Gene table: search width pubmed_id = 2300206


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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
* Fetal akinesia deformation sequence related to RYR1
* Dusty core disease related to RYR1 - DuCD
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A
* Congenital myopathy 1B, recessive - CMYP1B
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD