Sturge-Weber Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. (Orphanet Rare Disease Ontology, Orphanet_3205)
External Link https://www.disgenet.org/browser/0/1/0/C0038505
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Genes

25 genes associated with the disease Sturge-Weber Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
EDN1 endothelin 1
FN1 fibronectin 1
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
KDR kinase insert domain receptor
LIFR leukemia inhibitory factor receptor alpha
MEF2C myocyte enhancer factor 2C
NF1 neurofibromin 1
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
PNPLA6 patatin-like phospholipase domain containing 6
POSTN periostin, osteoblast specific factor
PTPRC protein tyrosine phosphatase, receptor type, C
RASA1 RAS p21 protein activator (GTPase activating protein) 1
SNAP29 synaptosomal-associated protein, 29kDa
TEK TEK tyrosine kinase, endothelial
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VEGFA vascular endothelial growth factor A