×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
25516070
2015
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
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:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Analysis of mutations and recombination activity in RAG-deficient patients.
21131235
2011
×
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
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.
18822103
2009
×
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:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome.
19064334
2009
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.
19830075
2009
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
GermlineCausalMutation
disease
ORPHANET
An immunodeficiency disease with RAG mutations and granulomas.
18463379
2008
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
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
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
GeneticVariation
disease
UNIPROT
An immunodeficiency disease with RAG mutations and granulomas.
18463379
2008
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome.
18056378
2007
×
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:
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:
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
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
Prenatal diagnosis of RAG-deficient Omenn syndrome.
10701853
2000
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
CausalMutation
disease
CLINVAR
Partial V(D)J recombination activity leads to Omenn syndrome.
9630231
1998
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
5896
Gene Symbol:
RAG1
RAG1
0.700
Biomarker
disease
GENOMICS_ENGLAND