rs74315380
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
|
15542288 |
2004 |
rs74315380
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
|
17932326 |
2007 |
rs74315380
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
|
21551322 |
2011 |
rs74315380
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
rs74315380
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
rs74315380
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Mutations in sarcomere protein genes in left ventricular noncompaction.
|
18506004 |
2008 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
|
11684629 |
2001 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
|
15769782 |
2005 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
|
17932326 |
2007 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
|
15623536 |
2005 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
|
14654368 |
2003 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Different functional properties of troponin T mutants that cause dilated cardiomyopathy.
|
12923187 |
2003 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
|
23539503 |
2013 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Mutations in sarcomere protein genes in left ventricular noncompaction.
|
18506004 |
2008 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.
|
24367593 |
2013 |
rs74315379
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
[Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population].
|
19253838 |
2008 |
rs59270054
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
[Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells].
|
17386158 |
2007 |
rs59270054
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
|
16630578 |
2006 |
rs59270054
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
[A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy].
|
16266469 |
2005 |
rs59270054
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.
|
20155465 |
2010 |
rs59270054
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.
|
21151901 |
2010 |
rs59270054
|
|
Cardiomyopathy, Dilated
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.
|
20497714 |
2010 |
rs60682848
|
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.
|
19638735 |
2009 |