Blepharospasm Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
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)
Similar Terms
Downloads & Tools

Genes

170 genes co-occuring with the disease Blepharospasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
THAP1 THAP domain containing, apoptosis associated protein 1 3.251
TOR1A torsin family 1, member A (torsin A) 3.07
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 2.85
ANO3 anoctamin 3 2.763
SGCE sarcoglycan, epsilon 2.698
CIZ1 CDKN1A interacting zinc finger protein 1 2.618
REEP4 receptor accessory protein 4 2.438
SNAP25 synaptosomal-associated protein, 25kDa 2.375
TOR2A torsin family 2, member A 2.366
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 2.324
PANK2 pantothenate kinase 2 2.303
CDIP1 cell death-inducing p53 target 1 2.239
GCH1 GTP cyclohydrolase 1 2.235
TAC1 tachykinin, precursor 1 2.159
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 2.135
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator 2.106
DRD5 dopamine receptor D5 2.072
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 2.047
TUBB4A tubulin, beta 4A class IVa 2.038
PRRT2 proline-rich transmembrane protein 2 2.014
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 1.99
SV2A synaptic vesicle glycoprotein 2A 1.98
PNKD paroxysmal nonkinesigenic dyskinesia 1.971
CTNS cystinosin, lysosomal cystine transporter 1.943
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 1.932
ARSG arylsulfatase G 1.931
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 1.922
HS1BP3 HCLS1 binding protein 3 1.915
LTBP2 latent transforming growth factor beta binding protein 2 1.902
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 1.899
KMT2B lysine (K)-specific methyltransferase 2B 1.889
KCTD17 potassium channel tetramerization domain containing 17 1.834
OPN4 opsin 4 1.815
ATCAY ataxia, cerebellar, Cayman type 1.814
SNCA synuclein, alpha (non A4 component of amyloid precursor) 1.778
CP ceruloplasmin (ferroxidase) 1.772
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 1.761
HPCA hippocalcin 1.761
LRRK2 leucine-rich repeat kinase 2 1.676
FOXC1 forkhead box C1 1.673
TRPV1 transient receptor potential cation channel, subfamily V, member 1 1.669
DRD2 dopamine receptor D2 1.638
PRKN parkin RBR E3 ubiquitin protein ligase 1.634
SV2C synaptic vesicle glycoprotein 2C 1.634
OR4B1 olfactory receptor, family 4, subfamily B, member 1 1.627
FTL ferritin, light polypeptide 1.627
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1) 1.619
DCAF17 DDB1 and CUL4 associated factor 17 1.614
REEP2 receptor accessory protein 2 1.614
TRPA1 transient receptor potential cation channel, subfamily A, member 1 1.59
TH tyrosine hydroxylase 1.563
SYT2 synaptotagmin II 1.553
MAOB monoamine oxidase B 1.549
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) 1.532
VPS16 vacuolar protein sorting 16 homolog (S. cerevisiae) 1.517
MAPT microtubule-associated protein tau 1.515
ATXN7 ataxin 7 1.513
ALB albumin 1.51
DNAH17 dynein, axonemal, heavy chain 17 1.507
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 1.503
PARK7 parkinson protein 7 1.497
OR4X2 olfactory receptor, family 4, subfamily X, member 2 (gene/pseudogene) 1.488
ATP2A3 ATPase, Ca++ transporting, ubiquitous 1.483
C19ORF12 chromosome 19 open reading frame 12 1.482
CAPN11 calpain 11 1.471
FBXO7 F-box protein 7 1.463
ATP13A2 ATPase type 13A2 1.46
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 1.455
REEP1 receptor accessory protein 1 1.448
PANK1 pantothenate kinase 1 1.441
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 1.44
TBP TATA box binding protein 1.438
FA2H fatty acid 2-hydroxylase 1.422
ADCY5 adenylate cyclase 5 1.407
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 1.4
AFG3L2 AFG3-like AAA ATPase 2 1.393
ATXN2 ataxin 2 1.388
ATXN3 ataxin 3 1.386
MAOA monoamine oxidase A 1.384
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.384
MPDU1 mannose-P-dolichol utilization defect 1 1.383
