Source: BEFREE

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ 		G protein subunit alpha q 0.516 0.808 0.98
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.660 None 1.000 6 1 2013 2020
Entrez Id: 5921
Gene Symbol: RASA1
RASA1 		RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.410 None 1.000 1 0 2003 2013
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.120 None 1.000 2 0 2017 2019
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C 		cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 2335
Gene Symbol: FN1
FN1 		fibronectin 1 0.365 0.962 1.4E-03
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.010 None 1.000 1 2 2019 2019