RAG2, recombination activating 2, 5897
N. diseases: 207; N. variants: 44
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. | 10606976 | 2000 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. | 10606976 | 2000 | |||||||
|
|
|
T | 0.700 | GeneticVariation | 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 | ||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. | 10606976 | 2000 | |||||||
|
|
|
T | 0.700 | GeneticVariation | 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 | ||||||
|
|
|
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 | |||||||
|
|
|
C | 0.800 | GeneticVariation | CLINVAR | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | ||||||
|
|
|
C | 0.800 | GeneticVariation | CLINVAR | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. | 11313270 | 2001 | ||||||
|
|
|
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 | |||||||
|
|
|
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 | |||||||
|
|
|
T | 0.700 | GeneticVariation | 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 |