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: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.010 None 1.000 1 2017 2017
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 234 19 0.010 None 1.000 1 2018 2018
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.010 None 1.000 1 2010 2010
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.060 None 1.000 6 2006 2018
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.030 None 1.000 3 2004 2019
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.020 None 1.000 2 2017 2019
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 94 32 0.020 None 1.000 2 2013 2020
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.060 None 1.000 6 1999 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.010 None 1.000 1 2008 2008
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.010 None 1.000 1 2013 2013
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.060 None 1.000 6 2006 2018
CUI: C4703473
Disease: Atherosclerotic lesion
Atherosclerotic lesion 		disease Cardiovascular Diseases Disease or Syndrome 253 0.010 None 1.000 1 2018 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.020 None 1.000 2 2008 2016
CUI: C0264122
Disease: Atrophy, Disuse
Atrophy, Disuse 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.020 None 1.000 2 2009 2019
CUI: C0549297
Disease: Auricular swelling
Auricular swelling 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 49 0.010 None 1.000 1 2012 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2019 2019
CUI: C3160909
Disease: Autoimmune arthritis
Autoimmune arthritis 		disease Disease or Syndrome 113 0.010 None 1.000 1 2010 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.090 None 1.000 9 1999 2019
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.020 None 1.000 2 2017 2018
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.020 None 1.000 2 2014 2018
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 478 60 0.010 None 1.000 1 2017 2017
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 2009 2009
CUI: C3160901
Disease: Behcet's uveitis
Behcet's uveitis 		disease Disease or Syndrome 14 2 0.010 None 1.000 1 2018 2018
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 2008 2008
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.010 None 1.000 1 2017 2017