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: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype Finding 67 6 0.100 None 0 1
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
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: 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: 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: 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: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin 		phenotype Finding 17 1 0.100 None 0 1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None < 0.001 1 2009 2009
CUI: C0426576
Disease: Gastrointestinal symptom
Gastrointestinal symptom 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 69 7 0.010 None < 0.001 1 2005 2005
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.030 None 0.333 3 3 2005 2012
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.020 None 0.500 2 1998 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 0.667 3 2006 2012
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		disease Digestive System Diseases Disease or Syndrome 156 62 0.040 None 0.750 4 3 2001 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.050 None 0.800 5 2 2004 2016
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.180 None 0.889 9 5 2001 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.090 None 0.889 9 4 2004 2018
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 131 27 0.100 None 0.950 20 6 1996 2016
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: 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: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		phenotype Laboratory Procedure 56 535 0.100 None 1.000 13 161 2009 2019
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: 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: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.060 None 1.000 6 2 2004 2017
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.060 None 1.000 6 2 2004 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.060 None 1.000 6 2006 2016