rs121909273
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs121909274
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs1249621033
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs777176261
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs777176261
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs121909273
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs121909274
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs267606681
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs777176261
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs10207628
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation |
GWASDB |
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
|
22005930 |
2012 |
rs10207628
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Alzheimer's Disease
|
|
0.800 |
GeneticVariation |
GWASCAT |
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
|
22005930 |
2012 |
rs121909273
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs121909274
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs1249621033
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs267606681
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs777176261
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs121909273
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.
|
20142620 |
2010 |
rs121909274
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.
|
20142620 |
2010 |
rs267606681
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.
|
20142620 |
2010 |
rs777176261
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.
|
20142620 |
2010 |
rs121909273
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs121909274
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs777176261
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
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 |
rs121909273
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909274
|
Entrez Id: |
274 |
Gene Symbol: |
BIN1 |
BIN1
|
Myopathy, Centronuclear, Autosomal Recessive
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|