Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.030 GeneticVariation disease BEFREE Port-wine stains (PWS) are capillary malformations associated with mutation in the GNAQ (NM_000441.1) gene. 31692010 2020
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.030 GeneticVariation disease BEFREE The GNAQ c.548G>A mutation was identified in the PG and in the respective underlying PWS, indicating that PGs originate from cells of the PWS. 26802240 2016
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.030 GeneticVariation disease BEFREE A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. 25188413 2014