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: rs6631478
rs6631478
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C1328319
Disease:
Ankle brachial pressure index (observable entity) 		T 0.700 GeneticVariation GWASCAT Variants Associated with the Ankle Brachial Index Differ by Hispanic/Latino Ethnic Group: a genome-wide association study in the Hispanic Community Health Study/Study of Latinos. 31388106 2019
dbSNP: rs749989940
rs749989940
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		0.010 GeneticVariation BEFREE The boy was diagnosed with BMD, despite remarkable reduction in GAA activity; further, he demonstrated heterozygosity for [p.Gly576Ser; p.Glu689Lys] polymorphism variants that indicated pseudodeficiency on another allele in GAA. 29778277 2018
dbSNP: rs760251358
rs760251358
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0026850
Disease:
Muscular Dystrophy 		0.010 GeneticVariation BEFREE In addition, we show that a missense mutation (arginine 440 to glutamine) in WWP1-which is known to cause muscular dystrophy in chickens-increases the ubiquitin ligase-mediated ubiquitination of both β-dystroglycan and WWP1. 29635000 2018
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: rs1420714074
rs1420714074
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C1960469
Disease:
Left ventricular noncompaction 		0.010 GeneticVariation BEFREE We found that a female infant presenting with left bundle branch block and left ventricular noncompaction carries uninvestigated gene mutations HCN4(G811E), SCN5A(L1988R), DMD(S2384Y), and EMD(R203H). 29349559 2018
dbSNP: rs794727065
rs794727065
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C1960469
Disease:
Left ventricular noncompaction 		0.010 GeneticVariation BEFREE We found that a female infant presenting with left bundle branch block and left ventricular noncompaction carries uninvestigated gene mutations HCN4(G811E), SCN5A(L1988R), DMD(S2384Y), and EMD(R203H). 29349559 2018
dbSNP: rs1379871
rs1379871
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs1556503937
rs1556503937
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693 2017
dbSNP: rs1569559106
rs1569559106
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693 2017
dbSNP: rs398123935
rs398123935
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: 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: rs769985775
rs769985775
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE Furthermore, BTMs were lower in the m.3243A>G group before but not after adjustment for DM. 28603900 2017
dbSNP: rs769985775
rs769985775
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0231341
Disease:
Premature aging syndrome 		0.010 GeneticVariation BEFREE Although the coexistence of DM may have influenced bone turnover, the bone phenotype observed in m.3243A>G cases appeared to mirror age-related deterioration in bone, suggesting that mitochondrial dysfunction may cause a premature aging of bone.© 2017 The Authors. 28603900 2017
dbSNP: rs769985775
rs769985775
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0948444
Disease:
Mitochondrial DNA mutation 		0.010 GeneticVariation BEFREE All patients with MIDD were confirmed as carrying the m.3243A>G mitochondrial DNA mutation. 28599824 2017
dbSNP: rs769985775
rs769985775
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE This study presents nine patients with mitochondrial tRNA Leu (UUR) m.3243A>G mutation and compares the clinical characteristics and diabetes complications with type 1 diabetes (T1DM) or early onset type 2 diabetes (T2DM). 28599824 2017
dbSNP: rs769985775
rs769985775
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation BEFREE This study presents nine patients with mitochondrial tRNA Leu (UUR) m.3243A>G mutation and compares the clinical characteristics and diabetes complications with type 1 diabetes (T1DM) or early onset type 2 diabetes (T2DM). 28599824 2017
dbSNP: rs769985775
rs769985775
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0342257
Disease:
Complications of Diabetes Mellitus 		0.010 GeneticVariation BEFREE This study presents nine patients with mitochondrial tRNA Leu (UUR) m.3243A>G mutation and compares the clinical characteristics and diabetes complications with type 1 diabetes (T1DM) or early onset type 2 diabetes (T2DM). 28599824 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: rs128626246
rs128626246
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China. 28318817 2017
dbSNP: rs398124094
rs398124094
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS. 28100912 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: 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