Gene table: search width pubmed_id = 26247046


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

protein
All allelic disease phenotypes - locus/disease symbols
Congenital myopathy with ophthalmoplegia related to CACNA1S - (AR)
3.54
26247046
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit
* Hypokalemic periodic paralysis - CACNL1A3
* Congenital myopathy with ophthalmoplegia related to CACNA1S
* Malignant hyperthermia susceptibility 5 - MHS5
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1