EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894805
rs104894805
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs104894805
rs104894805
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs104894806
rs104894806
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs104894806
rs104894806
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs104894805
rs104894805
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs104894806
rs104894806
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs104894805
rs104894805
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs104894806
rs104894806
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs104894805
rs104894805
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
X-Linked Emery-Dreifuss Muscular Dystrophy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894806
rs104894806
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
X-Linked Emery-Dreifuss Muscular Dystrophy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606782
rs267606782
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs267606782
rs267606782
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs267606782
rs267606782
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
X-Linked Emery-Dreifuss Muscular Dystrophy 		G 0.710 CausalMutation CLINVAR Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. 19997654 2009
dbSNP: rs267606782
rs267606782
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs1557182560
rs1557182560
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
X-Linked Emery-Dreifuss Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
dbSNP: rs1557182661
rs1557182661
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs876661345
rs876661345
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs727504901
rs727504901
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease:
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
dbSNP: rs730880352
rs730880352
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease:
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
dbSNP: rs876661345
rs876661345
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
X-Linked Emery-Dreifuss Muscular Dystrophy 		GC 0.700 CausalMutation CLINVAR Limb-girdle muscular dystrophy due to emerin gene mutations. 17620497 2007
dbSNP: rs1557182560
rs1557182560
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs1557182611
rs1557182611
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs1557182654
rs1557182654
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs1557182661
rs1557182661
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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
dbSNP: rs1557182670
rs1557182670
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease:
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