RYR1, ryanodine receptor 1, 6261

N. diseases: 320; N. variants: 248
Disease: Native American myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850625
Disease: Native American myopathy
Native American myopathy 		0.010 Biomarker disease BEFREE Stac3 protein (SH3 and cysteine-rich domain 3) is an essential component of the EC coupling apparatus and a mutation in human STAC3 causes the debilitating Native American myopathy (NAM), but the nature of how Stac3 acts on the DHPR and/or RyR1 is unknown. 28003463 2017