Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894805
rs104894805
EMD
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
dbSNP: rs104894805
rs104894805
EMD
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894805
rs104894805
EMD
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
dbSNP: rs104894805
rs104894805
EMD
0.800 GeneticVariation UNIPROT How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy? 11587540

2001
dbSNP: rs104894805
rs104894805
EMD
0.800 GeneticVariation UNIPROT Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 10323252

1999
dbSNP: rs104894806
rs104894806
EMD
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894806
rs104894806
EMD
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
dbSNP: rs104894806
rs104894806
EMD
0.800 GeneticVariation UNIPROT Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 10323252

1999
dbSNP: rs104894806
rs104894806
EMD
0.800 GeneticVariation UNIPROT How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy? 11587540

2001
dbSNP: rs104894806
rs104894806
EMD
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
dbSNP: rs267606782
rs267606782
EMD
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
dbSNP: rs267606782
rs267606782
EMD
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
dbSNP: rs267606782
rs267606782
EMD
G 0.710 CausalMutation CLINVAR Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. 19997654

2009
dbSNP: rs267606782
rs267606782
EMD
G 0.710 CausalMutation CLINVAR Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 7894480

1994
dbSNP: rs1060502612
rs1060502612
EMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs132630262
rs132630262
EMD
T 0.700 CausalMutation CLINVAR

dbSNP: rs1557182214
rs1557182214
EMD
T 0.700 CausalMutation CLINVAR SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. 8595433

1995
dbSNP: rs1557182301
rs1557182301
EMD
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1557182364
rs1557182364
EMD
GAT 0.700 CausalMutation CLINVAR

dbSNP: rs1557182560
rs1557182560
EMD
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
dbSNP: rs1557182560
rs1557182560
EMD
T 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182560
rs1557182560
EMD
T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs1557182611
rs1557182611
EMD
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
dbSNP: rs1557182611
rs1557182611
EMD
T 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182654
rs1557182654
EMD
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