TABLE 2.
List of the overrepresented pathway formatted with the variant-containing-genes identified in patients with non-syndromic cleft palate only (NSCPO).
Pathway ID | Term description | Observed gene count | Background gene count | False discovery rate | Matching proteins in your network |
hsa00670* | One carbon pool by folate | 6 | 20 | 3.63e-11 | MTHFD1, FTCD, TYMS, SHMT1, MTR, MTHFR |
hsa01523* | Antifolate resistance | 3 | 31 | 0.00038 | TYMS, SHMT1, MTHFR |
hsa01100 | Metabolic pathways | 8 | 1250 | 0.0027 | MTHFD1, FTCD, TYMS, SHMT1, ACACB, POMGNT2, MTR, MTHFR |
hsa04974 | Protein digestion and absorption | 3 | 90 | 0.0039 | COL11A1, COL11A2, COL2A1 |
hsa04330 | Notch signaling pathway | 2 | 48 | 0.0262 | CREBBP, JAG2 |
hsa01230* | Biosynthesis of amino acids | 2 | 72 | 0.0460 | SHMT1, MTR |
hsa04520 | Adherens junction | 2 | 71 | 0.0460 | CDH1, CREBBP |
hsa05200 | Pathways in cancer | 4 | 515 | 0.0460 | LRP6, CDH1, CREBBP, JAG2 |
∗Pathway found only in NSCPO.