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GENE - TERM ANNOTATION REPORT

RGD ID: 18913436
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Casp8
Name: caspase 8
Acc ID: DOID:0110116
Term: autoimmune lymphoproliferative syndrome type 2B
Definition: An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12353035 "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)
Casp8 ISOCASP8 (Homo sapiens)7240710OMIM  
Casp8 ISOCASP8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiencyPMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 PMID:15998955 PMID:16199547 PMID:17293864 PMID:17576681 PMID:19380800 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25640679 PMID:25741868 PMID:25814141 PMID:26193622 PMID:26556299 PMID:28492532 PMID:29729943 PMID:30267714 PMID:30326257 PMID:32135276 PMID:34362880 PMID:9536098
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