rs104894289, RAG1

N. diseases: 1
Disease: Omenn Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 CausalMutation CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875 2011
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 GeneticVariation UNIPROT Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. 21771083 2011
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 GeneticVariation UNIPROT Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 21624848 2011
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 CausalMutation CLINVAR Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 20956421 2010
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 GeneticVariation UNIPROT Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. 19912631 2009
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 CausalMutation CLINVAR Necrotizing enterocolitis in an infant with Omenn syndrome. 17176792 2007
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 CausalMutation CLINVAR Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. 17075247 2006
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 CausalMutation CLINVAR Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase. 11971977 2002
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 CausalMutation CLINVAR Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies. 11908269 2002
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 GeneticVariation UNIPROT V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 11133745 2001
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 GeneticVariation UNIPROT Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. 10606976 2000
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 GeneticVariation UNIPROT Partial V(D)J recombination activity leads to Omenn syndrome. 9630231 1998
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.800 CausalMutation CLINVAR Partial V(D)J recombination activity leads to Omenn syndrome. 9630231 1998