RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
Disease: Combined Cellular And Humoral Immune Defects With Granulomas ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474686
rs199474686
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome. 19064334 2009
dbSNP: rs199474686
rs199474686
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. 18822103 2009
dbSNP: rs199474686
rs199474686
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation 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
dbSNP: rs199474686
rs199474686
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
CUI: C2673536
Disease:
Combined Cellular And Humoral Immune Defects With Granulomas 		A 0.700 CausalMutation CLINVAR V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001