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 CausalMutation CLINVAR

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

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 BEFREE 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 Biomarker BEFREE 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

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

1997

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

1997

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker BEFREE Analysis of CAG-repeat expansion in the alpha1A-voltage-dependent calcium channel (CACNL1A4) gene lying in 19p13.1, recently identified among 8 small American kindreds with ADPCA (spinocerebellar ataxia type 6 [SCA6]), revealed that 8 of the 15 families studied had similar, very small expansion in this gene: all affected individuals had larger alleles (range of CAG repeats 21-25), compared with alleles observed in neurologically normal Japanese (range 5-20 repeats). 9311738

1997

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 BEFREE Spinocerebellar ataxia type 6 (SCA6) was recently identified as a form of autosomal dominant cerebellar ataxia associated with small expansions of the trinucleotide repeat (CAG)n in the gene CACNL1A4 on chromosome 19p13, which encodes the alpha1 subunit of a P/Q-type voltage-gated calcium channel. 9403487

1997

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE We describe the MRI findings in three Japanese patients with spinocerebellar ataxia type 6 (SCA6) in which a polymorphic CAG repeat was identified in the gene encoding the alpha 1A voltage-dependent P/Q-type Ca2+ channel subunit (CACNL1A4). 9592791

1998

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker BEFREE Recently, different types of mutation in the brain-specific P/Q type calcium channel alpha 1A subunit gene (CACNA1A) on chromosome 19p13 were shown to be involved in three human disorders: familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA2), and chronic spinocerebellar ataxia type 6 (SCA6). 9781035

1998

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6). 9849799

1998

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant spinocerebellar degenerative disease caused by CAG repeat expansions in the human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4). 9879686

1998

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Different CACNA1A mutations have been identified in other autosomal dominant conditions: mutations leading to a truncated protein in episodic ataxia type 2 (EA2), small expansions of a CAG trinucleotide in spinocerebellar ataxia type 6 and also in three families with EA2 features, and, finally, a missense mutation in a single family suffering from episodic ataxia and severe progressive PCA. 9915947

1999

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE The molecular findings in this large family confirm the expansion of the CAG repeat in the CACNA1A gene as the cause of SCA6 and the high meiotic stability of the repeat. 10051016

1999

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker BEFREE The present study indicates that the mechanism of neurodegeneration in SCA6 is associated with cytoplasmic aggregations of the [alpha]1A calcium channel protein caused by a small CAG repeat/polyglutamine expansion in CACNA1A. 10369863

1999

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Interestingly, distinct types of CACNA1A mutations have been identified in familial hemiplegic migraine (missense mutations) and spinocerebellar ataxia type 6 (SCA-6) progressive cerebellar ataxia (expanded CAG repeats). 10371528

1999

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker BEFREE We herein report the findings of an autopsy case of spinocerebellar ataxia type 6 (SCA6) which revealed a mild CAG-repeat expansion in the alpha1A voltage-dependent calcium channel (CACNL1A4) gene on chromosome 19p13. 10442462

1999

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Thirteen patients with SCA6 were detected to have elongated CAG in CACNL1A4. 10601803

2000

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE They were genetically analysed as two spinocerebellar ataxia type 6 (SCA 6), one SCA 1, and one SCA 7. 10674722

1999

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker BEFREE Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes. 10945665

2000

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Mutations in the brain specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, viz. episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 (SCA6). 10987655

1999

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE Familial hemiplegic migraine, episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 are allelic disorders of the CACNA1A gene (coding for the alpha(1A) subunit of P/Q calcium channels), usually associated with different types of mutations (missense, protein truncating, and expansion, respectively). 11179022

2001

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation BEFREE By means of transient linear acceleration of the whole body along the interaural axis, we examined the LVOR in six patients with hereditary cerebellar ataxia due to mutations of the calcium channel gene CACNA1A, five with spinocerebellar ataxia type 6 (SCA6) and one with episodic ataxia type 2 (EA-2). 11701595

2001