Focal Dystonia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A dystonia that is localized to a specific part of the body. (Human Disease Ontology, DOID_0050836)
External Link https://www.disgenet.org/browser/0/1/0/C0743332
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Genes

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

Symbol Name
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ARSG arylsulfatase G
ARX aristaless related homeobox
ATXN3 ataxin 3
BDNF brain-derived neurotrophic factor
DRD5 dopamine receptor D5
GCH1 GTP cyclohydrolase 1
GLRA1 glycine receptor, alpha 1
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
KMT2B lysine (K)-specific methyltransferase 2B
MAPT microtubule-associated protein tau
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PRKCG protein kinase C, gamma
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TOR1A torsin family 1, member A (torsin A)