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Table 4 Significantly Overrepresented Transamidase+Remodeling-Group Phenotypes

From: Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

HPO ID

Term Name

Synthesis Group (patients with phenotype/total)

Synthesis Group (%)

Transamidase+Remodeling Group (patients with phenotype/total)

Transamidase+Remodeling Group (%)

Corrected p-value

HP:0002360

Sleep disturbance

0/93

0.00

13/59

22.03

0.00047

HP:0012759

Neurodevelopmental abnormality

68/93

73.12

58/59

98.31

0.01235

HP:0000708

Behavioral abnormality

14/93

15.05

25/59

42.37

0.03610

HP:0012758

Neurodevelopmental delay

57/93

61.29

54/59

91.53

0.00898

HP:0001249

Intellectual disability

15/93

16.13

39/59

66.10

0.00000

HP:0003330

Abnormal bone structure

3/93

3.23

15/59

25.42

0.00773

HP:0011849

Abnormal bone ossification

2/93

2.15

15/59

25.42

0.00193

HP:0004348

Abnormality of bone mineral density

2/93

2.15

15/59

25.42

0.00193

HP:0004349

Reduced bone mineral density

2/93

2.15

15/59

25.42

0.00193

HP:0000938

Osteopenia

2/93

2.15

13/59

22.03

0.01305

HP:0000400

Macrotia

2/93

2.15

15/59

25.42

0.00193

HP:0002265

Large fleshy ears

1/93

1.08

14/59

23.73

0.00106

HP:0000366

Abnormality of the nose

26/93

27.96

36/59

61.02

0.01119

HP:0100737

Abnormal hard palate morphology

6/93

6.45

17/59

28.81

0.03743

HP:0000202

Oral cleft

6/93

6.45

18/59

30.51

0.01556

HP:0000175

Cleft palate

6/93

6.45

17/59

28.81

0.03743