Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. 15328537

2004
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 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