EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Disease: Neuromuscular Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 GeneticVariation group CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565 2007
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. 17355552 2007
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 GeneticVariation group BEFREE Several neuromuscular diseases are caused by mutations in emerin and A-type lamins, proteins of the nuclear envelope. 12661041 2003
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. 10220866 1999
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 10382909 1999
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Mutation analysis in Emery-Dreifuss muscular dystrophy. 10428430 1999
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 GeneticVariation group BEFREE Together with mutations in EMD (refs 5,6), they underscore the potential importance of the nuclear envelope components in the pathogenesis of neuromuscular disorders. 10080180 1999
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 GeneticVariation group CLINVAR Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 8595407 1995
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 8595407 1995
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. 8595406 1995
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. 1998333 1991
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. 7294729 1981
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation group CLINVAR Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. 1178008 1975