BIN1, bridging integrator 1, 274

N. diseases: 163; N. variants: 24
Disease: X-linked centronuclear myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.310 GeneticVariation disease BEFREE Necklace fibers were seen neither in DNM2- or BIN1-related CNM nor in males with classical XLMTM. 19084976 2009
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.310 Biomarker disease CTD_human Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007