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 Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular dystrophies. 12102170 2002
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive muscle-wasting disease. 1362673 1992
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD, BMD) have both been clinically recognized for over 100 years, yet throughout much of that time nothing beyond clinical evaluation and supportive care during the disease course was available to patients. 1412702 1992
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
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/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 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 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 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 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 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 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 GeneticVariation disease BEFREE Duchenne and Becker muscular dystrophy (DMD and BMD) genes are located in Xp21 on the short arm of the X chromosome. 2821406 1987
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/BMD) are allelic variants caused by mutations in gene-encoding dystrophin. 7900621 1995
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD) is a severe X-linked myopathy. 8737397 1996
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. 2227948 1990
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 GeneticVariation disease BEFREE A new screening method involving the multiplex polymerase chain reaction was developed to detect dystrophin gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy (DMD/BMD). 1785656 1991
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 Biomarker disease BEFREE A panel of patients with Duchenne and Becker muscular dystrophy (DMD and BMD) has been screened with the cDNA probes Cf56a and Cf23a, which detect exons in the central part of the DMD gene. 3169738 1988
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Although earlier studies were limited to gross rearrangement mutations, we are now in a position to draw lessons on the molecular etiology of the remaining one-third of cases of Duchenne and Becker muscular dystrophy (DMD, BMD) which are associated with small mutations. 7951253 1994
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 Biomarker disease BEFREE An improved method by quantitative dystrophin gene deletion analysis was developed for the detection of Duchenne/Becker muscular dystrophy (DMD/BMD) carriers. 1621929 1992
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.100 GeneticVariation disease BEFREE Cloned cDNA sequences representing exons from the Duchenne/Becker muscular dystrophy (DMD/BMD) gene were used for deletion screening in a population of 287 males males affected with DMD or BMD. 2585468 1989