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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 37 2004 2020
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.960 25 4 2002 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.100 None 1.000 11 1 2008 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.090 None 0.889 9 1 2007 2020
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 7 5 2012 2019
Obesity-Associated Insulin Resistance
disease Disease or Syndrome 36 0.050 None 1.000 5 2001 2019
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 4 4 2012 2018
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.040 None 1.000 4 2016 2018
Mixed follicular and papillary thyroid carcinoma
disease Neoplastic Process 31 8 0.030 None 1.000 3 1 2006 2012
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.030 None 1.000 3 2004 2016
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.030 None 1.000 3 2007 2019
CUI: C1395512
Disease: Placental dysfunction
Placental dysfunction
disease Disease or Syndrome 31 0.030 None 1.000 3 2000 2019
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.030 None 1.000 3 2 2008 2014
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.030 None 0.667 3 2005 2019
estrogen receptor-negative breast cancer
disease Neoplastic Process 356 40 0.030 None 1.000 3 1999 2010
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 2 1 2016 2019
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 2 4 2012 2018
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder
group Disease or Syndrome 26 1 0.020 None 1.000 2 2013 2016
CUI: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 273 8 0.020 None 1.000 2 2017 2018
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.020 None 1.000 2 2014 2014
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.020 None 1.000 2 2017 2017
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 2 2 2015 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2001 2016
androgen independent prostate cancer
disease Neoplastic Process 190 5 0.020 None 1.000 2 2009 2010
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.020 None 1.000 2 2005 2006