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GENE - TERM ANNOTATION REPORT

RGD ID: 620916
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pik3ca
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
Acc ID: DOID:10480
Term: diaphragmatic eventration
Definition: A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG.
Definition Source(s): MESH:D003965
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)
Pik3ca ISOPIK3CA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Diaphragmatic eventrationPMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861
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