cerebellar ataxia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A cerebellar disease characterized by ataxia originating in the cerebellum. (Human Disease Ontology, DOID_0050753)
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Genes

322 genes co-occuring with the disease cerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ATXN3 ataxin 3 2.3644
APTX aprataxin 2.28316
SETX senataxin 2.22339
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 2.15354
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 2.15199
ATXN7 ataxin 7 2.0563
PDYN prodynorphin 1.95347
SPTBN2 spectrin, beta, non-erythrocytic 2 1.88251
ATXN10 ataxin 10 1.84181
SACS sacsin molecular chaperone 1.83002
PRKCG protein kinase C, gamma 1.81194
C10ORF2 chromosome 10 open reading frame 2 1.75596
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 1.71134
ATM ATM serine/threonine kinase 1.61173
SIL1 SIL1 nucleotide exchange factor 1.59653
ADCK3 aarF domain containing kinase 3 1.59474
TTPA tocopherol (alpha) transfer protein 1.57824
BEAN1 brain expressed, associated with NEDD4, 1 1.46232
SYNE1 spectrin repeat containing, nuclear envelope 1 1.4443
PPP2R2B protein phosphatase 2, regulatory subunit B, beta 1.40264
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3 1.38909
TTBK2 tau tubulin kinase 2 1.37425
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 1.36597
ANO10 anoctamin 10 1.36553
AFG3L2 AFG3-like AAA ATPase 2 1.35333
WDR81 WD repeat domain 81 1.33196
ATXN2 ataxin 2 1.33152
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 1.25297
L2HGDH L-2-hydroxyglutarate dehydrogenase 1.24819
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.24776
HOMER3 homer scaffolding protein 3 1.24689
DPYSL5 dihydropyrimidinase-like 5 1.24254
VLDLR very low density lipoprotein receptor 1.22649
ATCAY ataxia, cerebellar, Cayman type 1.22302
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 1.18539
FXN frataxin 1.17851
ATXN1 ataxin 1 1.14602
PRNP prion protein 1.14009
GRM1 glutamate receptor, metabotropic 1 1.11772
SRD5A3 steroid 5 alpha-reductase 3 1.11015
ADCK2 aarF domain containing kinase 2 1.103
ZFYVE26 zinc finger, FYVE domain containing 26 1.10258
GRID2 glutamate receptor, ionotropic, delta 2 1.10258
ARHGAP26 Rho GTPase activating protein 26 1.08789
AFP alpha-fetoprotein 1.05976
FMR1 fragile X mental retardation 1 1.04167
POLG polymerase (DNA directed), gamma 1.02102
KIF1C kinesin family member 1C 1.00457
NOP56 NOP56 ribonucleoprotein 1.00457
NPC1 Niemann-Pick disease, type C1 1.00246
FGF14 fibroblast growth factor 14 0.984743
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 0.98011
DARS aspartyl-tRNA synthetase 0.962053
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.955361
NPC2 Niemann-Pick disease, type C2 0.94078
ANKFY1 ankyrin repeat and FYVE domain containing 1 0.938704
TDP1 tyrosyl-DNA phosphodiesterase 1 0.934141
AMPH amphiphysin 0.926279
SUMF1 sulfatase modifying factor 1 0.925039
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 0.919673
CP ceruloplasmin (ferroxidase) 0.919673
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 0.907731
CNTNAP2 contactin associated protein-like 2 0.902799
PTPRB protein tyrosine phosphatase, receptor type, B 0.901567
ATN1 atrophin 1 0.898282
CACNG2 calcium channel, voltage-dependent, gamma subunit 2 0.898282
GJC2 gap junction protein, gamma 2, 47kDa 0.891308
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 0.88475
TBP TATA box binding protein 0.882292
ABHD12 abhydrolase domain containing 12 0.880243
SPG11 spastic paraplegia 11 (autosomal recessive) 0.877376
COQ9 coenzyme Q9 0.874919
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 0.86714
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 0.866321
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 0.863046
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 0.849536
SBF2 SET binding factor 2 0.844621
NFASC neurofascin 0.836017
MVK mevalonate kinase 0.824948
SRSF9 serine/arginine-rich splicing factor 9 0.822897
