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: rs1557315928
rs1557315928
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C4022648
Disease:
Abnormal muscle fiber dystrophin expression 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1261007995
rs1261007995
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE We provide evidence that YFP can detect morphological and plastic alterations in the SOD1(G93A) mouse, and that the pre- and post-synaptic integrity of the NMJ plays an important role in the pathogenic mechanisms of ALS. 27038603 2016
dbSNP: rs1391274976
rs1391274976
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE We provide evidence that YFP can detect morphological and plastic alterations in the SOD1(G93A) mouse, and that the pre- and post-synaptic integrity of the NMJ plays an important role in the pathogenic mechanisms of ALS. 27038603 2016
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: rs886042604
rs886042604
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0018817
Disease:
Atrial Septal Defects 		G 0.700 CausalMutation CLINVAR
dbSNP: rs267606771
rs267606771
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		A 0.710 CausalMutation CLINVAR
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: 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: 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: rs104894787
rs104894787
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1280415176
rs1280415176
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs128626236
rs128626236
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs128626237
rs128626237
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs128627256
rs128627256
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1556880354
rs1556880354
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557047827
rs1557047827
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557380616
rs1557380616
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1569546198
rs1569546198
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1569564916
rs1569564916
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1800279
rs1800279
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		0.700 GeneticVariation UNIPROT
dbSNP: rs182575709
rs182575709
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs201217593
rs201217593
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs373286166
rs373286166
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0917713
Disease:
Becker Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR