RAG2, recombination activating 2, 5897
N. diseases: 207; N. variants: 44
Source: ALL
| Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | CausalMutation | disease | CLINVAR | Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency. | 26692406 | 2016 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens. | 26186701 | 2015 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Crystal structure of the V(D)J recombinase RAG1-RAG2. | 25707801 | 2015 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Crystal structure of the V(D)J recombinase RAG1-RAG2. | 25707801 | 2015 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. | 24290284 | 2014 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. | 19458910 | 2009 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. | 18701881 | 2009 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | An immunodeficiency disease with RAG mutations and granulomas. | 18463379 | 2008 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | An immunodeficiency disease with RAG mutations and granulomas. | 18463379 | 2008 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency. | 18442948 | 2008 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination. | 18033247 | 2007 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. | 17572155 | 2007 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | RAG-dependent primary immunodeficiencies. | 16960852 | 2006 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | A direct interaction between the RAG2 C terminus and the core histones is required for efficient V(D)J recombination. | 16111638 | 2005 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. | 15025726 | 2004 | ||||
|
0.700 | CausalMutation | disease | 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 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | ||||
|
0.700 | GeneticVariation | disease | 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 | ||||
|
0.700 | Biomarker | disease | CTD_human |