SELENON, selenoprotein N, 57190

N. diseases: 147; N. variants: 30
Disease: Muscle Rigidity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.030 GeneticVariation phenotype BEFREE • Mutations in SEPN1 cause myopathy characterized by early-onset axial and neck weakness spinal rigidity and respiratory failure. 26780752 2016
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.030 Biomarker phenotype BEFREE Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity and can result in specific pathological entities such as multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and congenital fiber-type disproportion. 20937510 2011
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.030 GeneticVariation phenotype BEFREE Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 11528383 2001