dystonia Gene Set
Genes
16 gene mutations causing the dystonia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
| Symbol |
Name |
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
DST
|
dystonin
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
HIPK2
|
homeodomain interacting protein kinase 2
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
INPP4A
|
inositol polyphosphate-4-phosphatase, type I, 107kDa
|
|
PCDH15
|
protocadherin-related 15
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
