Gene table: search width pubmed_id = 8012359


Grey lines background indicate newly added items
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Malignant hyperthermia susceptibility 1 - (AD)
8.1
1354642
1774074
1862346
1967823
2300206
7849712
8012359
8220423
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD