×
Entrez Id:
6314
Gene Symbol:
ATXN7
ATXN7
0.300
Biomarker
disease
CTD_human
Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.
25664129
2014
×
Entrez Id:
25894
Gene Symbol:
PLEKHG4
PLEKHG4
0.300
GeneticVariation
disease
ORPHANET
Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.
21267591
2011
×
Entrez Id:
6311
Gene Symbol:
ATXN2
ATXN2
0.300
Biomarker
disease
CTD_human
Levodopa-induced dyskinesias in spinocerebellar ataxia type 2.
20065139
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:
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:
6311
Gene Symbol:
ATXN2
ATXN2
0.300
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:
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:
6310
Gene Symbol:
ATXN1
ATXN1
0.300
Biomarker
disease
CTD_human
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.
18337722
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:
25894
Gene Symbol:
PLEKHG4
PLEKHG4
0.300
GeneticVariation
disease
ORPHANET
Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic.
18293026
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:
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:
773
Gene Symbol:
CACNA1A
CACNA1A
0.300
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:
6310
Gene Symbol:
ATXN1
ATXN1
0.300
Biomarker
disease
CTD_human
Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.
17322884
2007
×
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:
6310
Gene Symbol:
ATXN1
ATXN1
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:
773
Gene Symbol:
CACNA1A
CACNA1A
0.300
Biomarker
disease
CTD_human
Efficacy and tolerability of acetazolamide in migraine prophylaxis: a randomised placebo-controlled trial.
11985388
2002
×
Entrez Id:
6310
Gene Symbol:
ATXN1
ATXN1
0.300
Biomarker
disease
CTD_human
Phenotypic effects of expanded ataxin-1 polyglutamines with interruptions in vitro.
11719269
2002
×
Entrez Id:
51567
Gene Symbol:
TDP2
TDP2
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
343641
Gene Symbol:
TGM6
TGM6
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
2911
Gene Symbol:
GRM1
GRM1
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
440193
Gene Symbol:
CCDC88C
CCDC88C
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
79876
Gene Symbol:
UBA5
UBA5
0.300
Biomarker
disease
CTD_human