TNPO3, transportin 3, 23534

N. diseases: 66; N. variants: 25
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.110 GeneticVariation disease BEFREE Our results demonstrate that the TNPO3 mutation is the cause of limb-girdle muscular dystrophy 1F, expand our knowledge of the molecular basis of muscular dystrophies and bolster the importance of defects of nuclear envelope proteins as causes of inherited myopathies. 23543484 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.110 GeneticVariation disease CLINVAR
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.110 Biomarker disease HPO