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GENE - TERM ANNOTATION REPORT

RGD ID: 14187349
Species: Sus scrofa
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
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 ISORGD:7308467240710OMIM  
CASP8 ISSRGD:7308469068941OMIM  
CASP8 ISSRGD:7308469068941ClinVarClinVar Annotator: match by term: Caspase-8 deficiency

PMID:12353035
CASP8 ISSRGD:7308469068941ClinVarClinVar Annotator: match by term: Caspase-8 deficiency

PMID:15601643, PMID:15998955, PMID:17293864, PMID:24033266
CASP8 ISSRGD:7308469068941ClinVarClinVar Annotator: match by term: Caspase-8 deficiency

PMID:25741868
CASP8 ISSRGD:7308469068941ClinVarClinVar Annotator: match by term: Caspase-8 deficiency

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.