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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0 2
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: 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: 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
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: 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: 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: C4303163
Disease: Autoimmune hepatitis type 2
Autoimmune hepatitis type 2
disease Disease or Syndrome 16 0.010 None 1.000 1 1994 1994
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1992 1997
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
group Neoplasms Neoplastic Process 471 18 0.010 None 1.000 1 1997 1997
CUI: C0333980
Disease: Focal Nodular Hyperplasia
Focal Nodular Hyperplasia
disease Digestive System Diseases Disease or Syndrome 21 0.010 None 1.000 1 1997 1997
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 1999 1999
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 150 14 0.010 None 1.000 1 3 2001 2001
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 146 17 0.010 None 1.000 1 3 2001 2001
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 3 2001 2001
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.020 None 1.000 2 2 1997 2002
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
disease Digestive System Diseases Disease or Syndrome 156 62 0.030 None 0.667 3 3 2001 2003
CUI: C0021400
Disease: Influenza
Influenza
disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.010 None 1.000 1 2004 2004
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 4 2005 2005
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2006 2006
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 6 0.010 None 1.000 1 2006 2006
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2007 2007