ADA, adenosine deaminase, 100

N. diseases: 379; N. variants: 61
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.
Severe combined immunodeficiency due to adenosine deaminase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 24 15 0.800 limited 0.977 44 15 1980 2019
SCID Due to ADA Deficiency, Early-Onset
disease Disease or Syndrome 2 50 0.600 None 1.000 54 50 1984 2019
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 17 2 0.600 None 1.000 27 2 1976 2018
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 35 48 0.510 strong 1.000 1 2011 2011
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.500 strong 0.991 111 9 1974 2019
Partial adenosine deaminase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 6 0.420 None 1.000 2 6 1986 1990
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.340 None 1.000 4 1 2000 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.330 None 1.000 4 1990 2019
CUI: C0020452
Disease: Hyperemia
Hyperemia
disease Cardiovascular Diseases Disease or Syndrome 64 3 0.310 None 1.000 3 1 1989 2008
CUI: C0178824
Disease: Reactive Hyperemia
Reactive Hyperemia
phenotype Cardiovascular Diseases Pathologic Function 13 0.300 None 1.000 2 1989 1994
CUI: C0042484
Disease: Venous Engorgement
Venous Engorgement
phenotype Cardiovascular Diseases Pathologic Function 13 0.300 None 1.000 2 1989 1994
CUI: C0333233
Disease: Active Hyperemia
Active Hyperemia
phenotype Cardiovascular Diseases Pathologic Function 13 0.300 None 1.000 2 1989 1994
Structural Clinical Interview for DSM-III
phenotype Diagnostic Procedure 5 0.300 strong 1.000 1 2016 2016
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.300 None 1.000 1 1990 1990
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases
group Nervous System Diseases Disease or Syndrome 84 3 0.300 None 1.000 1 2006 2006
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 970 22 0.300 None 0 1
Multiple gastrointestinal atresias (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 5 23 0.300 moderate 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.230 None 1.000 4 1998 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.210 None 1.000 2 2009 2012
CUI: C0034063
Disease: Pulmonary Edema
Pulmonary Edema
phenotype Respiratory Tract Diseases Pathologic Function 26 0.200 None 1.000 1 2010 2010
CUI: C0043102
Disease: Weil Disease
Weil Disease
disease Infections Disease or Syndrome 3 0.200 None 1.000 1 2012 2012
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.200 None 1.000 1 2002 2002
CUI: C0041227
Disease: Trypanosomiasis
Trypanosomiasis
disease Infections Disease or Syndrome 23 0.200 None 1.000 1 2011 2011
CUI: C0023364
Disease: Leptospirosis
Leptospirosis
disease Infections Disease or Syndrome 70 2 0.200 None 1.000 1 2012 2012