craniofacial dystonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. (Human Disease Ontology, DOID_0050845)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012179
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Genes

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

Symbol Name
ANO3 anoctamin 3
ATP13A2 ATPase type 13A2
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
C19ORF12 chromosome 19 open reading frame 12
COASY CoA synthase
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLEC11 collectin sub-family member 11
CP ceruloplasmin (ferroxidase)
DRD2 dopamine receptor D2
FTL ferritin, light polypeptide
GCH1 GTP cyclohydrolase 1
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
MAPT microtubule-associated protein tau
PANK2 pantothenate kinase 2
PARK7 parkinson protein 7
PNKD paroxysmal nonkinesigenic dyskinesia
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
SCP2 sterol carrier protein 2
SGCE sarcoglycan, epsilon
SYNGAP1 synaptic Ras GTPase activating protein 1
TGM6 transglutaminase 6
THAP1 THAP domain containing, apoptosis associated protein 1
TOR1A torsin family 1, member A (torsin A)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TUBB4A tubulin, beta 4A class IVa