BIN1, bridging integrator 1, 274

N. diseases: 163; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 Biomarker disease BEFREE Here, we investigated the functional relationship between MTM1 and BIN1 in healthy skeletal muscle and in the physiopathology of CNM. 30894500 2019
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 Biomarker disease BEFREE Our data suggest that DNM2 modulation has potential as a therapeutic approach for patients with CNM and BIN1 defects. 29130937 2017
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 GeneticVariation disease BEFREE Three CNM-causing genes have been identified, with MTM1 mutations provoking X-linked myotubular myopathy, DNM2 mutations provoking autosomal dominant (AD) CNM, and BIN1 mutations provoking autosomal recessive (AR) CNM. 23938035 2014
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 GeneticVariation disease BEFREE Three mutations, K35N, D151N and R154Q, have been discovered so far in the BAR domain of BIN1 in patients with centronuclear myopathy (CNM), where impaired organization of T-tubules has been reported. 24755653 2014
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 Biomarker disease BEFREE Mis-splicing of amphiphysin-2/BIN1 is also associated with myotonic dystrophy that shares histopathological hallmarks with CNM. 25262827 2014
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 Biomarker disease BEFREE In conclusion, we identified BIN1 as the second gene for dominant centronuclear myopathy. 25260562 2014
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 GeneticVariation disease BEFREE In this study we identified and characterized the first mutation affecting the splicing of the muscle-specific BIN1 exon 11 in a consanguineous family with rapidly progressive and ultimately fatal centronuclear myopathy. 23754947 2013
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 GeneticVariation disease BEFREE Mutations in the BIN1 gene cause centronuclear myopathy, which shares some histopathological features with myotonic dystrophy. 21623381 2011
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 Biomarker disease BEFREE We propose that aberrant BIN1 localization and defects in triad structure are part of a common pathogenetic mechanism shared between the three forms of centronuclear myopathies. 20927630 2011
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 Biomarker disease BEFREE In addition to skeletal muscle defects, both patients have mild mental retardation and the more severely affected male also displays abnormal ventilation and cardiac arrhythmia, thus expanding the phenotypic spectrum of BIN1-related CNM to non skeletal muscle defects. 21129173 2010
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 GeneticVariation disease BEFREE Necklace fibers were seen neither in DNM2- or BIN1-related CNM nor in males with classical XLMTM. 19084976 2009
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 GeneticVariation disease BEFREE Our results suggest that mutations in BIN1 cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the functional interaction between BIN1 and DNM2 is necessary for normal muscle function and positioning of nuclei. 17676042 2007
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
0.400 Biomarker disease CTD_human Our results suggest that mutations in BIN1 cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the functional interaction between BIN1 and DNM2 is necessary for normal muscle function and positioning of nuclei. 17676042 2007