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GENE - TERM ANNOTATION REPORT

CRRD ID: 619790
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Rag1
Name: recombination activating 1
Acc ID: DOID:0090013
Term: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Definition: A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1940786
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13178767240710OMIM  
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative

PMID:11313270, PMID:16276422
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative

PMID:17572155, PMID:18701881, PMID:19458910, PMID:28492532
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative

PMID:8810255
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

 
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

PMID:11133745, PMID:28492532
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

PMID:11313270, PMID:18442948, PMID:24290284, PMID:28492532
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

PMID:11313270, PMID:28492532, PMID:9630231
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

PMID:20956421, PMID:21771083, PMID:28492532
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

PMID:21664875, PMID:24290284, PMID:26476733, PMID:26596586, PMID:28492532, PMID:30290665
 ISORGD:13178768554872ClinVarClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

PMID:23122631, PMID:24290284, PMID:24418478, PMID:25516070, PMID:26457731, PMID:27301863, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.