blepharospasm Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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)
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Genes

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

Symbol Name Standardized Value
CAMP cathelicidin antimicrobial peptide 2.64894
THAP1 THAP domain containing, apoptosis associated protein 1 1.81104
OMD osteomodulin 1.66104
MECR mitochondrial trans-2-enoyl-CoA reductase 1.28392
TOR1A torsin family 1, member A (torsin A) 1.26603
GCH1 GTP cyclohydrolase 1 1.21132
TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 1.15794
MYOM1 myomesin 1 1.07362
DRD5 dopamine receptor D5 1.07236
ZFYVE1 zinc finger, FYVE domain containing 1 1.03493
LEO1 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 1.03493
CDIP1 cell death-inducing p53 target 1 1.02566
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 1.0168
BCO1 beta-carotene oxygenase 1 0.984321
SON SON DNA binding protein 0.977165
TSR1 TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 0.975062
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 0.899103
RFXANK regulatory factor X-associated ankyrin-containing protein 0.842163
AFG3L2 AFG3-like AAA ATPase 2 0.838476
AADAT aminoadipate aminotransferase 0.827819
CCBL1 cysteine conjugate-beta lyase, cytoplasmic 0.794591
DYNLRB1 dynein, light chain, roadblock-type 1 0.690293
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 0.629242
MNT MAX network transcriptional repressor 0.572273
CADM1 cell adhesion molecule 1 0.552851
ZNF77 zinc finger protein 77 0.546644
MRPL49 mitochondrial ribosomal protein L49 0.539667
BBS1 Bardet-Biedl syndrome 1 0.512648
PANK2 pantothenate kinase 2 0.511496
CP ceruloplasmin (ferroxidase) 0.501909
CLCN1 chloride channel, voltage-sensitive 1 0.497321
DAND5 DAN domain family member 5, BMP antagonist 0.496939
TOX thymocyte selection-associated high mobility group box 0.489311
RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) 0.474498
PER1 period circadian clock 1 0.454093
SRCIN1 SRC kinase signaling inhibitor 1 0.421765
ANO1 anoctamin 1, calcium activated chloride channel 0.421016
LAMB2 laminin, beta 2 (laminin S) 0.389653
PER3 period circadian clock 3 0.333583
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 0.324094
LIG3 ligase III, DNA, ATP-dependent 0.289386
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.26266
CRH corticotropin releasing hormone 0.260538
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 0.234225
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 0.221793
BDNF brain-derived neurotrophic factor 0.220424
CALB1 calbindin 1, 28kDa 0.198709
NOTCH1 notch 1 0.174881
PER2 period circadian clock 2 0.172544
ACHE acetylcholinesterase (Yt blood group) 0.170544
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 0.161139