AMPH, amphiphysin, 273

N. diseases: 47; N. variants: 2
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.030 GeneticVariation group BEFREE Nucleus positioning is key for intracellular organization, cell differentiation, and organ development and is affected in many diseases, including myopathies due to alteration in amphiphysin-2 (BIN1). 26506308 2015
CUI: C0026848
Disease: Myopathy
Myopathy 		0.030 GeneticVariation group BEFREE The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2) and amphiphysin 2/BIN1 (AMPH2) cause milder forms of myopathy. 24569368 2014
CUI: C0026848
Disease: Myopathy
Myopathy 		0.030 Biomarker group BEFREE However, the muscle-specific function of amphiphysin 2 and its pathogenicity in both muscle disorders are not well understood. 23754947 2013