Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
0.800 GeneticVariation disease UNIPROT Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. 21771083 2011
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
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
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
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
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
0.800 GeneticVariation disease UNIPROT 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
0.800 GeneticVariation disease UNIPROT Omenn syndrome was recently found to be caused by missense mutations in RAG1 or RAG2 gene that result in partial V(D)J recombination activity. 10606976 2000
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
0.800 GeneticVariation disease UNIPROT We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins. 9630231 1998