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: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1.000 Biomarker disease CTD_human
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.750 GeneticVariation disease CLINVAR
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.750 Biomarker disease CTD_human
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.480 Biomarker disease HPO
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.300 Biomarker disease CTD_human
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.300 Biomarker disease CTD_human
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.300 Biomarker disease CTD_human
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		0.300 Biomarker disease CTD_human
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		0.300 Biomarker disease CTD_human
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		0.300 Biomarker disease CTD_human
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		0.300 Biomarker disease CTD_human
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.300 Biomarker disease CTD_human
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group CLINVAR
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 Biomarker group HPO
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.150 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.120 GeneticVariation disease CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.120 Biomarker disease HPO
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		0.110 GeneticVariation phenotype CLINVAR
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		0.110 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO