Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Mutation of the gene encoding dystrophin leads to Duchenne and Becker muscular dystrophy (DMD and BMD). 29790927 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. 28734761 2017
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD and BMD) are X-chromosomal recessive neuromuscular disorders that are caused by mutations in the dystrophin gene and characterized by cardiac involvement. 27150296 2016
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 Biomarker disease BEFREE The mild end of the spectrum includes the phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, while at the severe end, there are progressive muscle diseases that are classified as Duchenne / Becker muscular dystrophy (DMD/BMD). 25416089 2015
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. 25131993 2015
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD) is a recessive, X-linked disorder caused by a mutation in the dystrophin gene. 25482253 2014
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD/BMD) are both caused by mutations in the DMD gene. 23667215 2014
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE The protocol was standardized on a variety of known mutations, in 11 patients with cystic fibrosis (CF), Fabry's disease (FD), steroid 21-hydroxylase deficiency (21-HD), and Duchenne/Becker muscular dystrophy (DMD/BMD). 23934597 2013
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE The multiplex ligation-dependent probe amplification (MLPA) assay is the most powerful tool in screening for deletions and duplications in the dystrophin gene in patients with Duchenne and Becker muscular dystrophy (DMD/BMD). 23224783 2013
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Our group has focused on developing direct gene replacement strategies to treat recessively inherited forms of muscular dystrophy, particularly Duchenne and Becker muscular dystrophy (DMD/BMD). 22533379 2012
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. 22379338 2012
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 Biomarker disease BEFREE Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. 21399986 2011
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by large deletions or duplications in two-thirds of the cases. 19409785 2009
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE A comprehensive study of the Hungarian Duchenne/Becker muscular dystrophy (DMD/BMD) families is presented. 19084397 2009
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 Biomarker disease BEFREE This study aims to perform gene diagnosis for nine patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and their parents with multiplex ligation-dependent probe amplification (MLPA), and to carry out prenatal gene diagnosis for one of them. 19927354 2009
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE In the case of so called "orphan" diseases, such as Duchenne and Becker muscular dystrophy (DMD/BMD), the number of suitable patients within one country is usually limited. 19269824 2009
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD), the most common X-linked muscular dystrophy is caused by mutations in the enormously large DMD gene, encoding the protein called dystrophin. 18653336 2008
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 Biomarker disease BEFREE Reduced or absent sarcolemmal expression of one or all of the four sarcoglycans (alpha-, beta-, gamma-, delta-sarcoglycan) can be found in patients with limb-girdle muscular dystrophy 2C-F (LGMD2C-F) and also in patients with Duchenne and Becker muscular dystrophy (DMD/BMD). 18996010 2008
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE The protocol was standardized on a variety of known mutations, in 11 patients with cystic fibrosis (CF), Fabry's disease (FD), steroid 21-hydroxylase deficiency (21-HD) and Duchenne/Becker muscular dystrophy (DMD/BMD). 17952667 2007
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 Biomarker disease BEFREE The last decade has evidenced unprecedented progress in gene therapy of Duchenne and Becker muscular dystrophy (DMD and BMD) skeletal muscle disease. 16987891 2006
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. 16936400 2006
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE We have investigated the frequency of deletions in the dystrophin gene in 108 unrelated Duchenne and Becker muscular dystrophy (DMD/BMD) patients from southern Italy (DMD, n. 47; BMD, n. 61) and identified 89 deletions. 15845029 2005
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Although the molecular defect causing Duchenne/Becker muscular dystrophy (DMD/BMD) was identified nearly 20 years ago, the development of effective therapeutic strategies has nonetheless remained a daunting challenge. 15923398 2005
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne and Becker Muscular Dystrophy (DMD and BMD) are caused, in the majority of cases, by deletions in the dystrophin gene ( DMD). 15118904 2004
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. 14695533 2004