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GENE - TERM ANNOTATION REPORT

RGD ID: 735221
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cyp20a1
Name: cytochrome P450, family 20, subfamily a, polypeptide 1
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)
Cyp20a1 ISOCYP20A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2BPMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257
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