ITM2B integral membrane protein 2B 0.820847
CALB1 calbindin 1, 28kDa 0.817976
TGM6 transglutaminase 6 0.817565
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 0.805667
TRH thyrotropin-releasing hormone 0.795411
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 0.794591
DDX19B DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 0.790081
DNER delta/notch-like EGF repeat containing 0.776977
TRPC3 transient receptor potential cation channel, subfamily C, member 3 0.776159
RELN reelin 0.767985
ZNF592 zinc finger protein 592 0.763902
GBA2 glucosidase, beta (bile acid) 2 0.757378
PHYH phytanoyl-CoA 2-hydroxylase 0.754934
TOE1 target of EGR1, member 1 (nuclear) 0.750864
HEXA hexosaminidase A (alpha polypeptide) 0.749237
MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 0.744766
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 0.728143
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 0.72127
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 0.72127
CRIPT cysteine-rich PDZ-binding protein 0.717635
DLGAP4 discs, large (Drosophila) homolog-associated protein 4 0.716021
RBM10 RNA binding motif protein 10 0.714408
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 0.711587
NPHP1 nephronophthisis 1 (juvenile) 0.710378
BARHL1 BarH-like homeobox 1 0.709169
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.690694
COX20 COX20 cytochrome c oxidase assembly factor 0.688692
TTC19 tetratricopeptide repeat domain 19 0.688291
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 0.683093
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 0.6791
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 0.670333
KIF20B kinesin family member 20B 0.66596
DNMT1 DNA (cytosine-5-)-methyltransferase 1 0.659215
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa 0.658422
CLMN calmin (calponin-like, transmembrane) 0.654067
KIF14 kinesin family member 14 0.652089
MTMR2 myotubularin related protein 2 0.651694
GDAP1 ganglioside induced differentiation associated protein 1 0.641039
CD79A CD79a molecule, immunoglobulin-associated alpha 0.635921
SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 0.632777
GAN gigaxonin 0.632777
DPYSL4 dihydropyrimidinase-like 4 0.631205
TSHZ3 teashirt zinc finger homeobox 3 0.62728
CA8 carbonic anhydrase VIII 0.625711
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1 0.614747
KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2 0.610448
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit 0.605762
RPL27A ribosomal protein L27a 0.593285
PRX periaxin 0.587054
PANK2 pantothenate kinase 2 0.583163
AFF2 AF4/FMR2 family, member 2 0.582773
CBLN1 cerebellin 1 precursor 0.571884
CHD6 chromodomain helicase DNA binding protein 6 0.569941
FTL ferritin, light polypeptide 0.563723
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 0.562169
SEZ6L2 seizure related 6 homolog (mouse)-like 2 0.559839
HEXB hexosaminidase B (beta polypeptide) 0.551686
CCDC88C coiled-coil domain containing 88C 0.551298
POLR3B polymerase (RNA) III (DNA directed) polypeptide B 0.550134
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 0.530381
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.520346
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 0.51842
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) 0.508808
ETF1 eukaryotic translation termination factor 1 0.504973
SCAI suppressor of cancer cell invasion 0.500379
GLB1 galactosidase, beta 1 0.498849
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 0.496175
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 0.491215
FAM126A family with sequence similarity 126, member A 0.490835
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 0.488549
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.483604
FTH1 ferritin, heavy polypeptide 1 0.482084
TMEM185A transmembrane protein 185A 0.479427
STRN striatin, calmodulin binding protein 0.479427
SOX1 SRY (sex determining region Y)-box 1 0.477909
GPR4 G protein-coupled receptor 4 0.47374
