Table 2.

DMR-associated gene pathways or gene sets.

Pathway or gene set name	Total # of neighbors	Pathology gene set pathway	Overlap	Percent overlap	Overlapping genes	p value
Protein regulators of autism	313	Autism	19	6	RBFOX1, CD5, CCR5, GRIN1, GPHN, SLC7A5, SNTG2, RELN, ARHGAP32, OPRM1, DLGAP2, DIAPH3, CACNA1A, KCNMA1, TSHZ3, SLC25A12, NRXN3, SEMA3F, RORA	9.02E−05
Protein regulators of intellectual disability	616	Intellectual disability	28	4	SRGAP3, ERBB4, DMD, TG, AHI1, ANKRD11, CHL1, ST3GAL5, BCKDK, CDK19, DLGAP2, NARS2, PHF21A, KDM2B, CAMTA1, MCPH1, CREBBP, ARHGEF10, TCF4, LIMK1, STIM1, RELN, PRMT7, DPYSL2, SORL1, LRMDA, CDH18, EXOC4	3.42E−04
Protein regulators of neurodevelopmental disorder	273	Neurodevelopmental disorder	16	5	RBFOX1, SRGAP3, GRIN1, LIMK1, AHI1, DOCK3, ANKS1B, ELP4, ANKRD11, RELN, DPYSL2, ST3GAL5, AGAP1, MCPH1, CREBBP, TCF4	4.70E−04
Protein regulators of psychiatric disorder	538	Psychiatric disorder	25	4	GRIN2B, PDE2A, ERBB4, AHI1, CCKBR, ANKS1B, DLGAP1, CCDC141, OPRM1, PDLIM5, GABBR1, SORCS2, CREBBP, ARHGEF10, TCF4, DNMT1, RBFOX1, GPHN, USP46, RELN, DPYSL2, ADRA2C, IMMP2L, NRXN3, ALK	5.12E−04
Protein regulators of intellectual impairment	18	Intellectual impairment	4	21	GRIN2B, GRIN1, DMD, RELN	5.95E−04
Protein regulators of estrogen receptor-positive breast cancer	86	Estrogen receptor-positive breast cancer	8	9	KDM6B, PPARG, ERBB4, PIK3CD, NDRG1, CREBBP, SLC7A5, STIM1	6.90E−04
Protein regulators of behavioral disorder	147	Behavioral disorder	10	6	GRIN2B, GRIN1, ERBB4, PARK7, STX1A, RORA, DNMT1, TMEM173, AP2B1, OPRM1	1.80E−03
Protein regulators of severe visual impairment	14	Severe visual impairment	3	20	PAX2, AIPL1, MERTK	3.39E−03

The pathway total number of neighbors for genes, pathology gene set pathway, overlapping genes, percent overlap, overlapping gene symbols and statistical p value are presented