Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.800 CausalMutation CLINVAR Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 22473935

2012
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.800 CausalMutation CLINVAR Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. 21911697

2011
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.800 CausalMutation CLINVAR Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 20080402

2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.800 CausalMutation CLINVAR Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 17483490

2007
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.800 GeneticVariation CLINVAR