Table 5. The results of gene ontology (GO) analysis of candidate genes associated with total collagen contents trait from GWAS analysis

GO ID	Description	#Genes	Fold enrichment	p-value	Gene name
Biological process
GO:1902309	Negative regulation of peptidyl-serine dephosphorylation	2	181.846	0.011	PPP1R16B, SWAP70
GO:0051444	Negative regulation of ubiquitin-protein transferase activity	2	51.956	0.037	ABL1, PSEN1
GO:0097120	Receptor localization to synapse	2	40.410	0.048	RELN, SYNJ2BP
GO:0050852	T cell receptor signaling pathway	3	7.577	0.059	ABL1, PSEN1, SKAP1
GO:0007175	Negative regulation of epidermal growth factor-activated receptor activity	2	30.308	0.063	ZFYVE28, PSEN1
GO:0061053	Somite development	2	25.978	0.074	RAD51B, MTHFD1
GO:0032793	Positive regulation of CREB transcription factor activity	2	24.246	0.079	CRTC3, RELN
GO:0003333	Amino acid transmembrane transport	2	20.205	0.094	SLC7A14, SLC38A6
Cellular component
GO:0005829	Cytosol	25	1.881	0.002	CRTC3, CALCOCO2, SLC7A14, GPHN, SPATA7, GIGYF2, ZFYVE28, DOCK10, POGZ, ABL1, DENND5A, CERT1, HERC6, PRKCH, PLEKHA5, YLPM1, MED27, PLEKHA7, DAAM1, MTHFD1, DPYD, SERGEF, SLC28A1, SKAP1, RBMS3
GO:0005654	Nucleoplasm	20	2.037	0.003	RNASEH2B, CRTC3, SLC7A14, PLEKHA5, RSF1, EFCAB6, PSEN1, MED27, PLEKHA7, SPATA7, DOCK10, MYO1C, CUX1, POGZ, DPF3, MAML3, SERGEF, CERT1, SKAP1, HERC6
GO:0015629	Actin cytoskeleton	5	6.402	0.008	MACF1, ABLIM1, MYO1C, SWAP70, ABL1
GO:0048471	Perinuclear region of cytoplasm	7	3.399	0.016	PPP1R16B, CALCOCO2, ABL1, PSEN1, SYNJ2BP, CERT1, FGFR3
GO:0005737	Cytoplasm	27	1.547	0.017	MACF1, CRTC3, NCAPG, FMN1, IQGAP2, GPHN, FARS2, ABLIM1, DACH1, RELN, GMDS, RSRC1, RNF150, TNS4, GABBR2, PRKCH, SWAP70, KLHL1, GAB2, CDYL, SERPINB6, PSMA3, MYO1C, DPYD, PPP1R12B, SKAP1, GPHB5
GO:0016607	Nuclear speck	6	3.853	0.019	PPP1R16B, RSRC1, YLPM1, MAML3, CDYL, SLC28A1
GO:0042995	Cell projection	3	6.031	0.087	PPP1R16B, MACF1, STON1

GWAS, genome-wide association studies.