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 Biomarker GENOMICS_ENGLAND A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. 21734179

2011

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

2010

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

2010

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 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 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 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

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 Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. 18949263

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

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 Biomarker BEFREE Spinocerebellar ataxia type 6 (SCA 6) is caused by an abnormal expansion of a CAG repeat in CACNA1A, which encodes the alpha 1A subunit. 17489948

2007

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker GENOMICS_ENGLAND Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). 17292920

2007

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 Biomarker GENOMICS_ENGLAND Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007

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

2007

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by abnormal expansions of a trinucleotide CAG repeat in exon 47 of the CACNA1A gene, which encodes the alpha1A subunit of the P/Q-type voltage-gated calcium channel. 17395139

2007

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker BEFREE Bovine CACNA1A gene and comparative analysis of the CAG repeats associated to human spinocerebellar ataxia type-6. 16876337

2006

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 Biomarker BEFREE Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6. 15474358

2004

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Microsatellite analysis of the CACNA1A gene indicated a founder effect for SCA6 within this region. 15122720

2004

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q. 14526175

2003

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6. 12707077

2003

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Spinocerebellar ataxia type 6 (SCA6) is due to small expansions of a CAG repeat at the 3' end of the CACNA1A gene, coding for the alpha(1A) subunit of voltage-gated calcium channels type P/Q, expressed in the cerebellar Purkinje and granule cells. 11719255

2002