Gene table: search width pubmed_id = 7695228


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD)
13.54
7695228
7757080
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
* Spinocerebellar ataxia 6 - SCA6
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA
* Cerebellar ataxia, pure - CACNA1A
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA
* Episodic ataxia, type 2 - EA2