Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.120 GeneticVariation group BEFREE Severe combined immunodeficiency (SCID) is a potentially fatal primary immunodeficiency (PID) that is caused by mutations in genes such as IL2RG, JAK3, IL7RA, RAG1, RAG2, and ADA. 28552805 2017
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.120 GeneticVariation group CLINVAR Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 26457731 2015
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.120 GeneticVariation group CLINVAR A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. 22841008 2012
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.120 GeneticVariation group CLINVAR Analysis of mutations and recombination activity in RAG-deficient patients. 21131235 2011
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.120 GeneticVariation group CLINVAR Omenn syndrome due to mutation of the RAG2 gene. 19470080 2009
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.120 GeneticVariation group BEFREE Hypomorphic mutations in the gene encoding RAG1 are associated with Omenn syndrome, a primary immunodeficiency. 18056378 2007
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.120 GeneticVariation group CLINVAR RAG-dependent primary immunodeficiencies. 16960852 2006
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.120 GeneticVariation group CLINVAR The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. 12200379 2002
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.120 GeneticVariation group 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