Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 GermlineCausalMutation disease ORPHANET
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 Biomarker disease CTD_human
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.700 Biomarker disease CTD_human
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43 		0.300 Biomarker disease CTD_human
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2 		0.300 Biomarker disease CTD_human
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		0.300 Biomarker disease CTD_human
Entrez Id: 2273
Gene Symbol: FHL1
FHL1 		0.300 GermlineCausalMutation disease ORPHANET
Entrez Id: 6768
Gene Symbol: ST14
ST14 		0.010 GeneticVariation disease BEFREE There is a suggestion of linkage between EDMD and the loci DXS52 and DXS15, defined by probes St14 and DX13 respectively, located at Xq28.Z for DXS15 = 1.14 at theta = 0.15. 3466853 1986
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		0.010 GeneticVariation disease BEFREE Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene. 1686773 1991
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 CausalMutation disease CLINVAR Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 7894480 1994
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715 1996
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 GeneticVariation disease BEFREE Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. 9195226 1997
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 CausalMutation disease CLINVAR Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. 9195226 1997
Entrez Id: 2656
Gene Symbol: GCY
GCY 		0.030 GeneticVariation disease BEFREE Mutations in the emerin gene, also referred to as the STA- or EMD-gene, have been found to be the cause of X-linked Emery-Dreifuss muscular dystrophy (EMD). 9195226 1997
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 Biomarker disease BEFREE The product of the X-linked Emery-Dreifuss muscular dystrophy gene is a protein called emerin, which is localized to the nuclear membrane. 9472006 1998
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 Biomarker disease BEFREE Emerin is a nuclear membrane protein which is affected by mutation in X-linked Emery-Dreifuss muscular dystrophy. 9731189 1998
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 Biomarker disease BEFREE These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death. 10480214 1999
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 Biomarker disease BEFREE Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 10323252 1999
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 GeneticVariation disease BEFREE X-linked Emery-Dreifuss muscular dystrophy (EMD) is caused by mutations in the emerin gene. 10399752 1999
Entrez Id: 2010
Gene Symbol: EMD
EMD 		0.800 GeneticVariation disease BEFREE Mutations of the emerin gene have been associated with X-linked Emery-Dreifuss muscular dystrophy clinically defined by early joint contractures, progressive muscle weakness, and cardiomyopathy. 10533281 1999