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: C4016905
Disease: HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC 		phenotype Finding 2 0.300 limited 1.000 1 2012 2012
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 2 0.730 limited 1.000 4 2 2007 2015
CUI: C0546343
Disease: Mucosal erosion
Mucosal erosion 		phenotype Acquired Abnormality 4 0.010 None 1.000 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: C0948807
Disease: Hepatic impairment
Hepatic impairment 		phenotype Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
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: C4025362
Disease: Abnormality of the gastric mucosa
Abnormality of the gastric mucosa 		disease Anatomical Abnormality 12 0.100 None 0
CUI: C0860218
Disease: ABO incompatibility
ABO incompatibility 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2016 2016
CUI: C0333291
Disease: Bleeding ulcer
Bleeding ulcer 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 1 0.020 None 1.000 2 2014 2015
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		phenotype Laboratory Procedure 21 75 0.100 None 1.000 1 1 2012 2012
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: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.030 None 1.000 3 2005 2014
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		phenotype Laboratory Procedure 24 42 0.100 None 1.000 1 1 2018 2018
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: C0026821
Disease: Muscle Cramp
Muscle Cramp 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 26 8 0.010 None 1.000 1 2013 2013
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: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 31 10 0.010 None 1.000 1 2009 2009
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: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 1 0.110 None 1.000 1 2015 2015
CUI: C0857007
Disease: Hyperbilirubinemia, Neonatal
Hyperbilirubinemia, Neonatal 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 33 15 0.060 None 1.000 6 3 2009 2019
CUI: C0022353
Disease: Neonatal Jaundice
Neonatal Jaundice 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 33 2 0.010 None 1.000 1 2016 2016
CUI: C0007930
Disease: Chagas Cardiomyopathy
Chagas Cardiomyopathy 		disease Infections; Cardiovascular Diseases Disease or Syndrome 37 8 0.100 None 1.000 1 1 2013 2013
CUI: C0700636
Disease: Focal nodular hyperplasia of liver
Focal nodular hyperplasia of liver 		disease Digestive System Diseases Disease or Syndrome 39 0.010 None 1.000 1 2005 2005
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34 0.010 None 1.000 1 1 2006 2006
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 14 0.010 None 1.000 1 2014 2014