rs104894805
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
0.800
GeneticVariation
UNIPROT
How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?
11587540
2001
rs104894806
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
0.800
GeneticVariation
UNIPROT
How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?
11587540
2001
rs104894805
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
A
0.800
CausalMutation
CLINVAR
rs104894806
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
A
0.800
CausalMutation
CLINVAR
rs267606782
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
G
0.710
CausalMutation
CLINVAR
Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.
19997654
2009
rs267606782
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
G
0.710
CausalMutation
CLINVAR
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
7894480
1994
rs1557182560
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
T
0.700
CausalMutation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
rs1557182661
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
rs727504901
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
Neuromuscular Diseases
G
0.700
GeneticVariation
CLINVAR
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
18646565
2007
rs730880352
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
Neuromuscular Diseases
GGGGCT
0.700
CausalMutation
CLINVAR
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.
17355552
2007
rs876661345
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
GC
0.700
CausalMutation
CLINVAR
Limb-girdle muscular dystrophy due to emerin gene mutations.
17620497
2007
rs1557182560
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
rs1557182611
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
rs1557182654
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
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
rs1557182661
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
A
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
rs1557182670
×
Entrez Id:
2010
Gene Symbol:
EMD
EMD
X-Linked Emery-Dreifuss Muscular Dystrophy
C
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