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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. 23553484

2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genotype-phenotype correlations in recessive RYR1-related myopathies. 23919265

2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Genotype-phenotype correlations in recessive RYR1-related myopathies. 23919265

2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. 23553484

2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. 20583297

2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR RYR1 mutations are a common cause of congenital myopathies with central nuclei. 20839240

2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. 20583297

2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR RYR1 mutations are a common cause of congenital myopathies with central nuclei. 20839240

2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 18765655

2008
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 18765655

2008
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in RYR1 in malignant hyperthermia and central core disease. 16917943

2006
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in RYR1 in malignant hyperthermia and central core disease. 16917943

2006
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. 16380615

2005
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 16163667

2005
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. 16380615

2005
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 16163667

2005
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. 9199552

1997
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. 9199552

1997
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 8661021

1996
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 8661021

1996
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Anesthetic-induced malignant hyperpyrexia in children. 4149045

1973
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Anesthetic-induced malignant hyperpyrexia in children. 4149045

1973