Sturge-Weber Syndrome Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
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1 genes associated with the Sturge-Weber Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
GNAQ guanine nucleotide binding protein (G protein), q polypeptide