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: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 10 0.010 None 1.000 1 2014 2014
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 8 0.010 None 1.000 1 2014 2014
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2014 2014
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.030 None 1.000 3 2019 2019
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		disease Eye Diseases Disease or Syndrome 90 30 0.010 None 1.000 1 2015 2015
CUI: C1332259
Disease: Adenocarcinoma of anal canal
Adenocarcinoma of anal canal 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.020 None 1.000 2 2017 2018
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm 		group Neoplastic Process 163 3 0.010 None 1.000 1 2019 2019
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 73 48 0.010 None 1.000 1 1998 1998
CUI: C1332262
Disease: Anal canal squamous cell carcinoma
Anal canal squamous cell carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2 1 0.010 None 1.000 1 2017 2017
CUI: C0345903
Disease: Anal skin tag
Anal skin tag 		phenotype Skin and Connective Tissue Diseases Anatomical Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.020 None 1.000 2 2007 2017
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.160 None 1.000 6 2017 2020
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 109 8 0.010 None 1.000 1 2018 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.010 None 1.000 1 2018 2018
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.040 None 1.000 4 2017 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.040 None 1.000 4 2017 2019
CUI: C0003615
Disease: Appendicitis
Appendicitis 		disease Digestive System Diseases; Infections Disease or Syndrome 83 10 0.010 None 1.000 1 2001 2001
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.010 None 1.000 1 2019 2019
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.030 None 1.000 3 1995 2017
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.030 None 1.000 3 2015 2019
CUI: C0022408
Disease: Arthropathy
Arthropathy 		group Musculoskeletal Diseases Disease or Syndrome 187 10 0.010 None 1.000 1 2018 2018
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.020 None 1.000 2 2015 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2006 2006
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.080 None 0.875 8 2005 2019