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: 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: 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: 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: 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: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype Finding 67 6 0.100 None 0 1
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1992 1997
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.010 None 1.000 1 1997 1997
CUI: C4551463
Disease: Colon adenoma
Colon adenoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 63 1 0.010 None 1.000 1 2001 2001
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: 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: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 379 56 0.010 None 1.000 1 2004 2004
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.010 None 1.000 1 2004 2004
CUI: C0857493
Disease: Upper gastrointestinal symptoms
Upper gastrointestinal symptoms 		disease Disease or Syndrome 6 0.010 None 1.000 1 2005 2005
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: 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
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2005 2005
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.010 None 1.000 1 1 2005 2005
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2007 2007
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: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 111 0.010 None 1.000 1 2008 2008