GBX2 gastrulation brain homeobox 2 0.471846
PARP9 poly (ADP-ribose) polymerase family, member 9 0.470332
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3 0.466172
CSTB cystatin B (stefin B) 0.465794
AHI1 Abelson helper integration site 1 0.461261
CDK14 cyclin-dependent kinase 14 0.459751
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 0.459373
TSEN54 TSEN54 tRNA splicing endonuclease subunit 0.458241
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 0.457487
PARK7 parkinson protein 7 0.457487
PNKP polynucleotide kinase 3'-phosphatase 0.455224
GLUD2 glutamate dehydrogenase 2 0.45447
CERS1 ceramide synthase 1 0.45447
PMM2 phosphomannomutase 2 0.452585
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 0.451078
NKX1-1 NK1 homeobox 1 0.449947
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3 0.434148
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 0.429266
RNF115 ring finger protein 115 0.428516
SFTPC surfactant protein C 0.427765
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 0.426265
ZIC4 Zic family member 4 0.419517
CARD16 caspase recruitment domain family, member 16 0.419142
NUP62 nucleoporin 62kDa 0.416521
PNMA2 paraneoplastic Ma antigen 2 0.411657
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 0.397843
ACRBP acrosin binding protein 0.396725
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 0.382594
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 0.381481
NEFL neurofilament, light polypeptide 0.378143
CAMTA1 calmodulin binding transcription activator 1 0.377031
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 0.374438
PLP1 proteolipid protein 1 0.372587
PSEN1 presenilin 1 0.371107
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7 0.370737
STAC SH3 and cysteine rich domain 0.369628
ARSA arylsulfatase A 0.369258
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0.368518
LSM1 LSM1, U6 small nuclear RNA associated 0.366301
GRIA2 glutamate receptor, ionotropic, AMPA 2 0.361502
LIG3 ligase III, DNA, ATP-dependent 0.356709
SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 0.355235
REEP1 receptor accessory protein 1 0.354868
C7ORF49 chromosome 7 open reading frame 49 0.354499
CAMP cathelicidin antimicrobial peptide 0.354131
SPAST spastin 0.354131
KIF1B kinesin family member 1B 0.350084
CEP290 centrosomal protein 290kDa 0.347144
MORF4 mortality factor 4 (pseudogene) 0.346409
GRM5 glutamate receptor, metabotropic 5 0.346409
ENO2 enolase 2 (gamma, neuronal) 0.345308
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 0.343106
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 0.342739
PHGDH phosphoglycerate dehydrogenase 0.342372
SYP synaptophysin 0.339806
KHSRP KH-type splicing regulatory protein 0.337608
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 0.325916
EGR2 early growth response 2 0.32373
JPH3 junctophilin 3 0.321909
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 0.32009
TMEM27 transmembrane protein 27 0.317545
AK5 adenylate kinase 5 0.315729
FOLR1 folate receptor 1 (adult) 0.305948
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 0.303781
LGI1 leucine-rich, glioma inactivated 1 0.299812
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 0.295851
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 0.294772
PEX2 peroxisomal biogenesis factor 2 0.294413
MBTPS2 membrane-bound transcription factor peptidase, site 2 0.294053
ZIC1 Zic family member 1 0.292616
DPP6 dipeptidyl-peptidase 6 0.290821
TNC tenascin C 0.282582
TMEM67 transmembrane protein 67 0.277227
ETFDH electron-transferring-flavoprotein dehydrogenase 0.276158
TF transferrin 0.275445
XPA xeroderma pigmentosum, complementation group A 0.273664
SIAH2 siah E3 ubiquitin protein ligase 2 0.27153
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 0.269753
IMPACT impact RWD domain protein 0.268687
ZNF569 zinc finger protein 569 0.26514
ZNF501 zinc finger protein 501 0.26514
ZNF763 zinc finger protein 763 0.26514
ZNF629 zinc finger protein 629 0.26514
POMC proopiomelanocortin 0.263014
