limb dystonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. (Human Phenotype Ontology, HP_0002451)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002451
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Genes

10 genes associated with the limb dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARX aristaless related homeobox
COL4A1 collagen, type IV, alpha 1
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
MAPT microtubule-associated protein tau
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
TUBB4A tubulin, beta 4A class IVa
Funding