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GENE - TERM ANNOTATION REPORT

RGD ID: 1562112
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Foxp3
Name: forkhead box P3
Acc ID: DOID:0090110
Term: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Definition: An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome "DO" "DO", https://www.omim.org/entry/304790 "DO" "DO"
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)
Foxp3 ISOFOXP3 (Homo sapiens)1598959RGDDNA:mutations:multiple (human) 
Foxp3 ISOFOXP3 (Homo sapiens)7240710OMIM  
Foxp3 ISOFOXP3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:27783946
Foxp3 ISOFOXP3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndromePMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 PMID:11295725 PMID:11768393 PMID:12161590 PMID:14671208 PMID:15096376 PMID:16199547 PMID:16630773 PMID:16741580 PMID:16920951 PMID:17576681 PMID:17586580 PMID:17635943 PMID:18414213 PMID:18795917 PMID:18820676 PMID:18931102 PMID:18951619 PMID:19189134 PMID:19471859 PMID:19633572 PMID:20537998 PMID:20650610 PMID:21036387 PMID:22000569 PMID:22581967 PMID:22590469 PMID:23313429 PMID:23534934 PMID:24033266 PMID:24250806 PMID:24258212 PMID:24792626 PMID:24916357 PMID:24982679 PMID:25326164 PMID:25363768 PMID:25546394 PMID:25741868 PMID:25911531 PMID:26467025 PMID:26661331 PMID:26748374 PMID:26748735 PMID:27167055 PMID:28289675 PMID:28492532 PMID:28778586 PMID:28783662 PMID:28993341 PMID:29193502 PMID:29241729 PMID:29312905 PMID:29896738 PMID:29907148 PMID:30191644 PMID:30293990 PMID:30385752 PMID:30443250 PMID:30510991 PMID:30805323 PMID:30894704 PMID:31027649 PMID:31130284 PMID:31990476 PMID:32279225 PMID:32531870 PMID:33046911 PMID:33194927 PMID:33523441 PMID:33637067 PMID:3375136 PMID:33751536 PMID:33833438 PMID:34216291 PMID:9536098
Foxp3 ISSFoxp3 (Mus musculus)13592920MouseDOOMIM:304790 
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