RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 Biomarker disease BEFREE Therefore, the <i>RAG1-86nt</i> hamster reported herein (similar to the hypomorphic <i>RAG1</i> mutations in humans that cause Omenn syndrome), may provide a useful model for studying the pathogenesis of the specific RAG1-mutation-induced human immunodeficiency, the host immune response to adenovirus infection and other pathogens as well as for evaluation of cell and gene therapies for treatment of this subset of RAG1 mutation patients. 29734775 2018
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 Biomarker disease BEFREE Mutations in Recombination Activating Genes (RAG1 and RAG2) are common genetic causes of severe combined immunodeficiency (SCID) and Omenn syndrome (OS). 26476733 2016
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE This study demonstrates that the most popular genetic abnormality in East Slavs children with Omenn syndrome is c.368-369delAA (p.K86fs118) in RAG1 gene, which may be connected with more favorable prognosis because 4/4 patients survived after hematopoietic stem cells transplantation. 26596586 2016
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 Biomarker disease BEFREE Despite residual mutant RAG1 recombination activity from an Omenn syndrome (OS) patient, similar impaired T-cell differentiation was observed, due to increased single-strand DNA breaks that likely occur due to heterodimers consisting of both an N-terminal truncated and a catalytically dead RAG1. 27301863 2016
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE Our data show that mutation c.256_257delAA in RAG1 gene seems to occur quite frequently in the polish patients with severe combined immunodeficiency and may result in classical OS as well as in severe combined immunodeficiency without clinical and laboratory features of OS when occurred in homozygous state. 28083621 2016
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE In this report, we describe an infant with Omenn syndrome with a previously unreported termination mutation (p.R142*) in Rag1 on one allele and a partially characterized substitution mutation (p.V779M) in a "core" region of the other Rag1 allele. 25849362 2015
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE For example, a specific recombination-activating gene 1 variant protein with partial recombinant activity might produce Omenn syndrome or a common variable immunodeficiency phenotype. 25956014 2015
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease CLINVAR Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 26457731 2015
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE In addition identification of hypomorphic mutations in RAG1 and RAG2 has led to an expansion of the spectrum of disease to include Omenn syndrome, early onset autoimmunity, granuloma, chronic cytomegalovirus- or EBV-infection with expansion of gamma/delta T-cells, idiophatic CD4 lymphopenia and a phenotype resembling common variable immunodeficiency. 26186701 2015
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 Biomarker disease BEFREE These results underline that further development is required for improved expression to successfully treat patients with RAG1-induced SCID while maintaining low vector copy numbers and minimizing potential risks, including autoimmune reactions resembling Omenn syndrome. 24332219 2014
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE This is the first case of true somatic reversion of a RAG1 mutation in a patient with OS. 24817258 2014
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 Biomarker disease BEFREE This is the first report of a RAG1 deficient patient with a changed clinical and immunological phenotype from SCID to OS after HSCT. 22882342 2012
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease 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
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease UNIPROT Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. 21771083 2011
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 CausalMutation disease CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875 2011
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease UNIPROT Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 CausalMutation disease CLINVAR Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 20956421 2010
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease CLINVAR Omenn syndrome due to mutation of the RAG2 gene. 19470080 2009
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease UNIPROT Omenn syndrome (OS) shares the genetic aetiology of T-B-NK+ SCID, with mutations in RAG1, RAG2, or DCLRE1C. 19912631 2009
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE Omenn syndrome (OS) shares the genetic aetiology of T-B-NK+ SCID, with mutations in RAG1, RAG2, or DCLRE1C. 19912631 2009
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation. 19246248 2009
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE These presentations are consistent with atypical severe combined immunodeficiency (SCID)/Omenn Syndrome and the diagnosis was confirmed by demonstration of homozygosity for the R841W mutation in the catalytic core of RAG1. 18592361 2008
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 GeneticVariation disease BEFREE Omenn syndrome with mutation in RAG1 gene. 19011808 2008