Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.750 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.750 CausalMutation CLINVAR The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 17951086

2008
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.750 CausalMutation CLINVAR CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1. 16365872

2006
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.750 CausalMutation CLINVAR Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.750 CausalMutation CLINVAR 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
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.750 GeneticVariation CLINVAR