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: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		phenotype Laboratory Procedure 96 212 0.100 None 1.000 7 5 2008 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 5 7 2012 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 5 7 2012 2018
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.020 None 1.000 2 2019 2020
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 2 24 2011 2012
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.020 None 1.000 2 2016 2018
CUI: C0008352
Disease: Cholemia
Cholemia 		disease Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		phenotype Laboratory Procedure 17 28 0.100 None 1.000 1 1 2018 2018
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2018 2018
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2011 2011
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		phenotype Laboratory Procedure 57 76 0.100 None 1.000 1 1 2018 2018
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 3 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2013 2013
CUI: C0742395
Disease: Cholestasis, chronic
Cholestasis, chronic 		disease Disease or Syndrome 5 0.010 None 1.000 1 2016 2016
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		phenotype Laboratory or Test Result 65 113 0.100 None 1.000 1 1 2012 2012
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		phenotype Laboratory Procedure 54 108 0.100 None 1.000 1 1 2018 2018
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2000 2000
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2018 2018
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		disease Neoplastic Process 240 2 0.010 None 1.000 1 2019 2019
CUI: C4049431
Disease: Chronic hepatitis C genotype 4
Chronic hepatitis C genotype 4 		disease Disease or Syndrome 10 3 0.010 None 1.000 1 1 2018 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2016 2016
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype Finding 67 6 0.100 None 0