Cerebellar Degeneration Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0262404
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Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
AGTPBP1 ATP/GTP binding protein 1
AKR1C4 aldo-keto reductase family 1, member C4
ALKBH7 alkB, alkylation repair homolog 7 (E. coli)
AP2B1 adaptor-related protein complex 2, beta 1 subunit
APP amyloid beta (A4) precursor protein
ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2
ATM ATM serine/threonine kinase
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
C4BPA complement component 4 binding protein, alpha
C9ORF72 chromosome 9 open reading frame 72
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CARD14 caspase recruitment domain family, member 14
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDR2 cerebellar degeneration-related protein 2, 62kDa
CDR2L cerebellar degeneration-related protein 2-like
CNTN4 contactin 4
CSTB cystatin B (stefin B)
CTNNBL1 catenin, beta like 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
ELANE elastase, neutrophil expressed
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3
GRM1 glutamate receptor, metabotropic 1
GRM5 glutamate receptor, metabotropic 5
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPB1 heat shock 27kDa protein 1
LY6E lymphocyte antigen 6 complex, locus E
MRE11 MRE11 homolog, double strand break repair nuclease
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
PARP1 poly (ADP-ribose) polymerase 1
PNKP polynucleotide kinase 3'-phosphatase
PNPLA6 patatin-like phospholipase domain containing 6
PRDX2 peroxiredoxin 2
PRNP prion protein
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
SAR1A secretion associated, Ras related GTPase 1A
SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor
SLC2A4RG SLC2A4 regulator
SOX3 SRY (sex determining region Y)-box 3
SPTBN2 spectrin, beta, non-erythrocytic 2
SRY sex determining region Y
SYNE1 spectrin repeat containing, nuclear envelope 1
TDP1 tyrosyl-DNA phosphodiesterase 1
TGM6 transglutaminase 6
TOP1 topoisomerase (DNA) I
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2I ubiquitin-conjugating enzyme E2I
VWA3B von Willebrand factor A domain containing 3B
ZFYVE9 zinc finger, FYVE domain containing 9