Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0343287
Disease: Thoracic discitis
Thoracic discitis 		disease Infections; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0423463
Disease: Opticociliary vessels
Opticociliary vessels 		disease Cardiovascular Diseases Congenital Abnormality 1 0.010 None 1.000 1 1995 1995
CUI: C0570855
Disease: Allergy to chlorpromazine
Allergy to chlorpromazine 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C3241919
Disease: Erythema Multiforme Major
Erythema Multiforme Major 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C4016207
Disease: HIV-1 VIREMIA, SUSCEPTIBILITY TO
HIV-1 VIREMIA, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0409667
Disease: Juvenile Chronic Polyarthritis
Juvenile Chronic Polyarthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1980 1980
CUI: C3697982
Disease: Pulmonary arterial hypertension associated with connective tissue disease
Pulmonary arterial hypertension associated with connective tissue disease 		disease Disease or Syndrome 2 0.300 None 0
CUI: C0155118
Disease: Corneal degeneration
Corneal degeneration 		disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C0268108
Disease: Chronic gouty arthritis
Chronic gouty arthritis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0392548
Disease: Cauda Equina Syndrome
Cauda Equina Syndrome 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0748473
Disease: Arthritis, Sacroiliac
Arthritis, Sacroiliac 		disease Musculoskeletal Diseases Disease or Syndrome 3 1 0.100 None 0
CUI: C0339403
Disease: Presumed ocular histoplasmosis syndrome
Presumed ocular histoplasmosis syndrome 		disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2003 2003
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip 		disease Musculoskeletal Diseases Acquired Abnormality 4 5 0.010 None 1.000 1 2019 2019
CUI: C0877521
Disease: Chronic synovitis
Chronic synovitis 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2003 2003
CUI: C1274216
Disease: Punctate palmoplantar keratoderma
Punctate palmoplantar keratoderma 		disease Congenital Abnormality 4 1 0.010 None 1.000 1 1988 1988
CUI: C1456792
Disease: Still's disease with juvenile onset and/or adult onset
Still's disease with juvenile onset and/or adult onset 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 4 0.010 None 1.000 1 1980 1980
CUI: C4025826
Disease: Abnormality of the urethra
Abnormality of the urethra 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0175708
Disease: Chronic rheumatic heart disease
Chronic rheumatic heart disease 		disease Infections; Cardiovascular Diseases Disease or Syndrome 5 1 0.020 None 1.000 2 1987 1993
CUI: C0239161
Disease: Dactylitis
Dactylitis 		disease Disease or Syndrome 5 0.020 None 1.000 2 2013 2019
CUI: C0032026
Disease: Pityriasis Rosea
Pityriasis Rosea 		disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.010 None 1.000 1 2006 2006
CUI: C0741395
Disease: back pain mechanical
back pain mechanical 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2009 2009
CUI: C1336820
Disease: Treatment-Induced Anemia
Treatment-Induced Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2012 2012
CUI: C3889038
Disease: Non-radiographic axial spondyloarthritis
Non-radiographic axial spondyloarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2020 2020
CUI: C0027339
Disease: Nail Diseases
Nail Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 6 1 0.020 None 1.000 2 2015 2017
CUI: C0201910
Disease: Beta-2-microglobulin measurement
Beta-2-microglobulin measurement 		phenotype Laboratory Procedure 6 7 0.100 None 1.000 1 2 2013 2013