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| Gene: Rag1 (recombination activating 1) Rattus norvegicus |  Analyze |
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| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:11313270 PMID:16276422 | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:11121059 more ... | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by OMIM:609889 | ClinVar | PMID:16276422 | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by OMIM:609889 | ClinVar | PMID:11133745 PMID:16276422 | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:25741868 PMID:28492532 | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:17075247 more ... | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11133745 more ... | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:10701853 more ... | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:18442948 PMID:28492532 | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:11313270 more ... | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:24290284 more ... | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar | PMID:28492532 | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by OMIM:233650 | ClinVar | PMID:20489056 | Combined Cellular and Humoral Immune Defects with Granulomas | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by OMIM:233650 | ClinVar | PMID:18463379 | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:17075247 more ... | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:10701853 more ... | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11121059 more ... | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:24033266 PMID:25741868 | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11121059 | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:10606976 more ... | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11133745 PMID:18056378 | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:15908971 | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:25741868 PMID:28492532 | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11313270 more ... | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:25741868 | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11313270 PMID:16276422 | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:9630231 | hemophagocytic lymphohistiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:28492532 | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:17075247 more ... | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:10701853 more ... | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11121059 more ... | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11313270 PMID:16276422 | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:10606976 more ... | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11133745 PMID:18056378 | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11121059 | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:24033266 PMID:25741868 | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:11313270 more ... | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:25741868 | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:15908971 | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:9630231 | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:28492532 | malignant histiocytosis | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:25741868 PMID:28492532 | Omenn syndrome | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Omenn syndrome | ClinVar | PMID:25741868 PMID:28492532 | Omenn syndrome | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Omenn syndrome | ClinVar | PMID:28492532 | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immunodeficiency | ClinVar | PMID:21664875 PMID:24290284 | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar | PMID:24033266 PMID:25741868 | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar | PMID:28492532 | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immunodeficiency | ClinVar | | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immunodeficiency | ClinVar | PMID:25741868 | severe combined immunodeficiency | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar | PMID:25741868 PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive | ClinVar | PMID:25741868 PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive | ClinVar | PMID:21664875 PMID:24290284 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive | ClinVar | PMID:23122631 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive | ClinVar | PMID:20956421 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive | ClinVar | PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive | ClinVar | PMID:11313270 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative | ClinVar | PMID:11313270 PMID:16276422 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive | ClinVar | PMID:11133745 PMID:28492532 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative | ClinVar | PMID:18701881 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive | ClinVar | PMID:11313270 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1317876 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative | ClinVar | PMID:8810255 | |
Imported Annotations - CTD
Imported Annotations - OMIM
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype Annotations
