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: C0857493
Disease: Upper gastrointestinal symptoms
Upper gastrointestinal symptoms 		disease Disease or Syndrome 6 0.010 None 1.000 1 2005 2005
CUI: C2921125
Disease: Post traumatic seizures
Post traumatic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 7 0.010 None 1.000 1 2017 2017
CUI: C4755308
Disease: Familial cervical artery dissection
Familial cervical artery dissection 		disease Disease or Syndrome 9 2 0.010 None 1.000 1 2008 2008
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 4 0.100 None 0 4
CUI: C1866173
Disease: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		phenotype Finding 9 3 0.100 None 0 3
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 27 0.100 None 0 27
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 1 2016 2016
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 8 0.100 None 0 5
CUI: C4303163
Disease: Autoimmune hepatitis type 2
Autoimmune hepatitis type 2 		disease Disease or Syndrome 16 0.010 None 1.000 1 1994 1994
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 38 0.200 None 1.000 14 38 1994 2015
CUI: C0022610
Disease: Kernicterus
Kernicterus 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 17 0.010 None 1.000 1 2017 2017
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin 		phenotype Finding 17 1 0.100 None 0 1
CUI: C0001429
Disease: Adenolymphoma
Adenolymphoma 		disease Neoplasms Neoplastic Process 21 0.010 None 1.000 1 2016 2016
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.060 None 1.000 6 2 1997 2016
CUI: C1319853
Disease: Asthma, Aspirin-Induced
Asthma, Aspirin-Induced 		disease Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 25 6 0.010 None 1.000 1 2003 2003
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		phenotype Laboratory or Test Result 32 478 0.100 None 1.000 6 151 2009 2013
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 5 1999 2017
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 29 0.200 None 1.000 24 17 1996 2019
CUI: C0699889
Disease: Malignant Female Reproductive System Neoplasm
Malignant Female Reproductive System Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 47 5 0.010 None 1.000 1 2009 2009
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.100 None 1.000 1 1 2018 2018
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2017 2017
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 13 0.020 None 1.000 2 2003 2011
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 8 0.010 None 1.000 1 2004 2004
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		phenotype Laboratory Procedure 56 535 0.100 None 1.000 13 161 2009 2019
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 59 14 0.100 None 0 1