RYR1, ryanodine receptor 1, 6261

N. diseases: 320; N. variants: 248
Disease: Skeletal malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795693
Disease: Skeletal malformation
Skeletal malformation 		0.010 Biomarker disease BEFREE A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. 14708096 2004