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: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 3 2016 2016
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
phenotype Laboratory Procedure 135 624 0.100 None 1.000 1 1 2016 2016
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
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype Laboratory Procedure 7 19 0.100 None 1.000 1 1 2019 2019
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0240602
Disease: opioid use
opioid use
disease Mental or Behavioral Dysfunction 39 5 0.010 None 1.000 1 2019 2019
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 38 0.010 None 1.000 1 2008 2008
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2013 2013
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
body fat percentage (physical finding)
phenotype Finding 56 98 0.100 None 1.000 1 1 2019 2019
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2018 2018
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
CUI: C0570855
Disease: Allergy to chlorpromazine
Allergy to chlorpromazine
disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0575157
Disease: Deformity of spine
Deformity of spine
disease Anatomical Abnormality 58 2 0.010 None 1.000 1 2017 2017
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2008 2008
CUI: C0683381
Disease: inflammatory joint disease
inflammatory joint disease
disease Disease or Syndrome 33 0.010 None 1.000 1 2019 2019
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma
disease Disease or Syndrome 48 67 0.100 None 1.000 1 1 2019 2019
CUI: C0741395
Disease: back pain mechanical
back pain mechanical
phenotype Sign or Symptom 5 0.010 None 1.000 1 2009 2009
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 139 296 0.100 None 1.000 1 1 2018 2018
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.010 None 1.000 1 1999 1999
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
phenotype Laboratory Procedure 100 150 0.100 None 1.000 1 1 2016 2016
CUI: C0948192
Disease: Primary infection NOS
Primary infection NOS
disease Disease or Syndrome 65 0.010 None 1.000 1 2013 2013
CUI: C1262091
Disease: Lymphocytic infiltration
Lymphocytic infiltration
disease Disease or Syndrome 84 2 0.010 None 1.000 1 2018 2018
CUI: C1274216
Disease: Punctate palmoplantar keratoderma
Punctate palmoplantar keratoderma
disease Congenital Abnormality 4 1 0.010 None 1.000 1 1988 1988