Benign Essential Blepharospasm Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will. (Orphanet Rare Disease Ontology, Orphanet_93955)
External Link https://www.disgenet.org/browser/0/1/0/C2930898
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Genes

3 genes associated with the disease Benign Essential Blepharospasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
DRD5 dopamine receptor D5
SYNGAP1 synaptic Ras GTPase activating protein 1
TOR1A torsin family 1, member A (torsin A)