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Table 3 Phenotypically enriched locus overlapping with phenotypically similar known genomic syndromes

From: Systematic identification of phenotypically enriched loci using a patient network of genomic disorders

PEL ID

Type*

Chr

Start

Length (Kb)

Phenotype

Cases/Carrier (DGV)

P valuea

P b

MIMc

PEL 240

d

1

243981716

12.547

Abnormality of the skull

13/18 (0)

4.50E-08

100

217990

PEL 193

d

1

243786018

126.15

Abnormality of the skull

14/19 (0)

1.30E-08

100

217990

PEL 68

d

1

243981716

12.547

Microcephaly

12/18 (0)

7.40E-11

100

217990

PEL 49

d

1

243786018

126.15

Microcephaly

13/19 (0)

9.20E-12

100

217990

PEL 25

d

1

243981716

12.547

Aplasia/Hypoplasia of the cerebrum

15/18 (0)

1.80E-12

100

217990

PEL 15

d

1

243786018

126.15

Aplasia/Hypoplasia of the cerebrum

16/19 (0)

3.80E-13

100

217990

PEL 70

d

11

31802605

23.093

Aplasia/Hypoplasia affecting the eye

5/8 (0)

1.00E-08

100

106210

PEL 317

d

14

55242483

200.932

Abnormality of the eye

6/6 (0)

1.80E-04

100

248000

PEL 295

d

4

82082415

31.542

Growth abnormality

9/11 (0)

4.20E-06

100

601665

PEL 484

d

6

407031

170.484

Abnormality of the ocular region

10/16 (1)

4.10E-06

30.2

145400

PEL 484

d

6

407031

170.484

Abnormality of the ocular region

10/16 (1)

4.10E-06

30.2

187350

PEL 347

d

6

1612710

15.026

Abnormality of the ocular region

11/17 (0)

1.60E-07

100

145400

PEL 347

d

6

1612710

15.026

Abnormality of the ocular region

11/17 (0)

1.60E-07

100

187350

PEL 156

d

6

407031

170.484

Abnormality of globe location

9/16 (1)

7.90E-08

28

145400

PEL 100

d

6

2371534

63.584

Hypertelorism

8/13 (1)

2.80E-08

25.7

145400

PEL 88

d

6

1612710

357.639

Hypertelorism

9/16 (1)

3.00E-09

28

145400

PEL 58

d

6

1612710

22.698

Hypertelorism

10/17 (0)

3.40E-11

100

145400

PEL 22

d

8

11610366

83.076

Malformation of the heart and great vessels

15/21 (0)

1.00E-13

100

265500

PEL 6

d

8

11610366

83.076

Abnormality of the cardiovascular system

18/21 (0)

8.00E-15

100

265500

PEL 7

d

8

11610366

83.076

Abnormality of cardiac morphology

17/21 (0)

6.40E-15

100

265500

PEL 452

d

X

102585912

9.472

Abnormality of digit

6/8 (0)

3.50E-05

100

108110

  1. * Duplication (D) and deletion (d). a Adjusted P-values from the Fisher’s Exact test of the case–control analysis. b P is the penetrance, this table show only those PELs with a penetrance higher than 25 %. The penetrance was calculated as described by Cooper et al. [8, 28]. c OMIM genomic disorders from ClinVar showing phenotypes that were similar to those found in the respective PEL
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BMC Genomics

ISSN: 1471-2164

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