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.
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
phenotype Finding 9 3 0.100 None 0 3
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: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin
phenotype Finding 17 1 0.100 None 0 1
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: 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: 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: 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: 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: 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: C0341439
Disease: Chronic liver disease
Chronic liver disease
group Digestive System Diseases Disease or Syndrome 196 14 0.010 None 1.000 1 2001 2001
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases
group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 159 7 0.010 None 1.000 1 2001 2001
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 855 24 0.010 None 1.000 1 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: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 61 86 0.010 None < 0.001 1 2003 2003
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: C0021400
Disease: Influenza
Influenza
disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.010 None 1.000 1 2004 2004
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.020 None 1.000 2 2003 2005
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.020 None 0.500 2 2003 2005
CUI: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases
group Digestive System Diseases Disease or Syndrome 100 11 0.020 None 0.500 2 2003 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2005 2005
CUI: C0039730
Disease: Thalassemia
Thalassemia
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 136 18 0.010 None 1.000 1 2005 2005