Table 2

Functional enrichment analysis on the region of maximum linkage. EFO terms enriched by 137 SNPs from the region with LOD=4.09 (chr2:163738883–165107298). EFO terms associated with cardiorespiratory traits are highlighted in bold

	EFO term identfier	Raw p value	OR	Expected count	Count	Size	EFO term description	Parental term cluster
1	EFO:0007677	1.07e−08	78.07	0.07	5	123	LDL peak particle diameter measurement	LDL peak particle diameter measurement
2	EFO:0007678	1.07e−08	78.07	0.07	5	123	Total fat intake measurement	Total fat intake measurement
3	EFO:0006335	4.10e−79	71.21	1.52	60	2694	Systolic blood pressure	Vital signs
4	EFO:0004325	1.41e−65	41.42	2.56	60	4553	Blood pressure	Vital signs
5	EFO:0003884	2.16e−20	35.73	0.55	17	978	Chronic kidney disease	Kidney disease
6	EFO:0005763	5.48e−24	33.01	0.76	21	1348	Pulse pressure measurement	Pulse pressure measurement
7	EFO:0004303	6.79e−60	32.90	3.20	60	5689	Vital signs	Vital signs
8	EFO:0006995	3.43e−16	30.42	0.52	14	921	Response to diisocyanate	Process
9	GO:0097332	3.11e−23	30.28	0.83	21	1467	Response to antipsychotic drug	Process
10	EFO:0003086	3.95e−12	10.82	1.78	17	3162	Kidney disease	Kidney disease
11	EFO:0000270	3.84e−08	7.22	2.13	14	3793	Asthma	Bronchial disease
12	EFO:1002018	5.90e−08	6.96	2.21	14	3929	Bronchial disease	Bronchial disease
13	GO:0050896	1.56e−09	3.72	12.01	36	21 335	Response to stimulus	Process
14	GO:0008150	6.59e− 09	3.09	19.28	46	34 266	Biological process	Process
15	BFO:0000007	9.78e−09	3.04	19.52	46	34 697	Process	Process