Spinocerebellar Ataxia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A spinocerebellar degeneration that is characterized by degeneration of the cerebellum leading to loss of muscle coordination. (Human Disease Ontology, DOID_1441)
External Link https://www.disgenet.org/browser/0/1/0/C0752120
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Genes

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

Symbol Name
ACTB actin, beta
ACTR1A ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)
AFG3L2 AFG3-like AAA ATPase 2
AFP alpha-fetoprotein
ALB albumin
ANGPTL1 angiopoietin-like 1
ANK1 ankyrin 1, erythrocytic
ANK2 ankyrin 2, neuronal
ANO10 anoctamin 10
ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A
APLP2 amyloid beta (A4) precursor-like protein 2
APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2
APOC3 apolipoprotein C-III
APP amyloid beta (A4) precursor protein
APTX aprataxin
AR androgen receptor
ARFRP1 ADP-ribosylation factor related protein 1
ATG12 autophagy related 12
ATG5 autophagy related 5
ATN1 atrophin 1
ATOX1 antioxidant 1 copper chaperone
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP5F1B ATP synthase F1 subunit beta
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN1L ataxin 1-like
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8 ataxin 8
BACE1 beta-site APP-cleaving enzyme 1
BBS1 Bardet-Biedl syndrome 1
BDNF brain-derived neurotrophic factor
BEAN1 brain expressed, associated with NEDD4, 1
C21ORF62 chromosome 21 open reading frame 62
C9ORF72 chromosome 9 open reading frame 72
CA8 carbonic anhydrase VIII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CALB1 calbindin 1, 28kDa
CANT1 calcium activated nucleotidase 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP7 caspase 7, apoptosis-related cysteine peptidase
CAT catalase
CCDC88C coiled-coil domain containing 88C
CELF1 CUGBP, Elav-like family member 1
CHD6 chromodomain helicase DNA binding protein 6
CIC capicua transcriptional repressor
CIT citron rho-interacting serine/threonine kinase
CNTN4 contactin 4
COIL coilin
COQ8A coenzyme Q8A
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CREBBP CREB binding protein
CRX cone-rod homeobox
CSF1R colony stimulating factor 1 receptor
CSF3 colony stimulating factor 3 (granulocyte)
CTCF CCCTC-binding factor (zinc finger protein)
CTSD cathepsin D
CWF19L1 CWF19-like 1, cell cycle control (S. pombe)
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAP death-associated protein
DCTN4 dynactin 4 (p62)
DDX19A DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A
DDX46 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46
DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16
DNAAF3 dynein, axonemal, assembly factor 3
DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPYSL3 dihydropyrimidinase-like 3
EDN1 endothelin 1
EEF2 eukaryotic translation elongation factor 2
EIF3F eukaryotic translation initiation factor 3, subunit F
EIF4E eukaryotic translation initiation factor 4E
ELOVL5 ELOVL fatty acid elongase 5
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EPHA3 EPH receptor A3
ESRRB estrogen-related receptor beta
ETV6 ets variant 6
FAP fibroblast activation protein, alpha
FAT2 FAT atypical cadherin 2
FGF14 fibroblast growth factor 14
FOXC1 forkhead box C1
FUS FUS RNA binding protein
FXN frataxin
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GFI1 growth factor independent 1 transcription repressor
GLO1 glyoxalase I
GRID2 glutamate receptor, ionotropic, delta 2
GRM1 glutamate receptor, metabotropic 1
GSTK1 glutathione S-transferase kappa 1
GSTO1 glutathione S-transferase omega 1
GSTO2 glutathione S-transferase omega 2
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GUCA1A guanylate cyclase activator 1A (retina)
HAP1 huntingtin-associated protein 1
HDAC3 histone deacetylase 3
HDAC9 histone deacetylase 9
HLA-A major histocompatibility complex, class I, A
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HPGDS hematopoietic prostaglandin D synthase
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
HSF1 heat shock transcription factor 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA1A heat shock 70kDa protein 1A
HSPA1B heat shock 70kDa protein 1B
HSPA4 heat shock 70kDa protein 4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPA8 heat shock 70kDa protein 8
HSPB1 heat shock 27kDa protein 1
HTT huntingtin
HYOU1 hypoxia up-regulated 1
IFNB1 interferon, beta 1, fibroblast
IFRD1 interferon-related developmental regulator 1
IGFALS insulin-like growth factor binding protein, acid labile subunit
IL1B interleukin 1, beta
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
IVL involucrin
JMJD8 jumonji domain containing 8
JPH3 junctophilin 3
KAT2A K(lysine) acetyltransferase 2A
KAT5 K(lysine) acetyltransferase 5
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KIAA0226 KIAA0226
