Table 1 Summary of ten inferred disease topics in the UK Biobank

From: Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk

Acronyms

Disease systems

Representative diseases

Number of associated diseases

NRI

Neoplasms, respiratory, infectious diseases

Secondary malignancy of lymph nodes; pneumococcal pneumonia; bacterial infection NOS

53

CER

Circulatory system, endocrine/metabolic, respiratory

Type 2 diabetes; obesity; chronic airway obstruction

41

SRD

Sense organs, respiratory, dermatologic

Cataract; septal deviations/turbinate hypertrophy; benign neoplasm of skin

38

CVD

Cardiovascular disease

Hypercholesterolemia; coronary atherosclerosis; myocardial infarction

27

UGI

Upper gastrointestinal disease

Diaphragmatic hernia; benign neoplasm of other parts of digestive system; gastritis and duodenitis

22

LGI

Lower gastrointestinal disease

Irritable bowel syndrome; benign neoplasm of colon; anal and rectal polyp

13

FGND

Female genitourinary, neoplasms, digestive

Uterine leiomyoma; malignant neoplasm of female breast; hypothyroidism NOS

34

MGND

Male genitourinary, neoplasms, digestive

Urinary tract infection; cancer of prostate; other disorders of bladder

33

MDS

Musculoskeletal, digestive, symptoms

Back pain; cholelithiasis; other disorders of soft tissues

29

ARP

Arthropathy-related disease

Arthropathy NOS; rheumatoid arthritis; enthesopathy

26

  1. For each topic, we list its three-letter acronym, disease systems, representative diseases and number of associated diseases (defined as diseases with average diagnosis-specific topic probability >50% for that topic). Topics are ordered by the Phecode system (Fig. 3). In total, 316 of 348 diseases analyzed are associated with a topic; the remaining 32 diseases do not have a topic with average diagnosis-specific topic probability >50%.
  2. NOS, not otherwise specified.
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