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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.030 None 1.000 3 2016 2017
CUI: C2584777
Disease: Autoimmune thrombotic thrombocytopenic purpura
Autoimmune thrombotic thrombocytopenic purpura 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.030 None 1.000 3 2004 2018
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 26 54 0.100 None 1.000 1 1 2018 2018
CUI: C0004610
Disease: Bacteremia
Bacteremia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 233 7 0.020 None 1.000 2 2014 2020
CUI: C0014121
Disease: Bacterial Endocarditis
Bacterial Endocarditis 		disease Infections; Cardiovascular Diseases Disease or Syndrome 68 9 0.010 None 1.000 1 2013 2013
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2012 2012
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.070 None 1.000 7 2018 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 4 2018 2018
CUI: C0151539
Disease: Blood urea increased
Blood urea increased 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 12 0.100 None 0
CUI: C3854434
Disease: Bone marrow infiltration
Bone marrow infiltration 		disease Hemic and Lymphatic Diseases Disease or Syndrome 36 3 0.010 None 1.000 1 2019 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.010 None 1.000 1 2003 2003
CUI: C0265026
Disease: Capillary thrombosis
Capillary thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C4728230
Disease: Capnocytophaga canimorsus sepsis
Capnocytophaga canimorsus sepsis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2017 2017
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.010 None 1.000 1 2018 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2016 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.090 None 1.000 9 2009 2018
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 110 0.010 None 1.000 1 2017 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2012 2012
CUI: C0917996
Disease: Cerebral Aneurysm
Cerebral Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2016 2016
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.100 None 1.000 12 2 2006 2019
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 233 56 0.010 None 1.000 1 2017 2017
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.010 None 1.000 1 2017 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2012 2012
CUI: C0008311
Disease: Cholangitis
Cholangitis 		disease Digestive System Diseases Disease or Syndrome 80 1 0.010 None 1.000 1 2018 2018