Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation CLINVAR Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. 21697856

2011
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation CLINVAR Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. 19997654

2009
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation CLINVAR Limb-girdle muscular dystrophy due to emerin gene mutations. 17620497

2007
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 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
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation CLINVAR Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 10382909

1999
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation CLINVAR Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. 9195226

1997
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation CLINVAR Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 8595407

1995
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 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
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 CausalMutation CLINVAR Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 7894480

1994
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 GeneticVariation CLINVAR