DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Muscular Dystrophy, Duchenne ×

Gene: DMD ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886039785

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs878854366

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

27854218

2016

dbSNP:

rs72470513

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs398124099

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

17041906

2007

dbSNP:

rs398124099

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Transposable elements in disease-associated cryptic exons.

19823873

2010

dbSNP:

rs398124099

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.

14659407

2004

dbSNP:

rs398123923

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

25007885

2014

dbSNP:

rs398123923

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

16770791

2006

dbSNP:

rs398123909

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

23453023

2013

dbSNP:

rs373286166

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.

17854090

2008

dbSNP:

rs373286166

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

17259292

2007

dbSNP:

rs373286166

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

A case report with the peculiar concomitance of 2 different genetic syndromes.

27930565

2016

dbSNP:

rs373286166

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

19937601

2009

dbSNP:

rs373286166

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

22223181

2012

dbSNP:

rs182575709

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1569528101

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1557396600

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556962271

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

AAATG

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556665303

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556665052

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

16770791

2006

dbSNP:

rs1060502653

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1060502637

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1060502634

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1060502619

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700

GeneticVariation

CLINVAR

dbSNP:

rs104894790

DMD

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.010

GeneticVariation

BEFREE

A literature-annotated disease nonsense mutation (c.10141C>T, NM_004006.1) in exon 70 that has been reported as Duchenne Muscular Dystrophy (DMD)-causing mutation was found in our two patients, the proband and his cousin.

22425969

2012