Port-Wine Stain Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0235752
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Genes

43 genes associated with the disease Port-Wine Stain in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CLIP2 CAP-GLY domain containing linker protein 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
ELN elastin
FGFR1 fibroblast growth factor receptor 1
FN1 fibronectin 1
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
IGF2 insulin-like growth factor 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KDR kinase insert domain receptor
KLHL7 kelch-like family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LIMK1 LIM domain kinase 1
LTBP2 latent transforming growth factor beta binding protein 2
MIPEP mitochondrial intermediate peptidase
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NEK9 NIMA-related kinase 9
NXN nucleoredoxin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
RAD51 RAD51 recombinase
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RFC2 replication factor C (activator 1) 2, 40kDa
RHOBTB2 Rho-related BTB domain containing 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
TBL2 transducin (beta)-like 2
TEK TEK tyrosine kinase, endothelial
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VEGFA vascular endothelial growth factor A
WNT5A wingless-type MMTV integration site family, member 5A