Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.440 GeneticVariation disease BEFREE Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. 30406384 2018
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.440 GeneticVariation disease BEFREE Pathogenic variants in ryanodine receptor 1 (<i>RYR1,</i> MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. 28547000 2017
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.440 GeneticVariation disease BEFREE Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1, SEPN1, RYR1 and TPM3 genes. 20951040 2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.440 GeneticVariation disease BEFREE Recessive mutations in RYR1 are a relatively common cause of CFTD and can be associated with extreme fiber size disproportion. 20583297 2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.440 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.440 CausalMutation disease CLINVAR
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.440 GeneticVariation disease CLINVAR