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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:9001616
Term: Port-Wine Stain
Definition: A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483)
Definition Source(s): MESH:D019339
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)11554173CTDCTD Direct Evidence: marker/mechanismPMID:23656586
Gnaq ISOGNAQ (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PORT-WINE STAINPMID:23656586 PMID:25188413 PMID:25741868
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