P2RX3 purinergic receptor P2X, ligand gated ion channel, 3 1.382
NGF nerve growth factor (beta polypeptide) 1.378
SNAP23 synaptosomal-associated protein, 23kDa 1.37
VIM vimentin 1.368
WDR45 WD repeat domain 45 1.359
COL6A3 collagen, type VI, alpha 3 1.352
SLC66A1 solute carrier family 66 member 1 1.343
GNA14 guanine nucleotide binding protein (G protein), alpha 14 1.338
SPTBN2 spectrin, beta, non-erythrocytic 2 1.336
BDNF brain-derived neurotrophic factor 1.331
COMT catechol-O-methyltransferase 1.331
PPP2R2B protein phosphatase 2, regulatory subunit B, beta 1.327
VPS13C vacuolar protein sorting 13 homolog C (S. cerevisiae) 1.315
SV2B synaptic vesicle glycoprotein 2B 1.314
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) 1.308
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3 1.291
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit 1.283
DRD1 dopamine receptor D1 1.283
DYTN dystrotelin 1.281
EFCAB6 EF-hand calcium binding domain 6 1.28
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 1.276
PINK1 PTEN induced putative kinase 1 1.272
ZFP1 ZFP1 zinc finger protein 1.27
LTBP3 latent transforming growth factor beta binding protein 3 1.241
PRKCG protein kinase C, gamma 1.234
PAX6 paired box 6 1.229
COASY CoA synthase 1.227
MOBP myelin-associated oligodendrocyte basic protein 1.209
GPA33 glycoprotein A33 (transmembrane) 1.208
DRD3 dopamine receptor D3 1.207
CLCN1 chloride channel, voltage-sensitive 1 1.206
ADORA2A adenosine A2a receptor 1.203
PITX2 paired-like homeodomain 2 1.202
MMP9 matrix metallopeptidase 9 1.193
HSPG2 heparan sulfate proteoglycan 2 1.188
ACHE acetylcholinesterase (Yt blood group) 1.188
RAB12 RAB12, member RAS oncogene family 1.187
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 1.187
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) 1.177
SYNE1 spectrin repeat containing, nuclear envelope 1 1.176
IL6 interleukin 6 1.169
TGFB1 transforming growth factor, beta 1 1.166
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 1.157
WDR36 WD repeat domain 36 1.151
TOR1AIP2 torsin A interacting protein 2 1.144
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 1.142
IL1B interleukin 1, beta 1.138
BCHE butyrylcholinesterase 1.135
TTBK2 tau tubulin kinase 2 1.13
ANK1 ankyrin 1, erythrocytic 1.126
KRT12 keratin 12, type I 1.125
TMEM151A transmembrane protein 151A 1.124
ATXN10 ataxin 10 1.115
NALCN sodium leak channel, non selective 1.094
TARDBP TAR DNA binding protein 1.091
RAMP1 receptor (G protein-coupled) activity modifying protein 1 1.084
THAP8 THAP domain containing 8 1.081
SMAD9 SMAD family member 9 1.078
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.077
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 1.077
CKMT1B creatine kinase, mitochondrial 1B 1.076
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1.076
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 1.075
ANO10 anoctamin 10 1.074
CKB creatine kinase, brain 1.073
CKM creatine kinase, muscle 1.072
CALB1 calbindin 1, 28kDa 1.065
NSF N-ethylmaleimide-sensitive factor 1.061
MYH14 myosin, heavy chain 14, non-muscle 1.06
NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 1.058
FUS FUS RNA binding protein 1.058
FGF14 fibroblast growth factor 14 1.053
SETX senataxin 1.048
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 1.045
DNAH8 dynein, axonemal, heavy chain 8 1.044
FOS FBJ murine osteosarcoma viral oncogene homolog 1.042
VSX1 visual system homeobox 1 1.031
THAP6 THAP domain containing 6 1.031
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.03
STX6 syntaxin 6 1.028
AIRE autoimmune regulator 1.026
PANK3 pantothenate kinase 3 1.025
CHAT choline O-acetyltransferase 1.023
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3 1.017
TOR3A torsin family 3, member A 1.011
MECR mitochondrial trans-2-enoyl-CoA reductase 1.009
TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 1.008
POLG polymerase (DNA directed), gamma 1.003
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 1.001