RPL3, ribosomal protein L3, 6122

N. diseases: 26; N. variants: 3
Disease: Congenital myopathy (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.010 GeneticVariation group 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