RYR1, ryanodine receptor 1, 6261

N. diseases: 34; N. variants: 121
Disease: Rhabdomyolysis ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.110 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017