Table 1.

Functional enrichment analysis (FEA) and specificity analysis of rare genic CNVs in CeAD patients. Left hand columns show top findings of GeneDecks enrichment analysis for genes covering rare CNVs of CeAD patients with adjusted p-values. The frequency of rare CNVs at genes belonging to the enriched gene sets was compared between CeAD patients and control subjects (non-CeAD IS disease controls plus population controls). Since the findings suggested CeAD to be associated with cardiovascular system development, this candidate gene set was subsequently tested formally for disease association (see table 2). P-values of FEA were Bonferroni-corrected for multiple testing by default. Crude P-values of Case/Control comparisons were multiplied by 10 to adjust for multiple testing.

Functional Enrichment Analysis		Case/Control Comparison
Identified gene sets in GeneOntology – biological processes	adjusted p-value	CeAD (n=833)	Controls (n=2040)	adjusted p-value
Small molecule metabolic process	1.23e-10	29	41	0.234
Muscle organ development	3.57e-07	9	3	0.013
Multicellular organismal development	4.91e-07	18	16	0.036
Xenobiotic catabolic process	9.17e-07	1	0	1.000
Regulation of transcription, DNA-templated	1.44e-06	18	41	1.000
Cell differentiation	1.61e-05	18	13	0.010
Signal transduction	1.93e-05	19	28	1.000
Proteolysis	3.12e-05	8	5	0.145
Cell adhesion	3.21e-05	13	12	0.147
Cell surface receptor signaling pathways	3.59e-05	8	5	0.145
Apoptotic process	3.86e-05	12	14	0.791