×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
23553484
2013
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Dysmorphic features
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
Dysmorphic features
0.100
CausalMutation
CLINVAR
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
23553484
2013
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Genotype-phenotype correlations in recessive RYR1-related myopathies.
23919265
2013
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Genotype-phenotype correlations in recessive RYR1-related myopathies.
23919265
2013
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
0.100
CausalMutation
CLINVAR
Mutations in RYR1 in malignant hyperthermia and central core disease.
16917943
2006
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Mutations in RYR1 in malignant hyperthermia and central core disease.
16917943
2006
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
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
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Anesthetic-induced malignant hyperpyrexia in children.
4149045
1973
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Anesthetic-induced malignant hyperpyrexia in children.
4149045
1973