CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
Biomarker
|
disease |
MGD |
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.
|
23695275 |
2014 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.
|
19770540 |
2009 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
|
19259135 |
2009 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting.
|
16524571 |
2006 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
Biomarker
|
disease |
MGD |
Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex.
|
10862711 |
2000 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
|
10974018 |
2000 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
Biomarker
|
disease |
MGD |
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy.
|
10481911 |
1999 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
|
10735275 |
1997 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
|
10735275 |
1997 |
CARDIOMYOPATHY, DILATED, 1L
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|