Machado-Joseph Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A spinocerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. (Human Disease Ontology, DOID_1440)
External Link https://www.disgenet.org/browser/0/1/0/C0751668
Similar Terms
Downloads & Tools

Genes

128 genes associated with the disease Machado-Joseph Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACP1 acid phosphatase 1, soluble
ACY3 aminoacylase 3
AICDA activation-induced cytidine deaminase
APOE apolipoprotein E
AR androgen receptor
ARSB arylsulfatase B
ASIC1 acid sensing (proton gated) ion channel 1
ATG12 autophagy related 12
ATG16L2 autophagy related 16-like 2 (S. cerevisiae)
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
AVP arginine vasopressin
BAX BCL2-associated X protein
BBC3 BCL2 binding component 3
BEAN1 brain expressed, associated with NEDD4, 1
BECN1 beclin 1, autophagy related
CA11 carbonic anhydrase XI
CA8 carbonic anhydrase VIII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CAST calpastatin
CDK5 cyclin-dependent kinase 5
CFDP1 craniofacial development protein 1
CREB1 cAMP responsive element binding protein 1
CREBBP CREB binding protein
CST3 cystatin C
CTRL chymotrypsin-like
CUL1 cullin 1
DMPK dystrophia myotonica-protein kinase
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
EFNA3 ephrin-A3
EIF4G2 eukaryotic translation initiation factor 4 gamma, 2
ELAVL3 ELAV like neuron-specific RNA binding protein 3
FBXO33 F-box protein 33
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXO4 forkhead box O4
FUS FUS RNA binding protein
FXN frataxin
GABARAP GABA(A) receptor-associated protein
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GEMIN4 gem (nuclear organelle) associated protein 4
GFAP glial fibrillary acidic protein
GSTM2 glutathione S-transferase mu 2 (muscle)
HCRT hypocretin (orexin) neuropeptide precursor
HMBS hydroxymethylbilane synthase
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPBP1 HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1
HTT huntingtin
IGFALS insulin-like growth factor binding protein, acid labile subunit
IL1RN interleukin 1 receptor antagonist
IL6 interleukin 6
IRF1 interferon regulatory factor 1
IVL involucrin
KITLG KIT ligand
KPNA3 karyopherin alpha 3 (importin alpha 4)
LAMP2 lysosomal-associated membrane protein 2
LY6E lymphocyte antigen 6 complex, locus E
MMP2 matrix metallopeptidase 2
MSC musculin
MSI1 musashi RNA-binding protein 1
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
ND1
NEFL neurofilament, light polypeptide
NFE2L2 nuclear factor, erythroid 2-like 2
NPY neuropeptide Y
OPTN optineurin
PAH phenylalanine hydroxylase
PDIK1L PDLIM1 interacting kinase 1 like
PDYN prodynorphin
PICK1 protein interacting with PRKCA 1
PLA2G1B phospholipase A2, group IB (pancreas)
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4
PNKP polynucleotide kinase 3'-phosphatase
POU2F2 POU class 2 homeobox 2
PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B
PSMD2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2
PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
RAB1A RAB1A, member RAS oncogene family
RANGAP1 Ran GTPase activating protein 1
RMDN1 regulator of microtubule dynamics 1
RMDN2 regulator of microtubule dynamics 2
RMDN3 regulator of microtubule dynamics 3
RORA RAR-related orphan receptor A
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SKP1 S-phase kinase-associated protein 1
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC22A2 solute carrier family 22 (organic cation transporter), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SNAP29 synaptosomal-associated protein, 29kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SPTBN2 spectrin, beta, non-erythrocytic 2
SYBU syntabulin (syntaxin-interacting)
TAF4 TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa
TARDBP TAR DNA binding protein
TBP TATA box binding protein
TDO2 tryptophan 2,3-dioxygenase
TH tyrosine hydroxylase
TK2 thymidine kinase 2, mitochondrial
TMC3 transmembrane channel-like 3
TNF tumor necrosis factor
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TPO thyroid peroxidase
TSHZ1 teashirt zinc finger homeobox 1
TTR transthyretin
TWNK twinkle mtDNA helicase
UBB ubiquitin B
UBQLN2 ubiquilin 2
VCP valosin containing protein
ZUFSP zinc finger with UFM1-specific peptidase domain