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: 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: 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: 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 Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715 1996
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 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 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 UNIPROT 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 CausalMutation disease 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 		0.800 Biomarker disease BEFREE The product of the X-linked Emery-Dreifuss muscular dystrophy gene is a single-membrane-spanning protein called emerin, which is localized to the inner nuclear membrane of all tissues studied. 10393813 1999