×
Entrez Id:
6311
Gene Symbol:
ATXN2
ATXN2
0.320
Biomarker
disease
CTD_human
Levodopa-induced dyskinesias in spinocerebellar ataxia type 2.
20065139
2010
×
Entrez Id:
6311
Gene Symbol:
ATXN2
ATXN2
0.320
Biomarker
disease
CTD_human
Phenotype variability in spinocerebellar ataxia type 2: a longitudinal family survey and a case featuring an unusual benign course of disease.
19224595
2009
×
Entrez Id:
6311
Gene Symbol:
ATXN2
ATXN2
0.320
GeneticVariation
disease
BEFREE
Thirty-five patients belonged to the ADCA type I group (SCA1, 12; SCA2 , 10; SCA3, 13) and five to the ADCA type II group.
10366224
1999
×
Entrez Id:
6311
Gene Symbol:
ATXN2
ATXN2
0.320
Biomarker
disease
BEFREE
Using the 1C2 antibody which specifically recognizes large polyglutamine tracts, particularly those that are expanded, we recently reported the detection of proteins with pathological glutamine expansions in lymphoblasts from another form of ADCA type I, SCA2 , as well as from patients presenting with the distinct phenotype of ADCA type II .
8968739
1996
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.310
Biomarker
disease
CTD_human
The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit.
16899342
2007
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.310
Biomarker
disease
BEFREE
Except for SCA6 , the relationship between age at onset and CAG repeat expansion does not differ significantly between SCA-1, SCA2, SCA3, and SCA7 patient groups in our population, indicating that these SCA subtypes share similar mechanisms of polyglutamine-induced neurotoxicity, despite heterogeneity in gene products.
11889231
2002
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.310
Biomarker
disease
CTD_human
Efficacy and tolerability of acetazolamide in migraine prophylaxis: a randomised placebo-controlled trial.
11985388
2002
×
Entrez Id:
10939
Gene Symbol:
AFG3L2
AFG3L2
0.300
Biomarker
disease
CTD_human
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
20208537
2010
×
Entrez Id:
5582
Gene Symbol:
PRKCG
PRKCG
0.300
Biomarker
disease
CTD_human
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy.
20398063
2010
×
Entrez Id:
2296
Gene Symbol:
FOXC1
FOXC1
0.300
Biomarker
disease
CTD_human
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
19668217
2009
×
Entrez Id:
5521
Gene Symbol:
PPP2R2B
PPP2R2B
0.300
Biomarker
disease
CTD_human
The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission.
18940801
2008
×
Entrez Id:
23152
Gene Symbol:
CIC
CIC
0.300
Biomarker
disease
CTD_human
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.
18337722
2008
×
Entrez Id:
84991
Gene Symbol:
RBM17
RBM17
0.300
Biomarker
disease
CTD_human
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.
18337722
2008
×
Entrez Id:
146057
Gene Symbol:
TTBK2
TTBK2
0.300
Biomarker
disease
CTD_human
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
18037885
2007
×
Entrez Id:
342371
Gene Symbol:
ATXN1L
ATXN1L
0.300
Therapeutic
disease
CTD_human
Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.
17322884
2007
×
Entrez Id:
2672
Gene Symbol:
GFI1
GFI1
0.300
Biomarker
disease
CTD_human
The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins.
16122429
2005
×
Entrez Id:
57410
Gene Symbol:
SCYL1
SCYL1
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
200403
Gene Symbol:
VWA3B
VWA3B
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
440193
Gene Symbol:
CCDC88C
CCDC88C
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
10273
Gene Symbol:
STUB1
STUB1
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
2911
Gene Symbol:
GRM1
GRM1
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
6712
Gene Symbol:
SPTBN2
SPTBN2
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
10528
Gene Symbol:
NOP56
NOP56
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
51741
Gene Symbol:
WWOX
WWOX
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
9711
Gene Symbol:
RUBCN
RUBCN
0.300
Biomarker
disease
CTD_human