ADA, adenosine deaminase, 100

N. diseases: 300; N. variants: 13
Source: BEFREE ×
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: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 120 5 0.010 None 1.000 1 2009 2009
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 22 4 0.100 None 1.000 15 2003 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 291 122 0.010 None 1.000 1 1 2014 2014
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 268 20 0.500 strong 0.991 108 6 1974 2019
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
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 23 3 0.800 limited 0.977 44 3 1980 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2650 714 0.100 None 0.833 24 1994 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1229 306 0.100 None 1.000 19 1991 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2314 611 0.100 None 0.833 18 1994 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2694 1598 0.100 None 0.938 16 1 1992 2019
CUI: C2959467
Disease: Tuberculous pleural effusion
Tuberculous pleural effusion 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 36 0.100 None 1.000 16 2017 2019
CUI: C0041326
Disease: Pleural Tuberculosis
Pleural Tuberculosis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 57 0.100 None 1.000 15 2000 2019
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 176 12 0.100 None 1.000 12 1975 2018
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 857 24 0.100 None 1.000 11 1 1979 2006
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 194 16 0.100 None 1.000 10 2017 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1069 411 0.090 None 1.000 9 2009 2019
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1497 388 0.080 None 0.875 8 1994 2014
CUI: C0041318
Disease: Tuberculosis, Meningeal
Tuberculosis, Meningeal 		disease Infections; Nervous System Diseases Disease or Syndrome 67 9 0.080 None 1.000 8 1991 2019
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 20 4 0.060 None 1.000 6 1977 1989
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1551 382 0.060 None 1.000 6 2007 2019
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		group Respiratory Tract Diseases Disease or Syndrome 168 3 0.060 None 1.000 6 2007 2020
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 103 40 0.060 None 1.000 6 1991 1997
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2395 676 0.050 None 1.000 5 2003 2018
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 98 18 0.050 None 1.000 5 1996 2014
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		group Immune System Diseases Disease or Syndrome 399 10 0.050 None 1.000 5 1978 2003