SELENON, selenoprotein N, 57190

N. diseases: 147; N. variants: 30
Disease: Restrictive deficit on pulmonary function testing ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		0.110 GeneticVariation phenotype BEFREE Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 11528383 2001
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