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Table 5 The diseases associated to CD-SNVs and small indels

From: Whole exome sequencing of a single osteosarcoma case—integrative analysis with whole transcriptome RNA-seq data

Disease name

p value

Number of genes associated

Number of variances found

Tumour tissue

Control tissue

CD-SNVs

Cancer

7.04E-23

111

202

1

1

Tumourigenesis

8.21E-16

111

202

1

1

Cancers and tumours

3.37E-15

111

202

1

1

Organismal injury and abnormalities

9.45E-17

105

194

1

1

Carcinoma

3.46E-25

99

186

1

1

Solid tumour

2.64E-24

99

186

1

1

Epithelial neoplasia

3.34E-23

99

186

1

1

Epithelioma

3.34E-23

99

186

1

1

Breast or colorectal cancer

5.45E-23

83

164

1

1

Malignant neoplasm of abdomen

6.93E-20

83

169

1

1

Bone marrow cancer

1.69E-03

15: CREBBP, EPHA2, FGFR2, KCNJ12, KMT2C, LILRB3, MUC17, MUC4, MYBPC3, NPM1, RARA, SMO, TCF3, TTN, TUBG1

43

1

0

Bone marrow cancer and tumours

1.69E-03

43

1

0

Small indels

Cancer

9.07E-03

6

6

1

1a

Hematologic cancer

2.36E-04

4

4

1

1a

Hematologic cancer and tumours

2.36E-04

4

4

1

1a

Hematological neoplasia

8.01E-04

4

4

1

1a

Lymphohematopoietic cancer

9.12E-04

4

4

1

1a

Disease of colon

7.88E-03

4

4

1

0

Hematological disease

8.15E-03

4

4

1

1a

Immunological disease

1.28E-02

4

4

1

1a

Gastrointestinal tract cancer

2.00E-02

4

4

1

0

Gastrointestinal tract cancer and tumours

2.02E-02

4

4

1

0

Tumourigenesis of bone tumour

7.04E-03

1: ALK

1

1

0

  1. aHere, only one gene PRR23C has a small indel in heterozygous form, which most likely does not affect the gene function. See Table 2.
  2. The bold data reflects the diseases directly associated to bone.