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: C0037280
Disease: Skin Diseases, Parasitic
Skin Diseases, Parasitic 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0477324
Disease: Other combined immunodeficiencies
Other combined immunodeficiencies 		disease Disease or Syndrome 1 0.200 None 1.000 1 2007 2007
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
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: C2703042
Disease: malignant neoplasm of bone marrow
malignant neoplasm of bone marrow 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 2 0.010 None 1.000 1 2009 2009
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		disease Infections; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 5 0.100 None 0 3
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		disease Finding 2 7 0.400 strong 0 5
CUI: C4021113
Disease: Abnormal T cell count
Abnormal T cell count 		phenotype Finding 2 0.100 None 0
CUI: C4021208
Disease: Abnormal B cell count
Abnormal B cell count 		phenotype Finding 2 0.100 None 0
CUI: C0267541
Disease: Typhlocolitis
Typhlocolitis 		disease Digestive System Diseases; Infections Disease or Syndrome 3 0.010 None 1.000 1 2012 2012
CUI: C0451693
Disease: Severe combined immunodeficiency with low T- and B-cell numbers
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: C2931884
Disease: Reticuloendotheliosis, familial, with eosinophilia
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: C0264272
Disease: Purulent rhinitis
Purulent rhinitis 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 3 0.100 None 0
CUI: C4021036
Disease: Abnormal natural killer cell count
Abnormal natural killer cell count 		phenotype Finding 3 0.100 None 0
CUI: C4531148
Disease: Reduced antigen-specific T cell proliferation
Reduced antigen-specific T cell proliferation 		phenotype Finding 3 0.100 None 0
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
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
CUI: C0267537
Disease: Typhlitis
Typhlitis 		disease Digestive System Diseases; Infections Disease or Syndrome 4 0.010 None 1.000 1 2012 2012
CUI: C2721713
Disease: Disseminated BCG
Disseminated BCG 		disease Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C0024904
Disease: Mastoiditis
Mastoiditis 		disease Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 5 0.100 None 0
CUI: C4025681
Disease: Recurrent enteroviral infections
Recurrent enteroviral infections 		phenotype Finding 5 0.100 None 0
CUI: C1368107
Disease: Aplastic bone marrow
Aplastic bone marrow 		disease Hemic and Lymphatic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2013 2013
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		phenotype Finding 6 1 0.100 None 0
CUI: C0162679
Disease: Leukemic Infiltration
Leukemic Infiltration 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2011 2011
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
Failure to thrive secondary to recurrent infections 		phenotype Finding 7 0.100 None 0
CUI: C0017155
Disease: Gastritis, Hypertrophic
Gastritis, Hypertrophic 		disease Digestive System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2002 2002
CUI: C0742597
Disease: colon (non-specific) lesion
colon (non-specific) lesion 		disease Disease or Syndrome 9 0.010 None 1.000 1 2013 2013