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GENE - TERM ANNOTATION REPORT

RGD ID: 11697912
Species: Pan paniscus
RGD Object: Gene
Symbol: TAFAZZIN
Name: tafazzin, phospholipid-lysophospholipid transacylase
Acc ID: DOID:12929
Term: endocardial fibroelastosis
Definition: An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Endocardial_fibroelastosis "DO" "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract "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)
TAFAZZIN ISOTAFAZZIN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Endocardial fibroelastosisPMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 PMID:25741868 PMID:25941633 PMID:26350513 PMID:28492532
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