limb ataxia Gene Set
Genes
30 genes associated with the limb ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ANO10
|
anoctamin 10
|
|
APTX
|
aprataxin
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
FGF14
|
fibroblast growth factor 14
|
|
FXN
|
frataxin
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
PDYN
|
prodynorphin
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRNP
|
prion protein
|
|
SETX
|
senataxin
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SYT14
|
synaptotagmin XIV
|
|
TBP
|
TATA box binding protein
|
|
TPP1
|
tripeptidyl peptidase I
|
|
WWOX
|
WW domain containing oxidoreductase
|
