Table 3.

Summary of the ORA

Gene ontology: biological processes
	Description	C	O	E	R	pValue	FDR
GO:0051276	Chromosome organization	1143	165	97.67	1.69	5.59E−12	5.08E−08
GO:0033043	Regulation of organelle organization	1245	175	106.39	1.64	1.16E−11	5.26E−08
GO:0007049	Cell cycle	1739	223	148.60	1.50	1.15E−10	3.48E−07
GO:0006915	Apoptotic process	1911	239	163.30	1.46	2.52E−10	5.74E−07
GO:0010941	Regulation of cell death	1648	210	140.83	1.49	7.83E−10	1.42E−06
GO:0006325	Chromatin organization	741	112	63.32	1.77	1.35E−09	1.90E−06
GO:0033554	Cellular response to stress	1867	231	159.54	1.45	1.47E−09	1.90E−06
GO:0010942	Positive regulation of cell death	660	102	56.40	1.81	2.28E−09	2.60E−06
GO:0010629	Negative regulation of gene expression	1733	216	148.09	1.46	3.00E−09	2.87E−06
GO:0034613	Cellular protein localization	1815	224	155.10	1.44	3.44E−09	2.87E−06
Gene ontology: molecular function
GO:0003723	RNA binding	1603	203	131.47	1.54	7.52E−11	8.28E−08
GO:0019904	Protein domain specific binding	684	106	56.10	1.89	8.82E−11	8.28E−08
GO:0001067	Regulatory region nucleic acid binding	898	129	73.65	1.75	1.39E−10	8.70E−08
GO:0044212	Transcription regulatory region DNA binding	896	128	73.48	1.74	2.38E−10	1.12E−07
GO:0043565	Sequence-specific DNA binding	1097	146	89.97	1.62	1.87E−09	7.02E−07
GO:0003690	Double-stranded DNA binding	915	126	75.04	1.68	3.41E−09	1.07E−06
GO:0000976	Transcription regulatory region sequence-specific DNA binding	781	111	64.05	1.73	5.41E−09	1.45E−06
GO:1990837	Sequence-specific double-stranded DNA binding	823	115	67.50	1.70	7.55E−09	1.77E−06
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	729	103	59.79	1.72	2.69E−08	5.62E−06
GO:0001012	RNA polymerase II regulatory region DNA binding	735	103	60.28	1.71	4.11E−08	7.72E−06
Human Phenotype Ontology
HP:0002346	Head tremor	20	10	1.87	5.36	3.48E−06	0.016253
HP:0011337	Abnormality of mouth size	269	43	25.09	1.71	2.13E−04	0.167774
HP:0004097	Deviation of finger	320	49	29.85	1.64	2.23E−04	0.167774
HP:0000311	Round face	73	17	6.81	2.50	2.80E−04	0.167774
HP:0000219	Thin upper lip vermilion	137	26	12.78	2.03	2.84E−04	0.167774
HP:0011228	Horizontal eyebrow	8	5	0.75	6.70	3.04E−04	0.167774
HP:0005306	Capillary hemangioma	26	9	2.43	3.71	3.59E−04	0.167774
HP:0001894	Thrombocytosis	21	8	1.96	4.08	3.63E−04	0.167774
HP:0100559	Lower limb asymmetry	21	8	1.96	4.08	3.63E−04	0.167774
HP:0000107	Renal cyst	203	34	18.93	1.80	4.21E−04	0.167774

C reference genes in the category, O observed number of genes in the category, E expected number of genes in the category, R ratio of enrichment, pValue p value from hypergeometric test, FDR false discovery rate