Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.110 GeneticVariation disease BEFREE This highlights the potential for RYR1 pathogenic variants to produce pathological findings most consistent with congenital muscular dystrophy. 30715496 2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.110 GeneticVariation disease CLINVAR