KIF1A kinesin family member 1A
KLHL1 kelch-like family member 1
LHCGR luteinizing hormone/choriogonadotropin receptor
LIG4 ligase IV, DNA, ATP-dependent
LMNB1 lamin B1
LY6E lymphocyte antigen 6 complex, locus E
MANF mesencephalic astrocyte-derived neurotrophic factor
MBNL1 muscleblind-like splicing regulator 1
MME membrane metallo-endopeptidase
MPI mannose phosphate isomerase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYD88 myeloid differentiation primary response 88
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NFE2L2 nuclear factor, erythroid 2-like 2
NIPBL Nipped-B homolog (Drosophila)
NLK nemo-like kinase
NOP56 NOP56 ribonucleoprotein
NOX1 NADPH oxidase 1
NQO1 NAD(P)H dehydrogenase, quinone 1
NR2F2 nuclear receptor subfamily 2, group F, member 2
NUP62 nucleoporin 62kDa
OMA1 OMA1 zinc metallopeptidase
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
P4HB prolyl 4-hydroxylase, beta polypeptide
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PAH phenylalanine hydroxylase
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PCBP4 poly(rC) binding protein 4
PCP2 Purkinje cell protein 2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDIA3 protein disulfide isomerase family A, member 3
PDYN prodynorphin
PEX6 peroxisomal biogenesis factor 6
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PINK1 PTEN induced putative kinase 1
PITX2 paired-like homeodomain 2
PLA2G1B phospholipase A2, group IB (pancreas)
PLB1 phospholipase B1
PLD3 phospholipase D family, member 3
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4
PML promyelocytic leukemia
PMPCA peptidase (mitochondrial processing) alpha
PNKP polynucleotide kinase 3'-phosphatase
POLG polymerase (DNA directed), gamma
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PQBP1 polyglutamine binding protein 1
PRKCG protein kinase C, gamma
PRNP prion protein
PRPF8 pre-mRNA processing factor 8
PTPA protein phosphatase 2 phosphatase activator
PUM1 pumilio RNA-binding family member 1
PVALB parvalbumin
RAI1 retinoic acid induced 1
RAN RAN, member RAS oncogene family
RBM17 RNA binding motif protein 17
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RELN reelin
REM1 RAS (RAD and GEM)-like GTP-binding 1
RGS8 regulator of G-protein signaling 8
RNF4 ring finger protein 4
RPA1 replication protein A1, 70kDa
RPE65 retinal pigment epithelium-specific protein 65kDa
RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5
S100B S100 calcium binding protein B
SACS sacsin molecular chaperone
SAR1A secretion associated, Ras related GTPase 1A
SCYL1 SCY1-like 1 (S. cerevisiae)
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SEPT3 septin 3
SETX senataxin
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1)
SNX14 sorting nexin 14
SOD1 superoxide dismutase 1, soluble
SOD3 superoxide dismutase 3, extracellular
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPTBN1 spectrin, beta, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SPTLC3 serine palmitoyltransferase, long chain base subunit 3
SQSTM1 sequestosome 1
STAU1 staufen double-stranded RNA binding protein 1
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUMF1 sulfatase modifying factor 1
SUMO1 small ubiquitin-like modifier 1
SUMO2 small ubiquitin-like modifier 2
SUPT3H suppressor of Ty 3 homolog (S. cerevisiae)
SUPT4H1 suppressor of Ty 4 homolog 1 (S. cerevisiae)
SYNE1 spectrin repeat containing, nuclear envelope 1
SYT14 synaptotagmin XIV
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TARDBP TAR DNA binding protein
TBP TATA box binding protein
TCTE1 t-complex-associated-testis-expressed 1
TDP1 tyrosyl-DNA phosphodiesterase 1
TDP2 tyrosyl-DNA phosphodiesterase 2
TGM2 transglutaminase 2
TGM6 transglutaminase 6
TK2 thymidine kinase 2, mitochondrial
TMEM240 transmembrane protein 240
TNF tumor necrosis factor
TOP1 topoisomerase (DNA) I
TP53 tumor protein p53
TPO thyroid peroxidase
TPP1 tripeptidyl peptidase I
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TRRAP transformation/transcription domain-associated protein
TSHZ1 teashirt zinc finger homeobox 1
TTBK2 tau tubulin kinase 2
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUBB6 tubulin, beta 6 class V
TWNK twinkle mtDNA helicase
TXNRD1 thioredoxin reductase 1
UBA5 ubiquitin-like modifier activating enzyme 5
UBE2E1 ubiquitin-conjugating enzyme E2E 1
UBE3A ubiquitin protein ligase E3A
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
ULK1 unc-51 like autophagy activating kinase 1
VEGFA vascular endothelial growth factor A
VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae)
VWA3B von Willebrand factor A domain containing 3B
WASF1 WAS protein family, member 1
WDR73 WD repeat domain 73
WWOX WW domain containing oxidoreductase
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ZFYVE9 zinc finger, FYVE domain containing 9
ZIC1 Zic family member 1
ZNF592 zinc finger protein 592