Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
0.300 Biomarker disease CTD_human Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007