Blepharospasm Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. (Human Disease Ontology, DOID_529)
External Link https://www.disgenet.org/browser/0/1/0/C0005747
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Genes

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

Symbol Name
AARS1 alanyl-tRNA synthetase 1
ADRA2B adrenoceptor alpha 2B
ANO3 anoctamin 3
ARSG arylsulfatase G
ATN1 atrophin 1
ATP13A2 ATPase type 13A2
BDNF brain-derived neurotrophic factor
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CHN1 chimerin 1
CIT citron rho-interacting serine/threonine kinase
COL25A1 collagen, type XXV, alpha 1
CP ceruloplasmin (ferroxidase)
DRD5 dopamine receptor D5
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FTL ferritin, light polypeptide
GNA14 guanine nucleotide binding protein (G protein), alpha 14
HPCA hippocalcin
HS1BP3 HCLS1 binding protein 3
HSPG2 heparan sulfate proteoglycan 2
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
KCTD17 potassium channel tetramerization domain containing 17
LRP2 low density lipoprotein receptor-related protein 2
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPT microtubule-associated protein tau
MCF2L MCF.2 cell line derived transforming sequence-like
NMS neuromedin S
OPN4 opsin 4
PANK2 pantothenate kinase 2
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
REEP4 receptor accessory protein 4
SCN4A sodium channel, voltage gated, type IV alpha subunit
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SYNGAP1 synaptic Ras GTPase activating protein 1
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBP TATA box binding protein
TCOF1 Treacher Collins-Franceschetti syndrome 1
THAP1 THAP domain containing, apoptosis associated protein 1
TOR1A torsin family 1, member A (torsin A)
TUBB4A tubulin, beta 4A class IVa
TWIST1 twist family bHLH transcription factor 1