NAGS N-acetylglutamate synthase 0.262306
STIP1 stress-induced phosphoprotein 1 0.261952
FLOT2 flotillin 2 0.261952
IGF1 insulin-like growth factor 1 (somatomedin C) 0.260538
NPTX2 neuronal pentraxin II 0.25877
PCNT pericentrin 0.257711
NDRG1 N-myc downstream regulated 1 0.254888
ZNF44 zinc finger protein 44 0.253127
APOH apolipoprotein H (beta-2-glycoprotein I) 0.252422
RICTOR RPTOR independent companion of MTOR, complex 2 0.251366
FGF8 fibroblast growth factor 8 (androgen-induced) 0.250311
RAI1 retinoic acid induced 1 0.250311
GFAP glial fibrillary acidic protein 0.24996
CST7 cystatin F (leukocystatin) 0.243295
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 0.243295
PAX6 paired box 6 0.242945
TENM1 teneurin transmembrane protein 1 0.242595
TPPP tubulin polymerization promoting protein 0.241895
MLF1 myeloid leukemia factor 1 0.238752
BCL6B B-cell CLL/lymphoma 6, member B 0.238403
RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 0.236312
GHRH growth hormone releasing hormone 0.236312
NEU3 sialidase 3 (membrane sialidase) 0.235964
IREB2 iron-responsive element binding protein 2 0.233878
UBTF upstream binding transcription factor, RNA polymerase I 0.231795
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) 0.226262
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 0.223853
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 0.223509
NPAT nuclear protein, ataxia-telangiectasia locus 0.218374
TTR transthyretin 0.218034
NPHP3 nephronophthisis 3 (adolescent) 0.217693
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 0.217352
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 0.215992
SRSF1 serine/arginine-rich splicing factor 1 0.207245
ACO2 aconitase 2, mitochondrial 0.20658
MFN2 mitofusin 2 0.204263
CKAP5 cytoskeleton associated protein 5 0.203933
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.201962
SDF4 stromal cell derived factor 4 0.200656
CA1 carbonic anhydrase I 0.200331
SEL1L sel-1 suppressor of lin-12-like (C. elegans) 0.199033
SOX10 SRY (sex determining region Y)-box 10 0.19742
GML glycosylphosphatidylinositol anchored molecule like 0.1936
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 0.1936
GRIA1 glutamate receptor, ionotropic, AMPA 1 0.193285
DNAH8 dynein, axonemal, heavy chain 8 0.192657
HES4 hes family bHLH transcription factor 4 0.190476
H2AFX H2A histone family, member X 0.18591
GRIA3 glutamate receptor, ionotropic, AMPA 3 0.185612
GJA3 gap junction protein, alpha 3, 46kDa 0.18472
CLCN2 chloride channel, voltage-sensitive 2 0.182957
BDNF brain-derived neurotrophic factor 0.180652
FNDC3A fibronectin type III domain containing 3A 0.180084
PABPC1 poly(A) binding protein, cytoplasmic 1 0.178126
MANBA mannosidase, beta A, lysosomal 0.177029
PANK1 pantothenate kinase 1 0.177029
ACO1 aconitase 1, soluble 0.176485
DCPS decapping enzyme, scavenger 0.175947
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 0.174617
LITAF lipopolysaccharide-induced TNF factor 0.174354
GRIK1 glutamate receptor, ionotropic, kainate 1 0.173571
AAAS achalasia, adrenocortical insufficiency, alacrimia 0.170544
ZNF436 zinc finger protein 436 0.170054
DHH desert hedgehog 0.164149
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.163523
HINT1 histidine triad nucleotide binding protein 1 0.163317
LYST lysosomal trafficking regulator 0.162505
NPHP4 nephronophthisis 4 0.162306
RPGRIP1L RPGRIP1-like 0.161139
AARS alanyl-tRNA synthetase 0.160761
RAB3A RAB3A, member RAS oncogene family 0.160761
RD3 retinal degeneration 3 0.160203
DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 0.160021
EN2 engrailed homeobox 2 0.160021
KIF21A kinesin family member 21A 0.160021
THEM5 thioesterase superfamily member 5 0.159124
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 0.158266
FHIT fragile histidine triad 0.147375
TNFRSF14 tumor necrosis factor receptor superfamily, member 14 0.145198
NCL nucleolin 0.145044
RAD51 RAD51 recombinase 0.142723
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 0.140822