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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 17 31 2008 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 10 23 2012 2019
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 5 24 2008 2012
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity 		phenotype Disease or Syndrome 75 2 0.050 None 1.000 5 2008 2019
CUI: C3845502
Disease: Myocardial infarction, stroke
Myocardial infarction, stroke 		disease Disease or Syndrome 46 3 0.040 None 1.000 4 2017 2019
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		disease Congenital Abnormality 10 21 0.040 None 1.000 4 6 2006 2014
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease Disease or Syndrome 10 3 0.030 None 1.000 3 1 2005 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2004 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2013 2019
CUI: C3160761
Disease: Diabetic dyslipidaemia
Diabetic dyslipidaemia 		disease Disease or Syndrome 28 11 0.020 None 1.000 2 2011 2018
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.020 None 1.000 2 2017 2019
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis 		disease Disease or Syndrome 124 5 0.120 None 1.000 2 2017 2018
CUI: C4310756
Disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV
HYPERALDOSTERONISM, FAMILIAL, TYPE IV 		disease Disease or Syndrome 3 3 0.020 None 1.000 2 2017 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.020 None 1.000 2 2007 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0741923
Disease: cardiac event
cardiac event 		phenotype Disease or Syndrome 82 18 0.010 None 1.000 1 2017 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None 1.000 1 2020 2020
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C0948807
Disease: Hepatic impairment
Hepatic impairment 		phenotype Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		disease Disease or Syndrome 111 9 0.010 None 1.000 1 2017 2017
CUI: C1516061
Disease: Astler-Coller B1 Rectal Carcinoma
Astler-Coller B1 Rectal Carcinoma 		disease Neoplastic Process 22 1 0.010 None 1.000 1 2018 2018
CUI: C1561921
Disease: Non-ST elevation (NSTEMI) myocardial infarction
Non-ST elevation (NSTEMI) myocardial infarction 		disease Disease or Syndrome 17 0.010 None 1.000 1 2020 2020
CUI: C1960636
Disease: Dysglycemia
Dysglycemia 		disease Disease or Syndrome 31 2 0.010 None < 0.001 1 2016 2016
CUI: C2919414
Disease: Low density lipoprotein receptor mutation
Low density lipoprotein receptor mutation 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 2017 2017
CUI: C3549252
Disease: response to statin
response to statin 		phenotype Organism Function 6 8 0.100 None 1.000 1 1 2012 2012