | 3.50 × 10−2 |
| GO:0050920 | regulation of chemotaxis | 6.74 | 8.43 × 10−4 | 9.16 × 10−2 |
| GO:0042490 | mechanoreceptor differentiation | 14.6 | 1.10 × 10−3 | 9.61 × 10−2 |
| GO:0001655 | urogenital system development | 4.30 | 1.14 × 10−3 | 9.61 × 10−2 |
| PLOD1-kEDS: Cellular Component | ||||
| GO:0005578 | proteinaceous extracellular matrix | 5.73 | 1.77 × 10−4 | 2.61 × 10−2 |
| GO:1990351 | transporter complex | 6.36 | 1.03 × 10−3 | 5.96 × 10−2 |
| GO:0044420 | extracellular matrix component | 7.88 | 1.56 × 10−3 | 5.96 × 10−2 |
| GO:0031594 | neuromuscular junction | 12.7 | 1.61 × 10−3 | 5.96 × 10−2 |
| GO:0043235 | receptor complex | 4.98 | 3.03 × 10−3 | 8.97 × 10−2 |