Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease BEFREE Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy. 30933216 2019
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease BEFREE To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2, SCA3 and SCA6. 29959555 2018
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease BEFREE As sleep disturbances have been reported in spinocerebellar ataxias (SCAs), including types SCA1, SCA2, SCA3, SCA6 and SCA13, identification and management of these disturbances can help minimise their impact on SCA patients' overall body functions and quality of life. 29624773 2018
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease BEFREE CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6). 25735478 2015
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease BEFREE These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1). 26077168 2015
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease BEFREE About 50 % of Thai patients with adult-onset spinocerebellar ataxia (SCA) was Machado-Joseph disease (MJD), SCA1, SCA2 and SCA6. 26374734 2015
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease BEFREE A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. 24486772 2014
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease BEFREE The most common spinocerebellar ataxias (SCA)--SCA1, SCA2, SCA3, and SCA6--are caused by (CAG)n repeat expansion. 24780882 2014
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease BEFREE A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington's disease (11.9%), familial amyloidotic neuropathy (4.3%), SCA1, SCA2, SCA6, or SCA7. 21717286 2012
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease BEFREE Spinocerebellar ataxias 6 and 7 (SCA6 and SCA7) are neurodegenerative disorders caused by expansion of CAG repeats encoding polyglutamine (polyQ) tracts in CACNA1A, the alpha1A subunit of the P/Q-type calcium channel, and ataxin-7 (ATXN7), a component of a chromatin-remodeling complex, respectively. 21078624 2011
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease BEFREE Patients with progressive cerebellar dysfunction of autosomal dominant transmission underwent a clinical examination protocol and genetic testing for spinocerebellar ataxia (SCA)1 to Machado-Joseph disease (MJD)/SCA3, SCA6, SCA7, SCA10, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy (DRPLA). 19659750 2010
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease BEFREE Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar ataxia (SCA6). 20682717 2010
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease BEFREE Two hundred twenty-eight patients with SCA1, SCA2, SCA3, or SCA6, recruited from the EuroSCA natural history study, completed a fall questionnaire that assessed the frequency, consequences, and several details of falls in the previous 12 months. 20157791 2010
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease BEFREE Recent observations suggest that the human episodic ataxia 2 (EA2) and spinocerebellar ataxia types 6 (SCA6), 12 (SCA12), and 14 (SCA14) might be associated with impaired phosphorylation levels of cerebellum calcium channels and receptors. 19488825 2009
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease LHGDN Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. 18413478 2008
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 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
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease BEFREE In Nagano, 16q22-linked ADCA appears to be much more prevalent than either SCA6 or dentatorubral-pallidoluysian atrophy (DRPLA), and may explain the high frequency of spinocerebellar ataxia. 16614795 2006
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease BEFREE Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861 2006
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease LHGDN C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. 16595610 2006
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease LHGDN Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861 2006
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease LHGDN A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan. 15026160 2004
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease BEFREE To identify various subtypes of spinocerebellar ataxias (SCAs) among autosomal dominant cerebellar ataxia (ADCA) patients referred to our research center, SCA1, SCA2, SCA3/MJD (Machado-Joseph disease), SCA6, SCA7, SCA8 and SCA12 loci were assessed for expansion of trinucleotide repeats. 15080863 2004
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 Biomarker disease LHGDN SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. 12545428 2003
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 AlteredExpression disease LHGDN Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6. 12676347 2003
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
0.400 GeneticVariation disease BEFREE We examined six patients with Friedreich's ataxia, three patients with spinocerebellar ataxia (SCA) type 1, seven patients with SCA2, 12 patients with SCA3, nine patients with SCA6 and 14 healthy controls. 11844730 2002