×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
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
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
GeneticVariation
disease
CLINVAR
Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.
19458910
2009
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
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
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
0.700
GeneticVariation
disease
CLINVAR
Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.
19458910
2009
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
0.700
GeneticVariation
disease
UNIPROT
An immunodeficiency disease with RAG mutations and granulomas.
18463379
2008
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
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
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
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
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
0.700
GeneticVariation
disease
CLINVAR
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
26186701
2015
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
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
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
0.700
GeneticVariation
disease
CLINVAR
Crystal structure of the V(D)J recombinase RAG1-RAG2.
25707801
2015
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
GeneticVariation
disease
UNIPROT
An immunodeficiency disease with RAG mutations and granulomas.
18463379
2008
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
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
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
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
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
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
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
17075247
2006
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
0.700
CausalMutation
disease
CLINVAR
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
24290284
2014
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
0.700
CausalMutation
disease
CLINVAR
RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.
18033247
2007
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.
18822103
2009
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
0.700
CausalMutation
disease
CLINVAR
RAG-dependent primary immunodeficiencies.
16960852
2006
×
Entrez Id:
5897
Gene Symbol:
RAG2
RAG2
0.700
CausalMutation
disease
CLINVAR
Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency.
26692406
2016
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
20489056
2010
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Prenatal diagnosis of RAG-deficient Omenn syndrome.
10701853
2000