Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 GeneticVariation UNIPROT A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

2009
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 GeneticVariation UNIPROT Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863

2008
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 GeneticVariation UNIPROT Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 GeneticVariation UNIPROT Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 15122708

2004
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 GeneticVariation UNIPROT On the basis of clinical and morphological data, we suspected a relationship between classical MmD and the selenoprotein N gene (SEPN1), which is located on chromosome 1p36 (RSMD1 locus) and is responsible for the congenital muscular dystrophy with rigid spine syndrome (RSMD). 12192640

2002
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 GeneticVariation UNIPROT A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref.1). 11528383

2001