Table 2.
Genes with altered expression in the proband.
| Gene | log2FoldChange | Description | p Value | padj |
|---|---|---|---|---|
| GNG12 | 1.719707224 | Upregulated in the Patient sample | 4.81 × 10−9 | 5.02 × 10−5 |
| HCP5 | 1.617432091 | Upregulated in the Patient sample | 3.37 × 10−7 | 0.001757018 |
| GGACT | 1.35253954 | Upregulated in the Patient sample | 1.74 × 10−8 | 0.000120784 |
| HAPLN3 | 1.269895566 | Upregulated in the Patient sample | 2.34 × 10−5 | 0.044419951 |
| ICOS | 1.228236573 | Upregulated in the Patient sample | 2.58 × 10−9 | 5.02 × 10−5 |
| TRIM26 | 0.991872296 | Upregulated in the Patient sample | 1.60 × 10−8 | 0.0371298 |
| PKHD1L1 | −0.998015573 | Downregulated in the patient sample | 8.08 × 10−7 | 0.002466581 |
| DST | −1.109285101 | Downregulated in the patient sample | 5.29 × 10−7 | 0.002209546 |
| CCZ1 | −1.313033217 | Downregulated in the patient sample | 2.33 × 10−5 | 0.044419951 |
| MTRNR2L8 | −1.319578464 | Downregulated in the patient sample | 2.83 × 10−6 | 0.007389326 |
| PTCH1 | −1.559860559 | Downregulated in the patient sample | 8.27 × 10−7 | 0.002466581 |