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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:0060586
Term: Noonan syndrome 8
Definition: A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24939608 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25124994 "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)
Pik3ca ISOPIK3CA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Noonan syndrome 8PMID:25741868 PMID:26619011 PMID:27631024
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