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GENE - TERM ANNOTATION REPORT

RGD ID: 61975
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ctla4
Name: cytotoxic T-lymphocyte-associated protein 4
Acc ID: DOID:9007445
Term: Autoimmune Lymphoproliferative Syndrome, Type V
Definition: An autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. (OMIM)
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Ctla4susceptibilityISOCTLA4 (Homo sapiens)7240710OMIM  
Ctla4 ISOCTLA4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ctla4 ISOCTLA4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATIONPMID:10189842 PMID:10475192 PMID:11098935 PMID:11158025 PMID:11343122 PMID:12353035 PMID:12577056 PMID:12724780 PMID:15138458 PMID:15199380 PMID:15301861 PMID:15688186 PMID:16199547 PMID:17576681 PMID:19380800 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25741868 PMID:25814141 PMID:26478010 PMID:26644313 PMID:26884280 PMID:27102614 PMID:27418640 PMID:27577878 PMID:27908448 PMID:28492532 PMID:28960754 PMID:28983403 PMID:29077208 PMID:29200144 PMID:29225858 PMID:29305966 PMID:29330115 PMID:29375547 PMID:29729943 PMID:29796761 PMID:30048690 PMID:30250467 PMID:30326257 PMID:30377434 PMID:30443250 PMID:30940614 PMID:31396201 PMID:31955317 PMID:31993940 PMID:32499327 PMID:32499645 PMID:32531373 PMID:32623363 PMID:33864888 PMID:34111452 PMID:34128135 PMID:34628649 PMID:34975878 PMID:35599849 PMID:35753512 PMID:35999394 PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098
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