Progressive Cerebellar Ataxia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0393525
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Genes

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

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
AFP alpha-fetoprotein
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ANO10 anoctamin 10
APTX aprataxin
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP13A2 ATPase type 13A2
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8 ataxin 8
AUH AU RNA binding protein/enoyl-CoA hydratase
BRAF B-Raf proto-oncogene, serine/threonine kinase
C11ORF65 chromosome 11 open reading frame 65
C9ORF72 chromosome 9 open reading frame 72
CA8 carbonic anhydrase VIII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CLCN4 chloride channel, voltage-sensitive 4
CNTN1 contactin 1
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ8A coenzyme Q8A
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CSTB cystatin B (stefin B)
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DKK1 dickkopf WNT signaling pathway inhibitor 1
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
EEF2 eukaryotic translation elongation factor 2
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELOVL4 ELOVL fatty acid elongase 4
ERCC8 excision repair cross-complementation group 8
FGF14 fibroblast growth factor 14
FOLR1 folate receptor 1 (adult)
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FUS FUS RNA binding protein
FXN frataxin
GBA2 glucosidase, beta (bile acid) 2
GFAP glial fibrillary acidic protein
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLS glutaminase
GOSR2 golgi SNAP receptor complex member 2
GRID2 glutamate receptor, ionotropic, delta 2
HTT huntingtin
IL37 interleukin 37
IRF2BPL interferon regulatory factor 2 binding protein-like
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KARS1 lysyl-tRNA synthetase 1
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCTD7 potassium channel tetramerization domain containing 7
KIAA0586 KIAA0586
KIF1C kinesin family member 1C
LAMA1 laminin, alpha 1
LIPT1 lipoyltransferase 1
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MECP2 methyl CpG binding protein 2
MGME1 mitochondrial genome maintenance exonuclease 1
MME membrane metallo-endopeptidase
MRE11 MRE11 homolog, double strand break repair nuclease
MSTO1 misato 1, mitochondrial distribution and morphology regulator
MTCL1 microtubule crosslinking factor 1
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTPAP mitochondrial poly(A) polymerase
MVK mevalonate kinase
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA4 NDUFA4, mitochondrial complex associated
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NFASC neurofascin
OVOL2 ovo-like zinc finger 2
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDYN prodynorphin
PET100 PET100 homolog (S. cerevisiae)
PEX10 peroxisomal biogenesis factor 10
PEX6 peroxisomal biogenesis factor 6
PITRM1 pitrilysin metallopeptidase 1
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4
PMPCA peptidase (mitochondrial processing) alpha
PNKP polynucleotide kinase 3'-phosphatase
POLG polymerase (DNA directed), gamma
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRDM8 PR domain containing 8
PRKCG protein kinase C, gamma
PRNP prion protein
RFC1 replication factor C (activator 1) 1, 145kDa
SACS sacsin molecular chaperone
SCYL1 SCY1-like 1 (S. cerevisiae)
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SETX senataxin
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SNX14 sorting nexin 14
SPTBN1 spectrin, beta, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SQSTM1 sequestosome 1
SURF1 surfeit 1
SYN1 synapsin I
SYNE1 spectrin repeat containing, nuclear envelope 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TARDBP TAR DNA binding protein
TBK1 TANK-binding kinase 1
TBP TATA box binding protein
TGM6 transglutaminase 6
TMEM240 transmembrane protein 240
TPP1 tripeptidyl peptidase I
TSC1 tuberous sclerosis 1
TTBK2 tau tubulin kinase 2
TWNK twinkle mtDNA helicase
VCP valosin containing protein
WFS1 Wolfram syndrome 1 (wolframin)
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
ZNF106 zinc finger protein 106