Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 CausalMutation disease CLINVAR A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. 18768869 2008
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 CausalMutation disease CLINVAR The genetic and biochemical basis of Omenn syndrome. 11213808 2000
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 CausalMutation disease CLINVAR Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 20956421 2010
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 CausalMutation disease CLINVAR An immunodeficiency disease with RAG mutations and granulomas. 18463379 2008
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 CausalMutation disease 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
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 CausalMutation disease CLINVAR Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. 27484032 2016
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 CausalMutation disease CLINVAR GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 17572155 2007
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 CausalMutation disease CLINVAR Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt. 25869295 2015
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		0.500 CausalMutation disease CLINVAR An immunodeficiency disease with RAG mutations and granulomas. 18463379 2008
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		0.500 CausalMutation disease CLINVAR GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 17572155 2007
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		0.500 CausalMutation disease CLINVAR Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 20956421 2010
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		0.500 CausalMutation disease CLINVAR The genetic and biochemical basis of Omenn syndrome. 11213808 2000
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		0.500 CausalMutation disease CLINVAR Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. 27484032 2016
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		0.500 CausalMutation disease CLINVAR A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. 18768869 2008
Entrez Id: 3575
Gene Symbol: IL7R
IL7R 		0.500 CausalMutation disease CLINVAR
Entrez Id: 100
Gene Symbol: ADA
ADA 		0.500 CausalMutation disease CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240 2015
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		0.500 CausalMutation disease CLINVAR Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt. 25869295 2015
Entrez Id: 100
Gene Symbol: ADA
ADA 		0.500 CausalMutation disease CLINVAR Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 19179314 2009
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		0.500 CausalMutation disease 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
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG 		0.500 CausalMutation disease CLINVAR
Entrez Id: 100
Gene Symbol: ADA
ADA 		0.500 CausalMutation disease CLINVAR Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. 22447032 2012
Entrez Id: 100
Gene Symbol: ADA
ADA 		0.500 CausalMutation disease CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612 1998
Entrez Id: 919
Gene Symbol: CD247
CD247 		0.400 CausalMutation disease CLINVAR
Entrez Id: 11142
Gene Symbol: PKIG
PKIG 		0.100 CausalMutation disease CLINVAR Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 19179314 2009
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		0.700 AlteredExpression disease BEFREE Pathogenic variants that severely impair recombinase activity of RAG1/2 determine a severe combined immunodeficiency (SCID) phenotype, whereas hypomorphic variants result in leaky (partial) SCID and other immunodeficiencies. 31058115 2019