rs104894655
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
|
10655062 |
2000 |
rs1064793814
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Truncations of titin causing dilated cardiomyopathy.
|
22335739 |
2012 |
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.
|
23308118 |
2013 |
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
|
12610310 |
2003 |
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
|
22427649 |
2012 |
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
|
21282613 |
2011 |
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.
|
25593317 |
2015 |
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.
|
19139388 |
2009 |
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.
|
18056057 |
2008 |
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
|
25928149 |
2015 |
rs111033559
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
rs111033560
|
|
Cardiomyopathy, Dilated
|
G |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
rs1114167453
|
|
Cardiomyopathy, Dilated
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs111569862
|
|
Cardiomyopathy, Dilated
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
A novel mutation in a large French-Canadian family with LGMD1B.
|
18714801 |
2008 |
rs111569862
|
|
Cardiomyopathy, Dilated
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers.
|
27884249 |
2016 |
rs112188483
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs112240298
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs114638163
|
|
Cardiomyopathy, Dilated
|
A |
0.700 |
CausalMutation
|
CLINVAR |
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
|
27799064 |
2016 |
rs121912997
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs121913642
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Human growth hormone stimulates somatomedin C/insulin-like growth factor I production by the human lymphoid cell line, IM-9.
|
2753225 |
1989 |
rs121913642
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
|
11106718 |
2000 |
rs121913642
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.
|
17351073 |
2007 |
rs121913642
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.
|
22949430 |
2012 |
rs121913642
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.
|
16983074 |
2006 |
rs121913642
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy.
|
23313350 |
2013 |