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: C4310747
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 		disease Disease or Syndrome 1 2 0.700 strong 1.000 1 2 2016 2016
CUI: C2363725
Disease: Arthrosclerosis
Arthrosclerosis 		phenotype Sign or Symptom 4 0.010 None 1.000 1 2018 2018
CUI: C0015697
Disease: Arterial Fatty Streak
Arterial Fatty Streak 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 5 0.300 None 1.000 1 2019 2019
CUI: C0264956
Disease: Atheroma
Atheroma 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 5 0.300 None 1.000 1 2019 2019
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		disease Disease or Syndrome 5 78 0.010 None 1.000 1 2019 2019
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 5 4 0.010 None 1.000 1 2019 2019
CUI: C2936350
Disease: Plaque, Atherosclerotic
Plaque, Atherosclerotic 		phenotype Pathological Conditions, Signs and Symptoms Body Substance 5 0.300 None 1.000 1 2019 2019
CUI: C0015378
Disease: Extravasation of Contrast Media
Extravasation of Contrast Media 		phenotype Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function 6 0.300 None 1.000 1 2012 2012
CUI: C0860197
Disease: Advanced chronic liver disease
Advanced chronic liver disease 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 1 2019 2019
CUI: C2945767
Disease: Childhood Malignant Liver Neoplasm
Childhood Malignant Liver Neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C2936351
Disease: Fibroatheroma
Fibroatheroma 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 8 0.300 None 1.000 1 2019 2019
CUI: C0264766
Disease: Rheumatic mitral stenosis
Rheumatic mitral stenosis 		disease Cardiovascular Diseases Disease or Syndrome 12 0.010 None 1.000 1 1991 1991
CUI: C0280725
Disease: Adult Cholangiocarcinoma
Adult Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 13 0.200 None 1.000 1 2014 2014
CUI: C0267792
Disease: Hepatobiliary disease
Hepatobiliary disease 		disease Digestive System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2019 2019
CUI: C0012242
Disease: Digestive System Disorders
Digestive System Disorders 		group Digestive System Diseases Disease or Syndrome 19 13 0.010 None 1.000 1 2019 2019
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2016 2016
CUI: C4728019
Disease: Acute on chronic hepatitis B
Acute on chronic hepatitis B 		disease Disease or Syndrome 21 0.010 None 1.000 1 2015 2015
CUI: C1701938
Disease: Associated Pulmonary Arterial Hypertension
Associated Pulmonary Arterial Hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2019 2019
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		phenotype Hemic and Lymphatic Diseases Finding 30 0.100 None 0
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 31 10 0.140 None 1.000 5 2 2004 2018
CUI: C1257958
Disease: Glucose Metabolism Disorders
Glucose Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 32 0.010 None 1.000 1 2019 2019
CUI: C0559031
Disease: Functional Gastrointestinal Disorders
Functional Gastrointestinal Disorders 		disease Digestive System Diseases Disease or Syndrome 33 0.010 None 1.000 1 2011 2011
CUI: C0001306
Disease: Acute alcoholic liver disease
Acute alcoholic liver disease 		disease Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 35 0.200 None 1.000 1 2017 2017
CUI: C0085635
Disease: Photopsia
Photopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 0.010 None 1.000 1 2019 2019
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		disease Digestive System Diseases Disease or Syndrome 38 19 0.030 None 1.000 3 2012 2018