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Table 1 Gene set enrichment analysis

From: Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood

Query*

Adjusted p-value**

Term size***

Intersection size****

Term ID

Term name

Intersection with WikiPathway

CBT_ORA

0.014

49

5

WP:WP5039

SARS-CoV-2 innate immunity evasion and cell-specific immune response

CXCL1,PPBP,PF4,CXCR2,CXCL5

CBT_ORA

0.037

91

8

WP:WP111

Electron transport chain (OXPHOS system in mitochondria)

MT-ND3,ATP5F1E,MT-ND1,MT-ATP6,MT-CO2,MT-CO3,MT-ND4,MT-CO1

CTG_ORA

<0.001

46

10

WP:WP286

IL-3 signaling pathway

FOS,CSF2RB,GAB2,HCK,LYN,MAPK3,RAF1,STAT3,STAT5B,PIK3CD

CTG_ORA

0.001

49

10

WP:WP395

IL-4 signaling pathway

FOS,IRS2,CEBPB,GAB2,NFIL3,MAPK3,STAT6,STAT3,STAT5B,PIK3CD

CTG_ORA

0.002

26

3

WP:WP4564

Neural crest cell migration during development

MMP9,EPHB4,FOS

CTG_ORA

0.003

28

3

WP:WP4565

Neural crest cell migration in cancer

MMP9,EPHB4,FOS

CTG_ORA

0.004

29

7

WP:WP3972

PDGFR-beta pathway

FOS,MAPK3,RAF1,MAP2K4,STAT6,STAT3,STAT5B

CTG_ORA

0.006

29

2

WP:WP4808

Endochondral ossification with skeletal dysplasias

MMP9,ALPL

CTG_ORA

0.006

29

2

WP:WP474

Endochondral osssification

MMP9,ALPL

CTG_ORA

0.006

56

2

WP:WP2324

AGE/RAGE pathway

MMP9,ALPL

CTG_ORA

0.008

48

10

WP:WP304

Kit receptor signaling pathway

FOS,GAB2,SH2B2,LYN,MAPK3,RAF1,STAT3,STAT5B,CRK,RPS6KA1

CTG_ORA

0.011

37

8

WP:WP127

IL-5 signaling pathway

FOS,CSF2RB,LYN,MAPK3,RAF1,STAT3,STAT5B,RPS6KA1

CTG_ORA

0.013

31

7

WP:WP313

Signaling of hepatocyte growth factor receptor

FOS,PTEN,MAPK3,RAF1,STAT3,CRK,PXN

CTG_ORA

0.015

110

16

WP:WP3929

Chemokine signaling pathway

CXCR2,TIAM2,HCK,NCF1,LYN,ARRB2,GNB2,PREX1,MAPK3,RAF1,STAT3,STAT5B,CRK,WAS,PXN,PIK3CD

CTG_ORA

0.031

15

3

WP:WP3599

Transcription factor regulation in adipogenesis

IRS2,CEBPD,CEBPB

CTG_CR_ORA

0.002

110

13

WP:WP3929

Chemokine signaling pathway

WAS,PXN,HCK,MAPK3,PREX1,ARRB2,PIK3R5,VAV1,NCF1,CXCL16,PIK3CD,GNB2,GRB2

CTG_CR_ORA

0.006

46

8

WP:WP286

IL-3 signaling pathway

GAB2,CSF2RB,HCK,MAPK3,PTPN6,VAV1,PIK3CD,GRB2

CTG_CR_ORA

0.009

48

8

WP:WP304

Kit receptor signaling pathway

GAB2,MAPK3,PTPN6,RPS6KA1,VAV1,SH2B2,JUNB,GRB2

CTG_CR_ORA

0.016

115

12

WP:WP306

Focal adhesion

ACTN1,PXN,HCK,MAPK3,CCND2,VASP,TLN1,VAV1,ZYX,ITGA5,PIK3CD,GRB2

CTG_CR_ORA

0.032

31

6

WP:WP3937

Microglia pathogen phagocytosis pathway

HCK,PTPN6,VAV1,NCF1,ITGB2,PIK3CD

  1. *Query refers to the gene sets used. CBT: 560 genes differentially expressed after the intervention; CTG: 608 genes associated with the CTG repeat; CTG_CR: 97 genes associated with both CTG repeat and compound response; ORA over-representation analysis
  2. **p-values associated with the finding after correction for multiple testing
  3. ***Number of genes in the identified pathway
  4. ****Number of genes in the provided gene set overlapping with the pathway