DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Muscular Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556962271
rs1556962271
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0026850
Disease:
Muscular Dystrophy 		AAATG 0.700 GeneticVariation CLINVAR
dbSNP: rs1557058294
rs1557058294
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0026850
Disease:
Muscular Dystrophy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1557396600
rs1557396600
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0026850
Disease:
Muscular Dystrophy 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs886039785
rs886039785
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0026850
Disease:
Muscular Dystrophy 		T 0.700 GeneticVariation CLINVAR
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