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Table 2 Top 5 terms of the Gene Ontology, Pathway, and Disease enrichment of 38 CCT-associated genes

From: Functional relevance for central cornea thickness-associated genetic variants by using integrative analyses

Term

Name

P-value

FDR B&H

GO: Molecular Function

 GO:0000988

transcription factor activity, protein binding

1.47E-04

3.62E-02

 GO:0005201

extracellular matrix structural constituent

4.54E-04

3.88E-02

 GO:0033293

monocarboxylic acid binding

4.72E-04

3.88E-02

 GO:0008013

beta-catenin binding

6.68E-04

4.13E-02

 GO:0000989

transcription factor activity, transcription factor binding

1.01E-03

4.96E-02

GO: Biological Process

 GO:0061448

connective tissue development

6.57E-07

9.12E-04

 GO:0072359

circulatory system development

3.05E-06

1.41E-03

 GO:0072358

cardiovascular system development

3.05E-06

1.41E-03

 GO:0001501

skeletal system development

6.12E-06

2.12E-03

 GO:0048646

anatomical structure formation involved in morphogenesis

2.15E-05

5.58E-03

GO: Cellular Component

 GO:0005604

basement membrane

5.18E-05

7.82E-03

 GO:0044420

extracellular matrix component

1.41E-04

1.06E-02

 GO:0016327

apicolateral plasma membrane

5.81E-04

1.84E-02

 GO:0043218

compact myelin

5.81E-04

1.84E-02

 GO:0005581

collagen trimer

6.08E-04

1.84E-02

Pathway

 M3005

Genes encoding collagen proteins

1.41E-04

3.09E-02

 1,470,926

Collagen chain trimerization

1.72E-04

3.09E-02

 83,105

Pathways in cancer

2.51E-04

3.09E-02

 M17668

Rho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation

3.41E-04

3.09E-02

 1,270,247

Assembly of collagen fibrils and other multimeric structures

3.56E-04

3.09E-02

Disease

 C0022578

Keratoconus

6.92E-11

8.68E-08

 C1096274

Corneal thinning

1.21E-05

7.56E-03

 C0544008

Chandler syndrom

6.00E-05

1.88E-02

 C1857569

Corneal endothelial dystrophy 2

6.00E-05

1.88E-02

 C3542501

Acute inflammatpry demyelinating polyneuropathy

1.12E-04

2.78E-02

  1. The list of CCT-associated genes was set as the input seed. Enrichment P-values were calculated using probability density function, and the Benjamini-Hochberg procedure was used to correct the P values (FDR) of the enriched GO terms