limb ataxia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A kind of ataxia that affects movements of the extremities. (Human Phenotype Ontology, HP_0002070)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002070
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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