×
Entrez Id:
6901
Gene Symbol:
TAZ
TAZ
0.010
GeneticVariation
disease
BEFREE
NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy .
23345479
2013
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
29581631
2017
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
X-linked dilated cardiomyopathy is a pure cardiac dystrophinopathy phenotype mainly caused by DMD mutations that present a specific transcription effect in cardiac tissue.
22092019
2012
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
X-linked dilated cardiomyopathy and the dystrophin gene.
10407857
1999
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
21396098
2011
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
19409785
2009
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
CLINVAR
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
19602481
2009
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
Dystrophin localizes at the X chromosome, whose mutations might result in Duchenne muscular dystrophy, Becker muscular dystrophy and X-linked dilated cardiomyopathy .
18562127
2008
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test.
7668256
1995
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
CLINVAR
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
23453023
2013
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Point mutations in the dystrophin gene.
1549596
1992
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
23536893
2013
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
CLINVAR
A case report with the peculiar concomitance of 2 different genetic syndromes.
27930565
2016
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Novel point mutations in the dystrophin gene.
9298822
1997
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
CLINVAR
Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
25900853
2016
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
17259292
2007
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.
15723292
2005
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
The only known disease gene is the dystrophin gene causing X-linked dilated cardiomyopathy , but other cytoskeletal proteins, such as adhalin, could be involved.
9891591
1998
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
CLINVAR
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
22223181
2012
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.
27515321
2016
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
19001018
2009
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.
23756440
2014
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
AlteredExpression
disease
BEFREE
Our report underlines the complexity of the pathogenic mechanism leading to X-linked dilated cardiomyopathy but suggests that differences in tissue-specific expression of dystrophin mutations may be a common feature in this condition.
9683584
1998
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
10909857
2000