Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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: 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: 5897
Gene Symbol: RAG2
RAG2 		0.700 CausalMutation disease CLINVAR RAG-dependent primary immunodeficiencies. 16960852 2006
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 CausalMutation disease CLINVAR Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency. 26692406 2016
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: 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
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: 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 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 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 Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome. 18056378 2007
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 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 Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency. 18442948 2008
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