RPL3, ribosomal protein L3, 6122

N. diseases: 26; N. variants: 3
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 Biomarker group BEFREE Our results expand the phenotypical and molecular spectrum of TRIP4-associated disease to include mild adult forms with or without cardiomyopathy, associate ASC-1 depletion with primary pure muscle involvement and establish TRIP4 as a causative gene for several congenital muscle diseases including nemaline, core, centronuclear or cytoplasmic-body myopathies. 31794073 2020
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 Biomarker group BEFREE The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. 27008887 2016