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: C0266335
Disease: Congenital anomaly of the bladder
Congenital anomaly of the bladder 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 3 0.010 None 1.000 1 2019 2019
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 47 0.010 None 1.000 1 2000 2000
CUI: C0343757
Disease: Neuropathy due to human immunodeficiency virus
Neuropathy due to human immunodeficiency virus 		disease Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2006 2006
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Congenital Abnormality 18 17 0.010 None 1.000 1 2009 2009
CUI: C1608426
Disease: Compensated cirrhosis
Compensated cirrhosis 		disease Disease or Syndrome 23 2 0.010 None 1.000 1 2015 2015
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 24 0.010 None < 0.001 1 2001 2001
CUI: C3495919
Disease: Enthesitis-Related Arthritis
Enthesitis-Related Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2018 2018
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 51 54 0.010 None 1.000 1 1988 1988
CUI: C0543697
Disease: Mixed cryoglobulinemia
Mixed cryoglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 56 5 0.010 None 1.000 1 2015 2015
CUI: C0018889
Disease: Helminthiasis
Helminthiasis 		disease Infections Disease or Syndrome 59 1 0.010 None 1.000 1 2019 2019
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 70 8 0.010 None 1.000 1 2019 2019
CUI: C4050407
Disease: Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 15 0.010 None 1.000 1 2001 2001
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 0.030 None 1.000 3 1995 2005
CUI: C2717865
Disease: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis 		disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 86 3 0.010 None 1.000 1 2002 2002
CUI: C0040558
Disease: Toxoplasmosis
Toxoplasmosis 		disease Infections Disease or Syndrome 112 0.010 None 1.000 1 2018 2018
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 126 18 0.010 None 1.000 1 2001 2001
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.010 None 1.000 1 1980 1980
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.010 None 1.000 1 2017 2017
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.010 None 1.000 1 2018 2018
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 211 49 0.010 None 1.000 1 2019 2019
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 230 26 0.010 None 1.000 1 2019 2019
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		group Infections Disease or Syndrome 237 12 0.010 None 1.000 1 2017 2017
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.010 None 1.000 1 2015 2015
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		group Stomatognathic Diseases Disease or Syndrome 326 22 0.010 None 1.000 1 2007 2007
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.060 None 1.000 6 1990 2018