rs150739647, RAG1;RAG2

N. diseases: 2
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
0.700 GeneticVariation UNIPROT Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. 21771083 2011
Omenn Syndrome
CUI: C2700553
Disease: Omenn Syndrome
0.700 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
0.700 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
0.700 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
0.700 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
0.700 GeneticVariation UNIPROT Partial V(D)J recombination activity leads to Omenn syndrome. 9630231 1998