Cerebellar Ataxia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A cerebellar disease characterized by ataxia originating in the cerebellum. (Human Disease Ontology, DOID_0050753)
External Link https://www.disgenet.org/browser/0/1/0/C1832585
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Genes

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

Symbol Name
APTX aprataxin
ATCAY ataxia, cerebellar, Cayman type
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BRD2 bromodomain containing 2
C9ORF72 chromosome 9 open reading frame 72
CA8 carbonic anhydrase VIII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CAMTA1 calmodulin binding transcription activator 1
CWF19L1 CWF19-like 1, cell cycle control (S. pombe)
DLGAP4 discs, large (Drosophila) homolog-associated protein 4
DNMT1 DNA (cytosine-5-)-methyltransferase 1
ELF2 E74-like factor 2 (ets domain transcription factor)
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FGF7 fibroblast growth factor 7
FLNC filamin C, gamma
FMR1 fragile X mental retardation 1
FXN frataxin
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
HDAC9 histone deacetylase 9
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HTN1 histatin 1
IL1A interleukin 1, alpha
INS insulin
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
LAMA1 laminin, alpha 1
MAP1LC3C microtubule-associated protein 1 light chain 3 gamma
MAPK3 mitogen-activated protein kinase 3
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MGME1 mitochondrial genome maintenance exonuclease 1
MMP9 matrix metallopeptidase 9
MUC1 mucin 1, cell surface associated
MUC19 mucin 19, oligomeric
MUC2 mucin 2, oligomeric mucus/gel-forming
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MUC5B mucin 5B, oligomeric mucus/gel-forming
MUC7 mucin 7, secreted
MUL1 mitochondrial E3 ubiquitin protein ligase 1
NAA50 N(alpha)-acetyltransferase 50, NatE catalytic subunit
NLRP1 NLR family, pyrin domain containing 1
OTUD4 OTU deubiquitinase 4
PARK2 parkin RBR E3 ubiquitin protein ligase
PDYN prodynorphin
PES1 pescadillo ribosomal biogenesis factor 1
PNPLA6 patatin-like phospholipase domain containing 6
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRL prolactin
RFC1 replication factor C (activator 1) 1, 145kDa
RNF216 ring finger protein 216
RTEL1 regulator of telomere elongation helicase 1
SACS sacsin molecular chaperone
SEL1L sel-1 suppressor of lin-12-like (C. elegans)
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
SETX senataxin
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SIL1 SIL1 nucleotide exchange factor
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein
SYNE1 spectrin repeat containing, nuclear envelope 1
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TRPC3 transient receptor potential cation channel, subfamily C, member 3
VEGFA vascular endothelial growth factor A
VLDLR very low density lipoprotein receptor
WDR81 WD repeat domain 81
XK X-linked Kx blood group
ZNF645 zinc finger protein 645