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