Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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