TABLE 3.
Pathway Numbera | Number of Genes | Gene Hits (Cases) | Gene Hits (Comparison) | p (CNV) | p (corr)b | p (GWAS) | Description |
---|---|---|---|---|---|---|---|
MGI:5278 | 188 | 14 | 0 | 1.47E-05 | 0.002 | 0.030 | Abnormal cholesterol homeostasis |
MGI:3947 | 182 | 13 | 0 | 2.61E-05 | 0.004 | 0.023 | Abnormal cholesterol level |
MGI:180 | 169 | 13 | 0 | 2.61E-05 | 0.004 | 0.026 | Abnormal circulating cholesterol level |
GO:16746 | 214 | 14 | 0 | 1.42E-04 | 0.009 | 0.004 | Transferase activity, transferring acyl groups |
GO:8415 | 203 | 13 | 0 | 1.43E-04 | 0.009 | 0.003 | Acyltransferase activity |
GO:16747 | 205 | 13 | 0 | 1.43E-04 | 0.008 | 0.004 | Transferase activity, transferring acyl groups other than amino-acyl groups |
GO:51298 | 11 | 8 | 0 | 6.95E-04 | 0.050 | 0.033 | Centrosome duplication |
GO:32680 | 34 | 7 | 1 | 8.83E-03 | 0.341 | 0.014 | Regulation of tumor necrosis factor production |
GO:5261 | 271 | 17 | 6 | 1.84E-02 | 0.547 | 0.042 | Cation channel activity |
GO:7417 | 441 | 28 | 10 | 2.77E-02 | 0.683 | 0.002 | Central nervous system development |
GO:16247 | 56 | 8 | 2 | 3.07E-02 | 0.719 | 0.026 | Channel regulator activity |
GO:8233 | 572 | 25 | 8 | 4.89E-02 | 0.848 | 0.037 | Peptidase activity |
GO:70011 | 553 | 25 | 8 | 4.89E-02 | 0.848 | 0.038 | Peptidase activity, acting on L-amino acid peptides |
a GO=Gene Ontology; MGI=Mouse Genome Informatics
b Represents the probability of obtaining by chance at least one pathway with a pathway-specific p value for enrichment of case CNV hits at least as significant as that observed in the actual data. Note that genes <1 Mb apart in the same pathway were collapsed into one signal.