Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Omenn Syndrome
|
0.700 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||
Severe Combined Immunodeficiency
|
0.700 | CausalMutation | CLINVAR | The genetic and biochemical basis of Omenn syndrome. | 11213808 | 2000 | |||||
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
|
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 | |||||
Severe Combined Immunodeficiency
|
0.700 | 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 | |||||
Severe Combined Immunodeficiency
|
0.700 | CausalMutation | 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 | |||||
Severe Combined Immunodeficiency
|
0.700 | CausalMutation | CLINVAR | An immunodeficiency disease with RAG mutations and granulomas. | 18463379 | 2008 | |||||
Severe Combined Immunodeficiency
|
0.700 | CausalMutation | CLINVAR | A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. | 18768869 | 2008 | |||||
Omenn Syndrome
|
0.700 | GeneticVariation | UNIPROT | Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. | 19912631 | 2009 | |||||
Severe Combined Immunodeficiency
|
0.700 | CausalMutation | CLINVAR | Highly variable clinical phenotypes of hypomorphic RAG1 mutations. | 20956421 | 2010 | |||||
Omenn Syndrome
|
0.700 | GeneticVariation | UNIPROT | Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. | 21771083 | 2011 | |||||
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 | |||||
Severe Combined Immunodeficiency
|
0.700 | CausalMutation | CLINVAR | Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt. | 25869295 | 2015 | |||||
Severe Combined Immunodeficiency
|
0.700 | CausalMutation | CLINVAR | Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. | 27484032 | 2016 |