SECISBP2, SECIS binding protein 2, 79048

N. diseases: 17; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy
0.020 GeneticVariation group BEFREE Mutations in SBP2 impinge on biosynthesis of a subset of selenoproteins and lead to a syndrome including hormonal, neurological, immunological symptoms as well as myopathy. 22708491 2012
CUI: C0026848
Disease: Myopathy
Myopathy
0.020 GeneticVariation group BEFREE Pathologically, reduced expression of selenoproteins has been directly linked with the congenital muscle disease referred to as selenoprotein N (SEPN)-related myopathy and with thyroid-hormone metabolism defects (deficiency of deiodinases due to genetic defects in SBP2). 19905883 2010