rs28933098
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
|
17336526 |
2007 |
rs104894805
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.
|
15009215 |
2004 |
rs104894805
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.
|
15328537 |
2004 |
rs104894806
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.
|
15009215 |
2004 |
rs104894806
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.
|
15328537 |
2004 |
rs104894805
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?
|
11587540 |
2001 |
rs104894806
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?
|
11587540 |
2001 |
rs104894805
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
|
10323252 |
1999 |
rs104894806
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
|
10323252 |
1999 |
rs104894805
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894806
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28933098
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267606782
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A 46-year-old patient with X-EDMD due to the known splice-site mutation c.449 + 1G>A in the emerin gene experienced palpitations for the first time at the age of 21 years, and a first syncope at the age of 23 years.
|
25502304 |
2015 |
rs267606782
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
|
21697856 |
2011 |
rs267606782
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.
|
19997654 |
2009 |
rs267606782
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
|
7894480 |
1994 |
rs371898076
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.
|
25132132 |
2014 |
rs371898076
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
|
23299917 |
2013 |
rs371898076
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
rs371898076
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.
|
23290139 |
2013 |
rs1557182560
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
rs1557182661
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
|
21697856 |
2011 |
rs876661345
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
|
21697856 |
2011 |
rs876661345
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Limb-girdle muscular dystrophy due to emerin gene mutations.
|
17620497 |
2007 |
rs1557182560
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.
|
15967842 |
2005 |