Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation UNIPROT Progressive ataxia due to a missense mutation in a calcium-channel gene. 9345107

1997

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation UNIPROT Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170

1997

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation UNIPROT 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

2015

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation UNIPROT Mutations in the brain-specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine type 1 (FHM1). 16325861

2006

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation UNIPROT Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 9302278

1998

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker MGD Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6. 23054835

2012

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker CTD_human Efficacy and tolerability of acetazolamide in migraine prophylaxis: a randomised placebo-controlled trial. 11985388

2002

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker CTD_human Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar degeneration that shares neuropathological findings with late-onset cortical cerebellar atrophy (CCA). 16899342

2007

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. 12707077

2003

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR The disease-causing mutation in this family was identified, showing that a unique mutation in the CACNA1A gene causes several phenotypes, including those of SCA6 and FHM, thus suggesting that SCA6 and FHM are not only allelic diseases but are the same disorder with a large phenotypic variability. 12707077

2003

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170

1997

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by the expansion of the polymorphic CAG repeat in the human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4 gene). 9259274

1997

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. 23827678

2013

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6). 9498057

1998

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. 16595610

2006

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome? 18285829

2008

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Missense CACNA1A mutation causing episodic ataxia type 2. 11176968

2001

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Deficit of heat shock transcription factor 1-heat shock 70 kDa protein 1A axis determines the cell death vulnerability in a model of spinocerebellar ataxia type 6. 19817876

2010

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Most importantly, the trinucleotide expansion was observed in four ataxia patients without obvious family history of the disease which necessitates a search for the SCA6 (CAG)n expansion even in sporadic patients. 9259275

1997

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Different mutations in the alpha 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). 12707077

2003

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Spinocerebellar ataxia type 6 (SCA6) is a common cause of dominantly inherited ataxia due to an expansion of the CAG repeat in the CACNA1A gene. 18285829

2008

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR The SCA6 (CAG)n expansion was identified in 32 patients most frequently with late manifestation of the disease. 9259275

1997

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. 15985579

2006

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 CausalMutation CLINVAR Analyzing 248 apparently healthy octogenerians revealed one allele of 18 repeats which is the longest normal CAG repeat in the CACNL1A4 gene reported. 9259275

1997