SELENON, selenoprotein N, 57190

N. diseases: 147; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 GeneticVariation disease BEFREE We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. 30642275 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 Biomarker disease CTD_human Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo. 17123513 2007
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 GeneticVariation disease BEFREE Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 16779558 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 GeneticVariation disease BEFREE Here, we report the first mutation in the selenocysteine insertion sequence (SECIS) of SelN messenger RNA, a hairpin structure located in the 3' untranslated region, in a patient presenting a classical although mild form of rigid spine muscular dystrophy. 16498447 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 Biomarker disease BEFREE Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine. 16900928 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 GeneticVariation disease LHGDN Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457 2005
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 GeneticVariation disease BEFREE Mutations in SEPN1 have been associated with three autosomal recessive congenital myopathies, including rigid spine muscular dystrophy, multiminicore disease and desmin-related myopathy with Mallory body-like inclusions. 15792869 2005
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 GeneticVariation disease BEFREE Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. 15122708 2004
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 GeneticVariation disease LHGDN Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. 12192640 2002
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.480 Biomarker disease HPO