truncal ataxia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. (Human Phenotype Ontology, HP_0002078)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002078
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Genes

23 genes associated with the truncal 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
ADGRG1 adhesion G protein-coupled receptor G1
APTX aprataxin
ASPNAT aspartate N-acetyltransferase
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN1 ataxin 1
ATXN3 ataxin 3
COG5 component of oligomeric golgi complex 5
EEF2 eukaryotic translation elongation factor 2
FGF14 fibroblast growth factor 14
HARS histidyl-tRNA synthetase
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCTD7 potassium channel tetramerization domain containing 7
MECP2 methyl CpG binding protein 2
PRNP prion protein
SACS sacsin molecular chaperone
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SYT14 synaptotagmin XIV
VLDLR very low density lipoprotein receptor
WDR81 WD repeat domain 81