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.
ISO RGD:1317876 7240710 OMIM ISO RGD:1317876 8554872 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative PMID:11313270 , PMID:16276422 ISO RGD:1317876 8554872 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative PMID:17572155 , PMID:18701881 , PMID:19458910 , PMID:28492532 ISO RGD:1317876 8554872 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative PMID:8810255 ISO RGD:1317876 8554872 ClinVar ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ISO RGD:1317876 8554872 ClinVar ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:11133745 , PMID:28492532 ISO RGD:1317876 8554872 ClinVar ClinVar 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 ISO RGD:1317876 8554872 ClinVar ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:11313270 , PMID:28492532 , PMID:9630231 ISO RGD:1317876 8554872 ClinVar ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:20956421 , PMID:21771083 , PMID:28492532 ISO RGD:1317876 8554872 ClinVar ClinVar 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 ISO RGD:1317876 8554872 ClinVar ClinVar 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 
