RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192174
rs118192174
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease:
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146 2012
dbSNP: rs118192174
rs118192174
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease:
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		A 0.800 CausalMutation CLINVAR