Dentatorubral-Pallidoluysian Atrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A spinocerebellar degeneration that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. (Human Disease Ontology, DOID_0060162)
External Link https://www.disgenet.org/browser/0/1/0/C0751781
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Genes

88 genes associated with the disease Dentatorubral-Pallidoluysian Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADM adrenomedullin
ADORA1 adenosine A1 receptor
AFG3L2 AFG3-like AAA ATPase 2
ALB albumin
AR androgen receptor
ATN1 atrophin 1
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
BCL2 B-cell CLL/lymphoma 2
BEAN1 brain expressed, associated with NEDD4, 1
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CD99 CD99 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CERS1 ceramide synthase 1
CHD2 chromodomain helicase DNA binding protein 2
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CREBBP CREB binding protein
CRP C-reactive protein, pentraxin-related
CST3 cystatin C
EDN1 endothelin 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FABP1 fatty acid binding protein 1, liver
FGF14 fibroblast growth factor 14
FUS FUS RNA binding protein
FXN frataxin
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GORASP1 golgi reassembly stacking protein 1, 65kDa
GOSR2 golgi SNAP receptor complex member 2
GSTK1 glutathione S-transferase kappa 1
HAVCR1 hepatitis A virus cellular receptor 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMOX1 heme oxygenase 1
HTT huntingtin
IL18 interleukin 18
IL6 interleukin 6
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JPH3 junctophilin 3
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1
LCN2 lipocalin 2
LMNB2 lamin B2
LY6E lymphocyte antigen 6 complex, locus E
MAPK3 mitogen-activated protein kinase 3
MPO myeloperoxidase
NAGLU N-acetylglucosaminidase, alpha
NBAS neuroblastoma amplified sequence
NBR1 neighbor of BRCA1 gene 1
NES nestin
NEU1 sialidase 1 (lysosomal sialidase)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
PDYN prodynorphin
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4
POU5F1 POU class 5 homeobox 1
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRDM8 PR domain containing 8
PRKCG protein kinase C, gamma
PRNP prion protein
PTHLH parathyroid hormone-like hormone
RANGAP1 Ran GTPase activating protein 1
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RIPK2 receptor-interacting serine-threonine kinase 2
RSC1A1 regulatory solute carrier protein, family 1, member 1
SACS sacsin molecular chaperone
SCN7A sodium channel, voltage gated, type VII alpha subunit
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SPTBN2 spectrin, beta, non-erythrocytic 2
SUMO1 small ubiquitin-like modifier 1
SYT1 synaptotagmin I
TAF4 TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa
TBC1D24 TBC1 domain family, member 24
TBP TATA box binding protein
TK2 thymidine kinase 2, mitochondrial
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TSC1 tuberous sclerosis 1
TWNK twinkle mtDNA helicase
TYR tyrosinase
VWF von Willebrand factor
WNK1 WNK lysine deficient protein kinase 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase