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.
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 18 12 2009 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 10 12 2009 2019
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 9 8 2009 2013
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 1 2009 2019
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 1 2009 2019
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 1 2009 2019
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 1 2009 2019
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 1 2009 2019
CUI: C0523744
Disease: Lipids measurement
Lipids measurement
group Laboratory Procedure 27 53 0.100 None 1.000 2 2 2009 2013
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
disease Finding 63 2 0.200 None 1.000 2 2013 2014
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
phenotype Finding 63 0.200 None 1.000 2 2013 2014
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
phenotype Finding 63 0.200 None 1.000 2 2013 2014
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: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia
disease Disease or Syndrome 10 3 0.010 None 1.000 1 2008 2008
Giant platelet (morphologic abnormality)
phenotype Finding 10 0.100 None 0
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result
phenotype Laboratory or Test Result 13 0.100 None 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta
phenotype Pathologic Function 21 0.100 None 0
CUI: C1855853
Disease: Impaired platelet aggregation
Impaired platelet aggregation
phenotype Finding 16 0.100 None 0
Abnormal internal carotid artery morphology
disease Finding 7 0.100 None 0
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure)
phenotype Laboratory Procedure 10 0.100 None 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
phenotype Finding 75 8 0.100 None 0
CUI: C4021796
Disease: Renal steatosis
Renal steatosis
disease Disease or Syndrome 12 0.100 None 0
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology
phenotype Pathologic Function 6 0.100 None 0
CUI: C4025000
Disease: Myocardial steatosis
Myocardial steatosis
phenotype Finding 6 0.100 None 0