Dystonia Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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Genes

49 genes involed in the disease Dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 5.0
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 5.0
DEPDC5 DEP domain containing 5 5.0
TMEM151A transmembrane protein 151A 4.0
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 4.0
GSX2 GS homeobox 2 4.0
TUBB4A tubulin, beta 4A class IVa 4.0
ATP5MC3 ATP synthase membrane subunit c locus 3 4.0
KMT2B lysine (K)-specific methyltransferase 2B 4.0
PNKD paroxysmal nonkinesigenic dyskinesia 4.0
TOR1A torsin family 1, member A (torsin A) 4.0
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 4.0
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 4.0
NUP54 nucleoporin 54kDa 4.0
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 4.0
AOPEP aminopeptidase O (putative) 4.0
TSPOAP1 TSPO associated protein 1 4.0
VPS16 vacuolar protein sorting 16 homolog (S. cerevisiae) 4.0
SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor 4.0
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 4.0
ANO3 anoctamin 3 4.0
PRRT2 proline-rich transmembrane protein 2 4.0
COL6A3 collagen, type VI, alpha 3 4.0
EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 4.0
SLC39A14 solute carrier family 39 (zinc transporter), member 14 4.0
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 4.0
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 4.0
GCH1 GTP cyclohydrolase 1 4.0
DRD5 dopamine receptor D5 4.0
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2 4.0
THAP1 THAP domain containing, apoptosis associated protein 1 4.0
TH tyrosine hydroxylase 4.0
KCTD17 potassium channel tetramerization domain containing 17 4.0
HPCA hippocalcin 4.0
KCNA4 potassium channel, voltage gated shaker related subfamily A, member 4 4.0
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 4.0
ACBD6 acyl-CoA binding domain containing 6 4.0
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 4.0
MECR mitochondrial trans-2-enoyl-CoA reductase 4.0
CIZ1 CDKN1A interacting zinc finger protein 1 4.0
NR4A2 nuclear receptor subfamily 4, group A, member 2 4.0
SGCE sarcoglycan, epsilon 4.0
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial 4.0
BCAP31 B-cell receptor-associated protein 31 4.0
ACTB actin, beta 4.0
FITM2 fat storage-inducing transmembrane protein 2 4.0
SLC30A10 solute carrier family 30, member 10 4.0
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator 4.0
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 4.0