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: 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: 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: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0 1
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin
phenotype Finding 17 1 0.100 None 0 1
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
phenotype Finding 9 3 0.100 None 0 3
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1992 1997
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 15 38 1994 2015
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: C0011226
Disease: Hepatitis D Infection
Hepatitis D Infection
disease Digestive System Diseases; Infections Disease or Syndrome 72 4 0.010 None 1.000 1 1994 1994
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 23 16 1996 2019
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 131 27 0.100 None 0.947 19 5 1996 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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2 1997 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.030 None 1.000 3 1997 2009
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.020 None 1.000 2 1997 2008
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 4 1999 2017
Deficiency of glucose-6-phosphate dehydrogenase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 75 20 0.020 None 1.000 2 1999 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2000 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2000 2019
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
disease Digestive System Diseases Disease or Syndrome 252 90 0.180 None 0.889 9 5 2001 2013
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
disease Digestive System Diseases Disease or Syndrome 156 62 0.040 None 0.750 4 3 2001 2011
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.020 None 1.000 2 2001 2009
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