RAG2, recombination activating 2, 5897
N. diseases: 207; N. variants: 44
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | 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 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Analysis of mutations and recombination activity in RAG-deficient patients. | 21131235 | 2011 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Analysis of mutations and recombination activity in RAG-deficient patients. | 21131235 | 2011 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. | 26457731 | 2015 | ||||||
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0.800 | GeneticVariation | UNIPROT | Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. | 10606976 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. | 10606976 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. | 10606976 | 2000 | |||||||
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A | 0.700 | GeneticVariation | CLINVAR | Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. | 23243423 | 2012 | ||||||
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0.800 | GeneticVariation | UNIPROT | Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. | 21771083 | 2011 | |||||||
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0.700 | GeneticVariation | UNIPROT | Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. | 21771083 | 2011 | |||||||
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0.700 | GeneticVariation | UNIPROT | Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. | 21771083 | 2011 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | Crystal structure of the V(D)J recombinase RAG1-RAG2. | 25707801 | 2015 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. | 15025726 | 2004 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. | 15025726 | 2004 | ||||||
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0.040 | GeneticVariation | BEFREE | Here we show the effect of anti-CD3ε mAb administration in the RAG2(R229Q) mouse model, which closely recapitulates human OS. | 22723555 | 2012 | |||||||
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0.040 | GeneticVariation | BEFREE | Hypomorphic Rag2(R229Q) knock-in mice, which recapitulate OS, revealed, beyond severe B cell developmental arrest, a normal or even enlarged compartment of immunoglobulin-secreting cells (ISC). | 20547828 | 2010 | |||||||
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A | 0.700 | GeneticVariation | 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 |