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: rs398122853
rs398122853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy
T 0.710 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
dbSNP: rs398122853
rs398122853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy
T 0.710 CausalMutation CLINVAR DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. 19793655 2009
dbSNP: rs398122853
rs398122853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy
T 0.710 CausalMutation CLINVAR DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. 19206170 2009
dbSNP: rs398122853
rs398122853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy
0.710 GeneticVariation BEFREE DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. 19793655 2009
dbSNP: rs267606771
rs267606771
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy
0.710 GeneticVariation BEFREE A nonsense mutation (E1211X) due to a G to T transversion at the 28th nucleotide of exon 27 (G3839T) was identified in the dystrophin gene of a Japanese Becker muscular dystrophy case. 9410897 1997
dbSNP: rs267606771
rs267606771
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy
A 0.710 CausalMutation CLINVAR
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: rs398123942
rs398123942
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
A 0.700 CausalMutation CLINVAR Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. 26968818 2018
dbSNP: rs1057522454
rs1057522454
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: 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: 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: rs1556040444
rs1556040444
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
T 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: 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: rs1556789913
rs1556789913
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy
T 0.700 CausalMutation CLINVAR Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. 27750387 2017
dbSNP: rs1557374667
rs1557374667
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
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: rs1569530432
rs1569530432
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: 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: rs398122853
rs398122853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
dbSNP: rs398122853
rs398122853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy
T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
dbSNP: rs398123832
rs398123832
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: rs398123923
rs398123923
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: 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: rs398123953
rs398123953
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: rs398124050
rs398124050
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: 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