focal dystonia Gene Set
Genes
29 genes associated with the focal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ANO3
|
anoctamin 3
|
|
ARX
|
aristaless related homeobox
|
|
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
|
|
PRKCG
|
protein kinase C, gamma
|
|
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
|
