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Table 5 Statistical numbers for clinical features identified from patients' clinical notes

From: EHR based Genetic Testing Knowledge Base (iGTKB) Development

Test id

Clinical Features

#Pat_A

#Pat_T

#Pat_N

#Pat_P

Freq_A

Freq_T

FreqN

FreqP

9497

Malabsorption

1036

3

1

2

0.00749

0.01364

0.00495

0.11111

9497

Emphysema

1058

2

1

1

0.00765

0.00909

0.00495

0.05556

9497

Chronic bronchitis

920

3

2

1

0.00666

0.01364

0.00990

0.05556

9497

Bronchiectasis

350

40

36

4

0.00253

0.18182

0.17822

0.22222

9497

Anemia

10832

23

21

2

0.07836

0.10455

0.10396

0.11111

9497

Diarrhea

26264

29

27

2

0.19000

0.13182

0.13366

0.11111

9497

Asthma

29676

50

47

3

0.21469

0.22727

0.23267

0.16667

9569

Tremor at rest

3093

8

6

2

0.02238

0.04762

0.03774

0.22222

9569

Joint hypermobility

48

4

3

1

0.00035

0.02381

0.01887

0.11111

9569

Moderate mental retardation

500

4

3

1

0.00362

0.02381

0.01887

0.11111

9569

Otitis media

11064

8

7

1

0.08004

0.04762

0.04403

0.11111

9569

Intellectual disability, moderate

28

11

10

1

0.00020

0.06548

0.06289

0.11111

9569

Depression

42371

35

33

2

0.30653

0.20833

0.20755

0.22222

9569

Seizure

14498

47

46

1

0.10488

0.27976

0.28931

0.11111

9569

Seizures

14498

47

46

1

0.10488

0.27976

0.28931

0.11111

9569

Anxiety

36674

47

46

1

0.26531

0.27976

0.28931

0.11111

81508

Telangiectasia

1340

7

1

6

0.00969

0.01639

0.00417

0.03209

81508

Autosomal dominant

216

6

2

4

0.00156

0.01405

0.00833

0.02139

81508

Autosomal dominant inheritance

216

6

2

4

0.00156

0.01405

0.00833

0.02139

81508

Skin hyperpigmentation

25

3

1

2

0.00018

0.00703

0.00417

0.01070

81508

Hepatic fibrosis

113

3

1

2

0.00082

0.00703

0.00417

0.01070

81508

Hypogonadotrophic hypogonadism

767

3

1

2

0.00555

0.00703

0.00417

0.01070

81508

Hypogonadism, hypogonadotropic

733

3

1

2

0.00530

0.00703

0.00417

0.01070

81508

Generalized hyperpigmentation

651

10

4

6

0.00471

0.02342

0.01667

0.03209

81508

Abnormal bleeding

2396

15

6

9

0.01733

0.03513

0.02500

0.04813

81508

Bleeding tendency

9682

11

5

6

0.07004

0.02576

0.02083

0.03209

81508

Heart failure

3009

20

10

10

0.02177

0.04684

0.04167

0.05348

81508

Enlarged liver

25

2

1

1

0.00018

0.00468

0.00417

0.00535

81508

Osteoporosis

23640

67

34

33

0.17102

0.15691

0.14167

0.17647

81508

Generalized osteoporosis

23640

67

34

33

0.17102

0.15691

0.14167

0.17647

81508

Arrhythmia

2362

15

8

7

0.01709

0.03513

0.03333

0.03743

81508

Erectile dysfunction

4418

21

12

9

0.03196

0.04918

0.05000

0.04813

81508

Abdominal pain

37984

96

57

39

0.27479

0.22482

0.23750

0.20856

81508

Alopecia

1243

5

3

2

0.00899

0.01171

0.01250

0.01070

81508

Arthralgia

17292

53

32

21

0.12510

0.12412

0.13333

0.11230

81508

Joint pain

16232

48

29

19

0.11743

0.11241

0.12083

0.10160

81508

Cardiomyopathy

1220

13

8

5

0.00883

0.03044

0.03333

0.02674

81508

Hepatic cirrhosis

62

13

8

5

0.00045

0.03044

0.03333

0.02674

81508

Cirrhosis

415

173

108

65

0.00300

0.40515

0.45000

0.34759

81508

Hepatomegaly

244

24

15

9

0.00177

0.05621

0.06250

0.04813

81508

Cardiomegaly

1751

11

7

4

0.01267

0.02576

0.02917

0.02139

81508

Diabetes mellitus

9692

64

41

23

0.07012

0.14988

0.17083

0.12299

81508

Congestive heart failure

2562

14

9

5

0.01853

0.03279

0.03750

0.02674

81508

Hepatocellular carcinoma

85

52

34

18

0.00061

0.12178

0.14167

0.09626

81508

Ascites

327

141

94

47

0.00237

0.33021

0.39167

0.25134

81508

Cholestasis

113

9

6

3

0.00082

0.02108

0.02500

0.01604

81508

Hepatic failure

21

9

6

3

0.00015

0.02108

0.02500

0.01604

81508

Hypoglycaemia

4500

32

23

9

0.03255

0.07494

0.09583

0.04813

81508

Hypoglycemia

4500

32

23

9

0.03255

0.07494

0.09583

0.04813

81508

Liver failure

244

41

30

11

0.00177

0.09602

0.12500

0.05882

81508

Splenomegaly

307

46

36

10

0.00222

0.10773

0.15000

0.05348

81508

Rapidly progressive

2167

7

6

1

0.01568

0.01639

0.02500

0.00535

81508

Rapid progression

2128

7

6

1

0.01539

0.01639

0.02500

0.00535

81508

Pleural effusion

510

10

9

1

0.00369

0.02342

0.03750

0.00535

82993

Emphysema

1058

16

12

4

0.00765

0.03113

0.02586

0.05714

82993

Hepatic failure

21

7

6

1

0.00015

0.01362

0.01293

0.01429

82993

Cirrhosis

415

160

142

18

0.00300

0.31128

0.30603

0.25714

82993

Chronic obstructive pulmonary disease

2048

18

16

2

0.01482

0.03502

0.03448

0.02857

82993

Hepatocellular carcinoma

85

53

48

5

0.00061

0.10311

0.10345

0.07143

82993

Hepatomegaly

235

24

22

2

0.00170

0.04669

0.04741

0.02857

  1. # Pat_A: number of patients in group A have the clinical feature accordingly; # Pat_T: number of patients in group T have the clinical feature accordingly; # Pat_P: number of patients in group P have the clinical feature accordingly; # Pat_N: number of patients in group N have the clinical feature accordingly; Freq_A: frequency of the clinical feature occurring in group A; Freq_T: frequency of the clinical feature occurring in group T; Freq_P: frequency of the clinical feature occurring in group p; Freq_N: frequency of the clinical feature occurring in group N.