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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0.800 | GeneticVariation | UNIPROT | Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. | 21624848 | 2011 | |||||||
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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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0.800 | GeneticVariation | UNIPROT | Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. | 19912631 | 2009 | |||||||
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0.800 | GeneticVariation | UNIPROT | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | |||||||
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C | 0.800 | GeneticVariation | CLINVAR | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | ||||||
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C | 0.800 | GeneticVariation | CLINVAR | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | ||||||
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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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0.800 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
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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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G | 0.700 | GeneticVariation | CLINVAR | Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. | 26457731 | 2015 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens. | 26186701 | 2015 | ||||||
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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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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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A | 0.700 | GeneticVariation | CLINVAR | Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. | 23243423 | 2012 | ||||||
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0.700 | GeneticVariation | UNIPROT | Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. | 21771083 | 2011 | |||||||
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0.700 | GeneticVariation | UNIPROT | Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. | 21624848 | 2011 | |||||||
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A | 0.700 | GeneticVariation | CLINVAR | Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. | 21624848 | 2011 | ||||||
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0.700 | GeneticVariation | UNIPROT | Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. | 21624848 | 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 | 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 |