Table 2.

Select focus genes with ^ap-values <0.0005 from the sequencing kernel association test

GENE	Chromosome	bMolecular Function	bBiological Function
BMP3 Bone morphogenetic protein 3	4	BMP receptor binding; cytokine activity; growth factor activity; transforming growth factor beta receptor binding	cell-cell signaling; cell development; cell differentiation; growth
POLR2J3 Polymerase (RNA) II subunit J	7	DNA binding; protein dimerization activity; RNA polymerase II activity	transcription from RNA polymerase II promoter
C1RL Complement C1r subcomponent like	12	hydrolase activity; peptidase activity; serine-type endopeptidase activity; serine-type peptidase activity	complement activation, immune system process; innate immune response; proteolysis
NME4 Nucleoside diphosphate kinase 4	16	ATP binding; calcium ion binding; kinase activity; lipid binding; metal ion binding; nucleoside; protein binding	CTP biosynthetic process; GTP biosynthetic process; lipid transport; nucleobase-containing small molecule
POFUT2 Protein O-fucosyltransferase 2	21	fucosyltransferase activity; peptide-O-fucosyltransferase activity; transferase activity; transferase activity, transferring glycosyl groups	carbohydrate metabolic process; cellular protein metabolic process; fucose metabolic process; fucosylation;
TMEM70 Transmembrane protein 70	8	Unknown	mitochondrial proton-transporting ATP synthase complex assembly
ASS1 Argininosuccinate synthase 1	9	amino acid binding; argininosuccinate synthase activity; ATP binding;	acute-phase response; aging; cellular response to interferon-gamma;

^aP-values determined by SKAT test and based on associations between aggregates of variants on a single gene and infertility

^bFunction determined by IPA analysis

Genes would not be significant after correction for multiple comparisons (Bonferroni p-value =2.8E-06).