SELENON, selenoprotein N, 57190

N. diseases: 147; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		A 0.810 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784 2013
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		A 0.810 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784 2013
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.810 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.810 GeneticVariation UNIPROT A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361 2009
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		A 0.810 CausalMutation CLINVAR A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361 2009
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		A 0.810 CausalMutation CLINVAR The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 17951086 2008
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.810 GeneticVariation UNIPROT Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863 2008
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		A 0.810 CausalMutation CLINVAR The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 17951086 2008
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		0.810 GeneticVariation UNIPROT Two sisters with CFTD were homozygous for the 943G-->A SEPN1 mutation and had clinical features typical of previously reported patients with SEPN1-related myopathy. 16365872 2006
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		0.810 GeneticVariation BEFREE Two sisters with CFTD were homozygous for the 943G-->A SEPN1 mutation and had clinical features typical of previously reported patients with SEPN1-related myopathy. 16365872 2006
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		A 0.810 CausalMutation CLINVAR SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 16365872 2006
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		A 0.810 CausalMutation CLINVAR Two sisters with CFTD were homozygous for the 943G-->A SEPN1 mutation and had clinical features typical of previously reported patients with SEPN1-related myopathy. 16365872 2006
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.810 GeneticVariation BEFREE Two sisters with CFTD were homozygous for the 943G-->A SEPN1 mutation and had clinical features typical of previously reported patients with SEPN1-related myopathy. 16365872 2006
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		A 0.810 CausalMutation CLINVAR Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457 2005
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		A 0.810 CausalMutation CLINVAR Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457 2005
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.810 GeneticVariation UNIPROT Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457 2005
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.810 GeneticVariation UNIPROT Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 15122708 2004
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		A 0.810 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
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.810 GeneticVariation UNIPROT 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
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		A 0.810 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
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.810 GeneticVariation UNIPROT Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 11528383 2001
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		A 0.810 GeneticVariation CLINVAR
dbSNP: rs121908188
rs121908188
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		A 0.810 GeneticVariation CLINVAR
dbSNP: rs121908182
rs121908182
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs121908186
rs121908186
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0410180
Disease:
Eichsfeld type congenital muscular dystrophy 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010