RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Disease: Tubular Aggregate Myopathy ×
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 14 4 0.300 None 1.000 1 2007 2007