Table 7.
Significant Gene Ontology Groups Identified for the 141 Genes Associated With Cpc-PH and PAH Compared With Ipc-PH Controls
| GO Group | Total Number of Genes in GO Group |
Observed Number of Variant Genes in GO Group |
Expected Number of Variant Genes in GO Group |
P Value | FDR | Genes |
|---|---|---|---|---|---|---|
| Actin binding | 353 | 8 | 2.1 | 0.001 | 0.06 |
PARVB, FLII, SSH3, SYNE2, LIMCH1, MYO9B, MACF1, MYH11 |
| Structural molecule activity |
608 | 10 | 3.6 | 0.003 | 0.11 |
ROPN1B, MOSPD3, FLG, RPSA, CCDC108, COL4A3, COL11A2, COL18A1, LAMA5, MYH11 |
| Extracellular matrix |
184 | 5 | 1.1 | 0.004 | 0.14 |
COL18A1, COL4A3, COL11A2, FREM1, LAMA5 |
| Basement membrane |
88 | 4 | 0.5 | 0.002 | 0.14 |
COL18A1, COL4A3, FREM1, LAMA5 |
| Transferase activity |
8 | 2 | 0.05 | 0.0009 | 0.06 | SHMT1, ALDH1L1 |
| Pre-ribosome | 16 | 2 | 0.1 | 0.004 | 0.14 | UTP14C, RPSA |
| MHC Class II protein complex |
16 | 2 | 0.1 | 0.004 | 0.14 |
HLA-DPA1, HLA-DPB1 |
FDR = false discovery rate; GO = gene ontology. Other abbreviations as in Table 1.