RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
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: 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 strong 1.000 18 16 1998 2015
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 0.700 strong 1.000 1 5 2005 2005
CUI: C1855771
Disease: Immune Deficiency Disease
Immune Deficiency Disease 		disease Immune System Diseases Disease or Syndrome 2 0.200 None 1.000 1 2018 2018
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: 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: 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 0.300 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 0.700 strong 1.000 19 19 1996 2015
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 10 0.010 None 1.000 1 2011 2011
CUI: C0398795
Disease: Secondary immune deficiency disorder
Secondary immune deficiency disorder 		group Infections; Immune System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C1849236
Disease: Severe combined immunodeficiency, atypical
Severe combined immunodeficiency, atypical 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 5 6 0.030 None 1.000 3 1 2008 2015
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: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		phenotype Finding 6 1 0.100 None 0
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: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 9 0.100 None 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		phenotype Infections Finding 10 0.100 None 0
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		phenotype Finding 10 2 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		phenotype Finding 13 0.100 None 0
CUI: C1855067
Disease: B lymphocytopenia
B lymphocytopenia 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 13 0.100 None 0
CUI: C4531166
Disease: Decreased lymphocyte proliferation in response to mitogen
Decreased lymphocyte proliferation in response to mitogen 		phenotype Cell or Molecular Dysfunction 13 0.100 None 0
CUI: C0473133
Disease: Protracted diarrhea
Protracted diarrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.100 None 0