DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030730
rs5030730
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype. 29581631 2017
dbSNP: rs73460075
rs73460075
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0039494
Disease:
Temporomandibular Joint Disorders 		C 0.700 GeneticVariation GWASCAT GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos. 28081371 2017
dbSNP: rs773643220
rs773643220
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222 2017
dbSNP: rs794726993
rs794726993
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693 2017
dbSNP: rs794726993
rs794726993
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		A 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693 2017
dbSNP: rs794726993
rs794726993
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693 2017
dbSNP: rs863224985
rs863224985
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Do we need 3D tube current modulation information for accurate organ dosimetry in chest CT? Protocols dose comparisons. 28526893 2017
dbSNP: rs1557218131
rs1557218131
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 CausalMutation CLINVAR [Mutation screening of 433 families with Duchenne/Becker muscular dystrophy]. 27122458 2016
dbSNP: rs1569528101
rs1569528101
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		C 0.700 GeneticVariation CLINVAR Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples. 25900853 2016
dbSNP: rs1569562952
rs1569562952
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		G 0.700 CausalMutation CLINVAR Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26. 27515321 2016
dbSNP: rs373286166
rs373286166
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		T 0.700 GeneticVariation CLINVAR A case report with the peculiar concomitance of 2 different genetic syndromes. 27930565 2016
dbSNP: rs373286166
rs373286166
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR A case report with the peculiar concomitance of 2 different genetic syndromes. 27930565 2016
dbSNP: rs373286166
rs373286166
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		T 0.700 GeneticVariation CLINVAR A case report with the peculiar concomitance of 2 different genetic syndromes. 27930565 2016
dbSNP: rs398123862
rs398123862
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR [Mutation screening of 433 families with Duchenne/Becker muscular dystrophy]. 27122458 2016
dbSNP: rs398124040
rs398124040
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. 26911353 2016
dbSNP: rs878854366
rs878854366
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		C 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
dbSNP: rs886044502
rs886044502
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		G 0.700 CausalMutation CLINVAR Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. 27425820 2016
dbSNP: rs104894787
rs104894787
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. 25612904 2015
dbSNP: rs128626250
rs128626250
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. 25612904 2015
dbSNP: rs128627256
rs128627256
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. 25612904 2015
dbSNP: rs1556806356
rs1556806356
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		C 0.700 CausalMutation CLINVAR DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. 25972034 2015
dbSNP: rs16990169
rs16990169
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C2076600
Disease:
Influenza due to Influenza A virus subtype H1N1 		0.700 GeneticVariation GWASCAT No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity. 26379185 2015
dbSNP: rs398123832
rs398123832
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. 25612904 2015
dbSNP: rs398123935
rs398123935
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. 25972034 2015
dbSNP: rs794726993
rs794726993
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015