rs121909274, BIN1

N. diseases: 1
Disease: Myopathy, Centronuclear, Autosomal Recessive ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myopathy, Centronuclear, Autosomal Recessive
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
0.800 GeneticVariation UNIPROT A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. 29950440 2018
Myopathy, Centronuclear, Autosomal Recessive
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
0.800 GeneticVariation UNIPROT Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. 24755653 2014
Myopathy, Centronuclear, Autosomal Recessive
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
Myopathy, Centronuclear, Autosomal Recessive
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
0.800 GeneticVariation UNIPROT Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. 20142620 2010
Myopathy, Centronuclear, Autosomal Recessive
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
0.800 GeneticVariation UNIPROT Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007
Myopathy, Centronuclear, Autosomal Recessive
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
0.800 CausalMutation CLINVAR