RAG1, recombination activating 1, 5896
N. diseases: 209; N. variants: 59
Source: ALL
| Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | CausalMutation | disease | CLINVAR | Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. | 25516070 | 2015 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. | 24290284 | 2014 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Analysis of mutations and recombination activity in RAG-deficient patients. | 21131235 | 2011 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Hypomorphic Rag mutations can cause destructive midline granulomatous disease. | 20489056 | 2010 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. | 18822103 | 2009 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. | 19458910 | 2009 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. | 18701881 | 2009 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome. | 19064334 | 2009 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report. | 19830075 | 2009 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | An immunodeficiency disease with RAG mutations and granulomas. | 18463379 | 2008 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency. | 18442948 | 2008 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | An immunodeficiency disease with RAG mutations and granulomas. | 18463379 | 2008 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome. | 18056378 | 2007 | ||||
|
0.700 | GeneticVariation | 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 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. | 17075247 | 2006 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. | 11133745 | 2001 | ||||
|
0.700 | CausalMutation | disease | 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 | CausalMutation | disease | CLINVAR | Prenatal diagnosis of RAG-deficient Omenn syndrome. | 10701853 | 2000 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Partial V(D)J recombination activity leads to Omenn syndrome. | 9630231 | 1998 | ||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND |