Table 2 Genetic validation of selected phenotypes, and the number of cases and controls included in the UK Biobank analysis and in the reference studies.

From: A computational framework for defining and validating reproducible phenotyping algorithms of 313 diseases in the UK Biobank

Phenotype

Published study

rg

SE

P value

UK biobank

Published study

# Cases

# Control

# Cases

# Controls

Diabetes, type 2

Scott et al.45

0.97

0.03

5.15E−231

37,189

421,251

26,676

132,532

Psoriasis

Tsoi et al.46

0.83

0.05

5.14E−63

14,844

443,596

10,588

22,806

Ulcerative colitis

de Lange et al.47

0.94

0.07

2.04E−40

6094

452,346

12,366

33,609

Rheumatoid arthritis

Okada et al.48

0.76

0.07

1.32E−30

11,961

446,479

14,361

43,923

Peripheral arterial disease

Klarin et al.49

1.03

0.09

1.66E−30

8984

449,456

24,009

150,983

Crohn’s disease

de Lange et al.47

0.95

0.08

1.84E−30

2992

455,448

12,194

28,072

Osteoarthritis

arcOGEN (2012)

0.65

0.06

2.13E−25

119,948

338,492

14,883

53,947

Schizophrenia

Lam et al.50

0.96

0.11

1.88E−17

2165

456,275

33,640

43,456

Bipolar affective disorder

Stahl et al.51

0.84

0.17

9.99E−07

3692

454,748

3421

22,155

Primary malignancy, ovarian

Phelan et al.52

0.77

0.73

2.93E−01

2375

246,224

29,396

68,502

  1. rg, genetic correlation; SE, standard error.