Dystonia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0751093
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Genes

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

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ADAR adenosine deaminase, RNA-specific
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ANO3 anoctamin 3
APOE apolipoprotein E
ARAF A-Raf proto-oncogene, serine/threonine kinase
ARSG arylsulfatase G
ASS1 argininosuccinate synthase 1
ATM ATM serine/threonine kinase
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
BDNF brain-derived neurotrophic factor
BTK Bruton agammaglobulinemia tyrosine kinase
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CIT citron rho-interacting serine/threonine kinase
CIZ1 CDKN1A interacting zinc finger protein 1
COL6A3 collagen, type VI, alpha 3
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DLG3 discs, large homolog 3 (Drosophila)
DSC3 desmocollin 3
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
FOXO4 forkhead box O4
GCH1 GTP cyclohydrolase 1
GLRA1 glycine receptor, alpha 1
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRM5 glutamate receptor, metabotropic 5
GSN gelsolin
HPCA hippocalcin
IL6 interleukin 6
KCTD17 potassium channel tetramerization domain containing 17
KMT2B lysine (K)-specific methyltransferase 2B
LRP2 low density lipoprotein receptor-related protein 2
MCEE methylmalonyl CoA epimerase
MCF2L MCF.2 cell line derived transforming sequence-like
MECR mitochondrial trans-2-enoyl-CoA reductase
MST1R macrophage stimulating 1 receptor
NMU neuromedin U
NONO non-POU domain containing, octamer-binding
NPY neuropeptide Y
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PGK1 phosphoglycerate kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLXNA2 plexin A2
PNKD paroxysmal nonkinesigenic dyskinesia
POMC proopiomelanocortin
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRL prolactin
PRRT2 proline-rich transmembrane protein 2
PSEN1 presenilin 1
PTS 6-pyruvoyltetrahydropterin synthase
RBBP6 retinoblastoma binding protein 6
SGCE sarcoglycan, epsilon
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC30A10 solute carrier family 30, member 10
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
STOM stomatin
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBP TATA box binding protein
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
TNF tumor necrosis factor
TOR1A torsin family 1, member A (torsin A)
TPP1 tripeptidyl peptidase I
TUBB4A tubulin, beta 4A class IVa
VEGFA vascular endothelial growth factor A
VPS16 vacuolar protein sorting 16 homolog (S. cerevisiae)
ZNF415 zinc finger protein 415