RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
Disease: Primary immune deficiency disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group BEFREE Severe combined immunodeficiency (SCID) is a potentially fatal primary immunodeficiency (PID) that is caused by mutations in genes such as IL2RG, JAK3, IL7RA, RAG1, RAG2, and ADA. 28552805 2017
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 26457731 2015
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. 22841008 2012
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. 23243423 2012
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR Omenn syndrome due to mutation of the RAG2 gene. 19470080 2009
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR An immunodeficiency disease with RAG mutations and granulomas. 18463379 2008
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR RAG-dependent primary immunodeficiencies. 16960852 2006
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. 15025726 2004
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. 12200379 2002
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. 11313270 2001
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 GeneticVariation group CLINVAR Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. 10891502 2000
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.110 CausalMutation group CLINVAR