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: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		phenotype Laboratory Procedure 56 535 0.100 None 1.000 3 13 2009 2017
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.030 None 1.000 3 2014 2017
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 2 1 2018 2018
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		phenotype Laboratory or Test Result 32 478 0.100 None 1.000 2 12 2009 2011
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 2 2010 2017
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0202218
Disease: Sex hormone binding globulin measurement
Sex hormone binding globulin measurement 		phenotype Laboratory Procedure 11 21 0.100 None 1.000 1 1 2012 2012
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		phenotype Laboratory Procedure 24 42 0.100 None 1.000 1 1 2018 2018
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C0236379
Disease: ESTRONE MEASUREMENT
ESTRONE MEASUREMENT 		phenotype Laboratory Procedure 5 7 0.100 None 1.000 1 1 2017 2017
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: C0337434
Disease: Estradiol measurement
Estradiol measurement 		phenotype Laboratory Procedure 21 75 0.100 None 1.000 1 1 2012 2012
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		phenotype Finding 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2013 2013
CUI: C0546343
Disease: Mucosal erosion
Mucosal erosion 		phenotype Acquired Abnormality 4 0.010 None 1.000 1 2019 2019
CUI: C0948807
Disease: Hepatic impairment
Hepatic impairment 		phenotype Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		phenotype Laboratory or Test Result 21 75 0.100 None 1.000 1 1 2012 2012
CUI: C4016905
Disease: HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC 		phenotype Finding 2 0.300 limited 1.000 1 2012 2012
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2 2013 2013
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		disease Neoplastic Process 24 11 0.010 None 1.000 1 1 2015 2015
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		disease Neoplastic Process 28 17 0.010 None 1.000 1 1 2015 2015
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.100 None 0