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 AlteredExpression BEFREE Here, we studied the cerebellar gene expression patterns of young Sca6-MPI(118Q/118Q) knockin (KI) mice, which expressed mutant Cav2.1 from an endogenous locus and recapitulated many phenotypic features of human SCA6. 26034136

2016

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

2016

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Expansion of the CAG/polyQ region of CACNA1A occurs within α1ACT and leads to ataxia.There are few animal models of SCA6. 25954029

2016

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

2015

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE One family with spinocerebellar ataxia type 6 and 2 families with other CACNA1A gene mutations were identified. 24898624

2015

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Mutations in the CACNA1A gene, encoding the α1 subunit of the voltage-gated calcium channel Ca(V)2.1 (P/Q-type), have been associated with three neurological phenotypes: familial and sporadic hemiplegic migraine type 1 (FHM1, SHM1), episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 (SCA6). 24836863

2015

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 BEFREE Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are distinct neurological disorders associated with mutations in the CACNA1A gene. 25266619

2015

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are allelic disorders of the gene CACNA1A encoding the P/Q subunit of a voltage gated calcium channel. 24486772

2014

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 GeneticVariation BEFREE 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 Suppression of CACNA1A IRES function in SCA6 may be a potential therapeutic strategy. 23827678

2013

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker BEFREE Spinocerebellar ataxia type 6 (SCA6) is an inherited neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the Ca(V)2.1 voltage-gated calcium channel subunit (CACNA1A). 21550405

2012

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 GeneticVariation BEFREE Mutations in the 1A-subunit of the brain P/Q-type calcium channel gene CACNA1A are responsible for spinocerebellar ataxia type 6 (SCA6), familial haemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). 19182766

2011

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Mutations in the CACNA1A gene that encodes the pore-forming alpha1 subunit of human voltage-gated CaV2.1 (P/Q-type) Ca2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). 20204399

2010

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 GeneticVariation BEFREE CACNA1A mutations are responsible for Familial Hemiplegic Migraine (FHM) type 1, Episodic Ataxia (EA) type 2 and Spinocerebellar Ataxia type 6. 18976783

2009

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE These findings demonstrate phenotypic overlap between SCA6 and episodic ataxia type 2, which are both due to mutations in CACNL1A4. 19224313

2009

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker BEFREE In view of the known role of p62 in protein degradation as well as aggresome/sequestosome formation, the p62 aggregate formation observed in the present study suggests that SCA6 not only is associated with an impairment of the calcium channel function and an elongated polyglutamine stretch in CACNA1A, but also with a defective protein handling by the protein quality control system. 19788049

2009

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Mutations in CACNA1A were previously described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. 18940563

2008

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 Biomarker BEFREE The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: 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 DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin. 17961920

2008

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

2008