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GENE - TERM ANNOTATION REPORT

RGD ID: 12480861
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Gna11
Name: G protein subunit alpha 11
Acc ID: DOID:0080351
Term: CLOVES syndrome
Definition: A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25209813 "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)
Gna11 ISOGNA11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal neviPMID:25741868 PMID:27476652
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