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Pathways

GENE - TERM ANNOTATION REPORT

RGD ID: 1550022
Species: Mus musculus
RGD Object: Gene
Symbol: Gnaq
Name: guanine nucleotide binding protein, alpha q polypeptide
Acc ID: DOID:0111529
Term: familial multiple nevi flammei
Definition: A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. (DO)
Definition Source(s): PMID:16846771 "DO" "DO", PMID:6716409 "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)
Gnaq ISOGNAQ (Homo sapiens)7240710OMIM  
Gnaq ISOGNAQ (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Capillary malformations, congenital | ClinVar Annotator: match by term: Familial multiple nevi flammeiPMID:23656586 PMID:25188413 PMID:25741868 PMID:39434542
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