DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Dmd-Associated Dilated Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894790
rs104894790
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601 2009
dbSNP: rs104894790
rs104894790
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis. 19409785 2009
dbSNP: rs104894790
rs104894790
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Point mutations in Czech DMD/BMD patients and their phenotypic outcome. 19783145 2009
dbSNP: rs104894790
rs104894790
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis. 17145200 2007
dbSNP: rs104894790
rs104894790
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. 10533061 1999
dbSNP: rs104894790
rs104894790
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Characterization of two nonsense mutations in the human dystrophin gene. 10320864 1998
dbSNP: rs104894790
rs104894790
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. 7668256 1995
dbSNP: rs104894790
rs104894790
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. 8281150 1993