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
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
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: rs28933098
rs28933098
MYH7 ; MHRT
0.800 GeneticVariation UNIPROT MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 17336526

2007
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: rs1569552076
rs1569552076
EMD
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516171
rs397516171
MYH7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397516264
rs397516264
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727504753
rs727504753
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730880761
rs730880761
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863224900
rs863224900
MYH7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs104894805
rs104894805
EMD
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894806
rs104894806
EMD
A 0.800 CausalMutation CLINVAR

dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
A 0.800 CausalMutation CLINVAR

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
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: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR

dbSNP: rs132630262
rs132630262
EMD
T 0.700 CausalMutation CLINVAR