RNR1, s-rRNA, 4549

N. diseases: 75; N. variants: 2
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group CTD_human Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene. 12031626 2002
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group HPO