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: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 21 27 2008 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 18 2010 2020
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 1.000 12 2004 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.070 None 1.000 7 2004 2017
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype Disease or Syndrome 45 24 0.060 None 1.000 6 1997 2010
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.050 None 1.000 5 2012 2016
CUI: C1167791
Disease: Skin toxicity
Skin toxicity
disease Disease or Syndrome 62 24 0.030 None 0.667 3 2 2006 2018
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.020 None 1.000 2 1 2013 2017
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.020 None 1.000 2 2017 2019
CUI: C0699753
Disease: Cancer Relapse
Cancer Relapse
disease Neoplastic Process 48 0.020 None 1.000 2 2015 2017
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.020 None 1.000 2 2014 2016
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.020 None 1.000 2 2016 2017
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2018 2018
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
CUI: C0267008
Disease: Erythroplakia of mouth
Erythroplakia of mouth
disease Disease or Syndrome 5 0.010 None 1.000 1 2020 2020
Non-small cell lung cancer stage IIIA
disease Neoplastic Process 12 0.010 None 1.000 1 2017 2017
CUI: C0280220
Disease: stage, ovarian epithelial cancer
stage, ovarian epithelial cancer
disease Neoplastic Process 65 0.010 None 1.000 1 2012 2012
CUI: C0744466
Disease: gout tophaceous
gout tophaceous
disease Disease or Syndrome 2 3 0.010 None 1.000 1 2 2014 2014
CUI: C0747820
Disease: Malaria, antepartum
Malaria, antepartum
disease Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C0851358
Disease: Metabolism and nutrition disorders
Metabolism and nutrition disorders
group Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2017 2017
CUI: C1112160
Disease: Gastrooesophageal cancer
Gastrooesophageal cancer
disease Neoplastic Process 26 0.010 None 1.000 1 2015 2015
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2010 2010
androgen independent prostate cancer
disease Neoplastic Process 190 5 0.010 None 1.000 1 1 2008 2008