Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.660 GeneticVariation BEFREE Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report. 31692010

2020
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.660 GeneticVariation BEFREE Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation. 31532024

2019
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.660 GeneticVariation BEFREE Activating somatic GNAQ mutations (c.547C > T; p.Arg183Cys) were found in 100% (3 of 3) of the port wine stain and in the diffuse choroidal hemangioma. 30537484

2019
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.660 GeneticVariation BEFREE Here, we reported a case of Sturge-Weber Syndrome (SWS) manifesting cutaneous vascular malformations (hemifacial Port-wine stain), cerebral and ocular vascular abnormalities (including epilepsy and glaucoma) and harboring a c.548G>A (p.R183Q) somatic mosaic mutation in GNAQ. 28779688

2017
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.660 GeneticVariation BEFREE Previously, the recurrent somatic mutation c.548G>A (p.R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing. 25374402

2014
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.660 GeneticVariation BEFREE The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. 23656586

2013
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.410 Biomarker BEFREE RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). 24038909

2013
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.120 GeneticVariation BEFREE The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. 31067686

2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.120 Biomarker BEFREE Activation of PKCα and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions. 28030367

2017
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.110 GeneticVariation BEFREE Ear anomalies and nevus flammeus were associated with IC2/CDKN1C genotype (P<0.001). 25898929

2016
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.020 GeneticVariation BEFREE The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. 31067686

2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.020 GeneticVariation BEFREE The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. 31067686

2019
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.020 GeneticVariation BEFREE The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. 31067686

2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.020 Biomarker BEFREE Activation of PKCα and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions. 28030367

2017
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.020 Biomarker BEFREE Activation of PKCα and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions. 28030367

2017
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.020 Biomarker BEFREE Activation of PKCα and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions. 28030367

2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.010 GeneticVariation BEFREE BRAF V600E mutations were recently identified in some pyogenic granulomas of skin, particularly lesions arising in patients with port wine stains. 29406329

2019
Entrez Id: 2335
Gene Symbol: FN1
FN1
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.010 AlteredExpression BEFREE No difference was found in the expression of fibronectin in port-wine stain skin blood vessels. 16159522

2005