RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
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: 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 1.000 strong 1.000 31 20 1998 2019
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 32 0.900 strong 1.000 19 11 1992 2016
Combined Cellular And Humoral Immune Defects With Granulomas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 19 0.700 None 1.000 16 9 2000 2016
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 0.976 41 8 1994 2019
Reticuloendotheliosis, familial, with eosinophilia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.500 None 1.000 1 2007 2007
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.410 None 1.000 2 1 2007 2017
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
disease Finding 2 7 0.400 strong 0 5
CUI: C0993582
Disease: Arthritis, Experimental
Arthritis, Experimental
disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 1 2010 2010
CUI: C0971858
Disease: Arthritis, Collagen-Induced
Arthritis, Collagen-Induced
disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 1 2010 2010
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 434 17 0.300 None 1.000 1 2014 2014
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.300 None 1.000 1 2014 2014
CUI: C0003865
Disease: Arthritis, Adjuvant-Induced
Arthritis, Adjuvant-Induced
disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 1 2010 2010
CUI: C0014458
Disease: Eosinophilia, Tropical
Eosinophilia, Tropical
disease Hemic and Lymphatic Diseases Disease or Syndrome 24 0.300 None 1.000 1 2017 2017
CUI: C0025568
Disease: Metaplasia
Metaplasia
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 52 0.300 None 1.000 1 2017 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.200 None 1.000 37 1 1998 2019
Severe combined immunodeficiency with low T- and B-cell numbers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 3 0.200 None 1.000 1 1992 1992
CUI: C0477324
Disease: Other combined immunodeficiencies
Other combined immunodeficiencies
disease Disease or Syndrome 1 0.200 None 1.000 1 2007 2007
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.140 None 1.000 4 2001 2015
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.120 None 1.000 2 2000 2019
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
group Immune System Diseases Disease or Syndrome 93 23 0.110 None 1.000 14 18 2000 2017
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.110 None 1.000 1 2005 2005
CUI: C0002880
Disease: Autoimmune hemolytic anemia
Autoimmune hemolytic anemia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 81 0.110 None 1.000 1 2015 2015
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 2014 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 13 1991 2019
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.100 None 1.000 13 2002 2019