RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Disease: Central Core Myopathy (disorder) ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192130
rs118192130
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		A 0.800 GeneticVariation CLINVAR A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy. 25747005 2015
dbSNP: rs118192130
rs118192130
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146 2012
dbSNP: rs118192130
rs118192130
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361 2012
dbSNP: rs118192130
rs118192130
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		A 0.800 GeneticVariation CLINVAR Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 18253926 2008
dbSNP: rs118192130
rs118192130
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		A 0.800 GeneticVariation CLINVAR Central core disease due to recessive mutations in RYR1 gene: is it more common than described? 17226826 2007
dbSNP: rs118192130
rs118192130
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		A 0.800 CausalMutation CLINVAR