Episodic Ataxia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. (Human Disease Ontology, DOID_963)
External Link https://www.disgenet.org/browser/0/1/0/C1719788
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Genes

56 genes associated with the disease Episodic Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ARX aristaless related homeobox
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATXN1 ataxin 1
ATXN3 ataxin 3
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CD69 CD69 molecule
CDKL5 cyclin-dependent kinase-like 5
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
FGF14 fibroblast growth factor 14
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRK2 G protein-coupled receptor kinase 2
HMGB1 high mobility group box 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNA6 potassium channel, voltage gated shaker related subfamily A, member 6
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
MUL1 mitochondrial E3 ubiquitin protein ligase 1
NEUROD2 neuronal differentiation 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
OTC ornithine carbamoyltransferase
PARK2 parkin RBR E3 ubiquitin protein ligase
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PNKD paroxysmal nonkinesigenic dyskinesia
PNKP polynucleotide kinase 3'-phosphatase
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRKCG protein kinase C, gamma
PRKCSH protein kinase C substrate 80K-H
PRRT2 proline-rich transmembrane protein 2
RNF138 ring finger protein 138, E3 ubiquitin protein ligase
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SIK1 salt-inducible kinase 1
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SSRP1 structure specific recognition protein 1
STAT4 signal transducer and activator of transcription 4
STXBP1 syntaxin binding protein 1
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TRIM8 tripartite motif containing 8
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TWNK twinkle mtDNA helicase
UBR4 ubiquitin protein ligase E3 component n-recognin 4
ZNF645 zinc finger protein 645