Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Myopathy, Centronuclear, Autosomal Dominant
0.510 GermlineCausalMutation disease ORPHANET Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. 25260562 2014
Myopathy, Centronuclear, Autosomal Dominant
0.510 GeneticVariation disease BEFREE Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. 25260562 2014
Myopathy, Centronuclear, Autosomal Dominant
0.510 Biomarker disease CTD_human Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007