Table 4 Significantly enriched pathways (adjusted p-value \(\le\) 0.01) from KEGG, Reactome, and Wikipathway for the genes obtained after the incomplete segregation filter.

From: Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families

Pathways

Pathway ID

Adjusted p value

Total number of genes in pathway

No of involved genes in pathway

Genes

ECM-receptor interaction

KEGG:04512

6.65 × 10\(^{-8}\)

89

17

LAMA5,HSPG2,COL6A5,FRAS1, TNN,TNC,VWF,THBS2, COL6A6,COL6A3,LAMB2,LAMB1,LAMA1,ITGB7,ITGB6, ITGB4,ITGA10

Focal adhesion

KEGG:04510

1.12 × 10\(^{-5}\)

202

22

LAMA5,COL6A5,VEGFC,PIP5K1C, TNN,TNC,VWF,SHC3,THBS2, COL6A6,COL6A3,LAMB2, LAMB1,LAMA1,MYLK4, MYLK2,FLNC,FLNB,ITGB7, ITGB6,ITGB4,ITGA10

Protein digestion and absorption

KEGG:04974

4.91 × 10\(^{-3}\)

103

12

COL19A1,COL6A5,COL18A1,SLC9A3, COL7A1,COL6A6,COL6A3, COL5A3,COL5A1,COL15A1,COL14A1,COL11A1

Extracellular matrix organization

REAC:R-HSA-1474244

4.74 × 10\(^{-7}\)

297

31

PLEC,FBN3,LTBP1,COL19A1,LAMA5,HSPG2,COL6A5,COL18A1,NID1, PTPRS,TNN,TNC,VWF,COLGALT2, COL7A1,COL6A6,COL6A3,COL5A3,COL5A1,COL15A1,COL14A1, COL11A1,CAPN1,LTBP4,LAMB2, LAMB1,LAMA1,ITGB7,ITGB6, ITGB4,ITGA10

ECM proteoglycans

REAC:R-HSA-3000178

1.68 × 10\(^{-5}\)

75

14

LAMA5,HSPG2,COL6A5,PTPRS,TNN,TNC, COL6A6,COL6A3,COL5A3,COL5A1, LAMB2,LAMB1,LAMA1,ITGB6

Collagen chain trimerization

REAC:R-HSA-8948216

2.09 × 10\(^{-5}\)

44

11

COL19A1,COL6A5,COL18A1,COL7A1, COL6A6,COL6A3,COL5A3,COL5A1, COL15A1,COL14A1,COL11A1

Laminin interactions

REAC:R-HSA-3000157

6.51 × 10\(^{-5}\)

30

9

LAMA5,HSPG2,COL18A1,NID1, COL7A1,LAMB2,LAMB1,LAMA1,ITGB4

Assembly of collagen fibrils and other multimeric structures

REAC:R-HSA-2022090

7.32 × 10\(^{-5}\)

60

12

PLEC,COL6A5,COL18A1,COL7A1,COL6A6, COL6A3,COL5A3,COL5A1,COL15A1, COL14A1,COL11A1,ITGB4

Collagen formation

REAC:R-HSA-1474290

1.56 × 10\(^{-4}\)

89

14

PLEC,COL19A1,COL6A5,COL18A1, COLGALT2,COL7A1,COL6A6, COL6A3,COL5A3,COL5A1,COL15A1, COL14A1,COL11A1,ITGB4

Collagen biosynthesis and modifying enzymes

REAC:R-HSA-1650814

2.60 × 10\(^{-4}\)

67

12

COL19A1,COL6A5,COL18A1,COLGALT2,COL7A1,COL6A6, COL6A3,COL5A3,COL5A1, COL15A1,COL14A1,COL11A1

Degradation of the extracellular matrix

REAC:R-HSA-1474228

3.97 × 10\(^{-4}\)

140

17

FBN3,COL19A1,LAMA5,HSPG2,COL6A5, COL18A1,NID1,COL7A1,COL6A6,COL6A3, COL5A3,COL5A1,COL15A1,COL14A1, COL11A1,CAPN1,LAMB1

Integrin cell surface interactions

REAC:R-HSA-216083

5.04 × 10\(^{-4}\)

84

13

HSPG2,COL6A5,COL18A1,TNC,VWF, COL7A1,COL6A6,COL6A3,COL5A3, COL5A1,ITGB7,ITGB6,ITGA10

Collagen degradation

REAC:R-HSA-1442490

1.19 × 10\(^{-3}\)

64

11

COL19A1,COL6A5,COL18A1,COL7A1, COL6A6,COL6A3,COL5A3,COL5A1, COL15A1,COL14A1,COL11A1

Non-integrin membrane-ECM interactions

REAC:R-HSA-3000171

3.34 × 10\(^{-3}\)

58

10

LAMA5,HSPG2,TNC,COL5A3,COL5A1, COL11A1,LAMB2,LAMB1,LAMA1,ITGB4

Focal adhesion PI3K Akt mTOR signaling pathway

WP:WP3932

6.10 × 10\(^{-3}\)

301

23

LAMA5,FGFR3,EPHA2,VEGFC,PIK3C2A, PIK3IP1,NOS1,PFKFB3,PPP2R1A,TNN, TNC,VWF,THBS2,COL5A3,COL5A1, COL11A1,LAMB2,LAMB1,LAMA1,ITGB7, ITGB6,ITGB4,ITGA10