BIN1, bridging integrator 1, 274

N. diseases: 163; N. variants: 24
Disease: Myopathy, Centronuclear, Autosomal Recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909273
rs121909273
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs121909274
rs121909274
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs1249621033
rs1249621033
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. 29950440 2018
dbSNP: rs777176261
rs777176261
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs777176261
rs777176261
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. 29950440 2018
dbSNP: rs121909273
rs121909273
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs121909274
rs121909274
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs267606681
rs267606681
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. 24755653 2014
dbSNP: rs777176261
rs777176261
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs121909273
rs121909273
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs121909274
rs121909274
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs1249621033
rs1249621033
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs267606681
rs267606681
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs777176261
rs777176261
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs121909273
rs121909273
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs121909274
rs121909274
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs267606681
rs267606681
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. 20142620 2010
dbSNP: rs777176261
rs777176261
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs121909273
rs121909273
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs121909274
rs121909274
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs777176261
rs777176261
Entrez Id: 274
Gene Symbol: BIN1
BIN1
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
dbSNP: rs121909273
rs121909273
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909274
rs121909274
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1249621033
rs1249621033
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606681
rs267606681
Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0410204
Disease:
Myopathy, Centronuclear, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR