Table 2.
Pathways enriched for genes with novel eQTL in the PAH Cohort.
| Gene Set | Description | Size | Overlap | Expectation | Enrichment Ratio | p-Value | FDR |
|---|---|---|---|---|---|---|---|
| hsa04742 | Taste transduction | 48 | 8 | 0.87 | 9.24 | 1.78 × 10−6 | 5.72 × 10−4 |
| hsa05332 | Graft-versus-host disease | 32 | 6 | 0.58 | 10.40 | 1.85 × 10−5 | 2.86 × 10−3 |
| hsa05320 | Autoimmune thyroid disease | 34 | 6 | 0.61 | 9.79 | 2.66 × 10−5 | 2.86 × 10−3 |
| hsa05330 | Allograft rejection | 33 | 5 | 0.59 | 8.40 | 2.75 × 10−4 | 0.02 |
| hsa04940 | Type I diabetes mellitus | 36 | 5 | 0.65 | 7.70 | 4.19 × 10−4 | 0.03 |
Results of the over-representation analysis using the Kyoto Encyclopedia of Genes and (KEGG) pathway database. Column names: Gene set = searchable identifier of the gene set in KEGG; Size = number of genes participating in the gene set and overlap gives the number of genes in the gene set that overlap with the queried gene list; Expectation = number of genes that are expected to be shared between the queried gene list and the gene set if the queried list was a random sample of the background gene list; Enrichment ratio = fold enrichment of the gene set for the queried gene list; p-value = enrichment significance of the Fisher‘s exact test; FDR = false discovery rate adjusted significance.