Dopa-Responsive 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/C1851920
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Genes

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

Symbol Name
ATM ATM serine/threonine kinase
ATXN3 ataxin 3
CIT citron rho-interacting serine/threonine kinase
CTSC cathepsin C
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
GCH1 GTP cyclohydrolase 1
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
HPD 4-hydroxyphenylpyruvate dioxygenase
KLK3 kallikrein-related peptidase 3
MTG1 mitochondrial ribosome-associated GTPase 1
NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)
NPEPPS aminopeptidase puromycin sensitive
PAH phenylalanine hydroxylase
PARK2 parkin RBR E3 ubiquitin protein ligase
PLAG1 pleiomorphic adenoma gene 1
PROS1 protein S (alpha)
PSAT1 phosphoserine aminotransferase 1
SGCE sarcoglycan, epsilon
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SOX6 SRY (sex determining region Y)-box 6
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
TH tyrosine hydroxylase
TOR1A torsin family 1, member A (torsin A)