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Table 2 Biological processes for 187 genes enriched in DNMs

From: Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

Gene Ontology Term

Number of genes

Fold enrichment

P value

FDR

GO:0048731

system development

124

2.548578

3.01E-31

9.52E-28

GO:0007275

multicellular organism development

128

2.449113

4.52E-31

9.52E-28

GO:0007399

nervous system development

89

3.659853

1.31E-30

1.84E-27

GO:0044707

single-multicellular organism process

136

2.152079

3.94E-28

4.15E-25

GO:0048856

anatomical structure development

130

2.234834

1.25E-27

1.01E-24

GO:0045893

positive regulation of transcription, DNA-templated

71

4.31298

1.68E-27

1.01E-24

GO:1,903,508

positive regulation of nucleic acid-templated transcription

71

4.31298

1.68E-27

1.01E-24

GO:1,902,680

positive regulation of RNA biosynthetic process

71

4.290988

2.28E-27

1.19E-24

GO:0044767

single-organism developmental process

134

2.150094

2.53E-27

1.19E-24

GO:0010628

positive regulation of gene expression

79

3.696033

1.05E-26

4.43E-24