Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.020 GeneticVariation phenotype BEFREE This individual carrying the RYR1 frameshifting mutation complained of mild muscle weakness and fatigability. 30689883 2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.020 Biomarker phenotype BEFREE Therefore, the purpose of our study is to objectively assess disease progression and fatigability in RYR1-RM affected individuals using the 6MWT. 29970108 2018