SELENON, selenoprotein N, 57190

N. diseases: 147; N. variants: 30
Disease: Paresis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030552
Disease: Paresis
Paresis 		0.020 Biomarker phenotype BEFREE These findings suggest that the absence of SELENON together with a high-fat dietary regimen increases susceptibility to insulin resistance by triggering a chronic ER stress in skeletal muscle and muscle weakness. 30921636 2019
CUI: C0030552
Disease: Paresis
Paresis 		0.020 GeneticVariation phenotype BEFREE We sequenced SEPN1 in five unrelated CFTD patients with scoliosis and respiratory muscle weakness and screened an additional 22 CFTD patients for abnormalities in SEPN1 by Western blotting and restriction digest for the 943G-->A mutation. 16365872 2006