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Table 2 DMR-associated gene pathways or gene sets.

From: Sperm DNA methylation epimutation biomarker for paternal offspring autism susceptibility

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

  1. 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