RPL3, ribosomal protein L3, 6122

N. diseases: 26; N. variants: 3
Disease: Spinal Muscular Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.020 Biomarker disease BEFREE Recently, the ASC-1 complex has been identified as a mechanistic link between ALS and spinal muscular atrophy (SMA), and three mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. 31794073 2020
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.020 Biomarker disease BEFREE We conclude that ALS and SMA are more intimately tied to one another than previously thought, being linked via the ASC-1 complex. 30398641 2018