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Table 1 The full results of POCUS analysis for 29 OMIM diseases, over locus sizes of 100, 500 and 1,000 IDs at a threshold of 0.8

From: POCUS: mining genomic sequence annotation to predict disease genes

Disease (representative OMIM number)

Number of genes*

Genes sharing†

Correctly identified‡

 

Non-disease genes§

 

Total number of genes¶

 

Enrichment¥

   

100

500

1,000

 

100

500

1,000

 

100

500

1,000

 

100

500

1,000

Parkinson's disease (168600)

3

0

0

0

0

 

0

0

1

 

62

264

571

 

1

1

0

Lupus erythematosus, systematic (152700)

3

0

0

0

0

 

1

0

0

 

43

262

547

 

0

1

1

Glaucoma, primary open angle, juvenile-onset (137750)

3

2

0

0

0

 

0

0

0

 

59

279

527

 

1

1

1

Bardet Biedl (209900)

4

0

0

0

0

 

3

0

0

 

75

390

776

 

0

1

1

Meningioma, familial (607174)

4

2

1

0

0

 

6

17

10

 

69

363

722

 

2.46

0

0

Acute myelogenous leukemia, familial (601626)

4

4

0

0

0

 

0

0

0

 

84

385

771

 

1

1

1

Basal cell carcinoma (605462)

4

3

2

0

0

 

0

0

0

 

83

418

810

 

20.8

1

1

Adrenoleukodystrophy, autosomal neonatal form (202370)

4

4

2

0

0

 

0

3

3

 

76

369

733

 

19

0

0

Epidermolysis bullosa letalis (226700)

4

4

3

2

2

 

2

1

4

 

73

380

728

 

11

63.3

60.67

Familial adenomatous polyposis (175100)

4

4

3

2

0

 

8

12

4

 

64

371

727

 

4.36

13.3

0

Ovarian carcinoma (167000)

4

4

0

0

0

 

0

0

0

 

70

360

733

 

1

1

1

Hypertension (145500)

5

2

0

0

0

 

3

0

0

 

95

472

920

 

0

1

1

Alzheimer's disease (104300)

5

4

3

0

0

 

0

0

0

 

135

460

875

 

27

1

1

Charcot-Marie-Tooth disease, types 1A-1F (118200)

5

4

3

0

0

 

0

0

0

 

98

449

937

 

19.6

1

1

Gastric cancer (137215)

5

4

0

0

0

 

0

0

0

 

87

483

932

 

1

1

1

Cystic fibrosis (219700)

5

5

1

0

0

 

2

0

0

 

99

458

900

 

6.6

1

1

Inflammatory bowel disease (266600)

5

5

2

0

2

 

3

0

3

 

99

506

1,013

 

7.92

1

81.04

Long-segment Hirschsprung disease (142623)

5

5

0

0

0

 

0

0

0

 

102

468

972

 

1

1

1

Leber congenital amaurosis (204000)

6

5

5

0

0

 

4

0

0

 

125

508

1,120

 

11.6

1

1

Maturity onset diabetes of the young (606391)

6

5

2

0

0

 

0

0

0

 

111

551

1,078

 

18.5

1

1

Prostate cancer (176807)

6

5

0

0

0

 

2

0

0

 

128

550

1,157

 

0

1

1

Colorectal cancer, hereditary nonpolyposis (114500)

6

6

5

6

6

 

4

14

17

 

115

560

1,095

 

10.6

28

47.61

Epiphyseal dysplasia, multiple types 1-5 (132400)

7

6

6

3

0

 

4

0

0

 

135

596

1,232

 

11.6

85.1

1

Muscular dystrophy, limb-girdle, autosomal recessive (601173)

7

5

2

0

0

 

1

0

0

 

124

634

1,282

 

11.8

1

1

Diabetes mellitus, non-insulin dependent (125853)

8

6

2

0

0

 

0

0

0

 

155

719

1,420

 

19.4

1

1

Breast cancer (114480)

9

7

3

0

0

 

2

0

0

 

170

819

1,592

 

11.3

1

1

Retinitis pigmentosa (268000)

10

8

6

0

0

 

3

7

6

 

197

977

1,897

 

13.1

0

0

Cardiomyopathy, familial hypertrophic (192600)

11

11

9

7

4

 

7

7

15

 

194

1,011

2,029

 

9.92

46

38.83

Thyroid carcinoma, papillary (188550)

11

11

0

0

0

 

1

0

0

 

217

1,059

2,142

 

0

1

1

  1. * The total number of genes for a disease. †The number of disease genes that share IDs. ‡The number of disease genes above the threshold at the three locus sizes. §The number of non-disease genes above the threshold at the three locus sizes. ¶The total number of genes present at the loci considered. ¥The enrichment of disease genes in genes above the threshold compared with the initial loci, zeros denote diseases where only non-disease genes were above the theshold.
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Genome Biology

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