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: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 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: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 CausalMutation CLINVAR SEPN1-related myopathies: clinical course in a large cohort of patients. 21670436

2011
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 GeneticVariation CLINVAR SEPN1-related myopathies: clinical course in a large cohort of patients. 21670436

2011
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 GeneticVariation CLINVAR Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. 21131290

2011
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 GeneticVariation CLINVAR 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 CausalMutation CLINVAR 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 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: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 16365872

2006
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 CausalMutation CLINVAR Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 16779558

2006
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 CausalMutation CLINVAR Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 15792869

2005
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR 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: 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

Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation CLINVAR

Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.120 GeneticVariation CLINVAR

Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		0.110 GeneticVariation CLINVAR

Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		0.100 GeneticVariation CLINVAR

Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 GeneticVariation CLINVAR