MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
Disease: Myopathy, Centronuclear, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		0.010 GeneticVariation disease BEFREE Mutations in dynamin 2 (DNM2) have been associated with autosomal dominant centronuclear myopathy, dominant intermediate Charcot-Marie-Tooth (CMT) type B and CMT2. 18394888 2008